#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
LRRIQ1	84125	hgsc.bcm.edu;ucsc.edu	37	12	85623348	85623348	+	Missense_Mutation	SNP	C	C	T	rs1395676	byFrequency	TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr12:85623348C>T	ENST00000393217.2	+	25	4937	c.4876C>T	c.(4876-4878)Cgg>Tgg	p.R1626W	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1626								p.R1626W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAAATTAGAACGGAATAGAGA	0.358																																																1	Substitution - Missense(1)	large_intestine(1)											122.0	117.0	118.0					12																	85623348		1822	4083	5905	SO:0001583	missense	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4876C>T	12.37:g.85623348C>T	ENSP00000376910:p.Arg1626Trp		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	3.815	-0.038929	0.07497	.	.	ENSG00000133640	ENST00000393217	T	0.55052	0.54	5.3	-0.326	0.12698	.	.	.	.	.	T	0.32675	0.0837	N	0.24115	0.695	0.09310	N	0.999994	B	0.33777	0.425	B	0.24269	0.052	T	0.15521	-1.0434	9	0.87932	D	0	.	8.6648	0.34114	0.4479:0.4346:0.0:0.1174	.	1626	Q96JM4	LRIQ1_HUMAN	W	1626	ENSP00000376910:R1626W	ENSP00000376910:R1626W	R	+	1	2	LRRIQ1	84147479	0.998000	0.40836	0.452000	0.26994	0.279000	0.26890	0.865000	0.27940	0.065000	0.16485	-0.272000	0.10252	CGG		0.358	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		55	53	55	53
C17orf53	78995	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	42225428	42225428	+	Missense_Mutation	SNP	C	C	T	rs563980398		TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr17:42225428C>T	ENST00000319977.4	+	3	494	c.257C>T	c.(256-258)aCg>aTg	p.T86M	C17orf53_ENST00000585683.1_Missense_Mutation_p.T86M|C17orf53_ENST00000245382.6_Missense_Mutation_p.T86M	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	86										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCCTCCAGCACGCCCAGTGCT	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19161	0.0		0.0	False		,,,				2504	0.001															0													84.0	73.0	76.0					17																	42225428		2203	4300	6503	SO:0001583	missense	0			AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.257C>T	17.37:g.42225428C>T	ENSP00000313500:p.Thr86Met		A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.513158	0.00975	.	.	ENSG00000125319	ENST00000319977;ENST00000245382;ENST00000253405	T;T	0.40225	1.04;1.04	4.68	1.11	0.20524	.	1.059490	0.07253	N	0.866199	T	0.11665	0.0284	N	0.00413	-1.525	0.09310	N	1	B;B;B	0.12013	0.005;0.001;0.005	B;B;B	0.13407	0.009;0.0;0.009	T	0.26326	-1.0106	10	0.14252	T	0.57	-0.1606	4.7069	0.12855	0.0:0.1771:0.1617:0.6612	.	86;86;86	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	M	86	ENSP00000313500:T86M;ENSP00000245382:T86M	ENSP00000245382:T86M	T	+	2	0	C17orf53	39580954	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.190000	0.09615	-0.009000	0.14296	-0.340000	0.08031	ACG		0.602	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		44	72	44	72
JAK3	3718	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	17945744	17945744	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr19:17945744C>A	ENST00000527670.1	-	15	2145	c.2116G>T	c.(2116-2118)Gct>Tct	p.A706S	JAK3_ENST00000534444.1_Missense_Mutation_p.A706S|JAK3_ENST00000458235.1_Missense_Mutation_p.A706S			P52333	JAK3_HUMAN	Janus kinase 3	706	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	CACTTGTCAGCTTCCAAGCTA	0.617		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													67.0	71.0	70.0					19																	17945744		2203	4300	6503	SO:0001583	missense	3718			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2116G>T	19.37:g.17945744C>A	ENSP00000432511:p.Ala706Ser		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760489	0.31137	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	T;T;T	0.74842	-0.88;-0.88;-0.88	4.89	3.76	0.43208	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.359166	0.29424	N	0.012185	T	0.51822	0.1697	N	0.04387	-0.21	0.34199	D	0.672998	B;B	0.22983	0.028;0.078	B;B	0.24974	0.044;0.057	T	0.60429	-0.7265	10	0.36615	T	0.2	-12.5865	11.2528	0.49037	0.2669:0.7331:0.0:0.0	.	706;706	P52333-2;P52333	.;JAK3_HUMAN	S	706	ENSP00000391676:A706S;ENSP00000432511:A706S;ENSP00000436421:A706S	ENSP00000391676:A706S	A	-	1	0	JAK3	17806744	0.608000	0.26966	0.997000	0.53966	0.678000	0.39670	0.628000	0.24522	2.255000	0.74692	0.555000	0.69702	GCT		0.617	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		29	39	29	39
