#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CCDC27	148870	broad.mit.edu	37	1	3669095	3669095	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:3669095A>G	ENST00000294600.2	+	1	134	c.50A>G	c.(49-51)gAt>gGt	p.D17G		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	17										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CTGAAGAGAGATCCACGGGAA	0.572																																						uc001akv.2		NA																	0				skin(1)	1						c.(49-51)GAT>GGT		coiled-coil domain containing 27							106.0	97.0	100.0					1																	3669095		2203	4300	6503	SO:0001583	missense	148870							g.chr1:3669095A>G		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.50A>G	1.37:g.3669095A>G	ENSP00000294600:p.Asp17Gly						p.D17G	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	1	131	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	17					Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	c.50A>G	CCDS50.1	.	.	.	.	.	.	.	.	.	.	A	5.414	0.261505	0.10239	.	.	ENSG00000162592	ENST00000294600	T	0.21932	1.98	3.41	-2.4	0.06583	.	45.459000	0.00815	N	0.001530	T	0.10637	0.0260	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29852	-0.9998	10	0.87932	D	0	3.2296	2.6204	0.04915	0.3372:0.0:0.3088:0.354	.	17	Q2M243	CCD27_HUMAN	G	17	ENSP00000294600:D17G	ENSP00000294600:D17G	D	+	2	0	CCDC27	3658955	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.843000	0.01680	-0.444000	0.07170	-0.182000	0.12963	GAT		0.572	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		13	45	0	0	0	0	13	45				
NBPF1	55672	broad.mit.edu	37	1	16891305	16891305	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:16891305G>A	ENST00000430580.2	-	28	4060	c.3173C>T	c.(3172-3174)cCc>cTc	p.P1058L		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1038	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AAGTTACCTGGGGCATGGTGG	0.438																																						uc009vos.1		NA																	0					0						c.(3397-3399)CCC>CTC		hypothetical protein LOC55672							53.0	26.0	40.0					1																	16891305		597	596	1193	SO:0001583	missense	55672					cytoplasm		g.chr1:16891305G>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3173C>T	1.37:g.16891305G>A	ENSP00000474456:p.Pro1058Leu					uc001ayw.2_5'Flank	p.P1133L	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	30	4286	-			1133			NBPF 8.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.3398C>T																																																																																					0.438	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		8	521	0	0	0	0	8	521				
FOXJ3	22887	broad.mit.edu	37	1	42660589	42660589	+	Silent	SNP	T	T	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:42660589T>G	ENST00000372572.1	-	10	1217	c.906A>C	c.(904-906)tcA>tcC	p.S302S	FOXJ3_ENST00000545068.1_Silent_p.S302S|FOXJ3_ENST00000372573.1_Silent_p.S302S|FOXJ3_ENST00000361776.1_Silent_p.S268S|FOXJ3_ENST00000361346.1_Silent_p.S302S	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	302					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCTCAAAAACTGACTTATAAA	0.323																																						uc001che.2		NA																	0				ovary(2)	2						c.(904-906)TCA>TCC		forkhead box J3							145.0	153.0	151.0					1																	42660589		2203	4300	6503	SO:0001819	synonymous_variant	22887				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:42660589T>G	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.906A>C	1.37:g.42660589T>G						FOXJ3_uc001chf.2_Silent_p.S302S|FOXJ3_uc001chg.2_Silent_p.S302S|FOXJ3_uc001chh.1_Silent_p.S268S	p.S302S	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN			10	1218	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	302					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Silent	SNP	ENST00000372572.1	37	c.906A>C	CCDS30689.1																																																																																				0.323	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		47	100	0	0	0	0	47	100				
SLC35D1	23169	broad.mit.edu	37	1	67518538	67518538	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:67518538C>T	ENST00000235345.5	-	3	325	c.240G>A	c.(238-240)atG>atA	p.M80I	SLC35D1_ENST00000506472.2_Start_Codon_SNP_p.M1I	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	80					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						CTGTGGCCACCATCTGTAAAC	0.433																																						uc001ddk.2		NA																	0					0						c.(238-240)ATG>ATA		solute carrier family 35 (UDP-glucuronic	Lorazepam(DB00186)						139.0	130.0	133.0					1																	67518538		2203	4300	6503	SO:0001583	missense	23169				chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity	g.chr1:67518538C>T	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.240G>A	1.37:g.67518538C>T	ENSP00000235345:p.Met80Ile					SLC35D1_uc010oph.1_Missense_Mutation_p.M1I	p.M80I	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN			3	624	-			80			Helical; (Potential).		A8K185|B7Z3X2|Q52LU5|Q92548	Missense_Mutation	SNP	ENST00000235345.5	37	c.240G>A	CCDS636.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071107	0.93950	.	.	ENSG00000116704	ENST00000235345;ENST00000506472	T;T	0.63580	-0.05;0.14	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.67021	0.2849	M	0.79926	2.475	0.80722	D	1	D;P	0.56035	0.974;0.768	P;B	0.54100	0.742;0.298	T	0.66308	-0.5956	10	0.24483	T	0.36	-14.4804	17.1609	0.86803	0.0:1.0:0.0:0.0	.	1;80	B7Z3X2;Q9NTN3	.;S35D1_HUMAN	I	80;1	ENSP00000235345:M80I;ENSP00000445189:M1I	ENSP00000235345:M80I	M	-	3	0	SLC35D1	67291126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.390000	0.79816	2.342000	0.79632	0.561000	0.74099	ATG		0.433	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025948.1	NM_015139		25	68	0	0	0	0	25	68				
COL24A1	255631	broad.mit.edu	37	1	86200620	86200620	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:86200620T>C	ENST00000370571.2	-	59	5176	c.4810A>G	c.(4810-4812)Atg>Gtg	p.M1604V	COL24A1_ENST00000436319.1_Missense_Mutation_p.M1583V	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1604	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AGGAAGTTCATCTGGACTTTC	0.433																																						uc001dlj.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(4810-4812)ATG>GTG		collagen, type XXIV, alpha 1 precursor							72.0	69.0	70.0					1																	86200620		1891	4129	6020	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86200620T>C	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4810A>G	1.37:g.86200620T>C	ENSP00000359603:p.Met1604Val					COL24A1_uc001dli.2_Missense_Mutation_p.M719V|COL24A1_uc010osd.1_Missense_Mutation_p.M904V|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	p.M1604V	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	59	4852	-			1604			Fibrillar collagen NC1.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.4810A>G	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.106375	0.56291	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.72725	-0.68;-0.68	5.34	5.34	0.76211	Fibrillar collagen, C-terminal (4);	0.000000	0.43260	D	0.000584	T	0.81202	0.4773	M	0.80982	2.52	0.58432	D	0.999999	D;D	0.69078	0.988;0.997	P;D	0.70016	0.892;0.967	D	0.83885	0.0281	10	0.62326	D	0.03	.	15.4717	0.75443	0.0:0.0:0.0:1.0	.	1604;1583	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	V	1604;1583	ENSP00000359603:M1604V;ENSP00000392531:M1583V	ENSP00000359603:M1604V	M	-	1	0	COL24A1	85973208	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.933000	0.63484	2.232000	0.73038	0.533000	0.62120	ATG		0.433	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		16	38	0	0	0	0	16	38				
MTF2	22823	broad.mit.edu	37	1	93602558	93602558	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:93602558G>C	ENST00000370298.4	+	15	2045	c.1756G>C	c.(1756-1758)Gaa>Caa	p.E586Q	MTF2_ENST00000545708.1_Missense_Mutation_p.E484Q|MTF2_ENST00000370303.4_Missense_Mutation_p.E529Q|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000540243.1_Missense_Mutation_p.E484Q	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	586					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GTATCTTGTGGAATGGGAAGG	0.458																																						uc009wdj.2		NA																	0				ovary(2)	2						c.(1756-1758)GAA>CAA		metal response element binding transcription							92.0	90.0	91.0					1																	93602558		2203	4300	6503	SO:0001583	missense	22823					nucleus	DNA binding|zinc ion binding	g.chr1:93602558G>C	AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.1756G>C	1.37:g.93602558G>C	ENSP00000359321:p.Glu586Gln					MTF2_uc010oth.1_Missense_Mutation_p.E484Q|MTF2_uc009wdk.2_Missense_Mutation_p.E529Q|MTF2_uc001dpi.3_Missense_Mutation_p.E313Q|MTF2_uc010oti.1_Missense_Mutation_p.E484Q|MTF2_uc001dpj.3_Missense_Mutation_p.E484Q|MTF2_uc001dpl.3_Missense_Mutation_p.E484Q|MTF2_uc001dpm.3_Missense_Mutation_p.E255Q	p.E586Q	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)	15	2048	+		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)	586					A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	c.1756G>C	CCDS742.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430427	0.83776	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000370303	T;T;T;T	0.43688	0.94;0.94;1.34;1.15	5.81	4.89	0.63831	.	0.046583	0.85682	D	0.000000	T	0.49830	0.1580	L	0.49455	1.56	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.994	D;D;D	0.87578	0.998;0.991;0.987	T	0.53542	-0.8424	10	0.51188	T	0.08	-11.5544	16.1522	0.81629	0.0:0.0:0.8654:0.1346	.	529;586;484	B1AKT6;Q9Y483;B4DZG1	.;MTF2_HUMAN;.	Q	484;484;586;529	ENSP00000444962:E484Q;ENSP00000443295:E484Q;ENSP00000359321:E586Q;ENSP00000359326:E529Q	ENSP00000359321:E586Q	E	+	1	0	MTF2	93375146	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	1.431000	0.47355	0.655000	0.94253	GAA		0.458	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358		18	35	0	0	0	0	18	35				
SLC16A1	6566	broad.mit.edu	37	1	113460045	113460045	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:113460045C>T	ENST00000538576.1	-	4	1814	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	SLC16A1_ENST00000433570.4_Missense_Mutation_p.R328Q|SLC16A1_ENST00000369626.3_Missense_Mutation_p.R328Q	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	328					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	ATACTGAATTCGAGGTCTTAT	0.453																																						uc001ecx.2		NA																	0				central_nervous_system(1)	1						c.(982-984)CGA>CAA		solute carrier family 16, member 1	Pyruvic acid(DB00119)						61.0	50.0	54.0					1																	113460045		2203	4300	6503	SO:0001583	missense	6566				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr1:113460045C>T	BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.983G>A	1.37:g.113460045C>T	ENSP00000441065:p.Arg328Gln					SLC16A1_uc001ecy.2_Missense_Mutation_p.R328Q|SLC16A1_uc001ecz.2_Missense_Mutation_p.R328Q	p.R328Q	NM_003051	NP_003042	P53985	MOT1_HUMAN		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	4	1815	-	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)	328			Cytoplasmic (Potential).		Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	ENST00000538576.1	37	c.983G>A	CCDS858.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080583	0.76528	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.56	4.65	0.58169	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.053038	0.64402	D	0.000001	T	0.68137	0.2968	M	0.85630	2.765	0.42796	D	0.993912	D;D	0.71674	0.996;0.998	P;D	0.65773	0.87;0.938	T	0.74080	-0.3780	10	0.59425	D	0.04	.	10.4687	0.44624	0.0:0.8501:0.0:0.1499	.	328;328	Q49A45;P53985	.;MOT1_HUMAN	Q	328	ENSP00000358640:R328Q;ENSP00000441065:R328Q;ENSP00000416167:R328Q;ENSP00000445061:R328Q	ENSP00000358640:R328Q	R	-	2	0	SLC16A1	113261568	0.962000	0.33011	0.998000	0.56505	0.902000	0.53008	2.039000	0.41193	1.481000	0.48307	0.563000	0.77884	CGA		0.453	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051		8	24	0	0	0	0	8	24				
PIP5K1A	8394	broad.mit.edu	37	1	151206795	151206795	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:151206795G>A	ENST00000368888.4	+	8	1184	c.762G>A	c.(760-762)atG>atA	p.M254I	PIP5K1A_ENST00000409426.1_Missense_Mutation_p.M242I|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.M242I|PIP5K1A_ENST00000464105.1_3'UTR|PIP5K1A_ENST00000414290.2_5'Flank|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.M241I	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	254	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGGTAAAAATGCATATCAAAT	0.443																																					Pancreas(80;36 1443 2325 16095 21302)	uc001exj.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(760-762)ATG>ATA		phosphatidylinositol-4-phosphate 5-kinase, type							77.0	72.0	73.0					1																	151206795		2203	4300	6503	SO:0001583	missense	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151206795G>A	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.762G>A	1.37:g.151206795G>A	ENSP00000357883:p.Met254Ile					PIP5K1A_uc001exi.2_Missense_Mutation_p.M241I|PIP5K1A_uc010pcu.1_Missense_Mutation_p.M242I|PIP5K1A_uc001exk.2_Missense_Mutation_p.M241I|PIP5K1A_uc010pcv.1_Missense_Mutation_p.M11I	p.M254I	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		8	1214	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		254			PIPK.		A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	ENST00000368888.4	37	c.762G>A	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507738	0.85282	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000368888	T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67	5.18	5.18	0.71444	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.21962	0.0529	N	0.17723	0.515	0.80722	D	1	B;D;B;D	0.63046	0.094;0.983;0.166;0.992	B;P;B;P	0.61722	0.122;0.798;0.193;0.893	T	0.01287	-1.1395	10	0.06494	T	0.89	.	18.5345	0.91004	0.0:0.0:1.0:0.0	.	242;241;254;241	Q99755-4;Q99755-2;Q99755;Q99755-3	.;.;PI51A_HUMAN;.	I	241;242;242;241;254	ENSP00000271663:M241I;ENSP00000386432:M242I;ENSP00000415648:M242I;ENSP00000357885:M241I;ENSP00000357883:M254I	ENSP00000271663:M241I	M	+	3	0	PIP5K1A	149473419	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.619000	0.98369	2.721000	0.93114	0.580000	0.79431	ATG		0.443	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557		17	50	0	0	0	0	17	50				
PGLYRP4	57115	broad.mit.edu	37	1	153318647	153318647	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:153318647T>C	ENST00000359650.5	-	3	134	c.70A>G	c.(70-72)Aca>Gca	p.T24A	PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000368739.3_Missense_Mutation_p.T24A	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	24					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTAGCTTGTGTTTTGTTCCAG	0.463																																						uc001fbo.2		NA																	0				ovary(3)|skin(1)	4						c.(70-72)ACA>GCA		peptidoglycan recognition protein-I-beta							249.0	247.0	248.0					1																	153318647		2203	4300	6503	SO:0001583	missense	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153318647T>C	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.70A>G	1.37:g.153318647T>C	ENSP00000352672:p.Thr24Ala					PGLYRP4_uc001fbp.2_Missense_Mutation_p.T24A	p.T24A	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	135	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		24					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	c.70A>G	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	T	11.69	1.714345	0.30413	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.04862	3.54;3.54	3.25	-0.796	0.10912	.	0.778059	0.10519	N	0.665204	T	0.00845	0.0028	N	0.08118	0	0.09310	N	1	P;B	0.37207	0.587;0.451	B;B	0.36464	0.225;0.112	T	0.43228	-0.9404	10	0.41790	T	0.15	.	0.5918	0.00729	0.2009:0.13:0.2264:0.4426	.	24;24	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	A	24	ENSP00000357728:T24A;ENSP00000352672:T24A	ENSP00000352672:T24A	T	-	1	0	PGLYRP4	151585271	0.000000	0.05858	0.000000	0.03702	0.423000	0.31445	0.146000	0.16180	-0.163000	0.10946	0.379000	0.24179	ACA		0.463	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		100	73	0	0	0	0	100	73				
