#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
C19orf26	255057	broad.mit.edu	37	19	1235018	1235018	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr19:1235018G>A	ENST00000382477.2	-	5	693	c.419C>T	c.(418-420)aCg>aTg	p.T140M	C19orf26_ENST00000590083.1_Missense_Mutation_p.T146M|C19orf26_ENST00000215376.6_Missense_Mutation_p.T140M			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	140						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGTCCTGCGTCTTGCGGCT	0.701										HNSCC(14;0.022)																												ENST00000590083.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(436-438)aCg>aTg		chromosome 19 open reading frame 26							22.0	25.0	24.0					19																	1235018		2196	4296	6492	SO:0001583	missense	255057					integral to membrane		g.chr19:1235018G>A	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.419C>T	19.37:g.1235018G>A	ENSP00000371917:p.Thr140Met	HNSCC(14;0.022)				C19orf26_ENST00000382477.2_Missense_Mutation_p.T140M|C19orf26_ENST00000215376.6_Missense_Mutation_p.T140M	p.T146M			Q8N350	DOS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	729	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	140					O43385	Missense_Mutation	SNP	ENST00000382477.2	37	c.437C>T		.	.	.	.	.	.	.	.	.	.	G	13.67	2.306661	0.40795	.	.	ENSG00000099625	ENST00000382477;ENST00000215376	.	.	.	3.64	3.64	0.41730	.	0.659654	0.14689	N	0.304255	T	0.19685	0.0473	N	0.19112	0.55	0.22446	N	0.999095	P	0.50710	0.938	B	0.41723	0.365	T	0.07462	-1.0771	9	0.72032	D	0.01	.	8.4625	0.32936	0.1115:0.0:0.8885:0.0	.	140	Q8N350-2	.	M	140	.	ENSP00000215376:T140M	T	-	2	0	C19orf26	1186018	0.997000	0.39634	0.107000	0.21349	0.095000	0.18619	4.848000	0.62874	2.026000	0.59711	0.561000	0.74099	ACG		0.701	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		5	42	0	0	0	0.217242	0	5	42				
NOTCH2	4853	broad.mit.edu	37	1	120471782	120471782	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:120471782T>C	ENST00000256646.2	-	23	3928	c.3709A>G	c.(3709-3711)Aat>Gat	p.N1237D		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1237	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGACCACCATTAAGGCAATGG	0.507			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(3709-3711)Aat>Gat		notch 2							66.0	64.0	65.0					1																	120471782		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120471782T>C	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3709A>G	1.37:g.120471782T>C	ENSP00000256646:p.Asn1237Asp						p.N1237D	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	23	3928	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1237			EGF-like 32; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.3709A>G	CCDS908.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329990	0.81690	.	.	ENSG00000134250	ENST00000256646	D	0.95035	-3.59	5.86	2.02	0.26589	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.180712	0.26373	U	0.024755	D	0.96762	0.8943	H	0.94847	3.59	0.58432	D	0.999998	D	0.56746	0.977	P	0.59703	0.862	D	0.96713	0.9527	10	0.59425	D	0.04	.	13.0836	0.59127	0.0:0.0:0.4071:0.5929	.	1237	Q04721	NOTC2_HUMAN	D	1237	ENSP00000256646:N1237D	ENSP00000256646:N1237D	N	-	1	0	NOTCH2	120273305	0.999000	0.42202	0.234000	0.24042	0.947000	0.59692	3.152000	0.50677	0.548000	0.28955	0.528000	0.53228	AAT		0.507	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		3	75	0	0	0	0.115264	0	3	75				
WDR5	11091	broad.mit.edu	37	9	137005847	137005847	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr9:137005847A>G	ENST00000358625.3	+	3	275	c.104A>G	c.(103-105)tAt>tGt	p.Y35C	WDR5_ENST00000425041.1_Missense_Mutation_p.Y35C	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	35					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|histone H3-K4 methylation (GO:0051568)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|positive regulation of gluconeogenesis (GO:0045722)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|histone acetyltransferase complex (GO:0000123)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		AAGCCAAACTATGCTCTAAAG	0.507																																						ENST00000358625.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(103-105)tAt>tGt		WD repeat domain 5							246.0	224.0	231.0					9																	137005847		2203	4300	6503	SO:0001583	missense	11091				histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding	g.chr9:137005847A>G	AJ011376	CCDS6981.1	9q34	2014-09-03			ENSG00000196363	ENSG00000196363		"""WD repeat domain containing"""	12757	protein-coding gene	gene with protein product	"""SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)"", ""cilia and flagella associated protein 89"""	609012				11551928	Standard	XM_005272163		Approved	SWD3, CFAP89	uc004cey.3	P61964	OTTHUMG00000131707	ENST00000358625.3:c.104A>G	9.37:g.137005847A>G	ENSP00000351446:p.Tyr35Cys					WDR5_ENST00000425041.1_Missense_Mutation_p.Y35C	p.Y35C	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)	3	275	+		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)	35					Q91VA5|Q9NWX7|Q9UGP9	Missense_Mutation	SNP	ENST00000358625.3	37	c.104A>G	CCDS6981.1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.791869	0.50102	.	.	ENSG00000196363	ENST00000358625;ENST00000425041	T;T	0.81415	-1.49;-1.49	4.78	4.78	0.61160	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.82066	0.4956	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82153	-0.0598	10	0.39692	T	0.17	.	13.4302	0.61051	1.0:0.0:0.0:0.0	.	35	P61964	WDR5_HUMAN	C	35	ENSP00000351446:Y35C;ENSP00000401889:Y35C	ENSP00000351446:Y35C	Y	+	2	0	WDR5	135995668	1.000000	0.71417	0.940000	0.37924	0.098000	0.18820	8.341000	0.90046	1.914000	0.55421	0.482000	0.46254	TAT		0.507	WDR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254621.1	NM_052821		4	297	0	0	0	0.184627	0	4	297				
FRYL	285527	broad.mit.edu	37	4	48517115	48517115	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr4:48517115C>T	ENST00000503238.1	-	53	7866	c.7867G>A	c.(7867-7869)Gtt>Att	p.V2623I	FRYL_ENST00000537810.1_Missense_Mutation_p.V2623I|FRYL_ENST00000358350.4_Missense_Mutation_p.V2623I|FRYL_ENST00000507873.2_Missense_Mutation_p.V19I|FRYL_ENST00000264319.7_Missense_Mutation_p.V19I			O94915	FRYL_HUMAN	FRY-like	2623					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GCTAAGGTAACATCCTCTTCA	0.423																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(7867-7869)Gtt>Att		FRY-like							162.0	147.0	152.0					4																	48517115		1874	4114	5988	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48517115C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7867G>A	4.37:g.48517115C>T	ENSP00000426064:p.Val2623Ile					FRYL_ENST00000503238.1_Missense_Mutation_p.V2623I|FRYL_ENST00000537810.1_Missense_Mutation_p.V2623I|FRYL_ENST00000507873.2_Missense_Mutation_p.V19I|FRYL_ENST00000264319.7_Missense_Mutation_p.V19I	p.V2623I	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			56	8471	-			2623					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.7867G>A	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567795	0.28003	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.24151	1.88;1.88;1.87	5.96	5.96	0.96718	.	0.357272	0.17701	U	0.164902	T	0.50446	0.1616	L	0.53249	1.67	0.47308	D	0.999387	B;B;D	0.67145	0.017;0.029;0.996	B;B;D	0.76071	0.021;0.06;0.987	T	0.34650	-0.9820	10	0.56958	D	0.05	.	20.394	0.98981	0.0:1.0:0.0:0.0	.	2623;2623;19	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	I	2623;2623;2623;19;19	ENSP00000426064:V2623I;ENSP00000351113:V2623I;ENSP00000441114:V2623I	ENSP00000264319:V19I	V	-	1	0	FRYL	48211872	0.998000	0.40836	0.171000	0.22900	0.176000	0.22953	4.703000	0.61824	2.830000	0.97506	0.585000	0.79938	GTT		0.423	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			8	132	0	0	0	0.278610	0	8	132				
ZNF33B	7582	broad.mit.edu	37	10	43089129	43089129	+	Silent	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr10:43089129G>A	ENST00000359467.3	-	5	1383	c.1269C>T	c.(1267-1269)taC>taT	p.Y423Y	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CAGATTTCTGGTAAAAAGTTT	0.418																																					Melanoma(137;1247 1767 16772 25727 43810)	ENST00000359467.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						c.(1267-1269)taC>taT		zinc finger protein 33B							105.0	106.0	106.0					10																	43089129		2203	4300	6503	SO:0001819	synonymous_variant	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43089129G>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.1269C>T	10.37:g.43089129G>A						ZNF33B_ENST00000486187.1_RNA	p.Y423Y	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN			5	1383	-			423					Q06731|Q32MA2|Q86XY8|Q8NDW3	Silent	SNP	ENST00000359467.3	37	c.1269C>T	CCDS7198.1																																																																																				0.418	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		6	121	0	0	0	0.217242	0	6	121				
ATAD3B	83858	broad.mit.edu	37	1	1431191	1431191	+	Silent	SNP	G	G	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:1431191G>T	ENST00000308647.7	+	16	2057	c.1941G>T	c.(1939-1941)ctG>ctT	p.L647L		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	647						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCACCCCCTGTTGTAGGCAC	0.657																																						ENST00000308647.7																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10						c.(1939-1941)ctG>ctT		ATPase family, AAA domain containing 3B							24.0	25.0	24.0					1																	1431191		2192	4289	6481	SO:0001819	synonymous_variant	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1431191G>T	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1941G>T	1.37:g.1431191G>T							p.L647L	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	16	2057	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	647					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP	ENST00000308647.7	37	c.1941G>T	CCDS30.1																																																																																				0.657	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		3	28	1	0	6.4e-05	0.115264	7.1e-05	3	28				
ADCY7	113	broad.mit.edu	37	16	50339454	50339454	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr16:50339454G>A	ENST00000394697.2	+	13	1976	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N	ADCY7_ENST00000254235.3_Missense_Mutation_p.D546N|ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000566433.2_Missense_Mutation_p.D546N|ADCY7_ENST00000538642.1_Missense_Mutation_p.D546N			P51828	ADCY7_HUMAN	adenylate cyclase 7	546					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		TGACTCGTACGATGACGAGAT	0.607																																						ENST00000394697.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35						c.(1636-1638)Gat>Aat		adenylate cyclase 7	Bromocriptine(DB01200)						182.0	167.0	172.0					16																	50339454		2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50339454G>A	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1636G>A	16.37:g.50339454G>A	ENSP00000378187:p.Asp546Asn					ADCY7_ENST00000254235.3_Missense_Mutation_p.D546N|ADCY7_ENST00000566433.2_Missense_Mutation_p.D546N|ADCY7_ENST00000538642.1_Missense_Mutation_p.D546N|ADCY7_ENST00000537579.1_Intron	p.D546N			P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	13	1976	+		all_cancers(37;0.0127)	546					A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.1636G>A	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	G	4.438	0.081020	0.08533	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	T;T;T	0.80909	-1.43;-1.43;-1.43	5.57	4.59	0.56863	.	0.190087	0.25261	N	0.031945	T	0.60932	0.2307	N	0.16166	0.38	0.80722	D	1	B;B	0.15141	0.003;0.012	B;B	0.18263	0.021;0.012	T	0.52102	-0.8620	10	0.07030	T	0.85	.	8.5882	0.33670	0.1152:0.0:0.8848:0.0	.	546;546	P51828;F5H4D1	ADCY7_HUMAN;.	N	546	ENSP00000445046:D546N;ENSP00000378187:D546N;ENSP00000254235:D546N	ENSP00000254235:D546N	D	+	1	0	ADCY7	48896955	0.573000	0.26676	0.044000	0.18714	0.053000	0.15095	1.373000	0.34272	1.245000	0.43885	0.543000	0.68304	GAT		0.607	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			5	216	0	0	0	0.217242	0	5	216				
