#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
OR8D2	283160	broad.mit.edu	37	11	124190082	124190082	+	Silent	SNP	T	T	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr11:124190082T>G	ENST00000357438.2	-	1	102	c.12A>C	c.(10-12)tcA>tcC	p.S4S		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AAGAATGGTTTGAAGTAGCCA	0.408																																						ENST00000357438.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(10-12)tcA>tcC		olfactory receptor, family 8, subfamily D, member 2							56.0	57.0	57.0					11																	124190082		2201	4299	6500	SO:0001819	synonymous_variant	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124190082T>G	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.12A>C	11.37:g.124190082T>G							p.S4S	NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	102	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	4					B9EH49|Q6IFR0	Silent	SNP	ENST00000357438.2	37	c.12A>C	CCDS31707.1																																																																																				0.408	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		9	62	0	0	0	1	0	9	62				
VPS28	51160	broad.mit.edu	37	8	145649475	145649475	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr8:145649475C>T	ENST00000526054.1	-	8	534	c.497G>A	c.(496-498)cGc>cAc	p.R166H	VPS28_ENST00000377348.2_Missense_Mutation_p.R166H|VPS28_ENST00000526734.1_5'Flank|VPS28_ENST00000529182.1_Missense_Mutation_p.R166H|VPS28_ENST00000292510.4_Missense_Mutation_p.R166H			Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	166	VPS28 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00642}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|negative regulation of protein ubiquitination (GO:0031397)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GTGGCTCATGCGGTGCATGGT	0.692																																						ENST00000377348.2																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(496-498)cGc>cAc		vacuolar protein sorting 28 homolog (S. cerevisiae)							53.0	59.0	57.0					8																	145649475		2203	4299	6502	SO:0001583	missense	51160				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding	g.chr8:145649475C>T	AF316887	CCDS6425.1, CCDS34967.1	8q24.3	2014-08-12	2006-04-04		ENSG00000160948	ENSG00000160948			18178	protein-coding gene	gene with protein product		611952	"""vacuolar protein sorting 28 (yeast)"""				Standard	NM_183057		Approved		uc003zct.1	Q9UK41	OTTHUMG00000165209	ENST00000526054.1:c.497G>A	8.37:g.145649475C>T	ENSP00000434064:p.Arg166His					VPS28_ENST00000292510.4_Missense_Mutation_p.R166H|VPS28_ENST00000529182.1_Missense_Mutation_p.R166H|VPS28_ENST00000526054.1_Missense_Mutation_p.R166H	p.R166H	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		9	586	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		166			VPS28 C-terminal.		Q86VK0	Missense_Mutation	SNP	ENST00000526054.1	37	c.497G>A	CCDS6425.1	.	.	.	.	.	.	.	.	.	.	c	19.14	3.770276	0.69992	.	.	ENSG00000160948	ENST00000529182;ENST00000526054;ENST00000292510;ENST00000377348;ENST00000533806	.	.	.	5.32	3.5	0.40072	Vacuolar protein sorting-associated, VPS28, C-terminal (1);	0.049523	0.64402	D	0.000001	T	0.78039	0.4221	M	0.93150	3.385	0.58432	D	0.999997	D;P	0.58268	0.982;0.89	P;P	0.54759	0.76;0.614	T	0.83080	-0.0138	9	0.87932	D	0	.	10.4447	0.44486	0.0:0.8359:0.0:0.1641	.	166;166	Q9UK41-2;Q9UK41	.;VPS28_HUMAN	H	166;166;166;166;149	.	ENSP00000292510:R166H	R	-	2	0	VPS28	145620283	1.000000	0.71417	0.973000	0.42090	0.187000	0.23431	3.575000	0.53870	1.490000	0.48466	-0.137000	0.14449	CGC		0.692	VPS28-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382694.1			4	196	0	0	0	1	0	4	196				
CRYBG3	131544	broad.mit.edu	37	3	97596432	97596432	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:97596432G>C	ENST00000182096.4	+	1	614	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2132							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GTCAGTGTCAGAACGTTTAAA	0.458																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(550-552)Gaa>Caa		beta-gamma crystallin domain containing 3							52.0	54.0	53.0					3																	97596432		2030	4212	6242	SO:0001583	missense	131544							g.chr3:97596432G>C			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.550G>C	3.37:g.97596432G>C	ENSP00000182096:p.Glu184Gln						p.E184Q	NM_153605.3	NP_705833.3					1	614	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.550G>C		.	.	.	.	.	.	.	.	.	.	G	18.84	3.709073	0.68615	.	.	ENSG00000080200	ENST00000182096	T	0.81163	-1.46	5.8	5.8	0.92144	.	1.179390	0.06178	N	0.678913	D	0.87704	0.6244	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79720	-0.1685	10	0.66056	D	0.02	.	18.2372	0.89952	0.0:0.0:1.0:0.0	.	184	Q68DQ2	CRBG3_HUMAN	Q	184	ENSP00000182096:E184Q	ENSP00000182096:E184Q	E	+	1	0	CRYBG3	99079122	1.000000	0.71417	0.998000	0.56505	0.609000	0.37215	6.069000	0.71209	2.752000	0.94435	0.650000	0.86243	GAA		0.458	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		3	48	0	0	0	1	0	3	48				
PRPF4B	8899	broad.mit.edu	37	6	4037671	4037671	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr6:4037671T>G	ENST00000337659.6	+	3	1379	c.1279T>G	c.(1279-1281)Tca>Gca	p.S427A	PRPF4B_ENST00000538861.1_Missense_Mutation_p.S413A	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	427	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				ACGTGAAAGATCAAAAGATGC	0.413																																						ENST00000337659.6																			0				breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22						c.(1279-1281)Tca>Gca		pre-mRNA processing factor 4B							86.0	78.0	80.0					6																	4037671		2203	4300	6503	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4037671T>G	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1279T>G	6.37:g.4037671T>G	ENSP00000337194:p.Ser427Ala					PRPF4B_ENST00000538861.1_Missense_Mutation_p.S413A	p.S427A	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN			3	1379	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	427			Arg/Lys-rich (basic).		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.1279T>G	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.792311	0.70452	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.69040	-0.36;-0.37	4.92	4.92	0.64577	.	0.105838	0.42294	D	0.000727	T	0.32466	0.0830	N	0.24115	0.695	0.44956	D	0.997975	B	0.06786	0.001	B	0.04013	0.001	T	0.22103	-1.0226	10	0.20046	T	0.44	.	10.9397	0.47266	0.0:0.0:0.1568:0.8432	.	427	Q13523	PRP4B_HUMAN	A	427;413	ENSP00000337194:S427A;ENSP00000439331:S413A	ENSP00000337194:S427A	S	+	1	0	PRPF4B	3982670	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.930000	0.48924	1.950000	0.56595	0.528000	0.53228	TCA		0.413	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			22	26	0	0	0	1	0	22	26				
MECOM	2122	broad.mit.edu	37	3	168812874	168812874	+	Silent	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:168812874C>T	ENST00000464456.1	-	11	3618	c.2418G>A	c.(2416-2418)ggG>ggA	p.G806G	MECOM_ENST00000433243.2_Silent_p.G816G|MECOM_ENST00000264674.3_Silent_p.G880G|MECOM_ENST00000472280.1_Silent_p.G816G|MECOM_ENST00000468789.1_Silent_p.G815G|MECOM_ENST00000460814.1_Silent_p.G806G|MECOM_ENST00000392736.3_Silent_p.G815G|MECOM_ENST00000494292.1_Silent_p.G994G	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CGGACATGTTCCCATTCTCAT	0.318																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2416-2418)ggG>ggA		MDS1 and EVI1 complex locus							183.0	161.0	169.0					3																	168812874		2203	4300	6503	SO:0001819	synonymous_variant	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168812874C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2418G>A	3.37:g.168812874C>T						MECOM_ENST00000264674.3_Silent_p.G880G|MECOM_ENST00000392736.3_Silent_p.G815G|MECOM_ENST00000472280.1_Silent_p.G816G|MECOM_ENST00000460814.1_Silent_p.G806G|MECOM_ENST00000494292.1_Silent_p.G994G|MECOM_ENST00000433243.2_Silent_p.G816G|MECOM_ENST00000468789.1_Silent_p.G815G	p.G806G	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			11	3618	-			0					Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	c.2418G>A	CCDS54669.1																																																																																				0.318	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		5	10	0	0	0	1	0	5	10				
ARMC1	55156	broad.mit.edu	37	8	66516636	66516636	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr8:66516636T>C	ENST00000276569.3	-	7	1086	c.842A>G	c.(841-843)tAt>tGt	p.Y281C	ARMC1_ENST00000458464.2_Missense_Mutation_p.Y179C	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	281					metal ion transport (GO:0030001)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			AAGTCACCAATAAAATGATCT	0.468																																						ENST00000276569.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14						c.(841-843)tAt>tGt		armadillo repeat containing 1							81.0	79.0	80.0					8																	66516636		2203	4300	6503	SO:0001583	missense	55156				metal ion transport		metal ion binding	g.chr8:66516636T>C	BC011607	CCDS6181.1, CCDS69490.1	8q12.3	2013-02-14			ENSG00000104442	ENSG00000104442		"""Armadillo repeat containing"""	17684	protein-coding gene	gene with protein product							Standard	XM_005251264		Approved	FLJ10511, Arcp	uc003xvl.3	Q9NVT9	OTTHUMG00000164374	ENST00000276569.3:c.842A>G	8.37:g.66516636T>C	ENSP00000276569:p.Tyr281Cys					ARMC1_ENST00000458464.2_Missense_Mutation_p.Y179C	p.Y281C	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)		7	1086	-			281					B4E2W7|Q9H018|Q9H820	Missense_Mutation	SNP	ENST00000276569.3	37	c.842A>G	CCDS6181.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.716253	0.68844	.	.	ENSG00000104442	ENST00000276569;ENST00000458464	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.79890	0.4524	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.83235	-0.0061	9	0.87932	D	0	-25.8133	14.9216	0.70843	0.0:0.0:0.0:1.0	.	179;281	B4E2W7;Q9NVT9	.;ARMC1_HUMAN	C	281;179	.	ENSP00000276569:Y281C	Y	-	2	0	ARMC1	66679190	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.648000	0.83479	1.929000	0.55896	0.454000	0.30748	TAT		0.468	ARMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378480.1	NM_018120		4	37	0	0	0	1	0	4	37				
PPEF2	5470	broad.mit.edu	37	4	76794286	76794286	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr4:76794286G>C	ENST00000286719.7	-	12	1856	c.1500C>G	c.(1498-1500)aaC>aaG	p.N500K		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	500	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCACCTTGCGGTTGTGACAGA	0.488																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1498-1500)aaC>aaG		protein phosphatase, EF-hand calcium binding domain 2							145.0	132.0	136.0					4																	76794286		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76794286G>C	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1500C>G	4.37:g.76794286G>C	ENSP00000286719:p.Asn500Lys						p.N500K	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		12	1856	-			500			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.1500C>G	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	G	7.187	0.590758	0.13812	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.05925	3.37	4.85	-0.22	0.13130	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.193492	0.53938	D	0.000059	T	0.03915	0.0110	L	0.31371	0.925	0.27077	N	0.96319	B;B	0.28713	0.03;0.22	B;B	0.27262	0.078;0.036	T	0.32481	-0.9905	10	0.42905	T	0.14	-2.8501	3.6765	0.08294	0.4703:0.0:0.3546:0.1751	.	500;500	O14830-2;O14830	.;PPE2_HUMAN	K	500	ENSP00000286719:N500K	ENSP00000286719:N500K	N	-	3	2	PPEF2	77013310	1.000000	0.71417	0.964000	0.40570	0.004000	0.04260	0.683000	0.25349	0.015000	0.14971	-0.251000	0.11542	AAC		0.488	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		15	32	0	0	0	1	0	15	32				