RUSC1	23623	broad.mit.edu	37	1	155290743	155290743	+	5'UTR	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:155290743C>T	ENST00000368352.5	+	0	26				RUSC1_ENST00000368347.4_5'Flank|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368354.3_5'UTR|RUSC1-AS1_ENST00000446880.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1						positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GTGGGAGCCGCGGACAAGCCC	0.731																																						uc001fki.2		NA																	0					0						c.(535-537)CCG>CCA		hypothetical protein LOC284618							21.0	26.0	24.0					1																	155290743		1871	4081	5952	SO:0001623	5_prime_UTR_variant	284618							g.chr1:155290743C>T	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.-126C>T	1.37:g.155290743C>T						RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'UTR|RUSC1_uc001fkk.2_5'UTR|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank	p.P179P	NM_001039517	NP_001034606	Q66K80	RUAS1_HUMAN	Epithelial(20;1.32e-10)|all cancers(21;3.51e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		2	814	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		179					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Silent	SNP	ENST00000368352.5	37	c.537G>A	CCDS41410.1																																																																																				0.731	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			11	16	0	0	0	0	11	16				
FCGR3A	2214	broad.mit.edu	37	1	161518311	161518311	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:161518311G>T	ENST00000436743.1	-	4	373	c.219C>A	c.(217-219)agC>agA	p.S73R	FCGR3A_ENST00000540048.1_Missense_Mutation_p.S73R|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000443193.1_Missense_Mutation_p.S108R|FCGR3A_ENST00000367969.3_Missense_Mutation_p.S109R	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	73	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAATGAAGTAGCTCGAGGCCT	0.552																																						uc001gat.3		NA																	0				ovary(1)	1						c.(217-219)AGC>AGA		Fc fragment of IgG, low affinity IIIa, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						303.0	287.0	292.0					1																	161518311		2203	4300	6503	SO:0001583	missense	2214				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161518311G>T	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.219C>A	1.37:g.161518311G>T	ENSP00000416607:p.Ser73Arg					FCGR3A_uc001gar.2_Missense_Mutation_p.S109R|FCGR3A_uc001gas.2_Missense_Mutation_p.S108R|FCGR3A_uc009wuh.2_Missense_Mutation_p.S72R|FCGR3A_uc009wui.2_Missense_Mutation_p.S73R	p.S73R	NM_001127595	NP_001121067	P08637	FCG3A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	356	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		73			Ig-like C2-type 1.|Extracellular (Potential).		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	c.219C>A	CCDS44266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.93|13.93	2.384448|2.384448	0.42308|0.42308	.|.	.|.	ENSG00000203747|ENSG00000203747	ENST00000426740|ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048;ENST00000442336	.|T;T;T;T;T;T	.|0.11821	.|2.74;2.74;2.74;2.74;2.74;2.74	4.43|4.43	3.52|3.52	0.40303|0.40303	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.842822	.|0.10498	.|N	.|0.667657	T|T	0.16214|0.16214	0.0390|0.0390	M|M	0.62154|0.62154	1.92|1.92	0.23645|0.23645	N|N	0.997212|0.997212	.|D;D;D	.|0.76494	.|0.998;0.999;0.998	.|D;P;D	.|0.66084	.|0.937;0.887;0.941	T|T	0.09729|0.09729	-1.0661|-1.0661	5|10	.|0.35671	.|T	.|0.21	.|.	8.6655|8.6655	0.34118|0.34118	0.1046:0.0:0.8954:0.0|0.1046:0.0:0.8954:0.0	.|.	.|73;108;73	.|P08637;E9PG94;Q9UPY7	.|FCG3A_HUMAN;.;.	D|R	90|109;108;73;73;73;72	.|ENSP00000356946:S109R;ENSP00000392047:S108R;ENSP00000416607:S73R;ENSP00000356944:S73R;ENSP00000444971:S73R;ENSP00000396567:S72R	.|ENSP00000356944:S73R	A|S	-|-	2|3	0|2	FCGR3A|FCGR3A	159784935|159784935	0.961000|0.961000	0.32948|0.32948	0.301000|0.301000	0.25044|0.25044	0.007000|0.007000	0.05969|0.05969	1.811000|1.811000	0.38942|0.38942	1.221000|1.221000	0.43506|0.43506	-0.216000|-0.216000	0.12614|0.12614	GCT|AGC		0.552	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		62	249	1	0	3.57e-26	1.23e-25	62	249				
ATF6	22926	broad.mit.edu	37	1	161736177	161736177	+	Silent	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:161736177C>A	ENST00000367942.3	+	1	94	c.27C>A	c.(25-27)ggC>ggA	p.G9G	RP11-474I16.8_ENST00000431097.2_RNA	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	9	Transcription activation.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	GGGTTGCCGGCACCATGGAGT	0.582																																						uc001gbr.2		NA																	0				ovary(2)|skin(1)	3						c.(25-27)GGC>GGA		activating transcription factor 6							70.0	71.0	71.0					1																	161736177		2203	4300	6503	SO:0001819	synonymous_variant	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161736177C>A	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.27C>A	1.37:g.161736177C>A						ATF6_uc001gbq.1_Silent_p.G9G	p.G9G	NM_007348	NP_031374	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		1	94	+	all_hematologic(112;0.156)		9			Cytoplasmic (Potential).|Transcription activation.		O15139|Q5VW62|Q6IPB5|Q9UEC9	Silent	SNP	ENST00000367942.3	37	c.27C>A	CCDS1235.1																																																																																				0.582	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		11	52	1	0	3.07e-06	9.09e-06	11	52				
NME7	29922	broad.mit.edu	37	1	169138773	169138773	+	Missense_Mutation	SNP	C	C	A	rs550467565	byFrequency	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:169138773C>A	ENST00000367811.3	-	11	1266	c.1010G>T	c.(1009-1011)cGc>cTc	p.R337L	NME7_ENST00000472647.1_Missense_Mutation_p.R301L	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	337					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					AGTTCCAGGGCGTAAATGCCG	0.363																																						uc001gfu.2		NA																	0				central_nervous_system(1)	1						c.(1009-1011)CGC>CTC		nucleoside diphosphate kinase 7 isoform a							157.0	165.0	163.0					1																	169138773		2203	4300	6503	SO:0001583	missense	29922				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169138773C>A	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.1010G>T	1.37:g.169138773C>A	ENSP00000356785:p.Arg337Leu					NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.R301L	p.R337L	NM_013330	NP_037462	Q9Y5B8	NDK7_HUMAN			11	1248	-	all_hematologic(923;0.208)		337					A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	c.1010G>T	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201468	0.79015	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.55234	0.53;0.53	5.48	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.56441	0.1985	L	0.56340	1.77	0.47621	D	0.999475	D	0.61080	0.989	D	0.67231	0.95	T	0.63919	-0.6528	9	0.62326	D	0.03	-8.9292	13.402	0.60889	0.0:0.923:0.0:0.0769	.	337	Q9Y5B8	NDK7_HUMAN	L	301;337	ENSP00000433341:R301L;ENSP00000356785:R337L	ENSP00000356785:R337L	R	-	2	0	NME7	167405397	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	5.527000	0.67123	1.316000	0.45131	0.655000	0.94253	CGC		0.363	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330		44	164	1	0	8e-19	2.69e-18	44	164				
RC3H1	149041	broad.mit.edu	37	1	173952661	173952661	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:173952661C>A	ENST00000367696.2	-	4	838	c.487G>T	c.(487-489)Gaa>Taa	p.E163*	RC3H1_ENST00000258349.4_Nonsense_Mutation_p.E163*|RC3H1_ENST00000367694.2_Nonsense_Mutation_p.E163*			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	163					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						ACTGTTCGTTCACCTAAAGAT	0.512																																						uc001gju.3		NA																	0				ovary(2)	2						c.(487-489)GAA>TAA		roquin							160.0	131.0	141.0					1																	173952661		2203	4300	6503	SO:0001587	stop_gained	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173952661C>A	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.487G>T	1.37:g.173952661C>A	ENSP00000356669:p.Glu163*					RC3H1_uc010pms.1_Nonsense_Mutation_p.E163*|RC3H1_uc001gjv.2_Nonsense_Mutation_p.E163*|RC3H1_uc010pmt.1_Nonsense_Mutation_p.E163*	p.E163*	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN			3	574	-			163					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Nonsense_Mutation	SNP	ENST00000367696.2	37	c.487G>T	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	C	37	6.301468	0.97453	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	.	.	.	5.29	5.29	0.74685	.	0.042462	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.3728	19.2792	0.94046	0.0:1.0:0.0:0.0	.	.	.	.	X	163	.	ENSP00000258349:E163X	E	-	1	0	RC3H1	172219284	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.445000	0.80570	2.630000	0.89119	0.557000	0.71058	GAA		0.512	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		35	40	1	0	2.42e-17	8.04e-17	35	40				
CR1	1378	broad.mit.edu	37	1	207751508	207751508	+	Silent	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:207751508C>A	ENST00000367049.4	+	29	4896	c.4896C>A	c.(4894-4896)gcC>gcA	p.A1632A	CR1_ENST00000367052.1_Silent_p.A1182A|CR1_ENST00000367051.1_Silent_p.A1182A|CR1_ENST00000400960.2_Silent_p.A1182A|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Silent_p.A1182A|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1182	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGTGCCAGGCCCTGAACAAAT	0.512																																						uc001hfy.2		NA																	0				ovary(3)	3						c.(3544-3546)GCC>GCA		complement receptor 1 isoform F precursor							71.0	73.0	72.0					1																	207751508		1913	4139	6052	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207751508C>A	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.4896C>A	1.37:g.207751508C>A						CR1_uc009xcl.1_Silent_p.A732A|CR1_uc001hfx.2_Silent_p.A1632A	p.A1182A	NM_000573	NP_000564	P17927	CR1_HUMAN			21	3686	+			1182			Extracellular (Potential).|Sushi 18.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.3546C>A	CCDS44308.1																																																																																				0.512	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		31	79	1	0	4.92e-23	1.68e-22	31	79				
PROX1	5629	broad.mit.edu	37	1	214184944	214184944	+	Nonsense_Mutation	SNP	C	C	G	rs369040874		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:214184944C>G	ENST00000366958.4	+	4	2522	c.1914C>G	c.(1912-1914)taC>taG	p.Y638*	PROX1_ENST00000498508.2_Nonsense_Mutation_p.Y638*|PROX1_ENST00000261454.4_Nonsense_Mutation_p.Y638*|PROX1_ENST00000435016.1_Nonsense_Mutation_p.Y638*	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	638	Prospero-like.				aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TGGAGAAGTACGCACGTCAAG	0.423																																						uc001hkh.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(1912-1914)TAC>TAG		prospero homeobox 1							165.0	141.0	149.0					1																	214184944		2203	4300	6503	SO:0001587	stop_gained	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214184944C>G	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1914C>G	1.37:g.214184944C>G	ENSP00000355925:p.Tyr638*						p.Y638*	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	4	2186	+			638			Prospero-like.		A6NK29|A8K2B1|Q5SW76|Q8TB91	Nonsense_Mutation	SNP	ENST00000366958.4	37	c.1914C>G	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	C	46	12.490286	0.99672	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	.	.	.	5.73	-2.66	0.06077	.	0.105492	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-4.5027	13.0646	0.59025	0.0:0.1814:0.0:0.8186	.	.	.	.	X	210;638;638;638;638	.	ENSP00000261454:Y638X	Y	+	3	2	PROX1	212251567	0.593000	0.26840	0.932000	0.37286	0.984000	0.73092	-0.187000	0.09656	-0.324000	0.08589	0.655000	0.94253	TAC		0.423	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		44	23	0	0	0	0	44	23				
RYR2	6262	broad.mit.edu	37	1	237540685	237540685	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:237540685C>G	ENST00000366574.2	+	8	843	c.526C>G	c.(526-528)Cga>Gga	p.R176G	RYR2_ENST00000360064.6_Missense_Mutation_p.R174G|RYR2_ENST00000542537.1_Missense_Mutation_p.R160G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	176	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.		R -> Q (in ARVD2 and CPVT1). {ECO:0000269|PubMed:11159936, ECO:0000269|PubMed:12106942}.		BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAAAAAGTACGAGTTGGAGA	0.443																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(526-528)CGA>GGA		cardiac muscle ryanodine receptor							138.0	135.0	136.0					1																	237540685		1957	4144	6101	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237540685C>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.526C>G	1.37:g.237540685C>G	ENSP00000355533:p.Arg176Gly						p.R176G	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		8	646	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	176		R -> Q (in ARVD2 and CPVT1).	Cytoplasmic (By similarity).|MIR 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.526C>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140979	0.56936	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98455	-4.94;-4.94;-4.94	5.17	4.26	0.50523	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.000000	0.52532	D	0.000068	D	0.98795	0.9594	M	0.86343	2.81	0.80722	D	1	D	0.69078	0.997	P	0.62014	0.897	D	0.99418	1.0932	10	0.87932	D	0	.	14.4044	0.67071	0.1491:0.8508:0.0:0.0	.	176	Q92736	RYR2_HUMAN	G	176;174;160	ENSP00000355533:R176G;ENSP00000353174:R174G;ENSP00000443798:R160G	ENSP00000353174:R174G	R	+	1	2	RYR2	235607308	0.992000	0.36948	0.197000	0.23402	0.761000	0.43186	3.024000	0.49674	1.313000	0.45069	-0.270000	0.10280	CGA		0.443	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	24	0	0	0	0	4	24				
TFB2M	64216	broad.mit.edu	37	1	246729395	246729395	+	Missense_Mutation	SNP	C	C	A	rs143392079	byFrequency	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:246729395C>A	ENST00000366514.4	-	1	231	c.46G>T	c.(46-48)Gcc>Tcc	p.A16S	TFB2M_ENST00000544618.1_Missense_Mutation_p.A16S|CNST_ENST00000366513.4_5'Flank|CNST_ENST00000366512.3_5'Flank	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	16					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			CCCGCCAAGGCGGAGAGCCTC	0.602													C|||	3	0.000599042	0.0023	0.0	5008	,	,		15753	0.0		0.0	False		,,,				2504	0.0					uc001ibn.2		NA																	0				ovary(1)	1						c.(46-48)GCC>TCC		transcription factor B2, mitochondrial		C	SER/ALA	10,4396		1,8,2194	26.0	32.0	30.0		46	0.5	0.0	1	dbSNP_134	30	1,8599		0,1,4299	yes	missense	TFB2M	NM_022366.2	99	1,9,6493	AA,AC,CC		0.0116,0.227,0.0846	benign	16/397	246729395	11,12995	2203	4300	6503	SO:0001583	missense	64216				positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	g.chr1:246729395C>A	AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.46G>T	1.37:g.246729395C>A	ENSP00000355471:p.Ala16Ser					CNST_uc001ibo.3_5'Flank|CNST_uc001ibp.2_5'Flank|TFB2M_uc010pys.1_RNA	p.A16S	NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00358)		1	171	-	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		16					Q9H626	Missense_Mutation	SNP	ENST00000366514.4	37	c.46G>T	CCDS1627.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	13.00	2.107570	0.37145	0.00227	1.16E-4	ENSG00000162851	ENST00000366514;ENST00000544618	T	0.33865	1.39	4.78	0.477	0.16784	.	1.439570	0.04621	N	0.402011	T	0.22898	0.0553	N	0.19112	0.55	0.09310	N	1	B	0.24675	0.109	B	0.24541	0.054	T	0.24512	-1.0158	10	0.45353	T	0.12	-0.5557	3.07	0.06227	0.3755:0.4135:0.0:0.211	.	16	Q9H5Q4	TFB2M_HUMAN	S	16	ENSP00000355471:A16S	ENSP00000355471:A16S	A	-	1	0	TFB2M	244796018	0.000000	0.05858	0.002000	0.10522	0.244000	0.25665	0.123000	0.15708	0.221000	0.20879	-0.475000	0.04921	GCC		0.602	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	NM_022366		21	22	1	0	1.55e-18	5.21e-18	21	22				
GATA3	2625	broad.mit.edu	37	10	8100734	8100734	+	Silent	SNP	C	C	A	rs143582578		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:8100734C>A	ENST00000346208.3	+	3	1163	c.708C>A	c.(706-708)ccC>ccA	p.P236P	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Silent_p.P236P			P23771	GATA3_HUMAN	GATA binding protein 3	236					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCTTCCCCCCCAGCAGCCTGC	0.682			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															uc001ika.2		NA		Rec	yes		10	10p15	2625	F|N|S	GATA binding protein 3	yes	HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)	E			breast		0				breast(17)|ovary(3)|central_nervous_system(2)	22	GRCh37	CD071352|CI056211	GATA3	D|I	rs143582578	c.(706-708)CCC>CCA		GATA binding protein 3 isoform 2							32.0	35.0	34.0					10																	8100734		2203	4298	6501	SO:0001819	synonymous_variant	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8100734C>A	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.708C>A	10.37:g.8100734C>A						GATA3_uc001ijz.2_Silent_p.P236P	p.P236P	NM_002051	NP_002042	P23771	GATA3_HUMAN			3	1265	+			236					Q5VWG7|Q5VWG8|Q96J16	Silent	SNP	ENST00000346208.3	37	c.708C>A	CCDS7083.1																																																																																				0.682	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295		18	25	1	0	1.02e-10	3.24e-10	18	25				