CIC	23152	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr19:42791757C>T	ENST00000575354.2	+	5	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000572681.2_Missense_Mutation_p.R1124W	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.R215W(4)		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)				CAAGCGGCACCGGGCCCTGGT	0.612			"""Mis, F, S"""		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	4	Substitution - Missense(4)	central_nervous_system(4)											64.0	64.0	64.0					19																	42791757		2203	4300	6503	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.643C>T	19.37:g.42791757C>T	ENSP00000458663:p.Arg215Trp		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199892	0.58126	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.82033	0.4949	M	0.93241	3.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85234	0.1034	8	0.87932	D	0	-14.3323	9.6958	0.40156	0.2069:0.7931:0.0:0.0	.	215	Q96RK0	CIC_HUMAN	W	215	.	ENSP00000160740:R215W	R	+	1	2	CIC	47483597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.293000	0.59037	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			36	13	36	13
ARID1A	8289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	27105550	27105550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr1:27105550C>T	ENST00000324856.7	+	20	5532	c.5161C>T	c.(5161-5163)Cga>Tga	p.R1721*	ARID1A_ENST00000540690.1_Nonsense_Mutation_p.R49*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R1338*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R1504*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1721					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.R1721*(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGAATATTTCCGACGATGCCT	0.443			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	3	Substitution - Nonsense(3)	ovary(1)|large_intestine(1)|endometrium(1)											184.0	203.0	196.0					1																	27105550		2203	4300	6503	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5161C>T	1.37:g.27105550C>T	ENSP00000320485:p.Arg1721*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	9.126146|9.126146	0.99073|0.99073	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	.|.	.|.	.|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	.|0.060827	.|0.64402	.|D	.|0.000007	T|.	0.34745|.	0.0908|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15954|.	-1.0419|.	4|.	.|0.02654	.|T	.|1	-6.2012|-6.2012	13.2131|13.2131	0.59836|0.59836	0.159:0.841:0.0:0.0|0.159:0.841:0.0:0.0	.|.	.|.	.|.	.|.	L|X	617|1721;1504;1338;49	.|.	.|ENSP00000320485:R1721X	P|R	+|+	2|1	0|2	ARID1A|ARID1A	26978137|26978137	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.413000|2.413000	0.44618|0.44618	2.622000|2.622000	0.88805|0.88805	0.591000|0.591000	0.81541|0.81541	CCG|CGA		0.443	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		23	174	23	174
LPHN2	23266	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	82408735	82408735	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr1:82408735C>G	ENST00000370728.1	+	8	1125	c.480C>G	c.