YWHAB	7529	broad.mit.edu	37	20	43534679	43534679	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr20:43534679A>G	ENST00000372839.3	+	6	900	c.626A>G	c.(625-627)aAt>aGt	p.N209S	YWHAB_ENST00000353703.4_Missense_Mutation_p.N209S|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	209					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				GATACGCTGAATGAAGAGTCT	0.388																																						ENST00000372839.3																			0				breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12						c.(625-627)aAt>aGt		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide							145.0	142.0	143.0					20																	43534679		2203	4300	6503	SO:0001583	missense	7529				activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding	g.chr20:43534679A>G	X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"""14-3-3 beta"", ""14-3-3 alpha"""	601289	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"""	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.626A>G	20.37:g.43534679A>G	ENSP00000361930:p.Asn209Ser					YWHAB_ENST00000353703.4_Missense_Mutation_p.N209S|YWHAB_ENST00000479421.1_3'UTR	p.N209S	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN			6	900	+		Myeloproliferative disorder(115;0.0122)	209					A8K9K2|E1P616	Missense_Mutation	SNP	ENST00000372839.3	37	c.626A>G	CCDS13339.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.278779	0.23307	.	.	ENSG00000166913	ENST00000353703;ENST00000372839	T;T	0.39406	1.08;1.08	5.63	4.53	0.55603	14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	N	0.12569	0.235	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.09729	-1.0661	10	0.02654	T	1	-21.402	11.8224	0.52247	0.9311:0.0:0.0689:0.0	.	209	P31946	1433B_HUMAN	S	209	ENSP00000300161:N209S;ENSP00000361930:N209S	ENSP00000300161:N209S	N	+	2	0	YWHAB	42968093	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.216000	0.77974	1.062000	0.40625	0.533000	0.62120	AAT		0.388	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079386.3	NM_003404		35	71	0	0	0	1	0	35	71				
IGHV3-49	28423	broad.mit.edu	37	14	107013199	107013199	+	RNA	SNP	C	C	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr14:107013199C>A	ENST00000390625.2	-	0	175									immunoglobulin heavy variable 3-49																		ACCGCCCTGGCTGTACCAAGC	0.552																																						ENST00000390625.2																			0																				76.0	72.0	74.0					14																	107013199		1899	4117	6016			0							g.chr14:107013199C>A	M99676		14q32.33	2012-02-08			ENSG00000211965	ENSG00000211965		"""Immunoglobulins / IGH locus"""	5607	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151967		14.37:g.107013199C>A														0	175	-									RNA	SNP	ENST00000390625.2	37																																																																																						0.552	IGHV3-49-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324613.1	NG_001019		3	41	1	0	0.115264	1	0.117481	3	41				
TICRR	90381	broad.mit.edu	37	15	90167942	90167942	+	Silent	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr15:90167942C>T	ENST00000268138.7	+	20	4506	c.4401C>T	c.(4399-4401)ctC>ctT	p.L1467L	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.L1466L			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1467					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TCACTCTCCTCAGTGAAGCCG	0.522																																						ENST00000268138.7																			0											c.(4399-4401)ctC>ctT		TOPBP1-interacting checkpoint and replication regulator							103.0	88.0	93.0					15																	90167942		2200	4299	6499	SO:0001819	synonymous_variant	90381							g.chr15:90167942C>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4401C>T	15.37:g.90167942C>T						KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Silent_p.L1466L	p.L1467L							20	4506	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	37	c.4401C>T	CCDS10352.2																																																																																				0.522	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		19	24	0	0	0	1	0	19	24				
GNAI3	2773	broad.mit.edu	37	1	110128908	110128908	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:110128908A>G	ENST00000369851.4	+	6	771	c.661A>G	c.(661-663)Att>Gtt	p.I221V		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	221					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		AGTGACAGCAATTATCTTCTG	0.458																																						ENST00000369851.4																			0				NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(661-663)Att>Gtt		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3							288.0	234.0	252.0					1																	110128908		2203	4300	6503	SO:0001583	missense	2773				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr1:110128908A>G	M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.661A>G	1.37:g.110128908A>G	ENSP00000358867:p.Ile221Val						p.I221V	NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)	6	771	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	221					P17539|Q5TZX1	Missense_Mutation	SNP	ENST00000369851.4	37	c.661A>G	CCDS802.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.691558	0.68271	.	.	ENSG00000065135	ENST00000369851	D	0.90504	-2.68	5.02	5.02	0.67125	.	0.094131	0.64402	D	0.000001	D	0.87079	0.6088	L	0.53729	1.69	0.80722	D	1	B	0.25048	0.117	B	0.36666	0.23	D	0.87601	0.2497	10	0.87932	D	0	.	14.7149	0.69259	1.0:0.0:0.0:0.0	.	221	P08754	GNAI3_HUMAN	V	221	ENSP00000358867:I221V	ENSP00000358867:I221V	I	+	1	0	GNAI3	109930431	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.014000	0.59158	0.477000	0.44152	ATT		0.458	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032222.1	NM_006496		12	117	0	0	0	1	0	12	117				
LRRC37BP1	147172	broad.mit.edu	37	17	28960234	28960234	+	RNA	SNP	T	T	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr17:28960234T>C	ENST00000417404.1	+	0	1095									leucine rich repeat containing 37B pseudogene 1																		CAGAAACACATGTGCAAGGGA	0.493																																						ENST00000417404.1																			0																																																			0							g.chr17:28960234T>C	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28960234T>C						LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA								0	1095	+									RNA	SNP	ENST00000417404.1	37																																																																																						0.493	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		20	40	0	0	0	1	0	20	40				
SGOL2	151246	broad.mit.edu	37	2	201437735	201437735	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr2:201437735A>G	ENST00000357799.4	+	7	2764	c.2666A>G	c.(2665-2667)tAt>tGt	p.Y889C		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	889					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTGAAAAAGTATGTTACTGAT	0.303																																						ENST00000357799.4																			0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(2665-2667)tAt>tGt		shugoshin-like 2 (S. pombe)							79.0	82.0	81.0					2																	201437735		1799	4035	5834	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437735A>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2666A>G	2.37:g.201437735A>G	ENSP00000350447:p.Tyr889Cys						p.Y889C	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN			7	2764	+			889					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.2666A>G	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	A	0.345	-0.947935	0.02304	.	.	ENSG00000163535	ENST00000357799	T	0.12361	2.69	4.68	-0.48	0.12085	.	1.937450	0.02661	N	0.107516	T	0.05090	0.0136	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.003;0.003;0.001	T	0.28299	-1.0048	10	0.25751	T	0.34	2.1014	3.2733	0.06889	0.5416:0.0:0.2877:0.1706	.	889;889;889	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	C	889	ENSP00000350447:Y889C	ENSP00000350447:Y889C	Y	+	2	0	SGOL2	201145980	0.000000	0.05858	0.004000	0.12327	0.060000	0.15804	-0.424000	0.07025	-0.144000	0.11314	0.477000	0.44152	TAT		0.303	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		45	41	0	0	0	1	0	45	41				
MYH7	4625	broad.mit.edu	37	14	23894938	23894938	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr14:23894938A>G	ENST00000355349.3	-	20	2414	c.2252T>C	c.(2251-2253)aTt>aCt	p.I751T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	751	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGTGATCAATGTCCAGGGA	0.493																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(2251-2253)aTt>aCt		myosin, heavy chain 7, cardiac muscle, beta							129.0	113.0	118.0					14																	23894938		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23894938A>G	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2252T>C	14.37:g.23894938A>G	ENSP00000347507:p.Ile751Thr						p.I751T	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	20	2414	-	all_cancers(95;2.54e-05)		751			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.2252T>C	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.551582	0.86127	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.95482	-3.72	4.88	4.88	0.63580	Myosin head, motor domain (2);	.	.	.	.	D	0.97328	0.9126	M	0.87097	2.86	0.58432	D	0.999999	P	0.39809	0.689	P	0.53185	0.72	D	0.98290	1.0513	9	0.87932	D	0	.	14.6525	0.68808	1.0:0.0:0.0:0.0	.	751	P12883	MYH7_HUMAN	T	751	ENSP00000347507:I751T	ENSP00000347507:I751T	I	-	2	0	MYH7	22964778	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.765000	0.91724	2.048000	0.60808	0.533000	0.62120	ATT		0.493	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		20	32	0	0	0	1	0	20	32				
ZNF180	7733	broad.mit.edu	37	19	44982041	44982041	+	Silent	SNP	T	T	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:44982041T>C	ENST00000221327.4	-	5	938	c.657A>G	c.(655-657)aaA>aaG	p.K219K	ZNF180_ENST00000586637.1_3'UTR|ZNF180_ENST00000592529.1_Silent_p.K192K|ZNF180_ENST00000391956.4_Silent_p.K194K|ZNF180_ENST00000585514.1_5'Flank|AC069278.4_ENST00000591684.1_lincRNA	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GTGATACATGTTTATGAAAAT	0.353																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(655-657)aaA>aaG		zinc finger protein 180							86.0	86.0	86.0					19																	44982041		2203	4300	6503	SO:0001819	synonymous_variant	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44982041T>C	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.657A>G	19.37:g.44982041T>C						ZNF180_ENST00000391956.4_Silent_p.K194K|ZNF180_ENST00000586637.1_3'UTR|ZNF180_ENST00000592529.1_Silent_p.K192K	p.K219K	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN			5	938	-		Prostate(69;0.0435)	219					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Silent	SNP	ENST00000221327.4	37	c.657A>G	CCDS12639.1																																																																																				0.353	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		28	35	0	0	0	1	0	28	35				
ZBED9	114821	broad.mit.edu	37	6	28554109	28554109	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr6:28554109T>C	ENST00000452236.2	-	1	1003	c.386A>G	c.(385-387)gAt>gGt	p.D129G	RP5-1186N24.3_ENST00000499525.1_RNA|SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CCTCTCCAAATCTTCCAGCAA	0.522																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(385-387)gAt>gGt		SCAN domain containing 3							168.0	177.0	174.0					6																	28554109		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28554109T>C																												ENST00000452236.2:c.386A>G	6.37:g.28554109T>C	ENSP00000395259:p.Asp129Gly					SCAND3_ENST00000530247.1_Intron	p.D129G	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			1	1003	-			129			SCAN box.			Missense_Mutation	SNP	ENST00000452236.2	37	c.386A>G	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.601877	0.66445	.	.	ENSG00000232040	ENST00000452236	T	0.06687	3.27	3.37	3.37	0.38596	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.14787	0.0357	M	0.73430	2.235	0.31522	N	0.662224	D	0.63046	0.992	D	0.67231	0.95	T	0.01283	-1.1396	9	0.72032	D	0.01	.	10.0856	0.42417	0.0:0.0:0.0:1.0	.	129	Q6R2W3	SCND3_HUMAN	G	129	ENSP00000395259:D129G	ENSP00000395259:D129G	D	-	2	0	SCAND3	28662088	0.994000	0.37717	0.992000	0.48379	0.957000	0.61999	1.732000	0.38146	1.541000	0.49316	0.533000	0.62120	GAT		0.522	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			6	180	0	0	0	1	0	6	180				