CUBN	8029	broad.mit.edu	37	10	17142173	17142173	+	Silent	SNP	A	A	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:17142173A>C	ENST00000377833.4	-	14	1661	c.1596T>G	c.(1594-1596)ctT>ctG	p.L532L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	532	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CATAAACCTGAAGAAACTCGT	0.413																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(1594-1596)CTT>CTG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						89.0	91.0	91.0					10																	17142173		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17142173A>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1596T>G	10.37:g.17142173A>C							p.L532L	NM_001081	NP_001072	O60494	CUBN_HUMAN			14	1648	-			532			CUB 1.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.1596T>G	CCDS7113.1																																																																																				0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		16	34	0	0	0	0	16	34				
A1CF	29974	broad.mit.edu	37	10	52575977	52575977	+	Silent	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:52575977A>T	ENST00000373993.1	-	7	974	c.930T>A	c.(928-930)gtT>gtA	p.V310V	A1CF_ENST00000374001.2_Silent_p.V310V|A1CF_ENST00000373997.3_Silent_p.V310V|A1CF_ENST00000395489.2_Silent_p.V303V|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Silent_p.V310V|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000395495.1_Silent_p.V255V|A1CF_ENST00000373995.3_Silent_p.V318V			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	310					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGGTATACCTAACATAACTGT	0.493																																						uc001jjj.2		NA																	0				central_nervous_system(1)	1						c.(928-930)GTT>GTA		apobec-1 complementation factor isoform 2							138.0	135.0	136.0					10																	52575977		2203	4300	6503	SO:0001819	synonymous_variant	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52575977A>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.930T>A	10.37:g.52575977A>T						A1CF_uc010qhn.1_Silent_p.V318V|A1CF_uc001jji.2_Silent_p.V310V|A1CF_uc001jjh.2_Silent_p.V318V|A1CF_uc010qho.1_Silent_p.V318V|A1CF_uc009xov.2_Silent_p.V310V	p.V310V	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN			9	1118	-			310					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Silent	SNP	ENST00000373993.1	37	c.930T>A	CCDS7242.1																																																																																				0.493	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		18	50	0	0	0	0	18	50				
TET1	80312	broad.mit.edu	37	10	70406098	70406098	+	Silent	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:70406098T>C	ENST00000373644.4	+	4	3821	c.3612T>C	c.(3610-3612)caT>caC	p.H1204H		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1204					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTTGTCCACATGATTTTCCTA	0.388																																						uc001jok.3		NA																	0				ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(3610-3612)CAT>CAC		CXXC finger 6							57.0	58.0	57.0					10																	70406098		2203	4300	6503	SO:0001819	synonymous_variant	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70406098T>C	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.3612T>C	10.37:g.70406098T>C							p.H1204H	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			4	4117	+			1204					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	c.3612T>C	CCDS7281.1																																																																																				0.388	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		17	45	0	0	0	0	17	45				
ANXA7	310	broad.mit.edu	37	10	75158106	75158106	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:75158106T>C	ENST00000372921.5	-	3	148	c.92A>G	c.(91-93)cAg>cGg	p.Q31R	ANXA7_ENST00000535178.1_5'UTR|ANXA7_ENST00000492380.1_5'UTR	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	31	Repeat-rich region.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					ATAAGGATACTGACCAGAAGG	0.468																																						uc001jtz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(91-93)CAG>CGG		annexin VII isoform 2							45.0	46.0	46.0					10																	75158106		2203	4300	6503	SO:0001583	missense	310						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding	g.chr10:75158106T>C	J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.92A>G	10.37:g.75158106T>C	ENSP00000362012:p.Gln31Arg					ANXA7_uc001jua.2_Missense_Mutation_p.Q31R|ANXA7_uc001jub.2_5'UTR|ANXA7_uc010qki.1_5'UTR|ANXA7_uc009xre.2_Intron|ANXA7_uc009xrf.1_Missense_Mutation_p.Q31R	p.Q31R	NM_004034	NP_004025	P20073	ANXA7_HUMAN			3	165	-	Prostate(51;0.0119)		31			Repeat-rich region.		Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP	ENST00000372921.5	37	c.92A>G	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	T	16.00	2.999382	0.54147	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000394847	T;T	0.02067	4.47;4.51	5.82	5.82	0.92795	.	0.420125	0.22871	N	0.054621	T	0.03477	0.0100	N	0.08118	0	0.80722	D	1	D;D;D	0.57899	0.967;0.981;0.967	D;D;D	0.70487	0.932;0.969;0.932	T	0.61792	-0.6990	10	0.06891	T	0.86	.	12.575	0.56359	0.0:0.0:0.0:1.0	.	31;31;31	B2R7L2;P20073-2;P20073	.;.;ANXA7_HUMAN	R	31	ENSP00000362012:Q31R;ENSP00000362010:Q31R	ENSP00000362010:Q31R	Q	-	2	0	ANXA7	74828112	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.549000	0.53681	2.228000	0.72767	0.533000	0.62120	CAG		0.468	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	NM_001156		11	19	0	0	0	0	11	19				
PANK1	53354	broad.mit.edu	37	10	91353635	91353635	+	Silent	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:91353635C>A	ENST00000307534.4	-	4	1577	c.1422G>T	c.(1420-1422)ctG>ctT	p.L474L	PANK1_ENST00000371774.2_Silent_p.L276L|PANK1_ENST00000322191.6_Intron|PANK1_ENST00000342512.3_Silent_p.L249L|MIR107_ENST00000362127.1_RNA	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	474					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TGTCCTTCACCAGTTTATCAA	0.448																																						uc001kgp.1		NA																	0					0						c.(1420-1422)CTG>CTT		pantothenate kinase 1 isoform alpha	Bezafibrate(DB01393)						209.0	179.0	189.0					10																	91353635		2203	4300	6503	SO:0001819	synonymous_variant	53354				coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	g.chr10:91353635C>A	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1422G>T	10.37:g.91353635C>A						PANK1_uc001kgn.1_Silent_p.L249L|PANK1_uc001kgo.1_Intron|PANK1_uc009xtu.1_Silent_p.L276L|uc001kgq.1_5'Flank|MIR107_hsa-mir-107|MI0000114_5'Flank	p.L474L	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN			4	1578	-			474					A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Silent	SNP	ENST00000307534.4	37	c.1422G>T	CCDS31244.1																																																																																				0.448	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				6	135	1	0	0.00116845	0.0032266	6	135				
NSMCE4A	54780	broad.mit.edu	37	10	123719881	123719881	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr10:123719881G>A	ENST00000369023.3	-	8	1031	c.980C>T	c.(979-981)cCa>cTa	p.P327L	NSMCE4A_ENST00000489266.1_5'UTR|NSMCE4A_ENST00000538652.1_Missense_Mutation_p.P168L	NM_001167865.1|NM_017615.2	NP_001161337.1|NP_060085.2	Q9NXX6	NSE4A_HUMAN	non-SMC element 4 homolog A (S. cerevisiae)	327					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of response to DNA damage stimulus (GO:2001022)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				ACCTATTACTGGCAGTCGGTC	0.289																																						uc001lfs.2		NA																	0					0						c.(979-981)CCA>CTA		non-SMC element 4 homolog A							63.0	61.0	62.0					10																	123719881		2203	4297	6500	SO:0001583	missense	54780							g.chr10:123719881G>A	AF258584	CCDS7624.1	10q26.13	2007-05-17	2006-11-24	2006-11-24	ENSG00000107672	ENSG00000107672			25935	protein-coding gene	gene with protein product		612987	"""chromosome 10 open reading frame 86"""	C10orf86		15752197	Standard	NM_017615		Approved	FLJ20003, bA500G22.3, NSE4A	uc001lfs.3	Q9NXX6	OTTHUMG00000019180	ENST00000369023.3:c.980C>T	10.37:g.123719881G>A	ENSP00000358019:p.Pro327Leu					NSMCE4A_uc009xzv.2_Missense_Mutation_p.P327L|NSMCE4A_uc001lft.2_Missense_Mutation_p.P168L|NSMCE4A_uc010qtu.1_Missense_Mutation_p.P168L	p.P327L	NM_017615	NP_060085	Q9NXX6	NSE4A_HUMAN			8	1010	-		all_neural(114;0.138)|Glioma(114;0.222)	327					Q5SQQ5|Q6P673|Q8WY66|Q9BS90	Missense_Mutation	SNP	ENST00000369023.3	37	c.980C>T	CCDS7624.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407681	0.83340	.	.	ENSG00000107672	ENST00000369023;ENST00000538652	T	0.57273	0.41	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.69940	0.3167	M	0.64260	1.97	0.80722	D	1	D;D	0.89917	1.0;0.972	D;D	0.97110	1.0;0.958	T	0.66654	-0.5869	10	0.37606	T	0.19	-18.9635	17.1853	0.86865	0.0:0.0:1.0:0.0	.	168;327	B4DWS2;Q9NXX6	.;NSE4A_HUMAN	L	327;168	ENSP00000358019:P327L	ENSP00000358019:P327L	P	-	2	0	NSMCE4A	123709871	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.598000	0.74122	2.745000	0.94114	0.650000	0.86243	CCA		0.289	NSMCE4A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050749.1	NM_017615		9	25	0	0	0	0	9	25				
ANO5	203859	broad.mit.edu	37	11	22296276	22296276	+	Silent	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:22296276A>T	ENST00000324559.8	+	20	2714	c.2397A>T	c.(2395-2397)cgA>cgT	p.R799R	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	799					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGGAAAAACGAGACTTCATCA	0.373																																						uc001mqi.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(2395-2397)CGA>CGT		anoctamin 5 isoform a							96.0	80.0	85.0					11																	22296276		2203	4300	6503	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22296276A>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2397A>T	11.37:g.22296276A>T						ANO5_uc001mqj.2_Silent_p.R798R	p.R799R	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			20	2714	+			799			Extracellular (Potential).			Silent	SNP	ENST00000324559.8	37	c.2397A>T	CCDS31444.1																																																																																				0.373	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		14	28	0	0	0	0	14	28				
AMBRA1	55626	broad.mit.edu	37	11	46439569	46439569	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:46439569C>A	ENST00000458649.2	-	15	3428	c.3010G>T	c.(3010-3012)Gac>Tac	p.D1004Y	AMBRA1_ENST00000533727.1_Missense_Mutation_p.D885Y|AMBRA1_ENST00000314845.3_Missense_Mutation_p.D914Y|AMBRA1_ENST00000426438.1_Missense_Mutation_p.D975Y|AMBRA1_ENST00000534300.1_Missense_Mutation_p.D944Y|AMBRA1_ENST00000528950.1_Missense_Mutation_p.D975Y|AMBRA1_ENST00000298834.3_Missense_Mutation_p.D944Y			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1004					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTCCGCTGGTCGGCAGGCATG	0.488																																						uc010rgu.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(3010-3012)GAC>TAC		activating molecule in beclin-1-regulated							82.0	79.0	80.0					11																	46439569		2201	4299	6500	SO:0001583	missense	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46439569C>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3010G>T	11.37:g.46439569C>A	ENSP00000415327:p.Asp1004Tyr					AMBRA1_uc010rgt.1_Missense_Mutation_p.D570Y|AMBRA1_uc009ylc.1_Missense_Mutation_p.D975Y|AMBRA1_uc001ncu.1_Missense_Mutation_p.D914Y|AMBRA1_uc001ncv.2_Missense_Mutation_p.D1007Y|AMBRA1_uc001ncw.2_Missense_Mutation_p.D885Y|AMBRA1_uc001ncx.2_Missense_Mutation_p.D944Y	p.D1004Y	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	15	3370	-			1004					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37	c.3010G>T		.	.	.	.	.	.	.	.	.	.	C	28.1	4.891551	0.91889	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.72725	-0.55;-0.68;-0.27;-0.4;-0.27;-0.41;-0.4	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80602	0.4654	L	0.39898	1.24	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;1.0;1.0;0.999;0.999;0.999	T	0.81486	-0.0911	10	0.87932	D	0	.	19.9478	0.97189	0.0:1.0:0.0:0.0	.	1004;975;944;885;1007;914	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	Y	914;885;944;975;944;1004;975	ENSP00000318313:D914Y;ENSP00000433372:D885Y;ENSP00000431926:D944Y;ENSP00000410899:D975Y;ENSP00000298834:D944Y;ENSP00000415327:D1004Y;ENSP00000433945:D975Y	ENSP00000298834:D944Y	D	-	1	0	AMBRA1	46396145	1.000000	0.71417	0.991000	0.47740	0.906000	0.53458	7.786000	0.85741	2.712000	0.92718	0.591000	0.81541	GAC		0.488	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		21	44	1	0	3.6e-14	1.18e-13	21	44				
C11orf30	56946	broad.mit.edu	37	11	76253279	76253279	+	Silent	SNP	C	C	T	rs537717659	byFrequency	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:76253279C>T	ENST00000529032.1	+	17	2577	c.2577C>T	c.(2575-2577)ccC>ccT	p.P859P	C11orf30_ENST00000524767.1_Silent_p.P874P|C11orf30_ENST00000524490.1_Silent_p.P761P|C11orf30_ENST00000525038.1_Silent_p.P860P|C11orf30_ENST00000533248.1_Silent_p.P768P|C11orf30_ENST00000334736.3_Silent_p.P859P|C11orf30_ENST00000343878.3_Silent_p.P859P|C11orf30_ENST00000525919.1_Silent_p.P860P			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	859					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCTCCCAGCCCCAACAGCCTT	0.517																																						uc001oxl.2		NA																	0				ovary(5)|skin(1)	6						c.(2575-2577)CCC>CCT		EMSY protein							160.0	164.0	163.0					11																	76253279		2200	4292	6492	SO:0001819	synonymous_variant	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76253279C>T	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.2577C>T	11.37:g.76253279C>T						C11orf30_uc001oxm.2_Silent_p.P761P|C11orf30_uc010rsb.1_Silent_p.P874P|C11orf30_uc010rsc.1_Silent_p.P860P|C11orf30_uc001oxn.2_Silent_p.P860P|C11orf30_uc010rsd.1_Silent_p.P768P|C11orf30_uc001oxo.1_Silent_p.P213P|C11orf30_uc010rse.1_Silent_p.P106P|C11orf30_uc001oxp.2_5'UTR	p.P859P	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			18	2720	+			859					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	ENST00000529032.1	37	c.2577C>T	CCDS8244.1																																																																																				0.517	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		92	85	0	0	0	0	92	85				
GRM5	2915	broad.mit.edu	37	11	88386529	88386529	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:88386529C>A	ENST00000305447.4	-	3	1103	c.954G>T	c.(952-954)caG>caT	p.Q318H	GRM5_ENST00000305432.5_Missense_Mutation_p.Q318H|GRM5_ENST00000393297.1_Missense_Mutation_p.Q318H|GRM5_ENST00000418177.2_Missense_Mutation_p.Q318H|GRM5_ENST00000455756.2_Missense_Mutation_p.Q318H	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	318					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CAGCTTCTCGCTGATATCCAT	0.453																																						uc001pcq.2		NA																	0				central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(952-954)CAG>CAT		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						94.0	93.0	93.0					11																	88386529		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88386529C>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.954G>T	11.37:g.88386529C>A	ENSP00000306138:p.Gln318His					GRM5_uc009yvm.2_Missense_Mutation_p.Q318H	p.Q318H	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			3	1154	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	318			Extracellular (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.954G>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978318	0.74360	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65	5.88	4.0	0.46444	Extracellular ligand-binding receptor (1);	0.233701	0.43416	D	0.000564	D	0.84474	0.5480	L	0.38838	1.175	0.42957	D	0.994399	D;D	0.61080	0.969;0.989	P;D	0.63113	0.655;0.911	D	0.83615	0.0136	9	.	.	.	.	13.1425	0.59442	0.0:0.8684:0.0:0.1316	.	318;318	P41594-2;P41594	.;GRM5_HUMAN	H	318	ENSP00000402912:Q318H;ENSP00000405690:Q318H;ENSP00000305905:Q318H;ENSP00000306138:Q318H;ENSP00000376975:Q318H	.	Q	-	3	2	GRM5	88026177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.910000	0.28571	1.495000	0.48549	0.591000	0.81541	CAG		0.453	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		17	79	1	0	1.68e-08	5.2e-08	17	79				