(478-480)tgC>tgG	p.C160W	LPHN2_ENST00000370717.2_Missense_Mutation_p.C160W|LPHN2_ENST00000335786.5_Missense_Mutation_p.C160W|LPHN2_ENST00000359929.3_Missense_Mutation_p.C160W|LPHN2_ENST00000370727.1_Missense_Mutation_p.C160W|LPHN2_ENST00000370715.1_Missense_Mutation_p.C160W|LPHN2_ENST00000370721.1_Missense_Mutation_p.C164W|LPHN2_ENST00000394879.1_Missense_Mutation_p.C160W|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.C160W|LPHN2_ENST00000319517.6_Missense_Mutation_p.C160W|LPHN2_ENST00000370725.1_Missense_Mutation_p.C160W|LPHN2_ENST00000370723.1_Missense_Mutation_p.C160W|LPHN2_ENST00000370713.1_Missense_Mutation_p.C160W|LPHN2_ENST00000370730.1_Missense_Mutation_p.C160W			O95490	LPHN2_HUMAN	latrophilin 2	160	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GTGCTTGGTGCAAGGACCCTC	0.408																																																0													79.0	86.0	84.0					1																	82408735		2202	4299	6501	SO:0001583	missense	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.480C>G	1.37:g.82408735C>G	ENSP00000359763:p.Cys160Trp		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.28|14.28	2.488013|2.488013	0.44249|0.44249	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.88896	.|-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	5.79|5.79	4.88|4.88	0.63580|0.63580	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91801|0.91801	0.7406|0.7406	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.79784	.|0.993;0.986;0.993	D|D	0.92846|0.92846	0.6293|0.6293	5|10	.|0.87932	.|D	.|0	.|.	10.8162|10.8162	0.46578|0.46578	0.0:0.857:0.0:0.143|0.0:0.857:0.0:0.143	.|.	.|160;160;160	.|O95490-3;O95490-4;O95490-2	.|.;.;.	G|W	28|164;160;160;160;160;160;160;160;160;160;160;160;160;160	.|ENSP00000359756:C164W;ENSP00000359763:C160W;ENSP00000359765:C160W;ENSP00000359762:C160W;ENSP00000359760:C160W;ENSP00000359758:C160W;ENSP00000353006:C160W;ENSP00000359750:C160W;ENSP00000359748:C160W;ENSP00000322270:C160W;ENSP00000359752:C160W;ENSP00000378344:C160W;ENSP00000271029:C160W;ENSP00000337306:C160W	.|ENSP00000271029:C160W	A|C	+|+	2|3	0|2	LPHN2|LPHN2	82181323|82181323	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.754000|2.754000	0.47532|0.47532	1.453000|1.453000	0.47775|0.47775	0.650000|0.650000	0.86243|0.86243	GCA|TGC		0.408	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		9	41	9	41
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	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)		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			32	55	32	55
SCN11A	11280	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	38936278	38936278	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr3:38936278G>T	ENST00000302328.3	-	15	2779	c.2581C>A	c.(2581-2583)Caa>Aaa	p.Q861K	SCN11A_ENST00000444237.2_Missense_Mutation_p.Q861K|SCN11A_ENST00000450244.1_Missense_Mutation_p.Q861K|SCN11A_ENST00000456224.3_Missense_Mutation_p.Q861K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	861					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGTAAGTTTTGCTTCCTGCAC	0.488																																																0													105.0	103.0	103.0					3																	38936278		2203	4300	6503	SO:0001583	missense	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2581C>A	3.37:g.38936278G>T	ENSP00000307599:p.Gln861Lys		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	2.845	-0.239541	0.05944	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	5.19	2.07	0.26955	Sodium ion transport-associated (1);	1.088120	0.07134	N	0.846066	T	0.66479	0.2793	L	0.28274	0.84	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.50816	-0.8783	10	0.26408	T	0.33	.	3.1299	0.06419	0.0844:0.2412:0.409:0.2653	.	861	Q9UI33	SCNBA_HUMAN	K	861	ENSP00000307599:Q861K;ENSP00000400945:Q861K;ENSP00000416757:Q861K;ENSP00000408028:Q861K	ENSP00000307599:Q861K	Q	-	1	0	SCN11A	38911282	0.000000	0.05858	0.002000	0.10522	0.047000	0.14425	-0.268000	0.08607	0.610000	0.30035	0.650000	0.86243	CAA		0.488	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		47	70	47	70
PIK3CA	5290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CATGAAACAAATGAATGATGC	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	22	Substitution - Missense(22)	endometrium(9)|breast(6)|upper_aerodigestive_tract(3)|large_intestine(1)|central_nervous_system(1)|lung(1)|ovary(1)											97.0	87.0	91.0					3																	178952072		1905	4126	6031	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3127A>G	3.37:g.178952072A>G	ENSP00000263967:p.Met1043Val		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199517	0.38806	.	.	ENSG00000121879	ENST00000263967	T	0.79653	-1.29	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	N	0.02830	-0.485	0.80722	D	1	B	0.22146	0.065	B	0.19666	0.026	T	0.64080	-0.6491	10	0.72032	D	0.01	-20.5202	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1043	P42336	PK3CA_HUMAN	V	1043	ENSP00000263967:M1043V	ENSP00000263967:M1043V	M	+	1	0	PIK3CA	180434766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	ATG		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			41	46	41	46