PHF8	23133	broad.mit.edu	37	X	53965658	53965658	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chrX:53965658A>G	ENST00000357988.5	-	22	3474	c.3116T>C	c.(3115-3117)cTg>cCg	p.L1039P	PHF8_ENST00000338946.6_Missense_Mutation_p.L902P|PHF8_ENST00000338154.6_Missense_Mutation_p.L1003P	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	1039					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TGCTGTGGCCAGGCCCTTTTT	0.547																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(3007-3009)cTg>cCg		PHD finger protein 8							127.0	98.0	108.0					X																	53965658		2203	4300	6503	SO:0001583	missense	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:53965658A>G	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.3116T>C	X.37:g.53965658A>G	ENSP00000350676:p.Leu1039Pro					PHF8_ENST00000338946.6_Missense_Mutation_p.L902P|PHF8_ENST00000357988.5_Missense_Mutation_p.L1039P	p.L1003P	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			22	3512	-			1039					B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	c.3008T>C	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	19.99|19.99	3.927919|3.927919	0.73327|0.73327	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277|ENST00000396282	T;T;T|.	0.24908|.	2.11;1.85;1.83|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.178990|.	0.35903|.	N|.	0.002903|.	T|T	0.37073|0.37073	0.0990|0.0990	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.72075|.	0.946;0.976;0.946|.	T|T	0.27088|0.27088	-1.0084|-1.0084	10|5	0.87932|.	D|.	0|.	-5.1651|-5.1651	13.022|13.022	0.58794|0.58794	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	902;938;1039|.	B7Z911;Q9UPP1-3;Q9UPP1|.	.;.;PHF8_HUMAN|.	P|R	1039;1003;902;932|907	ENSP00000350676:L1039P;ENSP00000338868:L1003P;ENSP00000340051:L902P|.	ENSP00000338868:L1003P|.	L|W	-|-	2|1	0|0	PHF8|PHF8	53982383|53982383	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.885000|7.885000	0.87282|0.87282	1.784000|1.784000	0.52394|0.52394	0.414000|0.414000	0.27820|0.27820	CTG|TGG		0.547	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		7	30	0	0	0	1	0	7	30				
AMOT	154796	broad.mit.edu	37	X	112048276	112048276	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chrX:112048276C>G	ENST00000524145.1	-	6	1749	c.1675G>C	c.(1675-1677)Gcc>Ccc	p.A559P	AMOT_ENST00000371959.3_Missense_Mutation_p.A559P|AMOT_ENST00000371962.1_Missense_Mutation_p.A327P|AMOT_ENST00000304758.1_Missense_Mutation_p.A150P|AMOT_ENST00000371958.1_Missense_Mutation_p.A327P			Q4VCS5	AMOT_HUMAN	angiomotin	559					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CGGGCAGTGGCCAGCTCCGCT	0.522																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1675-1677)Gcc>Ccc		angiomotin							268.0	229.0	242.0					X																	112048276		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112048276C>G	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1675G>C	X.37:g.112048276C>G	ENSP00000429013:p.Ala559Pro					AMOT_ENST00000304758.1_Missense_Mutation_p.A150P|AMOT_ENST00000371962.1_Missense_Mutation_p.A327P|AMOT_ENST00000524145.1_Missense_Mutation_p.A559P|AMOT_ENST00000371958.1_Missense_Mutation_p.A327P	p.A559P	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			5	1674	-			559					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.1675G>C	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.933333	0.73442	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.96	2.85	0.33270	.	0.588557	0.19928	N	0.102935	T	0.24890	0.0604	M	0.70595	2.14	0.31156	N	0.704963	P	0.43169	0.8	B	0.38562	0.276	T	0.28138	-1.0053	10	0.51188	T	0.08	-1.8828	6.2963	0.21087	0.1378:0.6322:0.0:0.23	.	559	Q4VCS5	AMOT_HUMAN	P	150;559;327;559;327	ENSP00000305557:A150P;ENSP00000361027:A559P;ENSP00000361030:A327P;ENSP00000429013:A559P;ENSP00000361026:A327P	ENSP00000305557:A150P	A	-	1	0	AMOT	111934932	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.818000	0.39012	0.656000	0.30886	0.597000	0.82753	GCC		0.522	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		8	147	0	0	0	1	0	8	147				
HSD17B3	3293	broad.mit.edu	37	9	99007648	99007648	+	Silent	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr9:99007648G>A	ENST00000375263.3	-	8	632	c.585C>T	c.(583-585)taC>taT	p.Y195Y	HSD17B3_ENST00000464104.1_5'UTR|HSD17B3_ENST00000375262.2_Silent_p.Y195Y|RP11-240L7.4_ENST00000448857.1_RNA	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	195					androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)				AGTACATGGAGTAGAGAGGCC	0.463																																						ENST00000375263.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(583-585)taC>taT		hydroxysteroid (17-beta) dehydrogenase 3	NADH(DB00157)						152.0	140.0	144.0					9																	99007648		2203	4300	6503	SO:0001819	synonymous_variant	3293				androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr9:99007648G>A		CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5212	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 12C, member 2"""	605573				8075637, 19027726	Standard	NM_000197		Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.585C>T	9.37:g.99007648G>A						HSD17B3_ENST00000464104.1_5'UTR|HSD17B3_ENST00000375262.2_Silent_p.Y195Y	p.Y195Y	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN			8	632	-		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)	195					Q5U0Q6	Silent	SNP	ENST00000375263.3	37	c.585C>T	CCDS6716.1																																																																																				0.463	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053259.1	NM_000197		27	48	0	0	0	1	0	27	48				
TP53	7157	broad.mit.edu	37	17	7578535	7578535	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr17:7578535T>C	ENST00000269305.4	-	5	584	c.395A>G	c.(394-396)aAg>aGg	p.K132R	TP53_ENST00000445888.2_Missense_Mutation_p.K132R|TP53_ENST00000420246.2_Missense_Mutation_p.K132R|TP53_ENST00000359597.4_Missense_Mutation_p.K132R|TP53_ENST00000455263.2_Missense_Mutation_p.K132R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.K132R	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	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (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.K132R(42)|p.K132M(10)|p.0?(8)|p.K132T(7)|p.Y126_K132delYSPALNK(6)|p.N131del(3)|p.K39R(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132W(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.K39T(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)	GCAAAACATCTTGTTGAGGGC	0.562		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"""		90	Substitution - Missense(64)|Deletion - In frame(13)|Whole gene deletion(8)|Deletion - Frameshift(5)	p.K132R(42)|p.K132M(10)|p.0?(8)|p.K132T(7)|p.Y126_K132delYSPALNK(6)|p.N131del(3)|p.K39R(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132W(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.K39T(1)	lung(15)|ovary(12)|large_intestine(11)|central_nervous_system(8)|oesophagus(7)|breast(5)|bone(5)|upper_aerodigestive_tract(4)|biliary_tract(4)|urinary_tract(4)|haematopoietic_and_lymphoid_tissue(3)|adrenal_gland(2)|kidney(2)|prostate(2)|liver(2)|stomach(1)|endometrium(1)|skin(1)|pancreas(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						c.(394-396)aAg>aGg	Other conserved DNA damage response genes	tumor protein p53							46.0	47.0	47.0					17																	7578535		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.chr17:7578535T>C	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.395A>G	17.37:g.7578535T>C	ENSP00000269305:p.Lys132Arg	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_ENST00000359597.4_Missense_Mutation_p.K132R|TP53_ENST00000413465.2_Missense_Mutation_p.K132R|TP53_ENST00000269305.4_Missense_Mutation_p.K132R|TP53_ENST00000445888.2_Missense_Mutation_p.K132R|TP53_ENST00000455263.2_Missense_Mutation_p.K132R	p.K132R	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)	5	527	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	132		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (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	Missense_Mutation	SNP	ENST00000269305.4	37	c.395A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.072716	0.76415	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99849	-7.15;-7.15;-7.15;-7.15;-7.15;-7.15;-7.15;-7.15	5.48	4.41	0.53225	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	0.99753	0.9901	M	0.84326	2.69	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.998;1.0	D;D;D;D;D;D;D	0.97110	0.992;0.991;0.985;0.989;0.995;0.988;1.0	D	0.97766	1.0223	10	0.87932	D	0	-14.0777	9.8103	0.40820	0.0:0.082:0.0:0.918	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132R;ENSP00000352610:K132R;ENSP00000269305:K132R;ENSP00000398846:K132R;ENSP00000391127:K132R;ENSP00000391478:K132R;ENSP00000423862:K39R;ENSP00000424104:K132R	ENSP00000269305:K132R	K	-	2	0	TP53	7519260	1.000000	0.71417	0.999000	0.59377	0.772000	0.43724	7.993000	0.88291	1.020000	0.39573	-0.256000	0.11100	AAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	5	0	0	0	1	0	31	5				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	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			22	24	0	0	0	1	0	22	24				
DCHS2	54798	broad.mit.edu	37	4	155287481	155287481	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr4:155287481G>A	ENST00000357232.4	-	5	574	c.575C>T	c.(574-576)cCa>cTa	p.P192L	DCHS2_ENST00000339452.1_Missense_Mutation_p.P786L	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	192	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTCGGTGCCTGGCTGGGTCTC	0.493																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(574-576)cCa>cTa		dachsous cadherin-related 2							192.0	155.0	167.0					4																	155287481		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155287481G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.575C>T	4.37:g.155287481G>A	ENSP00000349768:p.Pro192Leu					DCHS2_ENST00000339452.1_Missense_Mutation_p.P786L	p.P192L	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	5	574	-	all_hematologic(180;0.208)	Renal(120;0.0854)	192			Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.575C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138879	0.56936	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.59906	0.23;0.23	5.82	4.98	0.66077	Cadherin (3);Cadherin-like (1);	0.000000	0.56097	D	0.000025	T	0.57140	0.2033	L	0.46885	1.475	0.80722	D	1	P;B	0.34639	0.461;0.246	B;B	0.40636	0.335;0.088	T	0.58945	-0.7546	10	0.51188	T	0.08	.	14.6097	0.68507	0.0705:0.0:0.9295:0.0	.	786;192	E9PC11;Q6V1P9	.;PCD23_HUMAN	L	192;786;786	ENSP00000349768:P192L;ENSP00000345062:P786L	ENSP00000345062:P786L	P	-	2	0	DCHS2	155506931	1.000000	0.71417	0.459000	0.27081	0.649000	0.38597	6.993000	0.76245	1.472000	0.48140	0.650000	0.86243	CCA		0.493	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		8	29	0	0	0	1	0	8	29				
PHLPP1	23239	broad.mit.edu	37	18	60645537	60645537	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr18:60645537G>A	ENST00000262719.5	+	17	4261	c.4027G>A	c.(4027-4029)Ggc>Agc	p.G1343S	PHLPP1_ENST00000400316.4_Missense_Mutation_p.G831S			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1343	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						GCGCATCCTGGGCTACACCTT	0.572																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(2491-2493)Ggc>Agc		PH domain and leucine rich repeat protein phosphatase 1							45.0	50.0	48.0					18																	60645537		2157	4250	6407	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60645537G>A	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4027G>A	18.37:g.60645537G>A	ENSP00000262719:p.Gly1343Ser					PHLPP1_ENST00000262719.5_Missense_Mutation_p.G1343S	p.G831S	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			17	4272	+			1343					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.2491G>A	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	31	5.099902	0.94197	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.69806	-0.43;-0.43	4.54	4.54	0.55810	Protein phosphatase 2C-like (4);	.	.	.	.	D	0.84174	0.5414	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87653	0.2529	9	0.87932	D	0	-20.0408	17.512	0.87763	0.0:0.0:1.0:0.0	.	1343	O60346	PHLP1_HUMAN	S	831;1343	ENSP00000383170:G831S;ENSP00000262719:G1343S	ENSP00000262719:G1343S	G	+	1	0	PHLPP1	58796517	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.484000	0.97940	2.349000	0.79799	0.655000	0.94253	GGC		0.572	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		7	11	0	0	0	1	0	7	11				