MTMR2	8898	broad.mit.edu	37	11	95580901	95580901	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:95580901T>C	ENST00000346299.5	-	10	1496	c.1156A>G	c.(1156-1158)Act>Gct	p.T386A	MTMR2_ENST00000484818.1_5'Flank|MTMR2_ENST00000352297.7_Missense_Mutation_p.T314A|MTMR2_ENST00000409459.1_Missense_Mutation_p.T314A|MTMR2_ENST00000393223.3_Missense_Mutation_p.T314A	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	386	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCCAATGAGTAGATTCCAAG	0.358																																						uc001pfu.2		NA																	0				pancreas(1)	1						c.(1156-1158)ACT>GCT		myotubularin-related protein 2 isoform 1							121.0	124.0	123.0					11																	95580901		2201	4298	6499	SO:0001583	missense	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95580901T>C	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.1156A>G	11.37:g.95580901T>C	ENSP00000345752:p.Thr386Ala					MTMR2_uc001pfv.2_Missense_Mutation_p.T314A|MTMR2_uc001pfs.2_Missense_Mutation_p.T314A|MTMR2_uc001pft.2_Missense_Mutation_p.T314A|MTMR2_uc010ruj.1_Missense_Mutation_p.T369A	p.T386A	NM_016156	NP_057240	Q13614	MTMR2_HUMAN			10	1409	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	386			Myotubularin phosphatase.		A6NN98|Q9UPS9	Missense_Mutation	SNP	ENST00000346299.5	37	c.1156A>G	CCDS8305.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.789615	0.90367	.	.	ENSG00000087053	ENST00000346299;ENST00000393223;ENST00000409459;ENST00000352297;ENST00000444541	D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2	5.84	5.84	0.93424	Myotubularin phosphatase domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.043149	0.85682	D	0.000000	D	0.97151	0.9069	M	0.91354	3.2	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.64776	0.929;0.929	D	0.97755	1.0217	10	0.62326	D	0.03	.	16.2167	0.82231	0.0:0.0:0.0:1.0	.	386;386	A8K5G2;Q13614	.;MTMR2_HUMAN	A	386;314;314;314;314	ENSP00000345752:T386A;ENSP00000376915:T314A;ENSP00000386882:T314A;ENSP00000343737:T314A;ENSP00000396020:T314A	ENSP00000345752:T386A	T	-	1	0	MTMR2	95220549	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.975000	0.88055	2.231000	0.72958	0.533000	0.62120	ACT		0.358	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156		22	65	0	0	0	0	22	65				
SIDT2	51092	broad.mit.edu	37	11	117052527	117052527	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:117052527C>G	ENST00000324225.4	+	3	841	c.310C>G	c.(310-312)Cag>Gag	p.Q104E	SIDT2_ENST00000431081.2_Missense_Mutation_p.Q104E|SIDT2_ENST00000530948.1_3'UTR	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	104					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CCATAGGTTTCAGCGCAAGTA	0.592											OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pqh.1		NA																	0					0						c.(310-312)CAG>GAG		SID1 transmembrane family, member 2 precursor							85.0	84.0	85.0					11																	117052527		2201	4296	6497	SO:0001583	missense	51092					integral to membrane|lysosomal membrane		g.chr11:117052527C>G	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.310C>G	11.37:g.117052527C>G	ENSP00000314023:p.Gln104Glu		OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1478	SIDT2_uc010rxe.1_Missense_Mutation_p.Q104E|SIDT2_uc001pqg.2_Missense_Mutation_p.Q104E|SIDT2_uc001pqi.1_Missense_Mutation_p.Q104E	p.Q104E	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	3	351	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	104			Extracellular (Potential).		Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	c.310C>G	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763533	0.89932	.	.	ENSG00000149577	ENST00000324225;ENST00000532960;ENST00000525347;ENST00000278951;ENST00000431081;ENST00000531353	T;T;T;T	0.54866	2.3;0.55;2.27;2.3	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.66297	0.2775	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.69078	0.997;0.99;0.995;0.995	D;D;D;D	0.72982	0.971;0.979;0.935;0.935	T	0.60321	-0.7286	10	0.05620	T	0.96	-20.5757	18.7974	0.92001	0.0:1.0:0.0:0.0	.	104;104;104;104	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	E	104;104;104;104;104;3	ENSP00000314023:Q104E;ENSP00000431176:Q104E;ENSP00000278951:Q104E;ENSP00000399635:Q104E	ENSP00000278951:Q104E	Q	+	1	0	SIDT2	116557737	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	6.828000	0.75308	2.676000	0.91093	0.561000	0.74099	CAG		0.592	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		24	46	0	0	0	0	24	46				
SORL1	6653	broad.mit.edu	37	11	121454271	121454271	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:121454271G>T	ENST00000260197.7	+	26	3814	c.3685G>T	c.(3685-3687)Gat>Tat	p.D1229Y	SORL1_ENST00000532694.1_Missense_Mutation_p.D75Y|SORL1_ENST00000525532.1_Missense_Mutation_p.D173Y|SORL1_ENST00000534286.1_Missense_Mutation_p.D139Y	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1229	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGATGGTTCCGATGAGGATCC	0.597																																						uc001pxx.2		NA																	0				ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(3685-3687)GAT>TAT		sortilin-related receptor containing LDLR class							121.0	86.0	98.0					11																	121454271		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121454271G>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3685G>T	11.37:g.121454271G>T	ENSP00000260197:p.Asp1229Tyr					SORL1_uc010rzp.1_Missense_Mutation_p.D75Y	p.D1229Y	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	26	3765	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1229			Extracellular (Potential).|LDL-receptor class A 4.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.3685G>T	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061419	0.93846	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286	D;D;D;D	0.99232	-5.6;-5.6;-5.6;-5.6	5.91	5.91	0.95273	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.046498	0.85682	D	0.000000	D	0.99667	0.9876	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97791	1.0238	10	0.87932	D	0	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1229	Q92673	SORL_HUMAN	Y	1229;173;75;139	ENSP00000260197:D1229Y;ENSP00000434634:D173Y;ENSP00000432131:D75Y;ENSP00000436447:D139Y	ENSP00000260197:D1229Y	D	+	1	0	SORL1	120959481	1.000000	0.71417	0.862000	0.33874	0.934000	0.57294	9.443000	0.97568	2.793000	0.96121	0.655000	0.94253	GAT		0.597	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		27	28	1	0	6.13e-19	2.07e-18	27	28				
IQSEC3	440073	broad.mit.edu	37	12	266231	266231	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:266231G>A	ENST00000538872.1	+	6	2312	c.2194G>A	c.(2194-2196)Gac>Aac	p.D732N	IQSEC3_ENST00000326261.4_Missense_Mutation_p.D732N|IQSEC3_ENST00000382841.2_Missense_Mutation_p.D429N			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	732	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CATGGAGCTGGACGAGGCCCT	0.637																																						uc001qhw.1		NA																	0				central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(1285-1287)GAC>AAC		IQ motif and Sec7 domain 3							46.0	37.0	40.0					12																	266231		2203	4300	6503	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:266231G>A	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2194G>A	12.37:g.266231G>A	ENSP00000437554:p.Asp732Asn					IQSEC3_uc001qhu.1_Missense_Mutation_p.D429N	p.D429N	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	3	1291	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		732			SEC7.		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.1285G>A	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106004	0.94292	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.79554	-1.28;-1.28;-1.28	3.7	3.7	0.42460	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.095256	0.64402	D	0.000001	D	0.93612	0.7960	H	0.98314	4.2	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	D	0.96362	0.9267	10	0.87932	D	0	.	15.8141	0.78586	0.0:0.0:1.0:0.0	.	732;429	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	N	732;732;429	ENSP00000437554:D732N;ENSP00000315662:D732N;ENSP00000372292:D429N	ENSP00000315662:D732N	D	+	1	0	IQSEC3	136492	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.684000	0.98659	1.804000	0.52760	0.313000	0.20887	GAC		0.637	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		6	11	0	0	0	0	6	11				
C1S	716	broad.mit.edu	37	12	7175808	7175808	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:7175808G>A	ENST00000406697.1	+	14	1872	c.1244G>A	c.(1243-1245)gGc>gAc	p.G415D	C1S_ENST00000495061.1_3'UTR|C1S_ENST00000402681.3_Missense_Mutation_p.G248D|C1S_ENST00000360817.5_Missense_Mutation_p.G415D|C1S_ENST00000328916.3_Missense_Mutation_p.G415D			P09871	C1S_HUMAN	complement component 1, s subcomponent	415	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GAGGTGCTGGGCCCGGAGCTG	0.547																																					GBM(156;750 1943 12971 24779 31015)	uc001qsj.2		NA																	0				skin(1)	1						c.(1243-1245)GGC>GAC		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						236.0	185.0	202.0					12																	7175808		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7175808G>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1244G>A	12.37:g.7175808G>A	ENSP00000385035:p.Gly415Asp					C1S_uc001qsk.2_Missense_Mutation_p.G415D|C1S_uc001qsl.2_Missense_Mutation_p.G415D|C1S_uc009zfr.2_Missense_Mutation_p.G248D|C1S_uc009zfs.2_RNA	p.G415D	NM_201442	NP_958850	P09871	C1S_HUMAN			14	1963	+			415			Sushi 2.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.1244G>A	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.891923	0.52014	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.4	5.4	0.78164	Complement control module (2);Sushi/SCR/CCP (2);	0.163511	0.29321	N	0.012495	T	0.54647	0.1871	M	0.84683	2.71	0.36755	D	0.882996	P	0.38195	0.622	B	0.39299	0.296	T	0.68179	-0.5477	10	0.62326	D	0.03	.	11.7904	0.52065	0.0808:0.0:0.9192:0.0	.	415	P09871	C1S_HUMAN	D	415;415;415;409;248	ENSP00000385035:G415D;ENSP00000328173:G415D;ENSP00000354057:G415D;ENSP00000384171:G248D	ENSP00000328173:G415D	G	+	2	0	C1S	7046069	1.000000	0.71417	0.988000	0.46212	0.094000	0.18550	4.653000	0.61462	2.531000	0.85337	0.462000	0.41574	GGC		0.547	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734		74	76	0	0	0	0	74	76				
SLC2A3	6515	broad.mit.edu	37	12	8083916	8083916	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:8083916G>A	ENST00000075120.7	-	4	675	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	145					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CAGTAGGCGAGATCTCTCCAA	0.517																																					Colon(96;424 1461 14416 20933 23688)	uc001qtr.2		NA																	0				ovary(3)|pancreas(1)	4						c.(433-435)ATC>ATT		solute carrier family 2 (facilitated glucose							92.0	86.0	88.0					12																	8083916		2203	4300	6503	SO:0001819	synonymous_variant	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8083916G>A	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.435C>T	12.37:g.8083916G>A						SLC2A3_uc001qts.2_Silent_p.I145I	p.I145I	NM_006931	NP_008862	P11169	GTR3_HUMAN		Kidney(36;0.0866)	4	697	-			145			Helical; Name=4; (Potential).		B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	37	c.435C>T	CCDS8586.1																																																																																				0.517	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		38	47	0	0	0	0	38	47				
SLCO1B1	10599	broad.mit.edu	37	12	21377659	21377659	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:21377659G>A	ENST00000256958.2	+	14	1847	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	584					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	ATTACAGGAGGAATTCTAGCT	0.353																																						uc001req.3		NA																	0		p.G584G(1)		ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(1750-1752)GGA>GAA		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						143.0	136.0	138.0					12																	21377659		2203	4300	6503	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21377659G>A		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1751G>A	12.37:g.21377659G>A	ENSP00000256958:p.Gly584Glu						p.G584E	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			14	1855	+			584			Helical; Name=11; (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.1751G>A	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243788	0.39697	.	.	ENSG00000134538	ENST00000256958	T	0.63417	-0.04	3.66	3.66	0.41972	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.104168	0.64402	D	0.000004	T	0.81517	0.4839	M	0.91972	3.26	0.42482	D	0.992862	D	0.89917	1.0	D	0.81914	0.995	D	0.85916	0.1443	10	0.87932	D	0	.	12.3674	0.55236	0.0:0.0:1.0:0.0	.	584	Q9Y6L6	SO1B1_HUMAN	E	584	ENSP00000256958:G584E	ENSP00000256958:G584E	G	+	2	0	SLCO1B1	21268926	1.000000	0.71417	1.000000	0.80357	0.439000	0.31926	5.106000	0.64597	1.866000	0.54105	0.467000	0.42956	GGA		0.353	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		44	64	0	0	0	0	44	64				
HDAC7	51564	broad.mit.edu	37	12	48191248	48191248	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:48191248G>A	ENST00000427332.2	-	6	535	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	HDAC7_ENST00000354334.3_Missense_Mutation_p.R166C|HDAC7_ENST00000552960.1_Missense_Mutation_p.R149C|HDAC7_ENST00000380610.4_Missense_Mutation_p.R183C|HDAC7_ENST00000080059.7_Missense_Mutation_p.R166C			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	127	Interaction with MEF2A. {ECO:0000250}.|Transcription repression 1. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		AGCATGGAGCGGGTGGCTCCT	0.622																																						uc009zkv.1		NA																	0				lung(1)|breast(1)	2						c.(379-381)CGC>TGC		Synthetic construct DNA, clone: pF1KB0470, Homo sapiens HDAC7 gene for histone deacetylase 7, without stop codon, in Flexi system.							103.0	95.0	98.0					12																	48191248		2203	4300	6503	SO:0001583	missense	51564				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr12:48191248G>A	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.379C>T	12.37:g.48191248G>A	ENSP00000404394:p.Arg127Cys					HDAC7_uc010slo.1_Missense_Mutation_p.R166C|HDAC7_uc001rqj.3_Missense_Mutation_p.R166C|HDAC7_uc001rqk.3_Missense_Mutation_p.R149C	p.R127C			Q8WUI4	HDAC7_HUMAN		GBM - Glioblastoma multiforme(48;0.137)	4	594	-			127			Interaction with MEF2A (By similarity).|Transcription repression 1 (By similarity).		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	37	c.379C>T		.	.	.	.	.	.	.	.	.	.	G	19.98	3.927872	0.73327	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332;ENST00000447463;ENST00000434070;ENST00000421231	T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	4.84	3.0	0.34707	.	0.183953	0.47455	N	0.000230	T	0.22085	0.0532	N	0.14661	0.345	0.36626	D	0.876013	D;D;D	0.71674	0.998;0.992;0.997	P;P;P	0.53146	0.719;0.613;0.648	T	0.13255	-1.0516	10	0.42905	T	0.14	.	10.1675	0.42888	0.1653:0.0:0.8347:0.0	.	166;149;166	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	C	166;166;149;183;127;127;127;127	ENSP00000080059:R166C;ENSP00000351326:R166C;ENSP00000448532:R149C;ENSP00000369984:R183C;ENSP00000404394:R127C;ENSP00000389501:R127C;ENSP00000388561:R127C;ENSP00000412155:R127C	ENSP00000080059:R166C	R	-	1	0	HDAC7	46477515	1.000000	0.71417	0.836000	0.33094	0.892000	0.51952	1.378000	0.34328	0.760000	0.33108	-0.150000	0.13652	CGC		0.622	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			24	50	0	0	0	0	24	50				