TNXB	7148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	32053695	32053695	+	Missense_Mutation	SNP	G	G	A	rs201292165		TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr6:32053695G>A	ENST00000375244.3	-	7	3181	c.2980C>T	c.(2980-2982)Cgc>Tgc	p.R994C	TNXB_ENST00000375247.2_Missense_Mutation_p.R994C			P22105	TENX_HUMAN	tenascin XB	1081	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCCGCATGCGCAGTTGGAAG	0.672																																																0								G	CYS/ARG	1,2613		0,1,1306	59.0	70.0	66.0		2980	0.7	0.2	6		66	1,5127		0,1,2563	yes	missense	TNXB	NM_019105.6	180	0,2,3869	AA,AG,GG		0.0195,0.0383,0.0258	probably-damaging	994/4243	32053695	2,7740	1307	2564	3871	SO:0001583	missense	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.2980C>T	6.37:g.32053695G>A	ENSP00000364393:p.Arg994Cys		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	G	13.61	2.289317	0.40494	3.83E-4	1.95E-4	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04809	3.55;3.55	3.89	0.687	0.18020	.	1.978860	0.02485	N	0.088909	T	0.03520	0.0101	L	0.27053	0.805	0.09310	N	1	D	0.76494	0.999	D	0.64042	0.921	T	0.32613	-0.9900	10	0.59425	D	0.04	.	2.8428	0.05534	0.2749:0.0:0.5098:0.2153	.	994	P22105-3	.	C	994	ENSP00000364393:R994C;ENSP00000364396:R994C	ENSP00000364393:R994C	R	-	1	0	TNXB	32161673	0.948000	0.32251	0.213000	0.23690	0.469000	0.32828	1.475000	0.35409	0.231000	0.21079	0.460000	0.39030	CGC		0.672	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		42	52	42	52
CFAP69	79846	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	89929253	89929253	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr7:89929253G>A	ENST00000389297.4	+	17	2181	c.1930G>A	c.(1930-1932)Gct>Act	p.A644T	C7orf63_ENST00000497910.1_Missense_Mutation_p.A626T|C7orf63_ENST00000316089.8_Missense_Mutation_p.A644T	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		644										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CAAAACTGCAGCTCATGTCAA	0.348																																																0													73.0	69.0	70.0					7																	89929253		1812	4086	5898	SO:0001583	missense	0																														ENST00000389297.4:c.1930G>A	7.37:g.89929253G>A	ENSP00000373948:p.Ala644Thr		A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988651	0.53934	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.81	5.81	0.92471	Armadillo-type fold (1);	0.321794	0.32736	N	0.005708	T	0.44201	0.1282	M	0.73598	2.24	0.28276	N	0.924219	B;P;B	0.35272	0.056;0.493;0.328	B;B;B	0.32864	0.052;0.154;0.053	T	0.46162	-0.9211	10	0.23302	T	0.38	-8.6477	9.3216	0.37968	0.0716:0.0:0.7189:0.2095	.	626;644;644	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	T	644;644;626;227	ENSP00000373948:A644T;ENSP00000321753:A644T;ENSP00000419549:A626T;ENSP00000391571:A227T	ENSP00000321753:A644T	A	+	1	0	C7orf63	89767189	0.981000	0.34729	0.972000	0.41901	0.983000	0.72400	1.932000	0.40143	2.746000	0.94184	0.655000	0.94253	GCT		0.348	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			20	21	20	21
SLC13A1	6561	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	122768985	122768985	+	Silent	SNP	C	C	T			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr7:122768985C>T	ENST00000194130.2	-	10	1086	c.1047G>A	c.(1045-1047)gtG>gtA	p.V349V	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	349					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GGACCAAGGTCACAATTTCTT	0.418																																																0													77.0	67.0	71.0					7																	122768985		2203	4300	6503	SO:0001819	synonymous_variant	6561				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1047G>A	7.37:g.122768985C>T			Q9H5Z0	Silent	SNP	ENST00000194130.2	37	CCDS5786.1																																																																																				0.418	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		13	22	13	22