SBF1	6305	broad.mit.edu	37	22	50900706	50900706	+	Missense_Mutation	SNP	T	T	C	rs556408484		TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr22:50900706T>C	ENST00000390679.3	-	19	2508	c.2324A>G	c.(2323-2325)aAg>aGg	p.K775R	SBF1_ENST00000348911.6_Missense_Mutation_p.K776R|SBF1_ENST00000380817.3_Missense_Mutation_p.K775R			O95248	MTMR5_HUMAN	SET binding factor 1	775					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TAGGCGGCTCTTGCTGCTGTC	0.657																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2323-2325)aAg>aGg		SET binding factor 1							50.0	55.0	53.0					22																	50900706		2130	4229	6359	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50900706T>C	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.2324A>G	22.37:g.50900706T>C	ENSP00000375097:p.Lys775Arg					SBF1_ENST00000390679.3_Missense_Mutation_p.K775R|SBF1_ENST00000348911.6_Missense_Mutation_p.K776R	p.K775R	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	19	2507	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	775					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.2324A>G		.	.	.	.	.	.	.	.	.	.	T	23.7	4.446667	0.84101	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.86865	-2.18;-2.18;-2.18	4.52	4.52	0.55395	.	1.930530	0.02724	N	0.114307	D	0.92961	0.7760	L	0.60455	1.87	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.80764	0.971;0.994;0.991	T	0.82127	-0.0611	10	0.33141	T	0.24	.	13.6779	0.62465	0.0:0.0:0.0:1.0	.	775;776;775	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	R	775;776;786;785;775	ENSP00000370196:K775R;ENSP00000252027:K776R;ENSP00000375097:K775R	ENSP00000336522:K785R	K	-	2	0	SBF1	49247572	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.764000	0.62264	1.917000	0.55516	0.533000	0.62120	AAG		0.657	SBF1-201	KNOWN	basic	protein_coding	protein_coding				26	27	0	0	0	1	0	26	27				
HGD	3081	broad.mit.edu	37	3	120352005	120352005	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:120352005C>T	ENST00000283871.5	-	13	1636	c.1177G>A	c.(1177-1179)Gat>Aat	p.D393N		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	393					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		ATGGTGCCATCGGCAATCCTC	0.547																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.(1177-1179)Gat>Aat		homogentisate 1,2-dioxygenase							83.0	68.0	73.0					3																	120352005		2203	4297	6500	SO:0001583	missense	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120352005C>T		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.1177G>A	3.37:g.120352005C>T	ENSP00000283871:p.Asp393Asn						p.D393N	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	13	1636	-			393					A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	c.1177G>A	CCDS3000.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.583947	0.65992	.	.	ENSG00000113924	ENST00000283871	D	0.98996	-5.31	5.2	5.2	0.72013	Cupin, RmlC-type (1);	0.117189	0.56097	D	0.000031	D	0.97424	0.9157	L	0.41356	1.27	0.51767	D	0.999932	B	0.16396	0.017	B	0.13407	0.009	D	0.94978	0.8123	10	0.72032	D	0.01	-4.0225	17.9055	0.88917	0.0:1.0:0.0:0.0	.	393	Q93099	HGD_HUMAN	N	393	ENSP00000283871:D393N	ENSP00000283871:D393N	D	-	1	0	HGD	121834695	1.000000	0.71417	0.957000	0.39632	0.678000	0.39670	7.289000	0.78701	2.703000	0.92315	0.460000	0.39030	GAT		0.547	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			8	27	0	0	0	1	0	8	27				
NCAPD2	9918	broad.mit.edu	37	12	6634761	6634761	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr12:6634761G>A	ENST00000315579.5	+	18	3026	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	NCAPD2_ENST00000545962.1_Missense_Mutation_p.V698M|NCAPD2_ENST00000542492.1_3'UTR	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	743					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CTGTGAGTTTGTGCAGAAGGA	0.493																																						ENST00000315579.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(2227-2229)Gtg>Atg		non-SMC condensin I complex, subunit D2							69.0	69.0	69.0					12																	6634761		2203	4300	6503	SO:0001583	missense	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6634761G>A	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2227G>A	12.37:g.6634761G>A	ENSP00000325017:p.Val743Met					NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.V698M	p.V743M	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			18	3026	+			743					D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	c.2227G>A	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.248016	0.39697	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.31510	2.48;1.49;2.21	5.83	5.83	0.93111	Armadillo-type fold (1);	0.113975	0.64402	D	0.000009	T	0.24236	0.0587	L	0.33753	1.03	0.46823	D	0.999211	P;P;B	0.40619	0.724;0.485;0.394	B;B;B	0.39904	0.284;0.313;0.152	T	0.01889	-1.1253	10	0.27785	T	0.31	-29.8847	11.4065	0.49900	0.1393:0.0:0.8607:0.0	.	698;704;743	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	M	743;615;698;615	ENSP00000325017:V743M;ENSP00000371895:V615M;ENSP00000444417:V698M	ENSP00000325017:V743M	V	+	1	0	NCAPD2	6505022	1.000000	0.71417	0.999000	0.59377	0.106000	0.19336	3.902000	0.56310	2.762000	0.94881	0.655000	0.94253	GTG		0.493	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		4	35	0	0	0	1	0	4	35				
SMARCA4	6597	broad.mit.edu	37	19	11144027	11144027	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:11144027G>A	ENST00000429416.3	+	27	3889	c.3608G>A	c.(3607-3609)cGc>cAc	p.R1203H	SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1203H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1203H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1203H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1203H|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1203H	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1203	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGTGTGCTCCGCCTCTGCACC	0.627			"""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.(3607-3609)cGc>cAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							90.0	86.0	87.0					19																	11144027		2203	4300	6503	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.chr19:11144027G>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.3608G>A	19.37:g.11144027G>A	ENSP00000395654:p.Arg1203His					SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1203H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1203H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1203H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1203H	p.R1203H	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			26	3892	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1203			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3608G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684020	0.88639	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96;-3.96;-3.96;-3.96	4.74	4.74	0.60224	Helicase, C-terminal (1);	0.124066	0.56097	D	0.000033	D	0.98632	0.9542	H	0.94222	3.51	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.993;1.0;1.0;0.993	D;D;D;P;D;D;P	0.85130	0.995;0.997;0.997;0.868;0.99;0.997;0.772	D	0.99640	1.0988	10	0.87932	D	0	-22.9681	16.7067	0.85374	0.0:0.0:1.0:0.0	.	1203;1203;1203;1203;1203;423;1203	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	H	1203;1203;1267;1203;1203;1203;1203;1203	ENSP00000395654:R1203H;ENSP00000350720:R1203H;ENSP00000343896:R1203H;ENSP00000445036:R1203H;ENSP00000392837:R1203H;ENSP00000397783:R1203H;ENSP00000414727:R1203H	ENSP00000343896:R1203H	R	+	2	0	SMARCA4	11005027	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	9.319000	0.96338	2.488000	0.83962	0.558000	0.71614	CGC		0.627	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		8	99	0	0	0	1	0	8	99				
IGSF3	3321	broad.mit.edu	37	1	117131325	117131325	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:117131325T>C	ENST00000369486.3	-	8	3196	c.2431A>G	c.(2431-2433)Aaa>Gaa	p.K811E	IGSF3_ENST00000369483.1_Missense_Mutation_p.K831E|IGSF3_ENST00000318837.6_Missense_Mutation_p.K831E	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	811					lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCTGGCTGTTTCACAGTGACT	0.632																																						ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(2431-2433)Aaa>Gaa		immunoglobulin superfamily, member 3							13.0	15.0	14.0					1																	117131325		2179	4236	6415	SO:0001583	missense	3321					integral to membrane		g.chr1:117131325T>C	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2431A>G	1.37:g.117131325T>C	ENSP00000358498:p.Lys811Glu					IGSF3_ENST00000369483.1_Missense_Mutation_p.K831E|IGSF3_ENST00000318837.6_Missense_Mutation_p.K831E	p.K811E	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	8	3196	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	811					A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.2431A>G	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.101542	0.37048	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03065	4.06;4.07;4.07	3.87	2.66	0.31614	Immunoglobulin subtype (1);	0.446475	0.23981	N	0.042670	T	0.01156	0.0038	N	0.20986	0.625	0.37605	D	0.920709	B;B;B	0.19200	0.016;0.034;0.019	B;B;B	0.18561	0.013;0.022;0.022	T	0.40021	-0.9585	10	0.59425	D	0.04	-35.1545	7.7838	0.29080	0.1855:0.0:0.0:0.8145	.	831;811;831	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	E	811;831;831	ENSP00000358498:K811E;ENSP00000358495:K831E;ENSP00000321184:K831E	ENSP00000321184:K831E	K	-	1	0	IGSF3	116932848	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	3.515000	0.53429	1.610000	0.50200	0.379000	0.24179	AAA		0.632	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		14	15	0	0	0	1	0	14	15				
ZNF831	128611	broad.mit.edu	37	20	57766658	57766658	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr20:57766658C>T	ENST00000371030.2	+	1	584	c.584C>T	c.(583-585)aCg>aTg	p.T195M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	195							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)					CGGACGCAGACGCACCTCAAC	0.672																																						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.(583-585)aCg>aTg		zinc finger protein 831							46.0	54.0	51.0					20																	57766658		2053	4193	6246	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766658C>T	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.584C>T	20.37:g.57766658C>T	ENSP00000360069:p.Thr195Met						p.T195M	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	584	+	all_lung(29;0.0085)		195					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.584C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709678	0.48517	.	.	ENSG00000124203	ENST00000371030	T	0.08546	3.08	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19604	0.0471	L	0.27053	0.805	0.35097	D	0.764876	D	0.71674	0.998	D	0.80764	0.994	T	0.09796	-1.0658	9	0.87932	D	0	-9.9604	18.1834	0.89786	0.0:1.0:0.0:0.0	.	195	Q5JPB2	ZN831_HUMAN	M	195	ENSP00000360069:T195M	ENSP00000360069:T195M	T	+	2	0	ZNF831	57200053	1.000000	0.71417	0.951000	0.38953	0.065000	0.16274	7.755000	0.85180	2.538000	0.85594	0.561000	0.74099	ACG		0.672	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		36	48	0	0	0	1	0	36	48				