AQP6	363	broad.mit.edu	37	12	50368216	50368216	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:50368216C>T	ENST00000315520.5	+	2	849	c.512C>T	c.(511-513)tCc>tTc	p.S171F	AQP6_ENST00000551733.1_5'UTR	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	171					anion transport (GO:0006820)|excretion (GO:0007588)|odontogenesis (GO:0042476)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	integral component of plasma membrane (GO:0005887)|transport vesicle membrane (GO:0030658)	anion channel activity (GO:0005253)|water channel activity (GO:0015250)			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						ACATCAGGCTCCCCGGCCACC	0.627											OREG0021809	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rvr.1		NA																	0					0						c.(511-513)TCC>TTC		aquaporin 6							77.0	63.0	68.0					12																	50368216		2203	4300	6503	SO:0001583	missense	363				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity	g.chr12:50368216C>T	AL137716	CCDS31798.1	12q13	2005-09-20			ENSG00000086159	ENSG00000086159		"""Ion channels / Aquaporins"""	639	protein-coding gene	gene with protein product		601383		AQP2L		8812490	Standard	XM_006719375		Approved		uc001rvr.1	Q13520	OTTHUMG00000133548	ENST00000315520.5:c.512C>T	12.37:g.50368216C>T	ENSP00000320247:p.Ser171Phe		OREG0021809	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	969	AQP6_uc001rvp.1_5'UTR|AQP6_uc001rvq.1_RNA	p.S171F	NM_001652	NP_001643	Q13520	AQP6_HUMAN			2	849	+			171			Helical; (Potential).			Missense_Mutation	SNP	ENST00000315520.5	37	c.512C>T	CCDS31798.1	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587956	0.66105	.	.	ENSG00000086159	ENST00000315520	D	0.88277	-2.36	4.33	4.33	0.51752	Aquaporin-like (2);	0.000000	0.50627	D	0.000106	D	0.90933	0.7150	L	0.37466	1.105	0.58432	D	0.999998	D	0.89917	1.0	D	0.78314	0.991	D	0.91307	0.5071	10	0.56958	D	0.05	-1.9206	14.2318	0.65898	0.0:1.0:0.0:0.0	.	171	Q13520	AQP6_HUMAN	F	171	ENSP00000320247:S171F	ENSP00000320247:S171F	S	+	2	0	AQP6	48654483	0.532000	0.26346	0.530000	0.27963	0.550000	0.35303	3.134000	0.50538	2.422000	0.82143	0.491000	0.48974	TCC		0.627	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257528.2	NM_001652, NM_053286		19	36	0	0	0	0	19	36				
STAT2	6773	broad.mit.edu	37	12	56740685	56740685	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:56740685G>A	ENST00000314128.4	-	20	1802	c.1779C>T	c.(1777-1779)acC>acT	p.T593T	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Silent_p.T589T			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	593	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGCCAGACATGGTCTTCTTCA	0.602																																						uc001slc.2		NA																	0				ovary(1)|lung(1)|kidney(1)	3						c.(1777-1779)ACC>ACT		signal transducer and activator of transcription							100.0	79.0	86.0					12																	56740685		2203	4300	6503	SO:0001819	synonymous_variant	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56740685G>A	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1779C>T	12.37:g.56740685G>A						STAT2_uc001slb.2_Silent_p.T135T|STAT2_uc001sld.2_Silent_p.T589T	p.T593T	NM_005419	NP_005410	P52630	STAT2_HUMAN			20	1857	-			593			SH2.		B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	ENST00000314128.4	37	c.1779C>T	CCDS8917.1																																																																																				0.602	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		50	57	0	0	0	0	50	57				
ARHGAP9	64333	broad.mit.edu	37	12	57868454	57868454	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:57868454C>A	ENST00000356411.2	-	14	1879	c.1741G>T	c.(1741-1743)Ggg>Tgg	p.G581W	ARHGAP9_ENST00000430041.2_Missense_Mutation_p.G378W|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.G652W|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.G562W|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.G562W|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.G641W			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	581	Lipid binding.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GCCAAGTTCCCGCTCACCCGA	0.507																																						uc001sod.2		NA																	0				lung(1)	1						c.(1954-1956)GGG>TGG		Rho GTPase activating protein 9 isoform 1							114.0	111.0	112.0					12																	57868454		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57868454C>A	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1741G>T	12.37:g.57868454C>A	ENSP00000348782:p.Gly581Trp					ARHGAP9_uc001sny.2_RNA|ARHGAP9_uc001snz.2_Missense_Mutation_p.G378W|ARHGAP9_uc001soa.2_Missense_Mutation_p.G251W|ARHGAP9_uc001sob.2_Missense_Mutation_p.G562W|ARHGAP9_uc001soc.2_Missense_Mutation_p.G562W|ARHGAP9_uc001soe.1_Missense_Mutation_p.G641W	p.G652W	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		17	2147	-			581			Rho-GAP.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.1954G>T		.	.	.	.	.	.	.	.	.	.	C	28.3	4.909667	0.92107	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000550130	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	5.6	5.6	0.85130	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	H	0.95917	3.74	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999	T	0.79057	-0.1959	10	0.87932	D	0	.	16.9163	0.86153	0.0:1.0:0.0:0.0	.	641;581;562;562;378	Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;RHG09_HUMAN;.;.;.	W	562;581;232;562;652;611;378;69	ENSP00000377380:G562W;ENSP00000348782:G581W;ENSP00000394307:G562W;ENSP00000377386:G652W;ENSP00000397950:G378W;ENSP00000448423:G69W	ENSP00000344852:G611W	G	-	1	0	ARHGAP9	56154721	1.000000	0.71417	0.978000	0.43139	0.989000	0.77384	6.605000	0.74155	2.822000	0.97130	0.650000	0.86243	GGG		0.507	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		5	109	1	0	0.00116845	0.0032266	5	109				
PPP1R12A	4659	broad.mit.edu	37	12	80211242	80211242	+	Missense_Mutation	SNP	C	C	T	rs551709799	byFrequency	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:80211242C>T	ENST00000450142.2	-	9	1437	c.1171G>A	c.(1171-1173)Gct>Act	p.A391T	PPP1R12A_ENST00000261207.5_Missense_Mutation_p.A391T|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.A391T|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.A304T|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.A391T	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	391					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GCTACAGGAGCTGCTTGTGTA	0.358													C|||	2	0.000399361	0.0	0.0	5008	,	,		15704	0.0		0.0	False		,,,				2504	0.002					uc001syz.2		NA																	0				ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(1171-1173)GCT>ACT		protein phosphatase 1, regulatory (inhibitor)							112.0	111.0	111.0					12																	80211242		1863	4107	5970	SO:0001583	missense	4659					contractile fiber	protein binding|signal transducer activity	g.chr12:80211242C>T	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1171G>A	12.37:g.80211242C>T	ENSP00000389168:p.Ala391Thr					PPP1R12A_uc010suc.1_Missense_Mutation_p.A304T|PPP1R12A_uc001sza.2_Missense_Mutation_p.A391T|PPP1R12A_uc010sud.1_Missense_Mutation_p.A391T|PPP1R12A_uc001szb.2_Missense_Mutation_p.A391T|PPP1R12A_uc001szc.2_Missense_Mutation_p.A391T	p.A391T	NM_002480	NP_002471	O14974	MYPT1_HUMAN			9	1438	-			391					B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	c.1171G>A	CCDS44947.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228848	0.58777	.	.	ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330;ENST00000547131	T;T;T;T;T;T;T	0.44083	1.32;1.32;1.33;1.35;1.31;1.3;0.93	5.83	4.94	0.65067	.	0.293490	0.38111	N	0.001816	T	0.32526	0.0832	L	0.38531	1.155	0.44956	D	0.997972	B;P;B;P	0.51057	0.001;0.879;0.001;0.941	B;B;B;B	0.43658	0.002;0.396;0.003;0.426	T	0.06127	-1.0844	10	0.13108	T	0.6	.	11.1137	0.48247	0.0:0.8593:0.0:0.1407	.	391;391;391;391	F8W8Q6;O14974-2;O14974-3;O14974	.;.;.;MYPT1_HUMAN	T	391;391;391;391;391;391;391;304;391;391;86	ENSP00000261207:A391T;ENSP00000389168:A391T;ENSP00000416769:A391T;ENSP00000449514:A304T;ENSP00000446855:A391T;ENSP00000446816:A391T;ENSP00000450061:A86T	ENSP00000261207:A391T	A	-	1	0	PPP1R12A	78735373	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.579000	0.36536	1.487000	0.48415	0.585000	0.79938	GCT		0.358	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480		6	21	0	0	0	0	6	21				
WSCD2	9671	broad.mit.edu	37	12	108589613	108589613	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:108589613G>T	ENST00000332082.4	+	3	822	c.4G>T	c.(4-6)Gcc>Tcc	p.A2S	WSCD2_ENST00000549903.1_Missense_Mutation_p.A2S|WSCD2_ENST00000547525.1_Missense_Mutation_p.A2S|WSCD2_ENST00000261400.3_Missense_Mutation_p.A2S			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	2						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TCCCACTATGGCCAAGCTCTG	0.562																																						uc001tms.2		NA																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(4-6)GCC>TCC		WSC domain containing 2							44.0	45.0	45.0					12																	108589613		1928	4124	6052	SO:0001583	missense	9671					integral to membrane		g.chr12:108589613G>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.4G>T	12.37:g.108589613G>T	ENSP00000331933:p.Ala2Ser					WSCD2_uc001tmt.2_Missense_Mutation_p.A2S	p.A2S	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			2	748	+			2					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.4G>T	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	35	5.436267	0.96168	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.50277	0.81;0.75;0.81;0.75	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.69522	0.3120	M	0.70275	2.135	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.71351	-0.4619	10	0.87932	D	0	-34.127	18.8897	0.92395	0.0:0.0:1.0:0.0	.	2	Q2TBF2	WSCD2_HUMAN	S	2	ENSP00000448047:A2S;ENSP00000261400:A2S;ENSP00000331933:A2S;ENSP00000447272:A2S	ENSP00000261400:A2S	A	+	1	0	WSCD2	107113743	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.317000	0.96327	2.704000	0.92352	0.655000	0.94253	GCC		0.562	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		13	40	1	0	0.00136819	0.00376911	13	40				
DYNLL1	8655	broad.mit.edu	37	12	120934324	120934324	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:120934324A>G	ENST00000392509.2	+	2	361	c.100A>G	c.(100-102)Ata>Gta	p.I34V	DYNLL1_ENST00000552870.1_Missense_Mutation_p.I34V|DYNLL1_ENST00000549989.1_Missense_Mutation_p.I34V|DYNLL1_ENST00000392508.2_Missense_Mutation_p.I34V|DYNLL1_ENST00000548342.1_Missense_Mutation_p.I34V|DYNLL1_ENST00000550845.1_Missense_Mutation_p.I34V|DYNLL1_ENST00000550178.1_Missense_Mutation_p.I34V|DYNLL1-AS1_ENST00000500741.2_RNA|DYNLL1_ENST00000242577.6_Missense_Mutation_p.I34V|DYNLL1_ENST00000548214.1_Missense_Mutation_p.I34V	NM_001037494.1	NP_001032583.1	P63167	DYL1_HUMAN	dynein, light chain, LC8-type 1	34					actin cytoskeleton organization (GO:0030036)|anatomical structure morphogenesis (GO:0009653)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic process (GO:0006915)|female gamete generation (GO:0007292)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	motor activity (GO:0003774)|nitric-oxide synthase regulator activity (GO:0030235)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAAATACAACATAGAGAAGGA	0.577																																						uc001tyj.2		NA																	0					0						c.(100-102)ATA>GTA		dynein light chain 1							105.0	105.0	105.0					12																	120934324		2203	4300	6503	SO:0001583	missense	8655				actin cytoskeleton organization|activation of pro-apoptotic gene products|anatomical structure morphogenesis|female gamete generation|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|microtubule-based process|negative regulation of phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	centrosome|cytoplasmic dynein complex|cytosol|microtubule|mitochondrion|nucleus|plasma membrane	motor activity|protein binding	g.chr12:120934324A>G	U32944	CCDS9200.1	12q24.23	2013-05-30	2005-11-25	2005-11-25	ENSG00000088986	ENSG00000088986		"""Cytoplasmic dyneins"""	15476	protein-coding gene	gene with protein product		601562	"""dynein, cytoplasmic, light polypeptide 1"""	DNCL1		8628263, 8864115, 16260502	Standard	NM_001037494		Approved	hdlc1, DLC1, PIN, LC8, DLC8	uc001tym.3	P63167	OTTHUMG00000169368	ENST00000392509.2:c.100A>G	12.37:g.120934324A>G	ENSP00000376297:p.Ile34Val					uc001tyk.1_5'Flank|DYNLL1_uc001tyl.2_Missense_Mutation_p.I34V|DYNLL1_uc001tym.2_Missense_Mutation_p.I34V	p.I34V	NM_001037494	NP_001032583	P63167	DYL1_HUMAN			2	354	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		34					Q15701	Missense_Mutation	SNP	ENST00000392509.2	37	c.100A>G	CCDS9200.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.541349	0.45280	.	.	ENSG00000088986	ENST00000392509;ENST00000549649;ENST00000548342;ENST00000242577;ENST00000548214;ENST00000392508;ENST00000550178;ENST00000550845;ENST00000549989;ENST00000552870	.	.	.	5.14	5.14	0.70334	.	0.138852	0.64402	D	0.000007	T	0.41373	0.1156	.	.	.	0.58432	D	0.99999	B	0.02656	0.0	B	0.12837	0.008	T	0.28902	-1.0029	8	0.11182	T	0.66	.	15.3138	0.74056	1.0:0.0:0.0:0.0	.	34	P63167	DYL1_HUMAN	V	34	.	ENSP00000242577:I34V	I	+	1	0	DYNLL1	119418707	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	8.840000	0.92125	2.077000	0.62373	0.454000	0.30748	ATA		0.577	DYNLL1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403709.1	NM_003746		20	85	0	0	0	0	20	85				
KPNA3	3839	broad.mit.edu	37	13	50293956	50293956	+	Splice_Site	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr13:50293956C>G	ENST00000261667.3	-	10	1141		c.e10-1			NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)						cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CTGGCAAAATCTGAGGAAAGA	0.333																																						uc001vdj.2		NA																	0					0						c.e10-1		karyopherin alpha 3							88.0	85.0	86.0					13																	50293956		2203	4298	6501	SO:0001630	splice_region_variant	3839				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity	g.chr13:50293956C>G	D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.727-1G>C	13.37:g.50293956C>G							p.I243_splice	NM_002267	NP_002258	O00505	IMA3_HUMAN		GBM - Glioblastoma multiforme(99;1.42e-09)	10	1142	-		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)						O00191|O43195|Q5JVM9|Q96AA7	Splice_Site	SNP	ENST00000261667.3	37	c.727_splice	CCDS9421.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477020	0.84640	.	.	ENSG00000102753	ENST00000261667	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4748	0.94983	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KPNA3	49191957	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.487000	0.81328	2.691000	0.91804	0.655000	0.94253	.		0.333	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044939.2	NM_002267	Intron	17	4	0	0	0	0	17	4				
MYO16	23026	broad.mit.edu	37	13	109496738	109496738	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr13:109496738A>C	ENST00000357550.2	+	9	1120	c.1079A>C	c.(1078-1080)aAa>aCa	p.K360T	MYO16_ENST00000356711.2_Missense_Mutation_p.K360T|MYO16_ENST00000251041.5_Missense_Mutation_p.K360T	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTGTTGGAAAAAGACATTATG	0.413																																						uc001vqt.1		NA																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(1078-1080)AAA>ACA		myosin heavy chain Myr 8							108.0	101.0	104.0					13																	109496738		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109496738A>C		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1079A>C	13.37:g.109496738A>C	ENSP00000350160:p.Lys360Thr					MYO16_uc010agk.1_Missense_Mutation_p.K382T|MYO16_uc001vqu.1_Missense_Mutation_p.K160T	p.K360T	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		10	1205	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		360						Missense_Mutation	SNP	ENST00000357550.2	37	c.1079A>C	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294182	0.81025	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857	D;D;T	0.82255	-1.59;-1.59;-1.25	5.61	5.61	0.85477	.	0.000000	0.43260	U	0.000588	D	0.90113	0.6911	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.71184	0.921;0.972	D	0.90289	0.4321	9	.	.	.	.	14.9967	0.71436	1.0:0.0:0.0:0.0	.	360;360	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	T	360;360;360;360;148	ENSP00000349145:K360T;ENSP00000350160:K360T;ENSP00000251041:K360T	.	K	+	2	0	MYO16	108294739	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.921000	0.75805	2.132000	0.65825	0.528000	0.53228	AAA		0.413	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		9	27	0	0	0	0	9	27				