DEFB116	245930	broad.mit.edu	37	20	29891116	29891116	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr20:29891116T>G	ENST00000400549.1	-	2	207	c.208A>C	c.(208-210)Aaa>Caa	p.K70Q		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	70					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ACAGAAAGTTTCAGGCAGCAC	0.398																																						ENST00000400549.1																			0				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12						c.(208-210)Aaa>Caa		defensin, beta 116							368.0	330.0	342.0					20																	29891116		1861	4097	5958	SO:0001583	missense	245930				defense response to bacterium	extracellular region		g.chr20:29891116T>G	DQ012020	CCDS42860.1	20q11.21	2008-07-17			ENSG00000215545	ENSG00000215545		"""Defensins, beta"""	18097	protein-coding gene	gene with protein product	"""defensin, beta 16"""					11854508, 16033865	Standard	NM_001037731		Approved	DEFB-16	uc010ztm.2	Q30KQ4	OTTHUMG00000159285	ENST00000400549.1:c.208A>C	20.37:g.29891116T>G	ENSP00000383396:p.Lys70Gln						p.K70Q	NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	207	-	all_hematologic(12;0.158)		70						Missense_Mutation	SNP	ENST00000400549.1	37	c.208A>C	CCDS42860.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.486636	0.44249	.	.	ENSG00000215545	ENST00000400549	T	0.16743	2.32	3.43	3.43	0.39272	.	.	.	.	.	T	0.22513	0.0543	N	0.24115	0.695	0.26724	N	0.970719	D	0.69078	0.997	P	0.61397	0.888	T	0.04522	-1.0945	9	0.87932	D	0	-17.2546	8.6029	0.33756	0.0:0.0:0.0:1.0	.	70	Q30KQ4	DB116_HUMAN	Q	70	ENSP00000383396:K70Q	ENSP00000383396:K70Q	K	-	1	0	DEFB116	29354777	0.877000	0.30153	0.770000	0.31555	0.444000	0.32077	1.289000	0.33307	1.809000	0.52856	0.533000	0.62120	AAA		0.398	DEFB116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354403.1	NM_001037731		4	371	0	0	0	0.150653	0	4	371				
PANK4	55229	broad.mit.edu	37	1	2440330	2440330	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:2440330G>A	ENST00000378466.3	-	19	2290	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	PANK4_ENST00000435556.3_Missense_Mutation_p.R721W	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	760					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CTGAAGAGCCGGCCGCCCAGC	0.622																																						ENST00000378466.3																			0				breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23						c.(2278-2280)Cgg>Tgg		pantothenate kinase 4							22.0	26.0	25.0					1																	2440330		2195	4295	6490	SO:0001583	missense	55229				coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2440330G>A	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.2278C>T	1.37:g.2440330G>A	ENSP00000367727:p.Arg760Trp					PANK4_ENST00000435556.3_Missense_Mutation_p.R721W	p.R760W	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	19	2290	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	760					B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	ENST00000378466.3	37	c.2278C>T	CCDS42.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494336	0.85069	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	T;T	0.07444	3.19;3.19	5.31	5.31	0.75309	Domain of unknown function DUF89 (1);	0.421129	0.24195	N	0.040674	T	0.11067	0.0270	L	0.41492	1.28	0.34733	D	0.729996	P;P	0.52577	0.954;0.904	B;P	0.46585	0.443;0.521	T	0.07616	-1.0763	10	0.72032	D	0.01	-14.7157	11.7596	0.51894	0.0:0.0:0.7197:0.2803	.	721;760	E9PHT6;Q9NVE7	.;PANK4_HUMAN	W	760;721	ENSP00000367727:R760W;ENSP00000421433:R721W	ENSP00000367727:R760W	R	-	1	2	PANK4	2430190	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.193000	0.72075	2.507000	0.84556	0.561000	0.74099	CGG		0.622	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1			17	22	0	0	0	0.575678	0	17	22				
CCNB1IP1	57820	broad.mit.edu	37	14	20779861	20779861	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:20779861C>T	ENST00000398169.3	-	7	1298	c.682G>A	c.(682-684)Gat>Aat	p.D228N	CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.D228N|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.D228N|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.D228N|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.D228N|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.D228N			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	228					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D228N(1)	HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		CCATCTCCATCGCCCCGATTT	0.398			T	HMGA2	leiomyoma																																	ENST00000398169.3				Dom	yes		14	14q11.2	57820	T	"""cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"""			M	HMGA2		leiomyoma	HMGA2/CCNB1IP1(2)	1	Substitution - Missense(1)	p.D228N(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9						c.(682-684)Gat>Aat		cyclin B1 interacting protein 1, E3 ubiquitin protein ligase							89.0	91.0	91.0					14																	20779861		2203	4300	6503	SO:0001583	missense	57820					chromosome|nucleus	ligase activity|metal ion binding|protein binding	g.chr14:20779861C>T	AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"""human enhancer of invasion 10"""	608249	"""chromosome 14 open reading frame 18"", ""cyclin B1 interacting protein 1"""	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.682G>A	14.37:g.20779861C>T	ENSP00000381235:p.Asp228Asn					CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.D228N|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.D228N|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.D228N|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.D228N|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.D228N	p.D228N			Q9NPC3	CIP1_HUMAN	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)	7	1298	-	all_cancers(95;0.00092)	all_lung(585;0.235)	228						Missense_Mutation	SNP	ENST00000398169.3	37	c.682G>A	CCDS9547.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125124	0.37533	.	.	ENSG00000100814	ENST00000398160;ENST00000398169;ENST00000358932;ENST00000353689;ENST00000437553;ENST00000398163	.	.	.	5.19	5.19	0.71726	.	0.198103	0.42172	D	0.000744	T	0.22322	0.0538	N	0.08118	0	0.23831	N	0.996726	B	0.02656	0.0	B	0.01281	0.0	T	0.10428	-1.0630	9	0.17832	T	0.49	-9.3444	12.3666	0.55232	0.0:0.8302:0.1698:0.0	.	228	Q9NPC3	CIP1_HUMAN	N	228	.	ENSP00000337396:D228N	D	-	1	0	CCNB1IP1	19849701	0.879000	0.30193	1.000000	0.80357	0.354000	0.29330	2.087000	0.41653	2.573000	0.86826	0.650000	0.86243	GAT		0.398	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073538.3	NM_021178, NM_182849, NM_182851, NM_182852		8	101	0	0	0	0.307466	0	8	101				
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr17:7577568C>T	ENST00000269305.4	-	7	902	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000420246.2_Missense_Mutation_p.C238Y|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y|TP53_ENST00000445888.2_Missense_Mutation_p.C238Y	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	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)	GGAACTGTTACACATGTAGTT	0.572		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(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	GRCh37	CM034930	TP53	M		c.(712-714)tGt>tAt	Other conserved DNA damage response genes	tumor protein p53							132.0	103.0	113.0					17																	7577568		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577568C>T	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.713G>A	17.37:g.7577568C>T	ENSP00000269305:p.Cys238Tyr	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)				TP53_ENST00000445888.2_Missense_Mutation_p.C238Y|TP53_ENST00000269305.4_Missense_Mutation_p.C238Y|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y	p.C238Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	845	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	238		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		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	c.713G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327056	0.81690	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	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	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238Y;ENSP00000352610:C238Y;ENSP00000269305:C238Y;ENSP00000398846:C238Y;ENSP00000391127:C238Y;ENSP00000391478:C238Y;ENSP00000425104:C106Y;ENSP00000423862:C145Y	ENSP00000269305:C238Y	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		39	60	0	0	0	0.853193	0	39	60				
RIOK3	8780	broad.mit.edu	37	18	21057190	21057190	+	Missense_Mutation	SNP	C	C	A	rs56187215		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr18:21057190C>A	ENST00000339486.3	+	11	1919	c.1302C>A	c.(1300-1302)caC>caA	p.H434Q	RIOK3_ENST00000577501.1_Missense_Mutation_p.H434Q|RIOK3_ENST00000581585.1_Missense_Mutation_p.H418Q	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	434	Protein kinase.				chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCCACCCTCACGGCCTGGAGT	0.413																																						ENST00000339486.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10						c.(1300-1302)caC>caA		RIO kinase 3							156.0	138.0	144.0					18																	21057190		2203	4300	6503	SO:0001583	missense	8780				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr18:21057190C>A	AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.1302C>A	18.37:g.21057190C>A	ENSP00000341874:p.His434Gln					RIOK3_ENST00000581585.1_Missense_Mutation_p.H418Q|RIOK3_ENST00000577501.1_Missense_Mutation_p.H434Q	p.H434Q	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN			11	1919	+	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)		434			Protein kinase.		Q8IXN9	Missense_Mutation	SNP	ENST00000339486.3	37	c.1302C>A	CCDS11877.1	.	.	.	.	.	.	.	.	.	.	c	14.50	2.553238	0.45487	.	.	ENSG00000101782	ENST00000339486	T	0.06294	3.32	5.96	-7.99	0.01131	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.096714	0.64402	D	0.000001	T	0.08403	0.0209	L	0.42632	1.34	0.45704	D	0.998611	P;P;P;P	0.45902	0.467;0.788;0.841;0.868	P;P;P;P	0.50970	0.527;0.557;0.524;0.655	T	0.02698	-1.1122	10	0.36615	T	0.2	-15.1387	15.2856	0.73826	0.0:0.5289:0.0:0.4711	.	178;418;434;434	E7ESK5;B4E1Q4;O14730-2;O14730	.;.;.;RIOK3_HUMAN	Q	434	ENSP00000341874:H434Q	ENSP00000341874:H434Q	H	+	3	2	RIOK3	19311188	0.985000	0.35326	0.894000	0.35097	0.960000	0.62799	0.182000	0.16900	-1.247000	0.02507	-0.972000	0.02603	CAC		0.413	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831		49	63	1	0	1.48341e-19	0.870114	1.69874e-19	49	63				