MET	4233	broad.mit.edu	37	7	116435788	116435788	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr7:116435788C>G	ENST00000318493.6	+	20	4119	c.3932C>G	c.(3931-3933)aCt>aGt	p.T1311S	MET_ENST00000397752.3_Missense_Mutation_p.T1293S|MET_ENST00000539704.1_Missense_Mutation_p.T163S			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTGATATAACTGTTTACTTG	0.453			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(3877-3879)aCt>aGt		met proto-oncogene							208.0	200.0	202.0					7																	116435788		1881	4108	5989	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116435788C>G	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3932C>G	7.37:g.116435788C>G	ENSP00000317272:p.Thr1311Ser		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1473	MET_ENST00000539704.1_Missense_Mutation_p.T163S|MET_ENST00000318493.6_Missense_Mutation_p.T1311S	p.T1293S	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		20	4078	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	1293			Interaction with RANBP9.|Protein kinase.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.3878C>G	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074593	0.76415	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.34072	1.38;1.38;1.38	5.62	5.62	0.85841	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.042563	0.85682	D	0.000000	T	0.42653	0.1212	N	0.05306	-0.075	0.80722	D	1	P;D	0.69078	0.783;0.997	P;D	0.80764	0.846;0.994	T	0.56226	-0.8014	10	0.72032	D	0.01	.	20.0281	0.97530	0.0:1.0:0.0:0.0	.	1311;1293	P08581-2;P08581	.;MET_HUMAN	S	1293;1311;163	ENSP00000380860:T1293S;ENSP00000317272:T1311S;ENSP00000445020:T163S	ENSP00000317272:T1311S	T	+	2	0	MET	116223024	1.000000	0.71417	0.973000	0.42090	0.919000	0.55068	6.050000	0.71063	2.818000	0.97014	0.655000	0.94253	ACT		0.453	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			4	227	0	0	0	1	0	4	227				
SMARCA4	6597	broad.mit.edu	37	19	11123693	11123693	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:11123693G>A	ENST00000429416.3	+	17	2624	c.2343G>A	c.(2341-2343)atG>atA	p.M781I	SMARCA4_ENST00000589677.1_Missense_Mutation_p.M781I|RN7SL192P_ENST00000584303.1_RNA|SMARCA4_ENST00000444061.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000413806.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000590574.1_Missense_Mutation_p.M781I|SMARCA4_ENST00000541122.2_Missense_Mutation_p.M781I|SMARCA4_ENST00000450717.3_Missense_Mutation_p.M781I|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000344626.4_Missense_Mutation_p.M781I|SMARCA4_ENST00000358026.2_Missense_Mutation_p.M781I	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	781	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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)				CCGACGAGATGGGCCTGGGGA	0.577			"""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.(2341-2343)atG>atA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							169.0	110.0	130.0					19																	11123693		2203	4300	6503	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.chr19:11123693G>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.2343G>A	19.37:g.11123693G>A	ENSP00000395654:p.Met781Ile					SMARCA4_ENST00000429416.3_Missense_Mutation_p.M781I|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000590574.1_Missense_Mutation_p.M781I|SMARCA4_ENST00000589677.1_Missense_Mutation_p.M781I|SMARCA4_ENST00000541122.2_Missense_Mutation_p.M781I|SMARCA4_ENST00000450717.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000444061.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000413806.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000344626.4_Missense_Mutation_p.M781I	p.M781I	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			16	2627	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	781			Helicase ATP-binding.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2343G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820895	0.90873	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44;-3.44;-3.44;-3.44	4.73	4.73	0.59995	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98745	0.9578	H	0.99811	4.8	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.998;0.991;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.992;0.999;0.999	D	0.99177	1.0866	10	0.87932	D	0	-46.3851	16.6409	0.85098	0.0:0.0:1.0:0.0	.	781;781;781;781;781;781;781	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	I	781;781;845;781;781;781;781;781	ENSP00000395654:M781I;ENSP00000350720:M781I;ENSP00000343896:M781I;ENSP00000445036:M781I;ENSP00000392837:M781I;ENSP00000397783:M781I;ENSP00000414727:M781I	ENSP00000343896:M781I	M	+	3	0	SMARCA4	10984693	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	9.657000	0.98554	2.456000	0.83038	0.655000	0.94253	ATG		0.577	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		5	48	0	0	0	1	0	5	48				
OR4K17	390436	broad.mit.edu	37	14	20585888	20585888	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr14:20585888C>T	ENST00000315543.4	+	1	323	c.323C>T	c.(322-324)gCc>gTc	p.A108V		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A108V(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GCTTCTTTTGCCACCCCTAAG	0.398																																						ENST00000315543.4																			1	Substitution - Missense(1)	p.A108V(1)	kidney(1)	kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21						c.(322-324)gCc>gTc		olfactory receptor, family 4, subfamily K, member 17							161.0	168.0	166.0					14																	20585888		2203	4300	6503	SO:0001583	missense	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20585888C>T		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.323C>T	14.37:g.20585888C>T	ENSP00000319197:p.Ala108Val						p.A108V	NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	323	+	all_cancers(95;0.00108)		80					Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	c.323C>T	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	9.977	1.226987	0.22542	.	.	ENSG00000176230	ENST00000315543	T	0.00597	6.31	2.86	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.246509	0.20479	U	0.091527	T	0.00384	0.0012	N	0.04260	-0.245	0.24184	N	0.995571	B	0.06786	0.001	B	0.10450	0.005	T	0.47315	-0.9127	10	0.49607	T	0.09	.	8.9177	0.35592	0.0:0.8792:0.0:0.1208	.	80	Q8NGC6	OR4KH_HUMAN	V	108	ENSP00000319197:A108V	ENSP00000319197:A108V	A	+	2	0	OR4K17	19655728	0.000000	0.05858	0.997000	0.53966	0.547000	0.35210	0.338000	0.19858	0.509000	0.28195	0.404000	0.27445	GCC		0.398	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			4	193	0	0	0	1	0	4	193				
LPAR3	23566	broad.mit.edu	37	1	85331619	85331619	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:85331619T>G	ENST00000440886.1	-	1	223	c.185A>C	c.(184-186)cAt>cCt	p.H62P	LPAR3_ENST00000370611.3_Missense_Mutation_p.H62P|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	62					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GAAGGGGAAATGAAATTTTCT	0.393																																						ENST00000440886.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						c.(184-186)cAt>cCt		lysophosphatidic acid receptor 3							89.0	95.0	93.0					1																	85331619		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331619T>G	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.185A>C	1.37:g.85331619T>G	ENSP00000395389:p.His62Pro					LPAR3_ENST00000370611.3_Missense_Mutation_p.H62P|LPAR3_ENST00000491034.1_5'UTR	p.H62P			Q9UBY5	LPAR3_HUMAN			1	223	-			62					A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.185A>C	CCDS700.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128067	0.77549	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.41400	1.0;1.0	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70684	0.3252	H	0.95780	3.72	0.58432	D	0.999997	D	0.76494	0.999	D	0.87578	0.998	T	0.81163	-0.1058	10	0.87932	D	0	.	15.9608	0.79928	0.0:0.0:0.0:1.0	.	62	Q9UBY5	LPAR3_HUMAN	P	62	ENSP00000395389:H62P;ENSP00000359643:H62P	ENSP00000359643:H62P	H	-	2	0	LPAR3	85104207	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.013000	0.88655	2.174000	0.68829	0.383000	0.25322	CAT		0.393	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		39	55	0	0	0	1	0	39	55				
DENND2C	163259	broad.mit.edu	37	1	115137092	115137092	+	Splice_Site	SNP	A	A	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:115137092A>T	ENST00000393274.1	-	18	3057		c.e18+1		DENND2C_ENST00000393276.3_Splice_Site|DENND2C_ENST00000393277.1_Splice_Site|DENND2C_ENST00000481894.1_Splice_Site	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C						positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTGTCTCATACCTTGTGAAA	0.383																																						ENST00000393274.1																			0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.e18+1		DENN/MADD domain containing 2C							163.0	155.0	158.0					1																	115137092		2203	4300	6503	SO:0001630	splice_region_variant	163259							g.chr1:115137092A>T		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2431+1T>A	1.37:g.115137092A>T						DENND2C_ENST00000481894.1_Splice_Site|DENND2C_ENST00000393276.3_Splice_Site|DENND2C_ENST00000393277.1_Splice_Site		NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	18	3057	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)						B1AL26|Q5TCX6|Q6P3R3	Splice_Site	SNP	ENST00000393274.1	37		CCDS58018.1	.	.	.	.	.	.	.	.	.	.	A	19.97	3.924586	0.73213	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8448	0.70251	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DENND2C	114938615	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	5.979000	0.70508	2.248000	0.74166	0.456000	0.33151	.		0.383	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459	Intron	5	57	0	0	0	1	0	5	57				
TCEB3B	51224	broad.mit.edu	37	18	44560214	44560214	+	Silent	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr18:44560214G>A	ENST00000332567.4	-	1	1774	c.1422C>T	c.(1420-1422)taC>taT	p.Y474Y	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	474					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAAGCGGATCGTAGTTGGCCT	0.607																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1420-1422)taC>taT		transcription elongation factor B polypeptide 3B (elongin A2)							58.0	65.0	63.0					18																	44560214		2203	4300	6503	SO:0001819	synonymous_variant	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560214G>A	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1422C>T	18.37:g.44560214G>A						KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	p.Y474Y	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	1774	-			474					Q9P2V9	Silent	SNP	ENST00000332567.4	37	c.1422C>T	CCDS11932.1																																																																																				0.607	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		5	92	0	0	0	1	0	5	92				
KCNB2	9312	broad.mit.edu	37	8	73848182	73848182	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr8:73848182G>A	ENST00000523207.1	+	3	1180	c.592G>A	c.(592-594)Gtg>Atg	p.V198M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	198					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.V198M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CCTGGCCATCGTGTCTATCCT	0.463																																						ENST00000523207.1																			1	Substitution - Missense(1)	p.V198M(1)	endometrium(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(592-594)Gtg>Atg		potassium voltage-gated channel, Shab-related subfamily, member 2							231.0	231.0	231.0					8																	73848182		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848182G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.592G>A	8.37:g.73848182G>A	ENSP00000430846:p.Val198Met						p.V198M	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1180	+	Breast(64;0.137)		198					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.592G>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854152	0.71719	.	.	ENSG00000182674	ENST00000523207	D	0.97688	-4.49	5.87	5.0	0.66597	.	0.171423	0.27725	N	0.018110	D	0.96488	0.8854	L	0.45051	1.395	0.43308	D	0.99531	D	0.63046	0.992	P	0.50791	0.65	D	0.96097	0.9066	10	0.87932	D	0	.	10.8619	0.46831	0.1429:0.0:0.8571:0.0	.	198	Q92953	KCNB2_HUMAN	M	198	ENSP00000430846:V198M	ENSP00000430846:V198M	V	+	1	0	KCNB2	74010736	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.301000	0.65727	1.485000	0.48380	0.655000	0.94253	GTG		0.463	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		106	141	0	0	0	1	0	106	141				