GABRB3	2562	broad.mit.edu	37	15	26812872	26812872	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:26812872G>T	ENST00000311550.5	-	7	802	c.691C>A	c.(691-693)Cct>Act	p.P231T	GABRB3_ENST00000400188.3_Missense_Mutation_p.P160T|GABRB3_ENST00000545868.1_Missense_Mutation_p.P146T|GABRB3_ENST00000299267.4_Missense_Mutation_p.P231T|GABRB3_ENST00000541819.2_Missense_Mutation_p.P287T	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	231					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GACAGTCGAGGATAGGCACCT	0.433																																						uc001zaz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(691-693)CCT>ACT		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						104.0	91.0	96.0					15																	26812872		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26812872G>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.691C>A	15.37:g.26812872G>T	ENSP00000308725:p.Pro231Thr					GABRB3_uc010uae.1_Missense_Mutation_p.P146T|GABRB3_uc001zba.2_Missense_Mutation_p.P231T|GABRB3_uc001zbb.2_Missense_Mutation_p.P287T	p.P231T	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	7	833	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	231			Extracellular (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.691C>A	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850327	0.71719	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	6.06	6.06	0.98353	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.74045	0.3665	N	0.17674	0.51	0.80722	D	1	P;P;P	0.45672	0.864;0.69;0.832	P;P;P	0.53518	0.591;0.508;0.728	T	0.66736	-0.5848	10	0.02654	T	1	.	19.6125	0.95613	0.0:0.0:1.0:0.0	.	287;231;231	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	T	231;287;231;160;146	ENSP00000308725:P231T;ENSP00000442408:P287T;ENSP00000299267:P231T;ENSP00000383049:P160T;ENSP00000439169:P146T	ENSP00000299267:P231T	P	-	1	0	GABRB3	24363965	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	9.724000	0.98775	2.879000	0.98667	0.650000	0.86243	CCT		0.433	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			12	22	1	0	3.27e-08	1.01e-07	12	22				
CHP1	11261	broad.mit.edu	37	15	41549177	41549177	+	Silent	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:41549177C>T	ENST00000334660.5	+	3	450	c.210C>T	c.(208-210)ttC>ttT	p.F70F	CHP1_ENST00000560397.1_Silent_p.F70F|CHP1_ENST00000558351.1_3'UTR	NM_007236.4	NP_009167.1	Q99653	CHP1_HUMAN	calcineurin-like EF-hand protein 1	70	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion-dependent exocytosis (GO:0017156)|cellular response to acidic pH (GO:0071468)|cytoplasmic microtubule organization (GO:0031122)|membrane docking (GO:0022406)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|microtubule bundle formation (GO:0001578)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein glycosylation (GO:0060050)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of protein transport (GO:0051222)|positive regulation of sodium:proton antiporter activity (GO:0032417)|potassium ion transport (GO:0006813)|protein export from nucleus (GO:0006611)|protein oligomerization (GO:0051259)|protein stabilization (GO:0050821)|regulation of intracellular pH (GO:0051453)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|kinase binding (GO:0019900)|microtubule binding (GO:0008017)|potassium channel regulator activity (GO:0015459)|protein kinase inhibitor activity (GO:0004860)|transporter activity (GO:0005215)										TCAATGCCTTCTTTCCAGAGG	0.458																																						uc001znl.2		NA																	0				ovary(1)	1						c.(208-210)TTC>TTT		calcium binding protein P22							98.0	92.0	94.0					15																	41549177		2203	4300	6503	SO:0001819	synonymous_variant	11261				potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity	g.chr15:41549177C>T		CCDS10073.1	15q13.3	2013-01-11	2013-01-11		ENSG00000187446	ENSG00000187446		"""EF-hand domain containing"""	17433	protein-coding gene	gene with protein product	"""calcineurin homologous protein"""	606988				15987692, 20720019	Standard	NM_007236		Approved	Sid470p, CHP, SLC9A1BP, p22, p24	uc001znl.3	Q99653	OTTHUMG00000130233	ENST00000334660.5:c.210C>T	15.37:g.41549177C>T							p.F70F	NM_007236	NP_009167	Q99653	CHP1_HUMAN		GBM - Glioblastoma multiforme(113;1.68e-06)|LUSC - Lung squamous cell carcinoma(244;0.008)|Lung(196;0.00802)|BRCA - Breast invasive adenocarcinoma(123;0.169)	3	354	+		all_cancers(109;1.19e-18)|all_epithelial(112;5.87e-16)|Lung NSC(122;8.86e-12)|all_lung(180;2.47e-10)|Melanoma(134;0.0574)|Colorectal(260;0.0946)|Ovarian(310;0.143)	70			EF-hand 2.		B2R6H9|Q6FHZ9	Silent	SNP	ENST00000334660.5	37	c.210C>T	CCDS10073.1																																																																																				0.458	CHP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252554.2	NM_007236		16	39	0	0	0	0	16	39				
VPS39	23339	broad.mit.edu	37	15	42465981	42465981	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:42465981T>G	ENST00000348544.4	-	12	1062	c.1063A>C	c.(1063-1065)Aac>Cac	p.N355H	VPS39_ENST00000318006.5_Missense_Mutation_p.N344H			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	355					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CAGAAGAGGTTGAAGGCATAC	0.408																																						uc001zpd.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1063-1065)AAC>CAC		vacuolar protein sorting 39							188.0	161.0	170.0					15																	42465981		2203	4299	6502	SO:0001583	missense	23339				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity	g.chr15:42465981T>G	AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.1063A>C	15.37:g.42465981T>G	ENSP00000335193:p.Asn355His					VPS39_uc001zpc.2_Missense_Mutation_p.N344H	p.N355H	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	12	1214	-		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	355					O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	ENST00000348544.4	37	c.1063A>C	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.659358	0.47467	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.43294	0.95;0.96	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.35451	0.0932	L	0.41573	1.285	0.80722	D	1	B;B	0.23058	0.047;0.079	B;B	0.25884	0.052;0.064	T	0.13335	-1.0513	10	0.15066	T	0.55	-25.3692	15.5793	0.76422	0.0:0.0:0.0:1.0	.	355;344	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	H	344;355	ENSP00000326534:N344H;ENSP00000335193:N355H	ENSP00000326534:N344H	N	-	1	0	VPS39	40253273	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.051000	0.64257	2.077000	0.62373	0.528000	0.53228	AAC		0.408	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1	NM_015289		46	41	0	0	0	0	46	41				
ONECUT1	3175	broad.mit.edu	37	15	53081052	53081052	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:53081052G>A	ENST00000305901.5	-	1	1157	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	344					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		AAGGTCTCCCGGCCGGATTTG	0.672																																						uc002aci.1		NA																	0					0						c.(1030-1032)CGG>TGG		one cut homeobox 1							55.0	55.0	55.0					15																	53081052		2194	4293	6487	SO:0001583	missense	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081052G>A	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.1030C>T	15.37:g.53081052G>A	ENSP00000302630:p.Arg344Trp						p.R344W	NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	1158	-			344			CUT.		B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	c.1030C>T	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822624	0.71028	.	.	ENSG00000169856	ENST00000305901	T	0.63255	-0.03	4.6	4.6	0.57074	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.83562	0.5281	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88060	0.2793	10	0.87932	D	0	-15.1065	16.1655	0.81750	0.0:0.0:1.0:0.0	.	344	Q9UBC0	HNF6_HUMAN	W	344	ENSP00000302630:R344W	ENSP00000302630:R344W	R	-	1	2	ONECUT1	50868344	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.555000	0.53727	2.367000	0.80283	0.514000	0.50259	CGG		0.672	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			21	43	0	0	0	0	21	43				
MYO1E	4643	broad.mit.edu	37	15	59445837	59445837	+	Missense_Mutation	SNP	G	G	A	rs546147455		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:59445837G>A	ENST00000288235.4	-	26	3431	c.3032C>T	c.(3031-3033)aCg>aTg	p.T1011M	AC092757.1_ENST00000408169.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	1011					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GCTCTCTGGCGTCTGTGACAC	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18279	0.0		0.0	False		,,,				2504	0.0					uc002aga.2		NA																	0				central_nervous_system(3)	3						c.(3031-3033)ACG>ATG		myosin IE							89.0	87.0	87.0					15																	59445837		2191	4291	6482	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59445837G>A	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.3032C>T	15.37:g.59445837G>A	ENSP00000288235:p.Thr1011Met						p.T1011M	NM_004998	NP_004989	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	26	3404	-			1011					Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.3032C>T	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298887	0.23650	.	.	ENSG00000157483	ENST00000288235	D	0.87029	-2.2	5.54	2.4	0.29515	.	0.860605	0.10774	N	0.635629	T	0.78978	0.4369	L	0.34521	1.04	0.20975	N	0.999817	B	0.12013	0.005	B	0.08055	0.003	T	0.66352	-0.5945	10	0.45353	T	0.12	.	6.3791	0.21523	0.172:0.0:0.5869:0.2411	.	1011	Q12965	MYO1E_HUMAN	M	1011	ENSP00000288235:T1011M	ENSP00000288235:T1011M	T	-	2	0	MYO1E	57233129	0.022000	0.18835	0.049000	0.19019	0.325000	0.28411	0.935000	0.28924	0.711000	0.32018	0.655000	0.94253	ACG		0.582	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		29	68	0	0	0	0	29	68				
HERC1	8925	broad.mit.edu	37	15	63950807	63950807	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:63950807C>T	ENST00000443617.2	-	48	9622	c.9535G>A	c.(9535-9537)Gct>Act	p.A3179T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3179					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGAGCAGCAGCAGTCACTCTC	0.493																																						uc002amp.2		NA																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(9535-9537)GCT>ACT		hect domain and RCC1-like domain 1							68.0	67.0	68.0					15																	63950807		1978	4173	6151	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63950807C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.9535G>A	15.37:g.63950807C>T	ENSP00000390158:p.Ala3179Thr						p.A3179T	NM_003922	NP_003913	Q15751	HERC1_HUMAN			48	9683	-			3179					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.9535G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	35	5.544848	0.96488	.	.	ENSG00000103657	ENST00000443617	T	0.27402	1.67	5.28	5.28	0.74379	.	0.000000	0.64402	U	0.000001	T	0.49779	0.1577	L	0.44542	1.39	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.46555	-0.9183	10	0.54805	T	0.06	.	18.9366	0.92588	0.0:1.0:0.0:0.0	.	3179	Q15751	HERC1_HUMAN	T	3179	ENSP00000390158:A3179T	ENSP00000390158:A3179T	A	-	1	0	HERC1	61737860	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.824000	0.69279	2.454000	0.82982	0.650000	0.86243	GCT		0.493	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		13	36	0	0	0	0	13	36				
SLCO3A1	28232	broad.mit.edu	37	15	92459366	92459366	+	Silent	SNP	G	G	T	rs370591300		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr15:92459366G>T	ENST00000318445.6	+	2	538	c.324G>T	c.(322-324)ctG>ctT	p.L108L	SLCO3A1_ENST00000424469.2_Silent_p.L108L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	108					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.L108L(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GGCCGCGCCTGATCGGCTGCG	0.682																																						uc002bqx.2		NA																	2	Substitution - coding silent(2)		cervix(1)|lung(1)	skin(1)	1						c.(322-324)CTG>CTT		solute carrier organic anion transporter family,							21.0	18.0	19.0					15																	92459366		2075	4073	6148	SO:0001819	synonymous_variant	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92459366G>T	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.324G>T	15.37:g.92459366G>T						SLCO3A1_uc002bqy.2_Silent_p.L108L|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Silent_p.L50L	p.L108L	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		2	525	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		108			Helical; Name=3; (Potential).		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	ENST00000318445.6	37	c.324G>T	CCDS10371.1																																																																																				0.682	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		9	15	1	0	7.48e-07	2.24e-06	9	15				
ABCA3	21	broad.mit.edu	37	16	2339465	2339465	+	Silent	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:2339465C>T	ENST00000301732.5	-	20	3370	c.2670G>A	c.(2668-2670)gaG>gaA	p.E890E	ABCA3_ENST00000382381.3_Silent_p.E832E	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	890					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CGGTGCGCTCCTCCTCGATGA	0.677																																						uc002cpy.1		NA																	0				breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(2668-2670)GAG>GAA		ATP-binding cassette, sub-family A member 3							29.0	27.0	28.0					16																	2339465		2195	4298	6493	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2339465C>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2670G>A	16.37:g.2339465C>T						ABCA3_uc010bsk.1_Silent_p.E832E|ABCA3_uc010bsl.1_Silent_p.E890E	p.E890E	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			20	3382	-		Ovarian(90;0.17)	890					B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.2670G>A	CCDS10466.1																																																																																				0.677	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		10	4	0	0	0	0	10	4				
CREBBP	1387	broad.mit.edu	37	16	3900396	3900396	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:3900396C>G	ENST00000262367.5	-	2	1509	c.700G>C	c.(700-702)Gcc>Ccc	p.A234P	CREBBP_ENST00000382070.3_Missense_Mutation_p.A234P	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	234	Interaction with SRCAP.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGCTCGAGGCGCCCTGCATG	0.622			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NA		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(700-702)GCC>CCC		CREB binding protein isoform a							90.0	79.0	83.0					16																	3900396		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3900396C>G	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.700G>C	16.37:g.3900396C>G	ENSP00000262367:p.Ala234Pro					CREBBP_uc002cvw.2_Missense_Mutation_p.A234P	p.A234P	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	2	904	-		Ovarian(90;0.0266)	234			Interaction with SRCAP.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.700G>C	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853178	0.51270	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83506	-1.73;-1.69	6.01	1.44	0.22558	.	0.282016	0.33854	N	0.004497	T	0.60945	0.2308	N	0.19112	0.55	0.32895	D	0.512356	B;P	0.41673	0.134;0.759	B;B	0.33568	0.041;0.166	T	0.62196	-0.6905	10	0.27082	T	0.32	-4.268	3.4207	0.07392	0.0:0.3269:0.2084:0.4647	.	302;234	Q4LE28;Q92793	.;CBP_HUMAN	P	234;302;234	ENSP00000262367:A234P;ENSP00000371502:A234P	ENSP00000262367:A234P	A	-	1	0	CREBBP	3840397	0.352000	0.24895	0.975000	0.42487	0.795000	0.44927	0.614000	0.24314	0.429000	0.26202	0.650000	0.86243	GCC		0.622	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		3	62	0	0	0	0	3	62				
PALB2	79728	broad.mit.edu	37	16	23646937	23646937	+	Silent	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:23646937A>G	ENST00000261584.4	-	4	1082	c.930T>C	c.(928-930)agT>agC	p.S310S		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	310	DNA-binding (with the preference D loop > dsDNA > ssDNA).|Interaction with BRCA1.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GGCCACTTTTACTTATAGCTT	0.343			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002dlx.1		NA	yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	F|N|Mis	partner and localizer of BRCA2			"""L, O, E"""		Wilms tumor|medulloblastoma|AML ,breast			0				lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11						c.(928-930)AGT>AGC	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	partner and localizer of BRCA2							80.0	81.0	81.0					16																	23646937		2197	4300	6497	SO:0001819	synonymous_variant	79728	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of			double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23646937A>G		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.930T>C	16.37:g.23646937A>G							p.S310S	NM_024675	NP_078951	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	4	1130	-			310			Interaction with BRCA1.		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Silent	SNP	ENST00000261584.4	37	c.930T>C	CCDS32406.1																																																																																				0.343	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		43	88	0	0	0	0	43	88				