HSP90AB2P	391634	broad.mit.edu	37	4	13339305	13339305	+	RNA	SNP	A	A	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr4:13339305A>T	ENST00000602906.1	+	0	862							Q58FF8	H90B2_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			kidney(3)|lung(1)	4						AAAATCTTCAAAGTCATTCAC	0.423																																						ENST00000602906.1																			0				kidney(3)|lung(1)	4																																														0							g.chr4:13339305A>T	AY956763		4p15.33	2012-04-18	2011-04-15		ENSG00000205940	ENSG00000205940			32537	pseudogene	pseudogene			"""heat shock protein 90kDa alpha (cytosolic), class B member 2 (pseudogene)"""			16269234	Standard	NG_032979		Approved	HSP90BB		Q58FF8			4.37:g.13339305A>T														0	862	+									RNA	SNP	ENST00000602906.1	37																																																																																						0.423	HSP90AB2P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359156.2			7	21	0	0	0	0.248553	0	7	21				
SMARCA4	6597	broad.mit.edu	37	19	11098500	11098500	+	Missense_Mutation	SNP	G	G	A	rs371214327		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr19:11098500G>A	ENST00000429416.3	+	7	1299	c.1018G>A	c.(1018-1020)Gcg>Acg	p.A340T	SMARCA4_ENST00000413806.3_Missense_Mutation_p.A340T|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A340T|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A340T|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A340T|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A340T|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A340T|SMARCA4_ENST00000358026.2_Missense_Mutation_p.A340T|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A340T	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	340					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCCCAGCCCGCGCCCATGGT	0.746			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(1018-1020)Gcg>Acg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4		G	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4273		0,1,2136	9.0	13.0	12.0		1018,1018,1018,1018,1018,1018,1018	4.4	0.7	19		12	0,8316		0,0,4158	no	missense,missense,missense,missense,missense,missense,missense	SMARCA4	NM_001128844.1,NM_001128845.1,NM_001128846.1,NM_001128847.1,NM_001128848.1,NM_001128849.1,NM_003072.3	58,58,58,58,58,58,58	0,1,6294	AA,AG,GG		0.0,0.0234,0.0079	benign,benign,benign,benign,benign,benign,benign	340/1648,340/1618,340/1617,340/1615,340/1614,340/1680,340/1648	11098500	1,12589	2137	4158	6295	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11098500G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1018G>A	19.37:g.11098500G>A	ENSP00000395654:p.Ala340Thr					SMARCA4_ENST00000429416.3_Missense_Mutation_p.A340T|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A340T|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A340T|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A340T|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A340T|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A340T|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A340T|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A340T	p.A340T	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			6	1302	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	340					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.1018G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	9.744	1.165626	0.21538	2.34E-4	0.0	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	4.36	4.36	0.52297	.	0.202096	0.41823	D	0.000816	T	0.72740	0.3498	N	0.12746	0.255	0.21861	N	0.9995	B;B;B;B;B;B;B	0.23806	0.01;0.091;0.007;0.024;0.002;0.051;0.051	B;B;B;B;B;B;B	0.14578	0.006;0.006;0.006;0.011;0.006;0.004;0.004	T	0.55636	-0.8110	10	0.13108	T	0.6	-26.467	11.8129	0.52194	0.0:0.1778:0.8222:0.0	.	340;340;340;340;340;340;340	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	T	340	ENSP00000395654:A340T;ENSP00000350720:A340T;ENSP00000343896:A340T;ENSP00000445036:A340T;ENSP00000392837:A340T;ENSP00000397783:A340T;ENSP00000414727:A340T	ENSP00000343896:A340T	A	+	1	0	SMARCA4	10959500	0.178000	0.23122	0.671000	0.29857	0.965000	0.64279	0.612000	0.24283	2.265000	0.75225	0.561000	0.74099	GCG		0.746	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		11	6	0	0	0	0.387290	0	11	6				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|SNORD51_ENST00000384320.2_RNA|NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly					EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		4	122	0	0	0	0.184627	0	4	122				
ATRX	546	broad.mit.edu	37	X	76939522	76939522	+	Nonsense_Mutation	SNP	A	A	T	rs122445109		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chrX:76939522A>T	ENST00000373344.5	-	9	1440	c.1226T>A	c.(1225-1227)tTg>tAg	p.L409*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.L371*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	409			L -> S (in MRXSHF1). {ECO:0000269|PubMed:15565397}.		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						GTCTTCTTCCAATGCAAGATG	0.363			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(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	GRCh37	CM056937	ATRX	M	rs122445109	c.(1225-1227)tTg>tAg		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						190.0	194.0	193.0					X																	76939522		2203	4296	6499	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939522A>T	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.1226T>A	X.37:g.76939522A>T	ENSP00000362441:p.Leu409*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.L371*	p.L409*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1440	-			409		L -> S (in MRXSHF1).			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.1226T>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	a	37	6.491045	0.97612	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-5.2986	13.9857	0.64334	1.0:0.0:0.0:0.0	.	.	.	.	X	409;371;365	.	ENSP00000362441:L409X	L	-	2	0	ATRX	76826178	1.000000	0.71417	0.996000	0.52242	0.692000	0.40212	8.959000	0.93110	1.679000	0.50963	0.414000	0.27820	TTG		0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		219	56	0	0	0	0.870114	0	219	56				
ARF6	382	broad.mit.edu	37	14	50360497	50360497	+	Missense_Mutation	SNP	C	C	T	rs61754359		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:50360497C>T	ENST00000298316.5	+	2	590	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	15					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular component movement (GO:0006928)|cortical actin cytoskeleton organization (GO:0030866)|establishment of epithelial cell polarity (GO:0090162)|GTP catabolic process (GO:0006184)|hepatocyte apoptotic process (GO:0097284)|liver development (GO:0001889)|myeloid cell apoptotic process (GO:0033028)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|protein localization to cell surface (GO:0034394)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|regulation of dendritic spine development (GO:0060998)|regulation of filopodium assembly (GO:0051489)|regulation of Rac protein signal transduction (GO:0035020)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|thioesterase binding (GO:0031996)			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					CAAGGAAATGCGGATCCTCAT	0.597																																						ENST00000298316.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4						c.(43-45)Cgg>Tgg		ADP-ribosylation factor 6							73.0	75.0	74.0					14																	50360497		2203	4300	6503	SO:0001583	missense	382				cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport	cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle	GTP binding|GTPase activity|thioesterase binding	g.chr14:50360497C>T		CCDS9695.1	14q21.3	2004-06-21			ENSG00000165527	ENSG00000165527		"""ADP-ribosylation factors"""	659	protein-coding gene	gene with protein product		600464				1993656, 10343114	Standard	NM_001663		Approved		uc001wxg.4	P62330	OTTHUMG00000140296	ENST00000298316.5:c.43C>T	14.37:g.50360497C>T	ENSP00000298316:p.Arg15Trp						p.R15W	NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN			2	590	+	all_epithelial(31;0.000822)|Breast(41;0.0117)		15					P26438|Q6FGZ2	Missense_Mutation	SNP	ENST00000298316.5	37	c.43C>T	CCDS9695.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855359	0.71719	.	.	ENSG00000165527	ENST00000298316	D	0.83992	-1.79	4.62	4.62	0.57501	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94231	0.8148	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96414	0.9306	10	0.87932	D	0	-8.5664	17.0819	0.86601	0.0:1.0:0.0:0.0	rs61754359	15	P62330	ARF6_HUMAN	W	15	ENSP00000298316:R15W	ENSP00000298316:R15W	R	+	1	2	ARF6	49430247	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.001000	0.57046	2.127000	0.65507	0.491000	0.48974	CGG		0.597	ARF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276883.1	NM_001663		4	139	0	0	0	0.184627	0	4	139				
NID2	22795	broad.mit.edu	37	14	52520997	52520997	+	Silent	SNP	G	G	A	rs372334779		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:52520997G>A	ENST00000216286.5	-	4	809	c.810C>T	c.(808-810)atC>atT	p.I270I	NID2_ENST00000541773.1_Silent_p.I217I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	270	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AAGTGCTGCCGATATGGAAAG	0.502																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(808-810)atC>atT		nidogen 2 (osteonidogen)		G		0,4406		0,0,2203	49.0	50.0	50.0		810	-11.0	0.0	14		50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NID2	NM_007361.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		270/1376	52520997	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52520997G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.810C>T	14.37:g.52520997G>A						NID2_ENST00000541773.1_Silent_p.I217I	p.I270I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			4	809	-	Breast(41;0.0639)|all_epithelial(31;0.123)		270			NIDO.		A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.810C>T	CCDS9706.1																																																																																				0.502	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			4	62	0	0	0	0.184627	0	4	62				
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs201252723	byFrequency	TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104				TPTE2P6_ENST00000440905.1_RNA																							TTGAAACAGCTGGTGTATTAA	0.373																																						ENST00000453498.1																			0																																																			0							g.chr13:25168432T>C																													13.37:g.25168432T>C														0	1104	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.373	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	24	0	0	0	0.184627	0	4	24				