BBX	56987	broad.mit.edu	37	3	107491781	107491781	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:107491781C>G	ENST00000325805.8	+	11	1500	c.1213C>G	c.(1213-1215)Cat>Gat	p.H405D	BBX_ENST00000406780.1_Missense_Mutation_p.H405D|BBX_ENST00000402543.1_Missense_Mutation_p.H405D|BBX_ENST00000415149.2_Missense_Mutation_p.H405D|BBX_ENST00000416476.2_Intron			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	405					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CAAATGTAGTCATTTTCCTGA	0.328																																						ENST00000415149.2																			0				breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49						c.(1213-1215)Cat>Gat		bobby sox homolog (Drosophila)							73.0	80.0	78.0					3																	107491781		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107491781C>G	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1213C>G	3.37:g.107491781C>G	ENSP00000319974:p.His405Asp					BBX_ENST00000325805.8_Missense_Mutation_p.H405D|BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Missense_Mutation_p.H405D|BBX_ENST00000402543.1_Missense_Mutation_p.H405D	p.H405D	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		11	1540	+			405					A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.1213C>G	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358798	0.24598	.	.	ENSG00000114439	ENST00000415149;ENST00000325767;ENST00000402543;ENST00000325805;ENST00000402163;ENST00000406780	D;D;D;D;D	0.98585	-4.39;-4.4;-4.39;-5.01;-4.39	6.16	6.16	0.99307	.	0.456083	0.25037	N	0.033634	D	0.95204	0.8445	N	0.17082	0.46	0.30621	N	0.758522	P;P;P	0.49447	0.924;0.924;0.857	P;P;B	0.44860	0.462;0.462;0.359	D	0.93137	0.6538	10	0.39692	T	0.17	-3.3108	12.177	0.54190	0.1255:0.7387:0.1358:0.0	.	405;405;405	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	D	405;256;405;405;405;405	ENSP00000408358:H405D;ENSP00000385317:H405D;ENSP00000319974:H405D;ENSP00000385518:H405D;ENSP00000385530:H405D	ENSP00000319742:H256D	H	+	1	0	BBX	108974471	0.202000	0.23423	1.000000	0.80357	0.881000	0.50899	2.126000	0.42026	2.937000	0.99478	0.650000	0.86243	CAT		0.328	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		7	65	0	0	0	1	0	7	65				
HEPH	9843	broad.mit.edu	37	X	65486345	65486345	+	Missense_Mutation	SNP	A	A	G	rs200608069		TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chrX:65486345A>G	ENST00000343002.2	+	20	3972	c.3308A>G	c.(3307-3309)aAg>aGg	p.K1103R	HEPH_ENST00000441993.2_Missense_Mutation_p.K1105R|HEPH_ENST00000336279.5_Missense_Mutation_p.K836R|HEPH_ENST00000519389.1_Missense_Mutation_p.K1157R|HEPH_ENST00000374727.3_Missense_Mutation_p.K1106R|HEPH_ENST00000419594.1_Missense_Mutation_p.K914R			Q9BQS7	HEPH_HUMAN	hephaestin	1103					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATCCCCATAAAGAATGTTGAG	0.488													A|||	1	0.000264901	0.0	0.0	3775	,	,		14640	0.001		0.0	False		,,,				2504	0.0					ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(3469-3471)aAg>aGg		hephaestin							305.0	206.0	239.0					X																	65486345		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65486345A>G	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3308A>G	X.37:g.65486345A>G	ENSP00000343939:p.Lys1103Arg					HEPH_ENST00000374727.3_Missense_Mutation_p.K1106R|HEPH_ENST00000419594.1_Missense_Mutation_p.K914R|HEPH_ENST00000441993.2_Missense_Mutation_p.K1105R|HEPH_ENST00000336279.5_Missense_Mutation_p.K836R|HEPH_ENST00000343002.2_Missense_Mutation_p.K1103R	p.K1157R			Q9BQS7	HEPH_HUMAN			21	3649	+			1103					B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.3470A>G		1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	15.45	2.837117	0.50951	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99292	-5.7;-5.69;-5.69;-5.67;-5.7;-5.69	5.11	3.95	0.45737	.	0.364044	0.23474	N	0.047797	D	0.96531	0.8868	L	0.29908	0.895	0.09310	N	1	B;B;B	0.22851	0.001;0.076;0.001	B;B;B	0.25614	0.001;0.062;0.001	D	0.90548	0.4507	10	0.13853	T	0.58	.	7.5349	0.27704	0.9011:0.0:0.0988:0.0	.	1157;914;1103	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	R	1157;1106;836;1105;914;1103	ENSP00000430620:K1157R;ENSP00000363859:K1106R;ENSP00000337418:K836R;ENSP00000411687:K1105R;ENSP00000413211:K914R;ENSP00000343939:K1103R	ENSP00000337418:K836R	K	+	2	0	HEPH	65403070	0.034000	0.19679	0.086000	0.20670	0.983000	0.72400	0.945000	0.29056	0.776000	0.33473	0.486000	0.48141	AAG		0.488	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		7	30	0	0	0	1	0	7	30				
CAMSAP1	157922	broad.mit.edu	37	9	138713097	138713097	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr9:138713097G>A	ENST00000389532.4	-	11	3474	c.3410C>T	c.(3409-3411)cCt>cTt	p.P1137L	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P1148L|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P859L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1137					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GCTGCTGGCAGGGAAGGGTCT	0.637																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(3409-3411)cCt>cTt		calmodulin regulated spectrin-associated protein 1							54.0	67.0	62.0					9																	138713097		2202	4298	6500	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138713097G>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3410C>T	9.37:g.138713097G>A	ENSP00000374183:p.Pro1137Leu					CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P859L|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P1148L	p.P1137L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	3474	-			1137					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.3410C>T	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766666	0.49574	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.15718	2.4;2.4;2.4	5.29	4.39	0.52855	.	0.485483	0.23426	N	0.048301	T	0.22282	0.0537	M	0.65975	2.015	0.18873	N	0.999984	B;B	0.11235	0.004;0.002	B;B	0.09377	0.003;0.004	T	0.17349	-1.0372	10	0.87932	D	0	-2.131	14.5017	0.67727	0.0719:0.0:0.9281:0.0	.	1137;1148	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	L	1137;859;1148	ENSP00000374183:P1137L;ENSP00000312463:P859L;ENSP00000386420:P1148L	ENSP00000312463:P859L	P	-	2	0	CAMSAP1	137852918	0.850000	0.29656	0.003000	0.11579	0.288000	0.27193	3.803000	0.55560	1.351000	0.45789	0.561000	0.74099	CCT		0.637	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		4	54	0	0	0	1	0	4	54				
AHNAK2	113146	broad.mit.edu	37	14	105418743	105418743	+	Silent	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr14:105418743C>T	ENST00000333244.5	-	7	3164	c.3045G>A	c.(3043-3045)aaG>aaA	p.K1015K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1015						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTTGATGGACTTCCCTGGGG	0.592																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3043-3045)aaG>aaA		AHNAK nucleoprotein 2							204.0	220.0	215.0					14																	105418743		1973	4174	6147	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105418743C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3045G>A	14.37:g.105418743C>T						AHNAK2_ENST00000557457.1_Intron	p.K1015K	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3164	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1015					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.3045G>A	CCDS45177.1																																																																																				0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	206	0	0	0	1	0	5	206				
CDH16	1014	broad.mit.edu	37	16	66946006	66946006	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr16:66946006A>C	ENST00000299752.4	-	13	1779	c.1586T>G	c.(1585-1587)gTg>gGg	p.V529G	CDH16_ENST00000570262.1_Missense_Mutation_p.V449G|CDH16_ENST00000394055.3_Missense_Mutation_p.V529G|CDH16_ENST00000565796.1_Missense_Mutation_p.V529G|CDH16_ENST00000568632.1_Missense_Mutation_p.V432G	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	529	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.V529A(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CACCACCACCACCACCTCATG	0.642																																						ENST00000299752.4																			1	Substitution - Missense(1)	p.V529A(1)	large_intestine(1)	endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(1585-1587)gTg>gGg		cadherin 16, KSP-cadherin							45.0	44.0	44.0					16																	66946006		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66946006A>C	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1586T>G	16.37:g.66946006A>C	ENSP00000299752:p.Val529Gly					CDH16_ENST00000568632.1_Missense_Mutation_p.V432G|CDH16_ENST00000570262.1_Missense_Mutation_p.V449G|CDH16_ENST00000565796.1_Missense_Mutation_p.V529G|CDH16_ENST00000394055.3_Missense_Mutation_p.V529G	p.V529G	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	13	1779	-		Ovarian(137;0.0563)	529			Cadherin 5.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.1586T>G	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.158582	0.38119	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.53640	0.61;0.61	5.07	5.07	0.68467	Cadherin (4);Cadherin-like (1);	0.074361	0.53938	D	0.000050	T	0.70789	0.3264	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.984;0.999;0.999	T	0.76030	-0.3108	10	0.72032	D	0.01	-8.8008	11.509	0.50483	1.0:0.0:0.0:0.0	.	529;529;529	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	G	529;529;493	ENSP00000377619:V529G;ENSP00000299752:V529G	ENSP00000299752:V529G	V	-	2	0	CDH16	65503507	0.912000	0.30974	0.993000	0.49108	0.047000	0.14425	2.918000	0.48829	2.044000	0.60594	0.379000	0.24179	GTG		0.642	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		18	27	0	0	0	1	0	18	27				
COL6A5	256076	broad.mit.edu	37	3	130188154	130188154	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:130188154C>T	ENST00000432398.2	+	38	7800	c.7306C>T	c.(7306-7308)Caa>Taa	p.Q2436*	COL6A5_ENST00000265379.6_Nonsense_Mutation_p.Q2436*	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2436	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGCCAAGTGTCAAGGCTACTC	0.408																																						ENST00000265379.6																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(7306-7308)Caa>Taa		collagen, type VI, alpha 5							89.0	73.0	78.0					3																	130188154		1885	4116	6001	SO:0001587	stop_gained	256076				axon guidance|cell adhesion	collagen		g.chr3:130188154C>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7306C>T	3.37:g.130188154C>T	ENSP00000390895:p.Gln2436*					COL6A5_ENST00000432398.2_Nonsense_Mutation_p.Q2436*	p.Q2436*			A8TX70	CO6A5_HUMAN			38	7800	+			2436			Nonhelical region.|VWFA 10.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Nonsense_Mutation	SNP	ENST00000432398.2	37	c.7306C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	50|50	16.658899|16.658899	0.99869|0.99869	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	.|.	.|.	.|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.141787|.	0.32258|.	N|.	0.006350|.	.|T	.|0.63141	.|0.2486	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69691	.|-0.5077	.|3	0.09843|.	T|.	0.71|.	.|.	13.1442|13.1442	0.59452|0.59452	0.0:0.8389:0.1611:0.0|0.0:0.8389:0.1611:0.0	.|.	.|.	.|.	.|.	X|L	2436;2436;379;271|687	.|.	ENSP00000265379:Q2436X|.	Q|S	+|+	1|2	0|0	COL6A5|COL6A5	131670844|131670844	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.656000|0.656000	0.38851|0.38851	2.936000|2.936000	0.48971|0.48971	2.388000|2.388000	0.81334|0.81334	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.408	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		4	29	0	0	0	1	0	4	29				