SLC6A2	6530	broad.mit.edu	37	16	55730222	55730222	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:55730222G>A	ENST00000379906.2	+	8	1488	c.1233G>A	c.(1231-1233)atG>atA	p.M411I	SLC6A2_ENST00000568943.1_Missense_Mutation_p.M411I|SLC6A2_ENST00000219833.8_Missense_Mutation_p.M411I|SLC6A2_ENST00000561820.1_Missense_Mutation_p.M411I|SLC6A2_ENST00000414754.3_Missense_Mutation_p.M411I|SLC6A2_ENST00000566163.1_Missense_Mutation_p.M366I|SLC6A2_ENST00000567238.1_Missense_Mutation_p.M306I	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	411					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TTTTCGTCATGCTCCTGGCGC	0.542																																						uc002eif.2		NA																	0				lung(4)|ovary(2)|pancreas(2)	8						c.(1231-1233)ATG>ATA		solute carrier family 6 member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						243.0	202.0	216.0					16																	55730222		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55730222G>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1233G>A	16.37:g.55730222G>A	ENSP00000369237:p.Met411Ile					SLC6A2_uc010ccd.2_Missense_Mutation_p.M411I|SLC6A2_uc002eig.2_Missense_Mutation_p.M411I|SLC6A2_uc002eih.2_Missense_Mutation_p.M411I|SLC6A2_uc002eii.2_Missense_Mutation_p.M306I|SLC6A2_uc002eij.2_Missense_Mutation_p.M125I	p.M411I	NM_001043	NP_001034	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	9	1344	+			411			Helical; Name=8; (Potential).		B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.1233G>A	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707522	0.89018	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.77620	-1.11;-1.11;-1.11	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.91078	0.7192	H	0.98682	4.3	0.80722	D	1	P;P;P;P	0.46142	0.787;0.721;0.873;0.675	P;P;P;P	0.54431	0.548;0.557;0.752;0.548	D	0.94576	0.7775	10	0.87932	D	0	.	16.1026	0.81194	0.0:0.0:1.0:0.0	.	411;125;306;411	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	I	411;125;411;411	ENSP00000394956:M411I;ENSP00000369237:M411I;ENSP00000219833:M411I	ENSP00000219833:M411I	M	+	3	0	SLC6A2	54287723	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.965000	0.93393	2.169000	0.68431	0.655000	0.94253	ATG		0.542	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			27	92	0	0	0	0	27	92				
CDH11	1009	broad.mit.edu	37	16	65016141	65016141	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:65016141C>G	ENST00000268603.4	-	8	1678	c.1063G>C	c.(1063-1065)Gac>Cac	p.D355H	CDH11_ENST00000394156.3_Missense_Mutation_p.D355H|CDH11_ENST00000566827.1_Missense_Mutation_p.D229H	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	355	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AACTTCGGGTCGATGTGCACG	0.468			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				lung(10)|ovary(3)|skin(1)	14						c.(1063-1065)GAC>CAC		cadherin 11, type 2 preproprotein							135.0	107.0	116.0					16																	65016141		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65016141C>G	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1063G>C	16.37:g.65016141C>G	ENSP00000268603:p.Asp355His	TSP Lung(24;0.17)				CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.D355H|CDH11_uc010vin.1_Missense_Mutation_p.D229H|CDH11_uc002eok.1_RNA	p.D355H	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	8	1497	-		Ovarian(137;0.0973)	355			Cadherin 3.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1063G>C	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768003	0.90020	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.20332	2.08;2.08	5.61	5.61	0.85477	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.62441	0.2428	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.97;0.995	T	0.74583	-0.3617	10	0.87932	D	0	.	18.9874	0.92777	0.0:1.0:0.0:0.0	.	355;355	P55287-2;P55287	.;CAD11_HUMAN	H	355;355;338	ENSP00000268603:D355H;ENSP00000377711:D355H	ENSP00000268603:D355H	D	-	1	0	CDH11	63573642	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	7.370000	0.79589	2.813000	0.96785	0.655000	0.94253	GAC		0.468	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		18	78	0	0	0	0	18	78				
ADAMTS18	170692	broad.mit.edu	37	16	77327096	77327096	+	Silent	SNP	G	G	C	rs374112306		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr16:77327096G>C	ENST00000282849.5	-	20	3484	c.3066C>G	c.(3064-3066)gcC>gcG	p.A1022A	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1022	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGGTTTCTGCGGCAGAGCCCT	0.557																																						uc002ffc.3		NA																	0				large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(3064-3066)GCC>GCG		ADAM metallopeptidase with thrombospondin type 1							89.0	86.0	87.0					16																	77327096		2198	4300	6498	SO:0001819	synonymous_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77327096G>C	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3066C>G	16.37:g.77327096G>C						ADAMTS18_uc010chc.1_Silent_p.A610A	p.A1022A	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			20	3485	-			1022			TSP type-1 3.		Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	c.3066C>G	CCDS10926.1																																																																																				0.557	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			46	39	0	0	0	0	46	39				
SLC35G6	643664	broad.mit.edu	37	17	7386050	7386050	+	Silent	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:7386050T>C	ENST00000412468.2	+	2	862	c.747T>C	c.(745-747)gaT>gaC	p.D249D	ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000322644.6_5'Flank|POLR2A_ENST00000572844.1_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	249						integral component of membrane (GO:0016021)											TGCCCAGTGATCTCCCGAGTT	0.632																																						uc010cmj.1		NA																	0					0						c.(745-747)GAT>GAC		acyl-malonyl condensing enzyme 1-like 3							67.0	59.0	62.0					17																	7386050		2203	4300	6503	SO:0001819	synonymous_variant	643664					integral to membrane		g.chr17:7386050T>C		CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"""Solute carriers"""	31351	protein-coding gene	gene with protein product			"""transmembrane protein 21B"", ""acyl-malonyl condensing enzyme 1-like 3"""	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.747T>C	17.37:g.7386050T>C						ZBTB4_uc002ghd.3_Intron|POLR2A_uc002ghe.2_5'Flank|POLR2A_uc002ghf.3_5'Flank	p.D249D	NM_001102614	NP_001096084	P0C7Q6	AMCL3_HUMAN			2	862	+		Prostate(122;0.173)	249						Silent	SNP	ENST00000412468.2	37	c.747T>C	CCDS45603.1																																																																																				0.632	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614		5	68	0	0	0	0	5	68				
TMEM132E	124842	broad.mit.edu	37	17	32953598	32953598	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:32953598C>T	ENST00000321639.5	+	2	848	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	174						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCGGGATGCCCGGGAAGTCAA	0.716																																						uc002hif.2		NA																	0				central_nervous_system(1)	1						c.(520-522)CGG>TGG		transmembrane protein 132E precursor							9.0	12.0	11.0					17																	32953598		2164	4236	6400	SO:0001583	missense	124842					integral to membrane		g.chr17:32953598C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.520C>T	17.37:g.32953598C>T	ENSP00000316532:p.Arg174Trp						p.R174W	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	2	848	+			174			Extracellular (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.520C>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	c	20.4	3.992543	0.74703	.	.	ENSG00000181291	ENST00000321639	T	0.15017	2.46	4.5	4.5	0.54988	.	0.128193	0.51477	D	0.000084	T	0.28632	0.0709	M	0.72353	2.195	0.34601	D	0.716489	D	0.69078	0.997	P	0.50896	0.653	T	0.48917	-0.8992	10	0.87932	D	0	-27.1906	11.5959	0.50972	0.178:0.822:0.0:0.0	.	174	Q6IEE7	T132E_HUMAN	W	174	ENSP00000316532:R174W	ENSP00000316532:R174W	R	+	1	2	TMEM132E	29977711	0.978000	0.34361	1.000000	0.80357	0.978000	0.69477	2.648000	0.46647	2.309000	0.77851	0.543000	0.68304	CGG		0.716	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		15	12	0	0	0	0	15	12				
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:39274206C>T	ENST00000391413.2	-	1	400	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.R121K(5)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652																																						uc002hvz.2		NA																	5	Substitution - Missense(5)		lung(2)|prostate(1)|kidney(1)|skin(1)		0						c.(361-363)AGA>AAA		keratin associated protein 4-11							5.0	9.0	8.0					17																	39274206		644	1533	2177	SO:0001583	missense	653240					keratin filament		g.chr17:39274206C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.362G>A	17.37:g.39274206C>T	ENSP00000375232:p.Arg121Lys						p.R121K	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	401	-		Breast(137;0.000496)	121			20.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.362G>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	4.782	0.145483	0.09134	.	.	ENSG00000212721	ENST00000391413	T	0.01455	4.87	3.34	-4.84	0.03151	.	.	.	.	.	T	0.01905	0.0060	M	0.73962	2.25	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.50276	-0.8847	9	0.11794	T	0.64	.	2.2508	0.04042	0.1417:0.1925:0.1396:0.5262	.	121	Q9BYQ6	KR411_HUMAN	K	121	ENSP00000375232:R121K	ENSP00000375232:R121K	R	-	2	0	KRTAP4-11	36527732	0.000000	0.05858	0.009000	0.14445	0.065000	0.16274	-1.602000	0.02079	-0.525000	0.06391	-1.218000	0.01608	AGA		0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			5	51	0	0	0	0	5	51				
ADAM11	4185	broad.mit.edu	37	17	42850673	42850673	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:42850673G>A	ENST00000200557.6	+	11	1039	c.870G>A	c.(868-870)atG>atA	p.M290I	ADAM11_ENST00000535346.1_Missense_Mutation_p.M90I	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	290	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				TGGTTGCCATGGAAACATGGG	0.622																																						uc002ihh.2		NA																	0				pancreas(1)	1						c.(868-870)ATG>ATA		ADAM metallopeptidase domain 11 preproprotein							129.0	114.0	119.0					17																	42850673		2203	4300	6503	SO:0001583	missense	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42850673G>A	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.870G>A	17.37:g.42850673G>A	ENSP00000200557:p.Met290Ile					ADAM11_uc010wjd.1_Missense_Mutation_p.M90I	p.M290I	NM_002390	NP_002381	O75078	ADA11_HUMAN			11	870	+		Prostate(33;0.0959)	290			Extracellular (Potential).|Peptidase M12B.		Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	c.870G>A	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	G	9.114	1.007285	0.19199	.	.	ENSG00000073670	ENST00000200557;ENST00000535346;ENST00000355638	T;T	0.61859	0.07;0.07	4.77	4.77	0.60923	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.050983	0.85682	D	0.000000	T	0.61899	0.2384	N	0.25201	0.72	0.80722	D	1	B;D	0.71674	0.152;0.998	B;D	0.72625	0.159;0.978	T	0.57015	-0.7883	10	0.20519	T	0.43	.	16.7331	0.85440	0.0:0.0:1.0:0.0	.	90;290	B4DKD2;O75078	.;ADA11_HUMAN	I	290;90;190	ENSP00000200557:M290I;ENSP00000443773:M90I	ENSP00000200557:M290I	M	+	3	0	ADAM11	40206199	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	9.630000	0.98420	2.478000	0.83669	0.561000	0.74099	ATG		0.622	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		25	93	0	0	0	0	25	93				
RAD51C	5889	broad.mit.edu	37	17	56770057	56770057	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:56770057C>G	ENST00000337432.4	+	1	124	c.53C>G	c.(52-54)cCg>cGg	p.P18R	RAD51C_ENST00000421782.2_Missense_Mutation_p.P18R|RAD51C_ENST00000487921.1_Intron|RAD51C_ENST00000583539.1_Missense_Mutation_p.P18R|TEX14_ENST00000240361.8_5'Flank|TEX14_ENST00000349033.5_5'Flank|TEX14_ENST00000389934.3_5'Flank	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	18	Required for Holliday junction resolution activity.				blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTGAGTTTCCCGCTGTCTCCA	0.602								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																													uc002iwu.2		NA																	0					0						c.(52-54)CCG>CGG	Homologous_recombination	RAD51 homolog C isoform 1							82.0	79.0	80.0					17																	56770057		2203	4300	6503	SO:0001583	missense	5889	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2	Familial Cancer Database	BRCAX	blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr17:56770057C>G	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"""Fanconi anemia, complementation groups"""	9820	protein-coding gene	gene with protein product		602774	"""RAD51 (S. cerevisiae) homolog C"", ""RAD51 homolog C (S. cerevisiae)"""			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.53C>G	17.37:g.56770057C>G	ENSP00000336701:p.Pro18Arg					TEX14_uc002iwr.1_5'Flank|TEX14_uc002iws.1_5'Flank|TEX14_uc010dcz.1_5'Flank|TEX14_uc010dda.1_5'Flank|TEX14_uc010wnz.1_5'Flank|RAD51C_uc002iwt.1_Missense_Mutation_p.P18R|RAD51C_uc010woa.1_Missense_Mutation_p.P18R|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA|RAD51C_uc010wob.1_Intron	p.P18R	NM_058216	NP_478123	O43502	RA51C_HUMAN			1	95	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		18					O43503|Q3B783	Missense_Mutation	SNP	ENST00000337432.4	37	c.53C>G	CCDS11611.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480647	0.44044	.	.	ENSG00000108384	ENST00000337432;ENST00000421782	T;T	0.49139	0.79;1.06	5.75	3.74	0.42951	.	0.058010	0.64402	D	0.000001	T	0.66954	0.2842	M	0.77820	2.39	0.43814	D	0.996377	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.986;0.986;0.998	T	0.70539	-0.4844	10	0.59425	D	0.04	-3.9989	11.9108	0.52737	0.0:0.8542:0.0:0.1458	.	9;18;18	B4E0G0;O43502;O43503	.;RA51C_HUMAN;.	R	18	ENSP00000336701:P18R;ENSP00000391450:P18R	ENSP00000336701:P18R	P	+	2	0	RAD51C	54125056	0.984000	0.35163	0.306000	0.25113	0.950000	0.60333	4.517000	0.60503	1.429000	0.47314	0.563000	0.77884	CCG		0.602	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2	NM_058216		20	68	0	0	0	0	20	68				
MED13	9969	broad.mit.edu	37	17	60112835	60112835	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:60112835C>T	ENST00000397786.2	-	4	681	c.605G>A	c.(604-606)aGc>aAc	p.S202N	Y_RNA_ENST00000363972.1_RNA	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	202					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGAAATGGGCTATTAGACTG	0.338																																						uc002izo.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(604-606)AGC>AAC		mediator complex subunit 13							114.0	105.0	108.0					17																	60112835		1845	4095	5940	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60112835C>T	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.605G>A	17.37:g.60112835C>T	ENSP00000380888:p.Ser202Asn						p.S202N	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			4	682	-			202					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.605G>A	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515362	0.44763	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.74842	-0.88	5.29	4.3	0.51218	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.085674	0.85682	D	0.000000	T	0.70116	0.3187	L	0.58669	1.825	0.51767	D	0.999936	B	0.10296	0.003	B	0.14578	0.011	T	0.68930	-0.5279	10	0.51188	T	0.08	-18.1253	13.3183	0.60419	0.0:0.8698:0.0:0.1301	.	202	Q9UHV7	MED13_HUMAN	N	202;201	ENSP00000380888:S202N	ENSP00000262436:S201N	S	-	2	0	MED13	57467617	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.000000	0.49481	2.627000	0.88993	0.563000	0.77884	AGC		0.338	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		10	45	0	0	0	0	10	45				