ATAD1	84896	broad.mit.edu	37	10	89536119	89536119	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr10:89536119T>G	ENST00000308448.7	-	6	1027	c.649A>C	c.(649-651)Atg>Ctg	p.M217L	ATAD1_ENST00000541004.1_Missense_Mutation_p.M217L|ATAD1_ENST00000400215.3_Missense_Mutation_p.M159L|ATAD1_ENST00000328142.3_Missense_Mutation_p.M217L	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	217					ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092)	cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		CAGAGACTCATAAACTGAGCT	0.378																																						ENST00000308448.7																			0				kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10						c.(649-651)Atg>Ctg		ATPase family, AAA domain containing 1							138.0	139.0	139.0					10																	89536119		2203	4300	6503	SO:0001583	missense	84896					peroxisome	ATP binding|nucleoside-triphosphatase activity	g.chr10:89536119T>G	AL834370	CCDS7386.1	10q23.31	2010-04-21		2007-02-08	ENSG00000138138	ENSG00000138138		"""ATPases / AAA-type"""	25903	protein-coding gene	gene with protein product		614452				12477932	Standard	NM_032810		Approved	FLJ14600	uc001kez.1	Q8NBU5	OTTHUMG00000018685	ENST00000308448.7:c.649A>C	10.37:g.89536119T>G	ENSP00000339017:p.Met217Leu					ATAD1_ENST00000541004.1_Missense_Mutation_p.M217L|ATAD1_ENST00000400215.3_Missense_Mutation_p.M159L|ATAD1_ENST00000328142.3_Missense_Mutation_p.M217L	p.M217L	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)	6	1027	-		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)	217					D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3	Missense_Mutation	SNP	ENST00000308448.7	37	c.649A>C	CCDS7386.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.818826	0.90873	.	.	ENSG00000138138	ENST00000308448;ENST00000328142;ENST00000400215;ENST00000541004	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	5.23	5.23	0.72850	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.83972	0.5370	N	0.01235	-0.94	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	D	0.85504	0.1193	9	.	.	.	-23.5277	15.4263	0.75055	0.0:0.0:0.0:1.0	.	159;217	B4E2J1;Q8NBU5	.;ATAD1_HUMAN	L	217;217;159;217	ENSP00000339017:M217L;ENSP00000339016:M217L;ENSP00000412968:M159L;ENSP00000445500:M217L	.	M	-	1	0	ATAD1	89526099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.673000	0.83973	2.099000	0.63709	0.460000	0.39030	ATG		0.378	ATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049235.1	NM_032810		11	193	0	0	0	0.457914	0	11	193				
MYH2	4620	broad.mit.edu	37	17	10451106	10451106	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr17:10451106T>A	ENST00000245503.5	-	3	516	c.132A>T	c.(130-132)aaA>aaT	p.K44N	MYH2_ENST00000532183.2_Missense_Mutation_p.K44N|MYH2_ENST00000397183.2_Missense_Mutation_p.K44N|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	44					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAAAGGATTCTTTGGGCTCCG	0.537																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(130-132)aaA>aaT		myosin, heavy chain 2, skeletal muscle, adult							126.0	120.0	122.0					17																	10451106		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10451106T>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.132A>T	17.37:g.10451106T>A	ENSP00000245503:p.Lys44Asn					CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.K44N|MYH2_ENST00000397183.2_Missense_Mutation_p.K44N	p.K44N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			3	516	-			44			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.132A>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.879490	0.51801	.	.	ENSG00000125414	ENST00000532288;ENST00000532183;ENST00000245503;ENST00000397183;ENST00000420805;ENST00000431502	D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78	5.67	1.39	0.22231	Myosin, N-terminal, SH3-like (1);	0.000000	0.40908	U	0.000998	D	0.89347	0.6689	M	0.85299	2.745	0.45087	D	0.998106	B;P	0.38745	0.384;0.645	B;P	0.56127	0.377;0.792	D	0.88269	0.2928	10	0.62326	D	0.03	.	10.4342	0.44426	0.0:0.652:0.0:0.348	.	44;44	Q567P6;Q9UKX2	.;MYH2_HUMAN	N	44	ENSP00000433944:K44N;ENSP00000245503:K44N;ENSP00000380367:K44N;ENSP00000399348:K44N;ENSP00000416072:K44N	ENSP00000245503:K44N	K	-	3	2	MYH2	10391831	0.000000	0.05858	1.000000	0.80357	0.970000	0.65996	-2.677000	0.00839	0.323000	0.23307	-0.248000	0.11899	AAA		0.537	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		81	112	0	0	0	0.870114	0	81	112				
TNFSF15	9966	broad.mit.edu	37	9	117552881	117552881	+	Missense_Mutation	SNP	C	C	T	rs150498686		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr9:117552881C>T	ENST00000374045.4	-	4	720	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	AL390240.1_ENST00000408807.1_RNA|TNFSF15_ENST00000374044.1_Missense_Mutation_p.E126K	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	203					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						CTACCTACTTCGCATACAGAC	0.527																																						ENST00000374045.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						c.(607-609)Gaa>Aaa		tumor necrosis factor (ligand) superfamily, member 15		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	181.0	146.0	158.0		430,607	6.0	1.0	9	dbSNP_134	158	0,8600		0,0,4300	no	missense,missense	TNFSF15	NM_001204344.1,NM_005118.3	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	144/193,203/252	117552881	1,13005	2203	4300	6503	SO:0001583	missense	9966				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117552881C>T	AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"""Tumor necrosis factor (ligand) superfamily"""	11931	protein-coding gene	gene with protein product	"""vascular endothelial cell growth inhibitor"", ""TNF superfamily ligand TL1A"", ""TNF ligand-related molecule 1"", ""vascular endothelial growth inhibitor-192A"""	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.607G>A	9.37:g.117552881C>T	ENSP00000363157:p.Glu203Lys					TNFSF15_ENST00000374044.1_Missense_Mutation_p.E126K	p.E203K	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN			4	720	-			203					Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Missense_Mutation	SNP	ENST00000374045.4	37	c.607G>A	CCDS6809.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974433	0.74246	2.27E-4	0.0	ENSG00000181634	ENST00000374045;ENST00000374044	D;D	0.94417	-3.42;-3.42	6.03	6.03	0.97812	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.131962	0.52532	D	0.000066	D	0.96046	0.8712	L	0.60455	1.87	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.91677	0.5355	10	0.02654	T	1	-32.6912	20.5568	0.99304	0.0:1.0:0.0:0.0	.	203;144	O95150;O95150-2	TNF15_HUMAN;.	K	203;126	ENSP00000363157:E203K;ENSP00000363156:E126K	ENSP00000363156:E126K	E	-	1	0	TNFSF15	116592702	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	4.049000	0.57397	2.861000	0.98227	0.655000	0.94253	GAA		0.527	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055424.2	NM_005118		10	61	0	0	0	0.335167	0	10	61				
SPEN	23013	broad.mit.edu	37	1	16242638	16242638	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:16242638A>G	ENST00000375759.3	+	6	1463	c.1259A>G	c.(1258-1260)aAt>aGt	p.N420S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	420					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAAAGTGAAAATGAATTTCGC	0.348																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(1258-1260)aAt>aGt		spen family transcriptional repressor							98.0	93.0	95.0					1																	16242638		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16242638A>G		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1259A>G	1.37:g.16242638A>G	ENSP00000364912:p.Asn420Ser						p.N420S	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	6	1463	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	420					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.1259A>G	CCDS164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.31|18.31	3.595829|3.595829	0.66332|0.66332	.|.	.|.	ENSG00000065526|ENSG00000065526	ENST00000442985|ENST00000375759	.|T	.|0.09911	.|2.93	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|.	.|.	.|.	.|.	T|T	0.23330|0.23330	0.0564|0.0564	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.80764	.|0.994	T|T	0.01042|0.01042	-1.1471|-1.1471	5|9	.|0.62326	.|D	.|0.03	-28.8779|-28.8779	16.2774|16.2774	0.82651|0.82651	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|420	.|Q96T58	.|MINT_HUMAN	V|S	160|420	.|ENSP00000364912:N420S	.|ENSP00000364912:N420S	M|N	+|+	1|2	0|0	SPEN|SPEN	16115225|16115225	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	8.846000|8.846000	0.92159|0.92159	2.247000|2.247000	0.74100|0.74100	0.482000|0.482000	0.46254|0.46254	ATG|AAT		0.348	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		4	69	0	0	0	0.150653	0	4	69				
FBN1	2200	broad.mit.edu	37	15	48773871	48773871	+	Silent	SNP	T	T	C			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr15:48773871T>C	ENST00000316623.5	-	32	4400	c.3945A>G	c.(3943-3945)aaA>aaG	p.K1315K		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1315	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGTTTTTCCTTTTTTGCCGG	0.363																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(3943-3945)aaA>aaG		fibrillin 1							125.0	122.0	123.0					15																	48773871		2198	4296	6494	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48773871T>C	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3945A>G	15.37:g.48773871T>C							p.K1315K	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	32	4400	-		all_lung(180;0.00279)	1315			EGF-like 21; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.3945A>G	CCDS32232.1																																																																																				0.363	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			3	134	0	0	0	0.150653	0	3	134				
TWISTNB	221830	broad.mit.edu	37	7	19738083	19738083	+	Silent	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr7:19738083G>A	ENST00000222567.5	-	4	943	c.873C>T	c.(871-873)gaC>gaT	p.D291D		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	291	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GGAAAACAGGGTCCTGGTCCT	0.438																																						ENST00000222567.5																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						c.(871-873)gaC>gaT		TWIST neighbor							194.0	215.0	208.0					7																	19738083		2203	4299	6502	SO:0001819	synonymous_variant	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19738083G>A	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.873C>T	7.37:g.19738083G>A							p.D291D	NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN			4	943	-			291			Lys-rich.		A0PJ45|B7Z724	Silent	SNP	ENST00000222567.5	37	c.873C>T	CCDS34606.1																																																																																				0.438	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			7	466	0	0	0	0.278610	0	7	466				
NCAM1	4684	broad.mit.edu	37	11	113076288	113076288	+	Silent	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr11:113076288G>A	ENST00000533760.1	+	4	635	c.36G>A	c.(34-36)cgG>cgA	p.R12R	NCAM1_ENST00000316851.7_Silent_p.R120R|NCAM1_ENST00000401611.2_Silent_p.R129R|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	130					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGGAGTTCCGGGAGGGGGAAG	0.507																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(358-360)cgG>cgA		neural cell adhesion molecule 1							109.0	110.0	109.0					11																	113076288		1986	4143	6129	SO:0001819	synonymous_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113076288G>A		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.36G>A	11.37:g.113076288G>A						NCAM1_ENST00000533760.1_Silent_p.R12R|NCAM1_ENST00000401611.2_Silent_p.R129R|NCAM1_ENST00000397957.4_3'UTR	p.R120R	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	3	360	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	130			Ig-like C2-type 2.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Silent	SNP	ENST00000533760.1	37	c.360G>A																																																																																					0.507	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		6	95	0	0	0	0.248553	0	6	95				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	63	0	0	0	0.639603	0	23	63				