PTCHD4	442213	broad.mit.edu	37	6	47846116	47846116	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr6:47846116G>A	ENST00000339488.4	-	3	2497	c.2464C>T	c.(2464-2466)Cgt>Tgt	p.R822C		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	822						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CGCTTGGCACGTTTCTTTTTC	0.448																																						ENST00000339488.4																			0											c.(2464-2466)Cgt>Tgt		patched domain containing 4							135.0	136.0	136.0					6																	47846116		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846116G>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2464C>T	6.37:g.47846116G>A	ENSP00000341914:p.Arg822Cys						p.R822C	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	2497	-			822					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.2464C>T	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324339	0.60634	.	.	ENSG00000244694	ENST00000339488	D	0.92545	-3.06	6.16	6.16	0.99307	.	0.106399	0.64402	D	0.000008	D	0.89636	0.6772	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.92027	0.5630	10	0.62326	D	0.03	.	15.5636	0.76269	0.0:0.0:0.8622:0.1378	.	822	Q6ZW05	CF138_HUMAN	C	822	ENSP00000341914:R822C	ENSP00000341914:R822C	R	-	1	0	C6orf138	47954075	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.267000	0.78462	2.937000	0.99478	0.650000	0.86243	CGT		0.448	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		5	110	0	0	0	1	0	5	110				
ATP7B	540	broad.mit.edu	37	13	52524503	52524503	+	Missense_Mutation	SNP	C	C	T	rs368589213		TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr13:52524503C>T	ENST00000242839.4	-	10	2636	c.2480G>A	c.(2479-2481)cGg>cAg	p.R827Q	ATP7B_ENST00000400366.3_Missense_Mutation_p.R716Q|ATP7B_ENST00000418097.2_Missense_Mutation_p.R827Q|ATP7B_ENST00000448424.2_Missense_Mutation_p.R749Q|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000417240.2_Missense_Mutation_p.R99Q|ATP7B_ENST00000344297.5_Missense_Mutation_p.R665Q	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	827					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GATATCGCCCCGCTGCACCAG	0.572									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55	GRCh37	CM076005	ATP7B	M		c.(2479-2481)cGg>cAg		ATPase, Cu++ transporting, beta polypeptide		C	GLN/ARG,GLN/ARG	2,4296		0,2,2147	74.0	78.0	77.0		2480,1994	5.5	1.0	13		77	0,8512		0,0,4256	no	missense,missense	ATP7B	NM_000053.3,NM_001005918.2	43,43	0,2,6403	TT,TC,CC		0.0,0.0465,0.0156	probably-damaging,probably-damaging	827/1466,665/1259	52524503	2,12808	2149	4256	6405	SO:0001583	missense	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52524503C>T	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.2480G>A	13.37:g.52524503C>T	ENSP00000242839:p.Arg827Gln					ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000448424.2_Missense_Mutation_p.R749Q|ATP7B_ENST00000400366.3_Missense_Mutation_p.R716Q|ATP7B_ENST00000418097.2_Missense_Mutation_p.R827Q|ATP7B_ENST00000344297.5_Missense_Mutation_p.R665Q|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000417240.2_Missense_Mutation_p.R99Q	p.R827Q	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	10	2636	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	827					Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.2480G>A	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	36	5.788151	0.96945	4.65E-4	0.0	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000418097	D;D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67;-2.67	5.54	5.54	0.83059	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.92309	0.7560	N	0.25060	0.705	0.80722	D	1	D;P;D;D;B;D;P	0.89917	0.99;0.901;1.0;0.991;0.014;1.0;0.956	P;P;D;P;B;D;P	0.91635	0.515;0.613;0.999;0.716;0.002;0.998;0.506	D	0.93242	0.6627	10	0.62326	D	0.03	-8.5042	19.4611	0.94918	0.0:1.0:0.0:0.0	.	749;779;827;99;716;665;827	E7ET55;B7ZLR4;F5H748;E7EQQ2;P35670-3;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	Q	827;716;665;99;749;827	ENSP00000242839:R827Q;ENSP00000383217:R716Q;ENSP00000342559:R665Q;ENSP00000390360:R99Q;ENSP00000416738:R749Q;ENSP00000393343:R827Q	ENSP00000242839:R827Q	R	-	2	0	ATP7B	51422504	0.999000	0.42202	0.975000	0.42487	0.943000	0.58893	7.732000	0.84908	2.608000	0.88229	0.655000	0.94253	CGG		0.572	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		3	30	0	0	0	1	0	3	30				
PRKD2	25865	broad.mit.edu	37	19	47181709	47181709	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:47181709A>G	ENST00000291281.4	-	16	2507	c.2282T>C	c.(2281-2283)aTc>aCc	p.I761T	PRKD2_ENST00000601806.1_Missense_Mutation_p.I604T|PRKD2_ENST00000593492.1_5'Flank|PRKD2_ENST00000600194.1_Missense_Mutation_p.I604T|PRKD2_ENST00000433867.1_Missense_Mutation_p.I761T|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000595515.1_Missense_Mutation_p.I761T			Q9BZL6	KPCD2_HUMAN	protein kinase D2	761	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGCGTTCTGGATCTGGTCATT	0.622																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(2281-2283)aTc>aCc		protein kinase D2							146.0	113.0	124.0					19																	47181709		2203	4300	6503	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47181709A>G	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2282T>C	19.37:g.47181709A>G	ENSP00000291281:p.Ile761Thr					PRKD2_ENST00000291281.4_Missense_Mutation_p.I761T|PRKD2_ENST00000601806.1_Missense_Mutation_p.I604T|PRKD2_ENST00000600194.1_Missense_Mutation_p.I604T|PRKD2_ENST00000595515.1_Missense_Mutation_p.I761T	p.I761T	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	17	2759	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	761			Protein kinase.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.2282T>C	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.508873	0.85282	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	D;D	0.83419	-1.72;-1.72	4.65	4.65	0.58169	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000004	D	0.87669	0.6235	L	0.47078	1.49	0.80722	D	1	D;D;D	0.89917	0.993;1.0;1.0	D;D;D	0.97110	0.987;0.999;1.0	D	0.88863	0.3327	10	0.87932	D	0	-32.9686	13.3949	0.60846	1.0:0.0:0.0:0.0	.	761;246;761	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	T	761	ENSP00000291281:I761T;ENSP00000393978:I761T	ENSP00000291281:I761T	I	-	2	0	PRKD2	51873549	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.238000	0.95380	1.872000	0.54250	0.460000	0.39030	ATC		0.622	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		13	22	0	0	0	1	0	13	22				
SHANK1	50944	broad.mit.edu	37	19	51169573	51169573	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:51169573C>T	ENST00000293441.1	-	22	5662	c.5644G>A	c.(5644-5646)Ggg>Agg	p.G1882R	SHANK1_ENST00000359082.3_Missense_Mutation_p.G1873R|SHANK1_ENST00000391813.1_Missense_Mutation_p.G1269R|SHANK1_ENST00000391814.1_Missense_Mutation_p.G1890R|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1882					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAGGAGCCCCCAAACTGCTGA	0.672																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(5644-5646)Ggg>Agg		SH3 and multiple ankyrin repeat domains 1							24.0	24.0	24.0					19																	51169573		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51169573C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.5644G>A	19.37:g.51169573C>T	ENSP00000293441:p.Gly1882Arg					SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.G1890R|SHANK1_ENST00000391813.1_Missense_Mutation_p.G1269R|SHANK1_ENST00000359082.3_Missense_Mutation_p.G1873R	p.G1882R	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	22	5662	-		all_neural(266;0.057)	1882					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.5644G>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	6.962	0.547389	0.13312	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.49720	0.89;1.35;0.88;0.77	2.89	2.89	0.33648	.	0.196490	0.31010	U	0.008434	T	0.56124	0.1964	L	0.40543	1.245	0.31358	N	0.681699	D;D	0.76494	0.999;0.999	D;D	0.80764	0.986;0.994	T	0.60944	-0.7162	10	0.66056	D	0.02	.	11.0528	0.47901	0.0:1.0:0.0:0.0	.	1882;1269	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	R	1882;1269;1873;1890	ENSP00000293441:G1882R;ENSP00000375689:G1269R;ENSP00000351984:G1873R;ENSP00000375690:G1890R	ENSP00000293441:G1882R	G	-	1	0	SHANK1	55861385	0.993000	0.37304	1.000000	0.80357	0.706000	0.40770	2.324000	0.43831	1.620000	0.50308	0.195000	0.17529	GGG		0.672	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		4	22	0	0	0	1	0	4	22				
C1orf168	199920	broad.mit.edu	37	1	57219575	57219575	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:57219575delT	ENST00000343433.6	-	8	1244	c.1164delA	c.(1162-1164)aaafs	p.K388fs	C1orf168_ENST00000484327.1_Intron	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	388										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CACATGGTTGTTTTTCCTTCA	0.333																																						ENST00000343433.6																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						c.(1162-1164)aafs		chromosome 1 open reading frame 168							218.0	189.0	199.0					1																	57219575		2201	4300	6501	SO:0001589	frameshift_variant	199920							g.chr1:57219575delT	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1164delA	1.37:g.57219575delT	ENSP00000345972:p.Lys388fs					C1orf168_ENST00000484327.1_Intron	p.K388fs	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN			8	1244	-			388					Q63HM3|Q6ZUY6	Frame_Shift_Del	DEL	ENST00000343433.6	37	c.1164delA	CCDS30729.1																																																																																				0.333	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		11	44						11	44	---	---	---	---
GNAI2	2771	broad.mit.edu	37	3	50294410	50294412	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:50294410_50294412delCAA	ENST00000313601.6	+	7	1149_1151	c.765_767delCAA	c.(763-768)tgcaac>tgc	p.N257del	GNAI2_ENST00000451956.1_In_Frame_Del_p.N220del|GNAI2_ENST00000440628.1_In_Frame_Del_p.N205del|GNAI2_ENST00000536647.1_In_Frame_Del_p.N176del|GNAI2_ENST00000266027.5_In_Frame_Del_p.N241del|GNAI2_ENST00000422163.1_In_Frame_Del_p.N241del|GNAI2_ENST00000491100.1_3'UTR	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	257					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		ATAGCATCTGCAACAACAAGTGG	0.532											OREG0015582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000313601.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16						c.(763-768)tgc>tg		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2																																				SO:0001651	inframe_deletion	2771				adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr3:50294410_50294412delCAA	X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"""GTP-binding regulatory protein Gi alpha-2 chain"""	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.765_767delCAA	3.37:g.50294416_50294418delCAA	ENSP00000312999:p.Asn257del		OREG0015582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	GNAI2_ENST00000440628.1_In_Frame_Del_p.CN203del|GNAI2_ENST00000451956.1_In_Frame_Del_p.CN218del|GNAI2_ENST00000422163.1_In_Frame_Del_p.CN239del|GNAI2_ENST00000536647.1_In_Frame_Del_p.CN174del|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000266027.5_In_Frame_Del_p.CN239del	p.CN255del	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)	7	1149_1151	+			255					B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	In_Frame_Del	DEL	ENST00000313601.6	37	c.765_767delCAA	CCDS2813.1																																																																																				0.532	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070		12	79						12	79	---	---	---	---