TTN	7273	broad.mit.edu;ucsc.edu	37	2	179434377	179434377	+	Silent	SNP	G	G	A	rs370908118		TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr2:179434377G>A	ENST00000591111.1	-	276	71783	c.71559C>T	c.(71557-71559)gaC>gaT	p.D23853D	TTN_ENST00000342992.6_Silent_p.D22926D|TTN_ENST00000589042.1_Silent_p.D25494D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.D16621D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Silent_p.D16554D|TTN_ENST00000460472.2_Silent_p.D16429D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23853	Fibronectin type-III 73. {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)			GTCCAGGGACGTCAGCATGTT	0.373																																																0								A	,,,	0,3770		0,0,1885	76.0	66.0	69.0		49287,68778,49662,49863	3.3	1.0	2		69	2,8226		0,2,4112	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,2,5997	AA,AG,GG		0.0243,0.0,0.0167	,,,	16429/26927,22926/33424,16554/27052,16621/27119	179434377	2,11996	1885	4114	5999	SO:0001819	synonymous_variant	7273			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.71559C>T	2.37:g.179434377G>A			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	Silent	SNP	ENST00000591111.1	37																																																																																					0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	17	5	17
CRIPAK	285464	broad.mit.edu;ucsc.edu	37	4	1388948	1388948	+	Missense_Mutation	SNP	A	A	C	rs140577610	byFrequency	TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr4:1388948A>C	ENST00000324803.4	+	1	3609	c.649A>C	c.(649-651)Agt>Cgt	p.S217R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	217					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCATGTGGAGTGTTCGCCT	0.662													N|||	75	0.014976	0.0	0.0058	5008	,	,		12534	0.0		0.0149	False		,,,				2504	0.0573															0								A	ARG/SER	6,4312		1,4,2154	209.0	144.0	167.0		649	-2.8	0.0	4	dbSNP_134	167	104,7562		37,30,3766	no	missense	CRIPAK	NM_175918.3	110	38,34,5920	CC,CA,AA		1.3566,0.139,0.9179	possibly-damaging	217/447	1388948	110,11874	2159	3833	5992	SO:0001583	missense	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.649A>C	4.37:g.1388948A>C	ENSP00000323978:p.Ser217Arg		Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	a	9.985	1.229080	0.22542	0.00139	0.013566	ENSG00000179979	ENST00000324803	T	0.18657	2.2	1.41	-2.82	0.05787	.	.	.	.	.	T	0.05044	0.0135	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.36817	-0.9732	9	0.18276	T	0.48	.	3.3502	0.07150	0.2318:0.0:0.4562:0.312	.	217	Q8N1N5	CRPAK_HUMAN	R	217	ENSP00000323978:S217R	ENSP00000323978:S217R	S	+	1	0	CRIPAK	1378948	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.649000	0.01993	-0.671000	0.05274	-0.530000	0.04314	AGT		0.662	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		4	25	4	25
NIPBL	25836	broad.mit.edu;hgsc.bcm.edu	37	5	37048690	37048693	+	Frame_Shift_Del	DEL	TCAG	TCAG	-			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr5:37048690_37048693delTCAG	ENST00000282516.8	+	39	7175_7178	c.6676_6679delTCAG	c.(6676-6681)tcagtcfs	p.SV2226fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.SV2226fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2226					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TAAGAACTCCTCAGTCAATTTAAA	0.353																																																0																																										SO:0001589	frameshift_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6676_6679delTCAG	5.37:g.37048690_37048693delTCAG	ENSP00000282516:p.Ser2226fs		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	37	CCDS3920.1																																																																																				0.353	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		25	37	25	37