ZZZ3	26009	broad.mit.edu	37	1	78041829	78041829	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:78041829G>A	ENST00000370801.3	-	12	2730	c.2255C>T	c.(2254-2256)cCg>cTg	p.P752L	ZZZ3_ENST00000370798.1_Missense_Mutation_p.P258L|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	752					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ATACACTGGCGGTTCATGTGA	0.378																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(2254-2256)cCg>cTg		zinc finger, ZZ-type containing 3							180.0	165.0	170.0					1																	78041829		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78041829G>A	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2255C>T	1.37:g.78041829G>A	ENSP00000359837:p.Pro752Leu					ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.P258L	p.P752L	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			12	2730	-			752					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.2255C>T	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914848	0.92178	.	.	ENSG00000036549	ENST00000370801;ENST00000370798	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.74831	0.3768	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	0.989;1.0;0.99	P;D;P	0.72982	0.579;0.979;0.82	T	0.76621	-0.2892	9	0.72032	D	0.01	.	19.4334	0.94781	0.0:0.0:1.0:0.0	.	258;752;751	Q8IYH5-3;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	L	752;258	.	ENSP00000359834:P258L	P	-	2	0	ZZZ3	77814417	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.185000	0.94900	2.649000	0.89929	0.655000	0.94253	CCG		0.378	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		38	62	0	0	0	0.804634	0	38	62				
NDN	4692	broad.mit.edu	37	15	23932264	23932264	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr15:23932264G>A	ENST00000331837.4	-	1	186	c.101C>T	c.(100-102)cCg>cTg	p.P34L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	34					axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGTCGCGGACGGAGGAACCCC	0.692									Prader-Willi syndrome																													ENST00000331837.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(100-102)cCg>cTg		necdin, melanoma antigen (MAGE) family member							12.0	12.0	12.0					15																	23932264		1715	3435	5150	SO:0001583	missense	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23932264G>A	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.101C>T	15.37:g.23932264G>A	ENSP00000332643:p.Pro34Leu						p.P34L	NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	186	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	34					B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.101C>T	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891073	0.33348	.	.	ENSG00000182636	ENST00000331837	T	0.02323	4.34	3.09	2.17	0.27698	.	1.110270	0.06821	N	0.792319	T	0.02012	0.0063	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.43893	-0.9363	10	0.52906	T	0.07	.	5.9999	0.19515	0.1427:0.0:0.8573:0.0	.	34	Q99608	NECD_HUMAN	L	34	ENSP00000332643:P34L	ENSP00000332643:P34L	P	-	2	0	NDN	21483357	0.345000	0.24835	0.001000	0.08648	0.012000	0.07955	0.702000	0.25631	0.865000	0.35603	0.561000	0.74099	CCG		0.692	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		6	26	0	0	0	0.248553	0	6	26				
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*	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	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)	CCTTCCACTCGGATAAGATGC	0.552		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(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	GRCh37	CM941329	TP53	M		c.(586-588)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							102.0	91.0	94.0					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578263G>A	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.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	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)				TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*	p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	31	0	0	0	0.681144	0	24	31				
NIF3L1	60491	broad.mit.edu	37	2	201757035	201757035	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr2:201757035C>G	ENST00000409020.1	+	2	663	c.369C>G	c.(367-369)atC>atG	p.I123M	NIF3L1_ENST00000416651.1_Missense_Mutation_p.I123M|NIF3L1_ENST00000409357.1_Missense_Mutation_p.I123M|NIF3L1_ENST00000359683.4_Missense_Mutation_p.I96M|NIF3L1_ENST00000409588.1_Missense_Mutation_p.I123M			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	123					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						GAGTCGGTATCTACTCTCCTC	0.527																																						ENST00000409020.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						c.(367-369)atC>atG		NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)							84.0	82.0	83.0					2																	201757035		1874	4101	5975	SO:0001583	missense	60491				positive regulation of transcription, DNA-dependent		transcription factor binding	g.chr2:201757035C>G	AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"""NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1"", ""NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"""	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.369C>G	2.37:g.201757035C>G	ENSP00000386394:p.Ile123Met					NIF3L1_ENST00000359683.4_Missense_Mutation_p.I96M|NIF3L1_ENST00000416651.1_Missense_Mutation_p.I123M|NIF3L1_ENST00000409588.1_Missense_Mutation_p.I123M|NIF3L1_ENST00000409357.1_Missense_Mutation_p.I123M	p.I123M			Q9GZT8	NIF3L_HUMAN			2	663	+			123					Q53TX4|Q6X735|Q9H2D2|Q9HC18	Missense_Mutation	SNP	ENST00000409020.1	37	c.369C>G	CCDS46485.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018115	0.54576	.	.	ENSG00000196290	ENST00000426253;ENST00000416651;ENST00000454952;ENST00000409020;ENST00000359683;ENST00000409357;ENST00000409129;ENST00000374679;ENST00000409588	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	4.84	2.94	0.34122	.	0.229552	0.44902	D	0.000405	T	0.63200	0.2491	M	0.82823	2.61	0.37889	D	0.930643	D;P	0.61697	0.99;0.785	D;P	0.69479	0.964;0.882	T	0.65100	-0.6250	10	0.87932	D	0	-19.7712	3.6943	0.08358	0.0:0.4241:0.1843:0.3916	.	123;123	Q6X735;Q9GZT8	.;NIF3L_HUMAN	M	96;123;123;123;96;123;96;123;123	ENSP00000412761:I96M;ENSP00000400787:I123M;ENSP00000394955:I123M;ENSP00000386394:I123M;ENSP00000352711:I96M;ENSP00000387315:I123M;ENSP00000387061:I96M;ENSP00000387021:I123M	ENSP00000352711:I96M	I	+	3	3	NIF3L1	201465280	1.000000	0.71417	0.980000	0.43619	0.853000	0.48598	0.724000	0.25954	0.545000	0.28902	0.455000	0.32223	ATC		0.527	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1	NM_021824		3	88	0	0	0	0.115264	0	3	88				
ZNF658	26149	broad.mit.edu	37	9	40774421	40774421	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr9:40774421A>G	ENST00000602553.1	-	5	1148	c.854T>C	c.(853-855)gTt>gCt	p.V285A	ZNF658_ENST00000377626.3_Missense_Mutation_p.V285A|ZNF658_ENST00000441795.1_Missense_Mutation_p.V283A			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATTGTATTCAACAGCGGTGGT	0.388																																						ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(853-855)gTt>gCt		zinc finger protein 658							105.0	108.0	107.0					9																	40774421		2203	4297	6500	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40774421A>G	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.854T>C	9.37:g.40774421A>G	ENSP00000473484:p.Val285Ala					ZNF658_ENST00000441795.1_Missense_Mutation_p.V283A|ZNF658_ENST00000377626.3_Missense_Mutation_p.V285A	p.V285A			Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	1148	-			285					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.854T>C	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	a	2.159	-0.392534	0.04899	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.05139	3.63;3.49	2.15	-0.47	0.12131	.	.	.	.	.	T	0.02848	0.0085	N	0.17631	0.505	0.09310	N	1	B;B	0.14012	0.009;0.002	B;B	0.06405	0.002;0.001	T	0.46816	-0.9164	9	0.06757	T	0.87	.	2.0618	0.03594	0.4428:0.0:0.3103:0.2469	.	285;285	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	A	283;285	ENSP00000408462:V283A;ENSP00000366853:V285A	ENSP00000366853:V285A	V	-	2	0	ZNF658	40764421	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	-1.553000	0.02174	-0.088000	0.12506	0.321000	0.21382	GTT		0.388	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		10	219	0	0	0	0.479597	0	10	219				
KRT76	51350	broad.mit.edu	37	12	53169301	53169301	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr12:53169301C>T	ENST00000332411.2	-	2	739	c.686G>A	c.(685-687)aGc>aAc	p.S229N		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	229	Linker 1.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGGCTCCAGGCTGCTGGGCCC	0.557																																						ENST00000332411.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(685-687)aGc>aAc		keratin 76							124.0	127.0	126.0					12																	53169301		2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53169301C>T	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.686G>A	12.37:g.53169301C>T	ENSP00000330101:p.Ser229Asn						p.S229N	NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN			2	739	-			229			Linker 1.|Rod.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.686G>A	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	C	0.040	-1.288775	0.01387	.	.	ENSG00000185069	ENST00000332411	T	0.75367	-0.93	4.29	3.05	0.35203	Filament (1);	0.128334	0.35151	N	0.003406	T	0.36220	0.0959	N	0.00754	-1.215	0.30827	N	0.737114	B	0.18741	0.03	B	0.15052	0.012	T	0.43653	-0.9378	10	0.02654	T	1	.	8.4481	0.32854	0.0:0.1117:0.0:0.8882	.	229	Q01546	K22O_HUMAN	N	229	ENSP00000330101:S229N	ENSP00000330101:S229N	S	-	2	0	KRT76	51455568	0.189000	0.23263	0.865000	0.33974	0.284000	0.27059	-0.090000	0.11163	0.670000	0.31165	0.462000	0.41574	AGC		0.557	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		75	99	0	0	0	0.870114	0	75	99				
MUC21	394263	broad.mit.edu	37	6	30954953	30954953	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr6:30954953A>T	ENST00000376296.3	+	2	1242	c.1001A>T	c.(1000-1002)gAg>gTg	p.E334V	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	334	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCAACTCTGAGTCCAGCACG	0.622																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1000-1002)gAg>gTg		mucin 21, cell surface associated							139.0	140.0	139.0					6																	30954953		2202	4296	6498	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954953A>T	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1001A>T	6.37:g.30954953A>T	ENSP00000365473:p.Glu334Val					MUC21_ENST00000486149.2_5'UTR	p.E334V	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	1242	+			334			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.1001A>T	CCDS34388.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	11.39|11.39	1.623583|1.623583	0.28889|0.28889	.|.	.|.	ENSG00000204544|ENSG00000204544	ENST00000450707|ENST00000376296	.|T	.|0.02050	.|4.48	4.44|4.44	-8.89|-8.89	0.00785|0.00785	.|.	.|.	.|.	.|.	.|.	.|T	.|0.00328	.|0.0010	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B	.|0.25441	.|0.126	.|B	.|0.22880	.|0.042	.|T	.|0.48139	.|-0.9061	.|8	.|.	.|.	.|.	.|3.5	0.6308|0.6308	0.00794|0.00794	0.3354:0.207:0.2691:0.1885|0.3354:0.207:0.2691:0.1885	.|.	.|334	.|Q5SSG8	.|MUC21_HUMAN	.|V	-1|334	.|ENSP00000365473:E334V	.|.	.|E	+|+	.|2	.|0	MUC21|MUC21	31062932|31062932	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-3.807000|-3.807000	0.00361|0.00361	-2.230000|-2.230000	0.00719|0.00719	0.482000|0.482000	0.46254|0.46254	.|GAG		0.622	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		15	411	0	0	0	0.500413	0	15	411				