CNPY3	10695	broad.mit.edu	37	6	42897358	42897360	+	In_Frame_Del	DEL	TGC	TGC	-	rs570105218	byFrequency	TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr6:42897358_42897360delTGC	ENST00000372836.4	+	1	421_423	c.50_52delTGC	c.(49-54)ttgctg>ttg	p.17_18LL>L	CNPY3_ENST00000394142.3_In_Frame_Del_p.17_18LL>L	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	17					innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)		p.L25delL(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTCTTCCCTtgctgctgctgct	0.695																																						ENST00000372836.4																			1	Deletion - In frame(1)	p.L25delL(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6						c.(49-54)ttg>t		canopy FGF signaling regulator 3																																				SO:0001651	inframe_deletion	10695				innate immune response	endoplasmic reticulum		g.chr6:42897358_42897360delTGC	U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"""Trinucleotide (CAG) repeat containing"""	11968	protein-coding gene	gene with protein product		610774	"""trinucleotide repeat containing 5"", ""canopy 3 homolog (zebrafish)"""	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.50_52delTGC	6.37:g.42897367_42897369delTGC	ENSP00000361926:p.Leu25del					CNPY3_ENST00000394142.3_In_Frame_Del_p.LL23del	p.LL23del	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		1	421_423	+	Colorectal(47;0.196)		23					O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	In_Frame_Del	DEL	ENST00000372836.4	37	c.50_52delTGC	CCDS4875.1																																																																																				0.695	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040564.1	NM_006586		2	4						2	4	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48314805	48314807	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr7:48314805_48314807delTCT	ENST00000435803.1	+	17	5566_5568	c.5542_5544delTCT	c.(5542-5544)tctdel	p.S1850del		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1850					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGGCTCATGTCTTCTTCCTTTT	0.443																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(5542-5544)del		ATP-binding cassette, sub-family A (ABC1), member 13																																				SO:0001651	inframe_deletion	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48314805_48314807delTCT	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5542_5544delTCT	7.37:g.48314808_48314810delTCT	ENSP00000411096:p.Ser1850del						p.S1850del	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	5566_5568	+			1850					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	In_Frame_Del	DEL	ENST00000435803.1	37	c.5542_5544delTCT	CCDS47584.1																																																																																				0.443	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		14	19						14	19	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139393369	139393370	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr9:139393369_139393370delTT	ENST00000277541.6	-	33	6236_6237	c.6161_6162delAA	c.(6160-6162)aaafs	p.K2054fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2054					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCTGCATATCTTTGTTAGCCCC	0.614			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(6160-6162)afs		notch 1																																				SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139393369_139393370delTT	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6161_6162delAA	9.37:g.139393369_139393370delTT	ENSP00000277541:p.Lys2054fs	HNSCC(8;0.001)					p.K2054fs	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	33	6236_6237	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2054					Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	c.6161_6162delAA	CCDS43905.1																																																																																				0.614	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		26	162						26	162	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		4	Deletion - In frame(4)	p.F357delF(4)	upper_aerodigestive_tract(2)|central_nervous_system(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1069-1074)tac>t		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413070_139413072delAGA	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1070_1072delTCT	9.37:g.139413070_139413072delAGA	ENSP00000277541:p.Phe357del	HNSCC(8;0.001)					p.FY357del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1145_1147	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	357			EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1070_1072delTCT	CCDS43905.1																																																																																				0.655	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		8	29						8	29	---	---	---	---
KBTBD4	55709	broad.mit.edu	37	11	47594890	47594890	+	Frame_Shift_Del	DEL	T	T	-	rs146935371		TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr11:47594890delT	ENST00000526005.1	-	4	1302	c.1149delA	c.(1147-1149)ctafs	p.L383fs	KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L399fs|PTPMT1_ENST00000527079.2_3'UTR|KBTBD4_ENST00000533290.1_Frame_Shift_Del_p.L408fs|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L383fs|NDUFS3_ENST00000533507.1_Intron			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	383										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						CCTCCCCCCCTAGTAAGTAGA	0.507																																						ENST00000533290.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(1222-1224)ctfs		kelch repeat and BTB (POZ) domain containing 4			,,,	1,4263		0,1,2131	129.0	121.0	124.0		,,,	5.8	0.8	11		126	3,8251		0,3,4124	no	utr-3,frameshift,frameshift,utr-3	KBTBD4,PTPMT1	NM_175732.2,NM_018095.4,NM_016506.5,NM_001143984.1	,,,	0,4,6255	A1A1,A1R,RR		0.0363,0.0235,0.032	,,,	,,,	47594890	4,12514	2201	4298	6499	SO:0001589	frameshift_variant	55709							g.chr11:47594890delT	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.1149delA	11.37:g.47594890delT	ENSP00000433340:p.Leu383fs					KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L383fs|PTPMT1_ENST00000527079.2_3'UTR|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L399fs|KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.L383fs	p.L408fs			Q9NVX7	KBTB4_HUMAN			3	1938	-			383					D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Frame_Shift_Del	DEL	ENST00000526005.1	37	c.1224delA	CCDS7940.1																																																																																				0.507	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		10	105						10	105	---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7045601	7045603	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr12:7045601_7045603delTCC	ENST00000356654.4	+	5	1408_1410	c.1171_1173delTCC	c.(1171-1173)tccdel	p.S395del	ATN1_ENST00000396684.2_In_Frame_Del_p.S395del	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	395	Poly-Ser.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						ttccagttcttcctcctcttcct	0.586																																						ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(1171-1173)del		atrophin 1																																				SO:0001651	inframe_deletion	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045601_7045603delTCC	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1171_1173delTCC	12.37:g.7045604_7045606delTCC	ENSP00000349076:p.Ser395del					ATN1_ENST00000396684.2_In_Frame_Del_p.S395del	p.S395del	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			5	1408_1410	+			395			Poly-Ser.		Q99495|Q99621|Q9UEK7	In_Frame_Del	DEL	ENST00000356654.4	37	c.1171_1173delTCC	CCDS31734.1																																																																																				0.586	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		10	65						10	65	---	---	---	---
RP11-377D9.3	0	broad.mit.edu	37	12	13174141	13174142	+	lincRNA	INS	-	-	AACAAC	rs112328257|rs200245346|rs71436744	byFrequency	TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr12:13174141_13174142insAACAAC	ENST00000543321.1	+	0	1025																											tctgtctcaaaaacaacaacaa	0.55														3331	0.665136	0.6921	0.6945	5008	,	,		16318	0.745		0.5417	False		,,,				2504	0.6524					ENST00000543321.1																			0																																																			0							g.chr12:13174141_13174142insAACAAC																													12.37:g.13174142_13174147dupAACAAC														0	1025	+									RNA	INS	ENST00000543321.1	37																																																																																						0.550	RP11-377D9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000401005.1			3	4						3	4	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7495872	7495874	+	In_Frame_Del	DEL	CGG	CGG	-	rs376204328		TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr17:7495872_7495874delCGG	ENST00000250113.7	-	15	2107_2109	c.1773_1775delCCG	c.(1771-1776)cgccgt>cgt	p.591_592RR>R	SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000538513.2_5'Flank|MPDU1_ENST00000423172.2_3'UTR|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000570788.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	591	Poly-Arg.		R -> P (in dbSNP:rs36013555).			cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCACGGTTACGGCGGCGGCGGC	0.547																																						ENST00000250113.7																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1771-1776)cgt>cg		fragile X mental retardation, autosomal homolog 2																																				SO:0001651	inframe_deletion	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7495872_7495874delCGG	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1773_1775delCCG	17.37:g.7495881_7495883delCGG	ENSP00000250113:p.Arg592del					MPDU1_ENST00000423172.2_3'UTR	p.RR591del	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	15	2107_2109	-			591		R -> P (in dbSNP:rs36013555).	Poly-Arg.		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	In_Frame_Del	DEL	ENST00000250113.7	37	c.1773_1775delCCG	CCDS45604.1																																																																																				0.547	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			7	275						7	275	---	---	---	---
SYDE1	85360	broad.mit.edu	37	19	15224628	15224630	+	In_Frame_Del	DEL	GAG	GAG	-	rs367745925		TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:15224628_15224630delGAG	ENST00000342784.2	+	8	2093_2095	c.2062_2064delGAG	c.(2062-2064)gagdel	p.E689del	SYDE1_ENST00000600440.1_In_Frame_Del_p.E622del|SYDE1_ENST00000600252.1_In_Frame_Del_p.E346del	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	689					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						GGACGAGGACGAGGAGGTCGGCG	0.64																																						ENST00000600252.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						c.(1033-1035)del		synapse defective 1, Rho GTPase, homolog 1 (C. elegans)				4,4260		1,2,2129						-7.4	0.6			108	18,8236		6,6,4115	no	coding	SYDE1	NM_033025.4		7,8,6244	A1A1,A1R,RR		0.2181,0.0938,0.1757				22,12496				SO:0001651	inframe_deletion	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15224628_15224630delGAG	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.2062_2064delGAG	19.37:g.15224631_15224633delGAG	ENSP00000341489:p.Glu689del					SYDE1_ENST00000600440.1_In_Frame_Del_p.E622del|SYDE1_ENST00000342784.2_In_Frame_Del_p.E689del	p.E346del			Q6ZW31	SYDE1_HUMAN			5	2675_2677	+			689					Q7L2I8|Q8N6J2|Q9H8K4	In_Frame_Del	DEL	ENST00000342784.2	37	c.1033_1035delGAG	CCDS12324.1																																																																																				0.640	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		8	184						8	184	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			3	4						3	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				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.F2113fs*9(1)|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						AGTAGAAATGATAAATAATCGTCC	0.289			"""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"""		2	Unknown(1)|Deletion - Frameshift(1)	p.F2113fs*9(1)|p.?(1)	bone(1)|pancreas(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						c.(6337-6342)tcfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	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:76814303_76814306delATAA	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.6338_6341delTTAT	X.37:g.76814307_76814310delATAA	ENSP00000362441:p.Phe2113fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs	p.FI2113fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			29	6552_6555	-			2113			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.6338_6341delTTAT	CCDS14434.1																																																																																				0.289	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		13	1						13	1	---	---	---	---