HSD11B1	3290	broad.mit.edu	37	1	209880366	209880366	+	Missense_Mutation	SNP	G	G	A	rs376208100		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:209880366G>A	ENST00000367028.2	+	5	579	c.410G>A	c.(409-411)cGc>cAc	p.R137H	RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000367027.3_Missense_Mutation_p.R137H|HSD11B1_ENST00000261465.1_Missense_Mutation_p.R137H	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	137					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	CACCATGTGCGCAAAAGCATG	0.448																																						ENST00000367028.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16						c.(409-411)cGc>cAc		hydroxysteroid (11-beta) dehydrogenase 1	NADH(DB00157)	G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	189.0	164.0	172.0		410,410,410	4.1	1.0	1		172	0,8600		0,0,4300	no	missense,missense,missense	HSD11B1	NM_001206741.1,NM_005525.3,NM_181755.2	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	137/293,137/293,137/293	209880366	1,13005	2203	4300	6503	SO:0001583	missense	3290				glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding	g.chr1:209880366G>A	BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5208	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 26C, member 1"""	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.410G>A	1.37:g.209880366G>A	ENSP00000355995:p.Arg137His					RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000367027.3_Missense_Mutation_p.R137H|HSD11B1_ENST00000261465.1_Missense_Mutation_p.R137H	p.R137H	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	5	579	+			137					B2R9Z1|D3DT89	Missense_Mutation	SNP	ENST00000367028.2	37	c.410G>A	CCDS1489.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937659	0.52972	2.27E-4	0.0	ENSG00000117594	ENST00000367028;ENST00000261465;ENST00000367027	D;D;D	0.87887	-2.31;-2.31;-2.31	5.05	4.05	0.47172	NAD(P)-binding domain (1);	0.265411	0.39341	N	0.001395	D	0.89146	0.6632	L	0.51853	1.615	0.44268	D	0.997126	D	0.89917	1.0	D	0.67900	0.954	D	0.86710	0.1935	10	0.38643	T	0.18	.	9.5098	0.39069	0.0766:0.0:0.7787:0.1447	.	137	P28845	DHI1_HUMAN	H	137	ENSP00000355995:R137H;ENSP00000261465:R137H;ENSP00000355994:R137H	ENSP00000261465:R137H	R	+	2	0	HSD11B1	207946989	0.908000	0.30866	0.975000	0.42487	0.980000	0.70556	1.464000	0.35288	2.737000	0.93849	0.563000	0.77884	CGC		0.448	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088743.2	NM_005525		4	120	0	0	0	0.150653	0	4	120				
TCEAL6	158931	broad.mit.edu	37	X	101395952	101395952	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chrX:101395952T>C	ENST00000372774.3	-	3	601	c.352A>G	c.(352-354)Acg>Gcg	p.T118A	TCEAL6_ENST00000372773.1_Missense_Mutation_p.T118A	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						GAATCGTCCGTCCCCCTGTCT	0.577																																						ENST00000372774.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						c.(352-354)Acg>Gcg		transcription elongation factor A (SII)-like 6							110.0	102.0	105.0					X																	101395952		2203	4300	6503	SO:0001583	missense	158931				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101395952T>C	BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.352A>G	X.37:g.101395952T>C	ENSP00000361860:p.Thr118Ala					TCEAL6_ENST00000372773.1_Missense_Mutation_p.T118A	p.T118A	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN			3	601	-			118					Q5H9J8	Missense_Mutation	SNP	ENST00000372774.3	37	c.352A>G	CCDS43978.1	.	.	.	.	.	.	.	.	.	.	G	7.156	0.584740	0.13749	.	.	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.09538	2.97;2.97	2.75	0.148	0.14843	.	0.189930	0.26023	N	0.026805	T	0.23370	0.0565	M	0.79258	2.445	0.09310	N	1	D	0.67145	0.996	D	0.76071	0.987	T	0.20907	-1.0261	10	0.13470	T	0.59	.	6.5569	0.22466	0.0:0.0:0.5068:0.4932	.	118	Q6IPX3-2	.	A	118	ENSP00000361860:T118A;ENSP00000361859:T118A	ENSP00000361859:T118A	T	-	1	0	TCEAL6	101282608	0.000000	0.05858	0.002000	0.10522	0.263000	0.26337	-0.620000	0.05565	-0.047000	0.13423	0.381000	0.24937	ACG		0.577	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938		3	99	0	0	0	0.115264	0	3	99				
MUC16	94025	broad.mit.edu	37	19	9086351	9086351	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr19:9086351T>A	ENST00000397910.4	-	1	5667	c.5464A>T	c.(5464-5466)Act>Tct	p.T1822S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1822	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTGATGGAGTTGGAGATGGA	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(5464-5466)Act>Tct		mucin 16, cell surface associated							176.0	169.0	172.0					19																	9086351		1938	4147	6085	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086351T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5464A>T	19.37:g.9086351T>A	ENSP00000381008:p.Thr1822Ser						p.T1822S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	5667	-			1822			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.5464A>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	7.031	0.560657	0.13498	.	.	ENSG00000181143	ENST00000397910	T	0.02369	4.32	0.513	-1.03	0.10102	.	.	.	.	.	T	0.03095	0.0091	N	0.08118	0	.	.	.	P	0.49696	0.927	P	0.56563	0.801	T	0.44467	-0.9326	7	0.87932	D	0	.	.	.	.	.	1822	B5ME49	.	S	1822	ENSP00000381008:T1822S	ENSP00000381008:T1822S	T	-	1	0	MUC16	8947351	0.000000	0.05858	0.050000	0.19076	0.684000	0.39900	-1.546000	0.02188	-0.598000	0.05806	0.254000	0.18369	ACT		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	123	0	0	0	0.307466	0	8	123				
CSMD2	114784	broad.mit.edu	37	1	34238304	34238304	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:34238304C>T	ENST00000338325.1	-	7	948	c.536G>A	c.(535-537)cGg>cAg	p.R179Q	CSMD2_ENST00000373381.4_Missense_Mutation_p.R571Q			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	531	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCTTCCCTCCGGCCATATGC	0.522																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(1711-1713)cGg>cAg		CUB and Sushi multiple domains 2							93.0	91.0	92.0					1																	34238304		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34238304C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000338325.1:c.536G>A	1.37:g.34238304C>T	ENSP00000340311:p.Arg179Gln					CSMD2_ENST00000338325.1_Missense_Mutation_p.R179Q	p.R571Q	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			13	1888	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	531			Sushi 3.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000338325.1	37	c.1712G>A		.	.	.	.	.	.	.	.	.	.	C	14.21	2.467050	0.43839	.	.	ENSG00000121904	ENST00000373381;ENST00000338325	T;T	0.63255	-0.03;-0.03	6.06	0.689	0.18033	Complement control module (2);Sushi/SCR/CCP (3);	0.190177	0.44097	N	0.000482	T	0.46171	0.1379	L	0.48935	1.535	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.13407	0.009;0.005	T	0.14337	-1.0476	10	0.27082	T	0.32	.	3.8697	0.09031	0.2561:0.4376:0.0:0.3063	.	531;571	Q7Z408;E7EUA6	CSMD2_HUMAN;.	Q	571;179	ENSP00000362479:R571Q;ENSP00000340311:R179Q	ENSP00000241312:R531Q	R	-	2	0	CSMD2	34010891	0.761000	0.28439	0.987000	0.45799	0.987000	0.75469	0.464000	0.21988	-0.117000	0.11872	-0.137000	0.14449	CGG		0.522	CSMD2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000036404.2	NM_052896		4	120	0	0	0	0.184627	0	4	120				
NPAT	4863	broad.mit.edu	37	11	108043929	108043929	+	Silent	SNP	A	A	G	rs192893789	byFrequency	TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr11:108043929A>G	ENST00000278612.8	-	13	1887	c.1782T>C	c.(1780-1782)aaT>aaC	p.N594N	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	594					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TATCTTGGCAATTTGATAGCT	0.313													A|||	3	0.000599042	0.0	0.0029	5008	,	,		19654	0.0		0.0	False		,,,				2504	0.001					ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(1780-1782)aaT>aaC		nuclear protein, ataxia-telangiectasia locus							123.0	118.0	119.0					11																	108043929		1828	4082	5910	SO:0001819	synonymous_variant	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108043929A>G	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1782T>C	11.37:g.108043929A>G							p.N594N	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	13	1887	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	594					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	ENST00000278612.8	37	c.1782T>C	CCDS41710.1																																																																																				0.313	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		9	117	0	0	0	0.307466	0	9	117				
PHF10	55274	broad.mit.edu	37	6	170112612	170112612	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr6:170112612T>C	ENST00000339209.4	-	8	950	c.827A>G	c.(826-828)tAt>tGt	p.Y276C	PHF10_ENST00000366780.4_Missense_Mutation_p.Y274C	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	276	SAY.				nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TAATGGCAGATACCGCAGCTC	0.438																																						ENST00000339209.4																			0				endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14						c.(826-828)tAt>tGt		PHD finger protein 10							122.0	120.0	121.0					6																	170112612		2203	4300	6503	SO:0001583	missense	55274				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding	g.chr6:170112612T>C	AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"""Zinc fingers, PHD-type"""	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.827A>G	6.37:g.170112612T>C	ENSP00000341805:p.Tyr276Cys					PHF10_ENST00000366780.4_Missense_Mutation_p.Y274C	p.Y276C	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)	8	950	-		Breast(66;5.08e-05)|Ovarian(120;0.208)	276			SAY.		Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	ENST00000339209.4	37	c.827A>G	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	T	22.1	4.244904	0.79912	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	D;D	0.89810	-2.57;-2.57	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.91700	0.7376	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	0.981;1.0;1.0	P;D;D	0.91635	0.777;0.999;0.964	D	0.92506	0.6012	10	0.59425	D	0.04	-22.5671	14.8138	0.70017	0.0:0.0:0.0:1.0	.	188;274;276	Q5T069;Q8WUB8-2;Q8WUB8	.;.;PHF10_HUMAN	C	274;276	ENSP00000355743:Y274C;ENSP00000341805:Y276C	ENSP00000341805:Y276C	Y	-	2	0	PHF10	169854537	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	7.414000	0.80117	2.160000	0.67779	0.477000	0.44152	TAT		0.438	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		8	109	0	0	0	0.335167	0	8	109				
CBLN4	140689	broad.mit.edu	37	20	54573805	54573805	+	Silent	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr20:54573805G>A	ENST00000064571.2	-	3	1714	c.414C>T	c.(412-414)aaC>aaT	p.N138N		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	138	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TTAACATCAAGTTAACCTAGA	0.363																																						ENST00000064571.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17						c.(412-414)aaC>aaT		cerebellin 4 precursor							50.0	48.0	49.0					20																	54573805		2203	4300	6503	SO:0001819	synonymous_variant	140689					cell junction|extracellular region|synapse		g.chr20:54573805G>A	AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.414C>T	20.37:g.54573805G>A							p.N138N	NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	Colorectal(105;0.202)		3	1714	-			138			C1q.		A8K0S5	Silent	SNP	ENST00000064571.2	37	c.414C>T	CCDS13448.1																																																																																				0.363	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617		3	42	0	0	0	0.150653	0	3	42				
ATXN2L	11273	broad.mit.edu	37	16	28846974	28846974	+	Silent	SNP	T	T	C			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr16:28846974T>C	ENST00000336783.4	+	21	2957	c.2790T>C	c.(2788-2790)ccT>ccC	p.P930P	ATXN2L_ENST00000564304.1_Silent_p.P936P|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000340394.8_Silent_p.P930P|ATXN2L_ENST00000382686.4_Silent_p.P930P|ATXN2L_ENST00000325215.6_Silent_p.P930P|ATXN2L_ENST00000570200.1_Silent_p.P930P|ATXN2L_ENST00000395547.2_Silent_p.P930P	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	930					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CACCGGGACCTTCTGCCCAGT	0.662																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(2788-2790)ccT>ccC		ataxin 2-like							47.0	45.0	45.0					16																	28846974		2197	4300	6497	SO:0001819	synonymous_variant	11273					membrane		g.chr16:28846974T>C		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2790T>C	16.37:g.28846974T>C						RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Silent_p.P930P|ATXN2L_ENST00000564304.1_Silent_p.P936P|ATXN2L_ENST00000395547.2_Silent_p.P930P|ATXN2L_ENST00000340394.8_Silent_p.P930P|ATXN2L_ENST00000382686.4_Silent_p.P930P|ATXN2L_ENST00000325215.6_Silent_p.P930P	p.P930P	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			21	2957	+			930					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	ENST00000336783.4	37	c.2790T>C	CCDS10641.1																																																																																				0.662	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		8	69	0	0	0	0.335167	0	8	69				
MSX2	4488	broad.mit.edu	37	5	174156254	174156254	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr5:174156254G>A	ENST00000239243.6	+	2	599	c.472G>A	c.(472-474)Gag>Aag	p.E158K	MSX2_ENST00000507785.1_3'UTR	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	158					activation of meiosis (GO:0090427)|anagen (GO:0042640)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone trabecula formation (GO:0060346)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte development (GO:0002063)|cranial suture morphogenesis (GO:0060363)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|enamel mineralization (GO:0070166)|endochondral bone growth (GO:0003416)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|frontal suture morphogenesis (GO:0060364)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of catagen (GO:0051795)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of osteoblast differentiation (GO:0045669)|signal transduction involved in regulation of gene expression (GO:0023019)|wound healing, spreading of epidermal cells (GO:0035313)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCTCGCCCTGGAGCGCAAGTT	0.552																																						ENST00000239243.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						c.(472-474)Gag>Aag		msh homeobox 2							65.0	58.0	61.0					5																	174156254		2203	4300	6503	SO:0001583	missense	4488				cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:174156254G>A	D26145	CCDS4392.1	5q35.2	2011-06-20	2006-11-21		ENSG00000120149	ENSG00000120149		"""Homeoboxes / ANTP class : NKL subclass"""	7392	protein-coding gene	gene with protein product	"""craniosynostosis, type 2"""	123101	"""msh (Drosophila) homeo box homolog 2"", ""parietal foramina 1"", ""msh homeobox homolog 2 (Drosophila)"""	PFM1		8668339, 8786091	Standard	XM_006714868		Approved	CRS2, FPP, HOX8, MSH, PFM	uc003mcy.3	P35548	OTTHUMG00000130556	ENST00000239243.6:c.472G>A	5.37:g.174156254G>A	ENSP00000239243:p.Glu158Lys					MSX2_ENST00000507785.1_3'UTR	p.E158K	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	599	+	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	158					D3DQN1|Q53XM4|Q9UD60	Missense_Mutation	SNP	ENST00000239243.6	37	c.472G>A	CCDS4392.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453551	0.96223	.	.	ENSG00000120149	ENST00000239243	D	0.97575	-4.44	5.72	5.72	0.89469	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98899	0.9627	M	0.92412	3.305	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99445	1.0939	10	0.87932	D	0	-22.3192	19.8548	0.96752	0.0:0.0:1.0:0.0	.	158	P35548	MSX2_HUMAN	K	158	ENSP00000239243:E158K	ENSP00000239243:E158K	E	+	1	0	MSX2	174088860	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	9.807000	0.99171	2.702000	0.92279	0.591000	0.81541	GAG		0.552	MSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252981.3			4	72	0	0	0	0.184627	0	4	72				
SCN8A	6334	broad.mit.edu	37	12	52200839	52200839	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr12:52200839G>A	ENST00000354534.6	+	27	5747	c.5569G>A	c.(5569-5571)Gga>Aga	p.G1857R	AC068987.1_ENST00000599343.1_5'Flank|RP11-923I11.3_ENST00000565518.1_lincRNA|SCN8A_ENST00000545061.1_Missense_Mutation_p.G1816R	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1857					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GCGGGTCCTGGGAGATAGCGG	0.547																																						ENST00000354534.5																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(5569-5571)Gga>Aga		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						95.0	103.0	100.0					12																	52200839		2114	4247	6361	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52200839G>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5569G>A	12.37:g.52200839G>A	ENSP00000346534:p.Gly1857Arg					SCN8A_ENST00000545061.1_Missense_Mutation_p.G1816R	p.G1857R	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	5747	+			1857					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.5569G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827362	0.71143	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.96619	-4.07;-3.98	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.98466	0.9489	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99297	1.0900	10	0.87932	D	0	.	18.6609	0.91471	0.0:0.0:1.0:0.0	.	1857	Q9UQD0	SCN8A_HUMAN	R	1857;1816	ENSP00000346534:G1857R;ENSP00000440360:G1816R	ENSP00000346534:G1857R	G	+	1	0	SCN8A	50487106	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.657000	0.98554	2.724000	0.93272	0.561000	0.74099	GGA		0.547	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		8	186	0	0	0	0.335167	0	8	186				
CDC42BPB	9578	broad.mit.edu	37	14	103430859	103430859	+	Silent	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:103430859G>A	ENST00000361246.2	-	19	2994	c.2706C>T	c.(2704-2706)gaC>gaT	p.D902D		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGAGGTTGGCGTCCTTGACCT	0.652																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(2704-2706)gaC>gaT		CDC42 binding protein kinase beta (DMPK-like)							73.0	66.0	69.0					14																	103430859		2203	4300	6503	SO:0001819	synonymous_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103430859G>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.2706C>T	14.37:g.103430859G>A							p.D902D	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	19	2994	-		Melanoma(154;0.155)	902						Silent	SNP	ENST00000361246.2	37	c.2706C>T	CCDS9978.1																																																																																				0.652	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035		13	51	0	0	0	0.479597	0	13	51				
RBMXL1	494115	broad.mit.edu	37	1	89448635	89448635	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:89448635C>T	ENST00000321792.5	-	2	1302	c.875G>A	c.(874-876)cGt>cAt	p.R292H	CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.R292H|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000413769.1_5'Flank	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	292	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										TGGAGCACTACGTGAGTTACC	0.483																																						ENST00000399794.2																			0											c.(874-876)cGt>cAt		RNA binding motif protein, X-linked-like 1							193.0	188.0	190.0					1																	89448635		2203	4300	6503	SO:0001583	missense	494115						nucleotide binding|RNA binding	g.chr1:89448635C>T	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.875G>A	1.37:g.89448635C>T	ENSP00000318415:p.Arg292His					CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.R292H	p.R292H	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN			3	1590	-			292			Ser-rich.			Missense_Mutation	SNP	ENST00000321792.5	37	c.875G>A	CCDS716.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413099	0.25465	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.75477	-0.94;-0.94	1.89	0.911	0.19343	.	0.000000	0.85682	D	0.000000	T	0.39200	0.1069	L	0.39898	1.24	0.33028	D	0.529768	B	0.22851	0.076	B	0.15484	0.013	T	0.03863	-1.0997	10	0.28530	T	0.3	-3.1185	5.9449	0.19213	0.0:0.813:0.0:0.187	.	292	Q96E39	RBMXL_HUMAN	H	292	ENSP00000318415:R292H;ENSP00000446099:R292H	ENSP00000318415:R292H	R	-	2	0	RBMXL1	89221223	1.000000	0.71417	0.995000	0.50966	0.922000	0.55478	3.415000	0.52700	0.129000	0.18514	0.306000	0.20318	CGT		0.483	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		18	273	0	0	0	0.557998	0	18	273				
REM2	161253	broad.mit.edu	37	14	23354069	23354069	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:23354069C>T	ENST00000267396.4	+	2	413	c.290C>T	c.(289-291)tCg>tTg	p.S97L	REM2_ENST00000536884.1_Missense_Mutation_p.S97L	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	97					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		TCCTCTGGCTCGTCTGACTCC	0.612																																						ENST00000267396.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5						c.(289-291)tCg>tTg		RAS (RAD and GEM)-like GTP binding 2							39.0	44.0	42.0					14																	23354069		2177	4277	6454	SO:0001583	missense	161253				regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding	g.chr14:23354069C>T		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"""RAS (RAD and GEM) like GTP binding 2"""			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.290C>T	14.37:g.23354069C>T	ENSP00000267396:p.Ser97Leu					REM2_ENST00000536884.1_Missense_Mutation_p.S97L	p.S97L	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN		GBM - Glioblastoma multiforme(265;0.012)	2	413	+	all_cancers(95;4.69e-05)		97					B7Z5P1|Q8N8R8	Missense_Mutation	SNP	ENST00000267396.4	37	c.290C>T	CCDS45082.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845185	0.71603	.	.	ENSG00000139890	ENST00000267396;ENST00000536884	T;T	0.68765	-0.35;1.24	6.02	6.02	0.97574	.	0.185831	0.48767	D	0.000180	T	0.57695	0.2071	L	0.29908	0.895	0.38903	D	0.957359	D;P	0.55800	0.973;0.635	B;B	0.43018	0.405;0.06	T	0.61491	-0.7052	10	0.41790	T	0.15	.	15.466	0.75400	0.0:0.8609:0.1391:0.0	.	97;97	B7Z5P1;Q8IYK8	.;REM2_HUMAN	L	97	ENSP00000267396:S97L;ENSP00000442774:S97L	ENSP00000267396:S97L	S	+	2	0	REM2	22423909	0.316000	0.24580	0.988000	0.46212	0.749000	0.42624	2.048000	0.41278	2.865000	0.98341	0.655000	0.94253	TCG		0.612	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	NM_173527		11	82	0	0	0	0.435327	0	11	82				
DNAH8	1769	broad.mit.edu	37	6	38976646	38976646	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr6:38976646A>G	ENST00000359357.3	+	87	12874	c.12620A>G	c.(12619-12621)aAa>aGa	p.K4207R	DNAH8_ENST00000441566.1_Missense_Mutation_p.K4171R			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4207					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTCAACCCAAAGAGAGTGGA	0.423																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(12619-12621)aAa>aGa		dynein, axonemal, heavy chain 8							146.0	153.0	150.0					6																	38976646		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38976646A>G	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12620A>G	6.37:g.38976646A>G	ENSP00000352312:p.Lys4207Arg					DNAH8_ENST00000441566.1_Missense_Mutation_p.K4171R	p.K4207R							87	12874	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.12620A>G		.	.	.	.	.	.	.	.	.	.	A	33	5.198739	0.94997	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.08193	3.12;3.12;3.12	5.68	5.68	0.88126	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	L	0.48174	1.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.20840	-1.0263	10	0.10377	T	0.69	.	15.9377	0.79729	1.0:0.0:0.0:0.0	.	4207	Q96JB1	DYH8_HUMAN	R	4412;4207;4171	ENSP00000333363:K4412R;ENSP00000352312:K4207R;ENSP00000402294:K4171R	ENSP00000333363:K4412R	K	+	2	0	DNAH8	39084624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.159000	0.67721	0.528000	0.53228	AAA		0.423	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		86	145	0	0	0	0.870114	0	86	145				
BPTF	2186	broad.mit.edu	37	17	65899913	65899913	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr17:65899913G>A	ENST00000321892.4	+	10	2991	c.2930G>A	c.(2929-2931)cGg>cAg	p.R977Q	BPTF_ENST00000335221.5_Missense_Mutation_p.R977Q|BPTF_ENST00000424123.3_Missense_Mutation_p.R838Q|BPTF_ENST00000306378.6_Missense_Mutation_p.R851Q			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	977					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGGTTACACCGGATGACATCA	0.323																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2929-2931)cGg>cAg		bromodomain PHD finger transcription factor							42.0	45.0	44.0					17																	65899913		2203	4299	6502	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65899913G>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2930G>A	17.37:g.65899913G>A	ENSP00000315454:p.Arg977Gln					BPTF_ENST00000306378.6_Missense_Mutation_p.R851Q|BPTF_ENST00000335221.5_Missense_Mutation_p.R977Q|BPTF_ENST00000424123.3_Missense_Mutation_p.R838Q	p.R977Q			Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		10	2991	+	all_cancers(12;6e-11)		977					Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.2930G>A		.	.	.	.	.	.	.	.	.	.	G	16.75	3.210929	0.58343	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;D;T	0.81499	-1.42;-1.5;-1.43	5.15	5.15	0.70609	.	.	.	.	.	D	0.87896	0.6293	L	0.52823	1.66	0.80722	D	1	D;P;P	0.89917	1.0;0.579;0.948	D;B;B	0.79108	0.992;0.049;0.24	D	0.88855	0.3322	9	0.87932	D	0	-1.1229	18.5927	0.91220	0.0:0.0:1.0:0.0	.	977;851;977	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	Q	851;977;977;775	ENSP00000307208:R851Q;ENSP00000334351:R977Q;ENSP00000315454:R977Q	ENSP00000307208:R851Q	R	+	2	0	BPTF	63330375	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	9.813000	0.99286	2.562000	0.86427	0.655000	0.94253	CGG		0.323	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		5	44	0	0	0	0.184627	0	5	44				
ITGA11	22801	broad.mit.edu	37	15	68643096	68643096	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr15:68643096C>T	ENST00000315757.7	-	9	1005	c.919G>A	c.(919-921)Ggg>Agg	p.G307R	ITGA11_ENST00000562826.1_5'Flank|ITGA11_ENST00000423218.2_Missense_Mutation_p.G307R	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	307	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GGATTGATCCCCCTGCGGTTG	0.502																																						ENST00000423218.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.(919-921)Ggg>Agg		integrin, alpha 11	Tirofiban(DB00775)						83.0	87.0	86.0					15																	68643096		1884	4105	5989	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68643096C>T	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.919G>A	15.37:g.68643096C>T	ENSP00000327290:p.Gly307Arg					ITGA11_ENST00000315757.7_Missense_Mutation_p.G307R	p.G307R			Q9UKX5	ITA11_HUMAN			9	1014	-			307			VWFA.		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.919G>A	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319235	0.81469	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000537153	T;T	0.53857	0.6;0.6	5.19	5.19	0.71726	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.70613	0.3244	M	0.62723	1.935	0.58432	D	0.999993	D;D	0.89917	0.998;1.0	D;D	0.97110	0.985;1.0	T	0.71374	-0.4612	10	0.49607	T	0.09	.	17.6983	0.88288	0.0:1.0:0.0:0.0	.	307;307	A8K8T0;Q9UKX5	.;ITA11_HUMAN	R	307	ENSP00000327290:G307R;ENSP00000403392:G307R	ENSP00000327290:G307R	G	-	1	0	ITGA11	66430150	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.872000	0.56085	2.403000	0.81681	0.549000	0.68633	GGG		0.502	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		26	75	0	0	0	0.693898	0	26	75				
ATP4A	495	broad.mit.edu	37	19	36054521	36054521	+	Splice_Site	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr19:36054521G>A	ENST00000262623.3	-	1	39	c.11C>T	c.(10-12)gCc>gTc	p.A4V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	4					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CCCACTCACGGCCTTCCCCAT	0.652																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.e1+1		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						30.0	34.0	33.0					19																	36054521		2203	4300	6503	SO:0001630	splice_region_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054521G>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.12+1C>T	19.37:g.36054521G>A							p.A4_splice	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	39	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		4					O00738	Splice_Site	SNP	ENST00000262623.3	37	c.12_splice	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722556	0.48728	.	.	ENSG00000105675	ENST00000262623	D	0.93076	-3.16	4.12	1.97	0.26223	ATPase, P-type, gastric H+/K+-transporter, N-terminal (1);	678.748000	0.00496	U	0.000145	D	0.86477	0.5942	N	0.08118	0	0.27672	N	0.946726	B	0.02656	0.0	B	0.01281	0.0	T	0.75980	-0.3126	10	0.45353	T	0.12	.	8.0591	0.30623	0.2047:0.0:0.7953:0.0	.	4	P20648	ATP4A_HUMAN	V	4	ENSP00000262623:A4V	ENSP00000262623:A4V	A	-	2	0	ATP4A	40746361	0.180000	0.23148	0.993000	0.49108	0.957000	0.61999	1.236000	0.32683	0.413000	0.25759	0.549000	0.68633	GCC		0.652	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704	Missense_Mutation	9	41	0	0	0	0.307466	0	9	41				
ZNF831	128611	broad.mit.edu	37	20	57769660	57769660	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr20:57769660G>A	ENST00000371030.2	+	1	3586	c.3586G>A	c.(3586-3588)Gcg>Acg	p.A1196T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1196							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCTCTGCCCGCGGAGCAGAA	0.637																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(3586-3588)Gcg>Acg		zinc finger protein 831							35.0	40.0	39.0					20																	57769660		2067	4217	6284	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769660G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3586G>A	20.37:g.57769660G>A	ENSP00000360069:p.Ala1196Thr						p.A1196T	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	3586	+	all_lung(29;0.0085)		1196					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.3586G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	4.688	0.127854	0.08981	.	.	ENSG00000124203	ENST00000371030	T	0.06449	3.3	5.05	-4.52	0.03472	.	1.879040	0.02778	N	0.120554	T	0.04724	0.0128	L	0.33485	1.01	0.09310	N	1	B	0.22541	0.071	B	0.12837	0.008	T	0.33137	-0.9880	10	0.44086	T	0.13	1.2472	1.2848	0.02048	0.226:0.2007:0.3698:0.2035	.	1196	Q5JPB2	ZN831_HUMAN	T	1196	ENSP00000360069:A1196T	ENSP00000360069:A1196T	A	+	1	0	ZNF831	57203055	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.179000	0.09768	-1.354000	0.02188	-2.091000	0.00372	GCG		0.637	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		25	24	0	0	0	0.654019	0	25	24				
GBA3	57733	broad.mit.edu	37	4	22749784	22749785	+	RNA	DEL	TA	TA	-	rs73803318|rs33941035|rs553347641	byFrequency	TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr4:22749784_22749785delTA	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGGCatatgtatatatatata	0.342														1217	0.243011	0.18	0.2882	5008	,	,		12142	0.2262		0.2594	False		,,,				2504	0.2965					ENST00000511446.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)																																						57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749784_22749785delTA	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749794_22749795delTA						GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA		NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN			0	1086	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	DEL	ENST00000503442.1	37																																																																																						0.342	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			2	4						2	4	---	---	---	---
LOC153910	153910	broad.mit.edu	37	6	142860298	142860299	+	lincRNA	INS	-	-	T	rs143051118	byFrequency	TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr6:142860298_142860299insT	ENST00000447311.1	-	0	364					NR_027312.1																						ttaggccagtatttttttttta	0.47													|||unknown(HR)	546	0.109026	0.0416	0.1369	5008	,	,		19829	0.2173		0.1064	False		,,,				2504	0.0716					ENST00000447311.1																			0																																																			0							g.chr6:142860298_142860299insT																													6.37:g.142860308_142860308dupT								NR_027312.1						0	364	-									RNA	INS	ENST00000447311.1	37																																																																																						0.470	RP11-440G9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000042494.1			3	4						3	4	---	---	---	---
SLC26A11	284129	broad.mit.edu	37	17	78201649	78201651	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr17:78201649_78201651delTGC	ENST00000361193.3	+	7	906_908	c.626_628delTGC	c.(625-630)atgctg>atg	p.L213del	SLC26A11_ENST00000572725.1_In_Frame_Del_p.L213del|SLC26A11_ENST00000546047.2_In_Frame_Del_p.L213del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.L213del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTCTGCATGCTGCTGCTGCT	0.675																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(625-630)atg>a		solute carrier family 26 (anion exchanger), member 11																																				SO:0001651	inframe_deletion	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78201649_78201651delTGC		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.626_628delTGC	17.37:g.78201658_78201660delTGC	ENSP00000355384:p.Leu213del					SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del|SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del	p.ML209del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		7	906_908	+	all_neural(118;0.0538)		209						In_Frame_Del	DEL	ENST00000361193.3	37	c.626_628delTGC	CCDS11771.2																																																																																				0.675	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			7	160						7	160	---	---	---	---