POLG2	11232	broad.mit.edu	37	17	62492731	62492731	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:62492731A>G	ENST00000539111.2	-	1	423	c.356T>C	c.(355-357)gTg>gCg	p.V119A		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	119				WWTSVVVFREQ -> MVDLGGGVHGA (in Ref. 5; AAC51321). {ECO:0000305}.	DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CCTGAACACCACCACCGAGGT	0.602																																					Colon(3;18 21 435 17652 48887)	uc002jei.2		NA																	0				central_nervous_system(1)	1						c.(355-357)GTG>GCG		DNA polymerase subunit gamma-2, mitochondrial							81.0	74.0	76.0					17																	62492731		2203	4300	6503	SO:0001583	missense	11232				DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	g.chr17:62492731A>G	U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"""DNA polymerases"""	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.356T>C	17.37:g.62492731A>G	ENSP00000442563:p.Val119Ala					POLG2_uc010deg.1_Missense_Mutation_p.V119A	p.V119A	NM_007215	NP_009146	Q9UHN1	DPOG2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;4.97e-11)		1	439	-	Breast(5;2.15e-14)		119	WWTSVVVFREQ -> MVDLGGGVHGA (in Ref. 5; AAC51321).				O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Missense_Mutation	SNP	ENST00000539111.2	37	c.356T>C	CCDS32706.1	.	.	.	.	.	.	.	.	.	.	A	15.75	2.926934	0.52759	.	.	ENSG00000256525	ENST00000539111	T	0.78816	-1.21	5.15	1.38	0.22167	.	0.585977	0.17858	N	0.159618	T	0.71626	0.3362	M	0.72576	2.205	0.31341	N	0.683609	B;B	0.12630	0.006;0.006	B;B	0.18263	0.021;0.021	T	0.70835	-0.4764	10	0.87932	D	0	-13.1737	4.9061	0.13799	0.6352:0.0:0.226:0.1387	.	119;119	E5KS15;Q9UHN1	.;DPOG2_HUMAN	A	119	ENSP00000442563:V119A	ENSP00000442563:V119A	V	-	2	0	POLG2	59923193	0.971000	0.33674	1.000000	0.80357	0.996000	0.88848	1.633000	0.37113	0.828000	0.34709	0.454000	0.30748	GTG		0.602	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		28	47	0	0	0	0	28	47				
DNAI2	64446	broad.mit.edu	37	17	72278070	72278070	+	Silent	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:72278070C>A	ENST00000311014.6	+	2	181	c.114C>A	c.(112-114)gcC>gcA	p.A38A	DNAI2_ENST00000582036.1_Silent_p.A38A|DNAI2_ENST00000446837.2_Silent_p.A38A|DNAI2_ENST00000579490.1_Silent_p.A95A|DNAI2_ENST00000307504.5_5'UTR			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	38					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTGAGCTGGCCGAGCAGTTCG	0.622									Kartagener syndrome																													uc002jkf.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(112-114)GCC>GCA		dynein, axonemal, intermediate polypeptide 2							140.0	119.0	126.0					17																	72278070		2203	4300	6503	SO:0001819	synonymous_variant	64446	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72278070C>A	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.114C>A	17.37:g.72278070C>A						DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA	p.A38A	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			2	213	+			38					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	37	c.114C>A	CCDS11697.1																																																																																				0.622	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		32	185	1	0	4.32e-10	1.37e-09	32	185				
RECQL5	9400	broad.mit.edu	37	17	73625498	73625498	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:73625498C>T	ENST00000317905.5	-	16	2164	c.2005G>A	c.(2005-2007)Gcc>Acc	p.A669T	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.A642T	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	669	Interaction with RAD51.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGTTCCGTGGCCGTCTGGAAC	0.657								Other identified genes with known or suspected DNA repair function																														uc010dgl.2		NA																	0				kidney(3)	3						c.(2005-2007)GCC>ACC	Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like 5 isoform 1							25.0	27.0	26.0					17																	73625498		1923	4098	6021	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73625498C>T	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2005G>A	17.37:g.73625498C>T	ENSP00000317636:p.Ala669Thr					RECQL5_uc010dgk.2_Missense_Mutation_p.A642T|RECQL5_uc002jot.3_5'Flank	p.A669T	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		16	2161	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		669					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.2005G>A	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075809	0.36662	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.57107	0.42	4.96	4.96	0.65561	RecQ helicase-like 5 (2);	0.062472	0.64402	D	0.000004	T	0.71400	0.3335	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.74061	-0.3786	10	0.66056	D	0.02	-23.5953	17.3728	0.87383	0.0:1.0:0.0:0.0	.	669;642	O94762;Q6P4G0	RECQ5_HUMAN;.	T	264;669;669	ENSP00000317636:A669T	ENSP00000317636:A669T	A	-	1	0	RECQL5	71137093	1.000000	0.71417	0.982000	0.44146	0.052000	0.14988	5.401000	0.66326	2.564000	0.86499	0.561000	0.74099	GCC		0.657	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		11	50	0	0	0	0	11	50				
SMCHD1	23347	broad.mit.edu	37	18	2706416	2706416	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr18:2706416A>G	ENST00000320876.6	+	15	2349	c.2011A>G	c.(2011-2013)Agg>Ggg	p.R671G	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.R671G	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	671					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAAGCTGGATAGGACAGTTGC	0.333																																						uc002klm.3		NA																	0					0						c.(2011-2013)AGG>GGG		structural maintenance of chromosomes flexible							48.0	45.0	46.0					18																	2706416		1823	4094	5917	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2706416A>G	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2011A>G	18.37:g.2706416A>G	ENSP00000326603:p.Arg671Gly					SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	p.R671G	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			15	2200	+			671					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.2011A>G	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	A	12.84	2.058717	0.36277	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.25250	1.81;1.82	5.71	5.71	0.89125	.	0.056437	0.64402	D	0.000002	T	0.43144	0.1234	L	0.50333	1.59	0.37596	D	0.920381	D	0.67145	0.996	D	0.67382	0.951	T	0.49103	-0.8974	10	0.72032	D	0.01	-13.6236	12.4963	0.55929	0.8607:0.1393:0.0:0.0	.	671	A6NHR9	SMHD1_HUMAN	G	671	ENSP00000326603:R671G;ENSP00000261598:R671G	ENSP00000261598:R671G	R	+	1	2	SMCHD1	2696416	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.634000	0.61325	2.180000	0.69256	0.377000	0.23210	AGG		0.333	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			4	26	0	0	0	0	4	26				
SMCHD1	23347	broad.mit.edu	37	18	2738442	2738442	+	Silent	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr18:2738442G>T	ENST00000320876.6	+	26	3662	c.3324G>T	c.(3322-3324)ctG>ctT	p.L1108L	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.L1108L	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1108					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TACAGGGTCTGCTTCCTGATG	0.373																																						uc002klm.3		NA																	0					0						c.(3322-3324)CTG>CTT		structural maintenance of chromosomes flexible							123.0	110.0	114.0					18																	2738442		1882	4103	5985	SO:0001819	synonymous_variant	23347				chromosome organization		ATP binding	g.chr18:2738442G>T	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3324G>T	18.37:g.2738442G>T						SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	p.L1108L	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			26	3513	+			1108					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	ENST00000320876.6	37	c.3324G>T	CCDS45822.1																																																																																				0.373	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			34	10	1	0	8.17e-17	2.71e-16	34	10				
TNFRSF11A	8792	broad.mit.edu	37	18	60025571	60025571	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr18:60025571C>T	ENST00000586569.1	+	5	556	c.518C>T	c.(517-519)aCc>aTc	p.T173I	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.T173I	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	173					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				AGACCCTGGACCAAGTAAGTA	0.478																																						uc002lin.2		NA																	0		p.T173A(1)		breast(2)|lung(1)	3						c.(517-519)ACC>ATC		tumor necrosis factor receptor superfamily,							117.0	109.0	111.0					18																	60025571		2203	4300	6503	SO:0001583	missense	8792	Paget_Disease_of_Bone			adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60025571C>T	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.518C>T	18.37:g.60025571C>T	ENSP00000465500:p.Thr173Ile					TNFRSF11A_uc010dpv.2_Missense_Mutation_p.T173I	p.T173I	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN			5	556	+		Colorectal(73;0.188)	173			TNFR-Cys 4.|Extracellular (Potential).		I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	ENST00000586569.1	37	c.518C>T	CCDS11980.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940180	0.73557	.	.	ENSG00000141655	ENST00000382790;ENST00000269485	T	0.69561	-0.41	5.85	5.85	0.93711	TNFR/CD27/30/40/95 cysteine-rich region (1);	0.000000	0.85682	D	0.000000	D	0.87237	0.6127	M	0.93763	3.455	0.47511	D	0.999448	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	D	0.89663	0.3878	9	.	.	.	-27.5699	19.7493	0.96261	0.0:1.0:0.0:0.0	.	195;173	Q59EP9;Q9Y6Q6	.;TNR11_HUMAN	I	195;173	ENSP00000269485:T173I	.	T	+	2	0	TNFRSF11A	58176551	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	4.759000	0.62227	2.767000	0.95098	0.563000	0.77884	ACC		0.478	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2			21	52	0	0	0	0	21	52				
MUC16	94025	broad.mit.edu	37	19	9008172	9008172	+	Splice_Site	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:9008172C>A	ENST00000397910.4	-	41	39583		c.e41+1			NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGCCACTCACCATTGACGTA	0.527																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.e41+1		mucin 16							193.0	175.0	181.0					19																	9008172		2042	4193	6235	SO:0001630	splice_region_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9008172C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39379+1G>T	19.37:g.9008172C>A						MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron	p.G13127_splice	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			41	39583	-								Q6ZQW5|Q96RK2	Splice_Site	SNP	ENST00000397910.4	37	c.39379_splice	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	8.668	0.902211	0.17760	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	.	.	.	2.04	2.04	0.26737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.589	0.28010	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MUC16	8869172	1.000000	0.71417	0.705000	0.30386	0.009000	0.06853	4.058000	0.57463	1.437000	0.47472	0.195000	0.17529	.		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	Intron	57	158	1	0	1.87e-40	6.55e-40	57	158				
RYR1	6261	broad.mit.edu	37	19	38979900	38979900	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:38979900G>T	ENST00000359596.3	+	35	5631	c.5631G>T	c.(5629-5631)gaG>gaT	p.E1877D	RYR1_ENST00000360985.3_Missense_Mutation_p.E1877D|RYR1_ENST00000355481.4_Missense_Mutation_p.E1877D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1877	6 X approximate repeats.|Glu-rich (acidic).				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	aagaagaggaggaggacgagg	0.493																																						uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(5629-5631)GAG>GAT		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						90.0	75.0	80.0					19																	38979900		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38979900G>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5631G>T	19.37:g.38979900G>T	ENSP00000352608:p.Glu1877Asp					RYR1_uc002oiu.2_Missense_Mutation_p.E1877D	p.E1877D	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		35	5761	+	all_cancers(60;7.91e-06)		1877			Glu-rich (acidic).|Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5631G>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	5.614	0.298102	0.10622	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.06294	3.32;3.32;3.32	4.06	-1.78	0.07957	.	0.085858	0.43110	U	0.000620	T	0.04998	0.0134	M	0.66939	2.045	0.23036	N	0.998396	B;P	0.49185	0.0;0.92	B;B	0.37780	0.002;0.258	T	0.46359	-0.9197	10	0.13470	T	0.59	.	5.6467	0.17594	0.6597:0.1581:0.1822:0.0	.	1877;1877	P21817-2;P21817	.;RYR1_HUMAN	D	1877	ENSP00000352608:E1877D;ENSP00000347667:E1877D;ENSP00000354254:E1877D	ENSP00000347667:E1877D	E	+	3	2	RYR1	43671740	0.000000	0.05858	0.901000	0.35422	0.103000	0.19146	-0.787000	0.04618	-0.302000	0.08869	-0.267000	0.10333	GAG		0.493	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			7	20	1	0	2.01e-06	5.98e-06	7	20				
EID2B	126272	broad.mit.edu	37	19	40023356	40023356	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:40023356G>A	ENST00000326282.4	-	1	138	c.87C>T	c.(85-87)agC>agT	p.S29S	EID2B_ENST00000601837.1_Intron|CTB-60E11.9_ENST00000594676.1_RNA	NM_152361.1	NP_689574.1			EP300 interacting inhibitor of differentiation 2B											endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCAGTACGTCGCTGACGCCAC	0.706											OREG0025463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002olz.1		NA																	0					0						c.(85-87)AGC>AGT		EP300 interacting inhibitor of differentiation							11.0	13.0	13.0					19																	40023356		2161	4232	6393	SO:0001819	synonymous_variant	126272				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:40023356G>A	AK096263	CCDS12539.1	19q13.2	2008-02-05				ENSG00000176401			26796	protein-coding gene	gene with protein product						15970276	Standard	NM_152361		Approved	EID-3, FLJ38944	uc002olz.1	Q96D98		ENST00000326282.4:c.87C>T	19.37:g.40023356G>A			OREG0025463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	890		p.S29S	NM_152361	NP_689574	Q96D98	EID2B_HUMAN	Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	139	-	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		29						Silent	SNP	ENST00000326282.4	37	c.87C>T	CCDS12539.1																																																																																				0.706	EID2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464961.1	NM_152361		10	8	0	0	0	0	10	8				
GRIK5	2901	broad.mit.edu	37	19	42569484	42569484	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:42569484G>A	ENST00000262895.3	-	2	134	c.135C>T	c.(133-135)gcC>gcT	p.A45A	GRIK5_ENST00000593562.1_Silent_p.A45A|GRIK5_ENST00000301218.4_Silent_p.A45A	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	45					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				CCCGGGCCAAGGCCAAGGCCA	0.612																																						uc002osj.1		NA																	0					0						c.(133-135)GCC>GCT		glutamate receptor KA2 precursor	L-Glutamic Acid(DB00142)						65.0	59.0	61.0					19																	42569484		2203	4300	6503	SO:0001819	synonymous_variant	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42569484G>A		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.135C>T	19.37:g.42569484G>A						GRIK5_uc010eib.1_5'UTR	p.A45A	NM_002088	NP_002079	Q16478	GRIK5_HUMAN			2	170	-		Prostate(69;0.059)	45			Extracellular (Potential).		Q8WWG8	Silent	SNP	ENST00000262895.3	37	c.135C>T	CCDS12595.1																																																																																				0.612	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			14	34	0	0	0	0	14	34				
LILRB5	10990	broad.mit.edu	37	19	54758761	54758761	+	Silent	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:54758761C>G	ENST00000316219.5	-	6	1199	c.1092G>C	c.(1090-1092)ccG>ccC	p.P364P	LILRB5_ENST00000345866.6_Silent_p.P264P|LILRB5_ENST00000449561.2_Silent_p.P364P|LILRB5_ENST00000450632.1_Silent_p.P355P	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	364	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTAGACACAGCGGGGGATGGG	0.547																																						uc002qex.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1090-1092)CCG>CCC		leukocyte immunoglobulin-like receptor,							74.0	73.0	73.0					19																	54758761		2203	4300	6503	SO:0001819	synonymous_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54758761C>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1092G>C	19.37:g.54758761C>G						LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Silent_p.P355P|LILRB5_uc002qey.2_Silent_p.P364P|LILRB5_uc002qez.2_Silent_p.P264P|LILRB5_uc002qfa.1_Silent_p.P254P|LILRB5_uc010yes.1_RNA	p.P364P	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1203	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		364			Ig-like C2-type 4.|Extracellular (Potential).		Q8N760	Silent	SNP	ENST00000316219.5	37	c.1092G>C	CCDS12885.1																																																																																				0.547	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			36	21	0	0	0	0	36	21				
ZNF582	147948	broad.mit.edu	37	19	56901764	56901764	+	Missense_Mutation	SNP	T	T	C	rs375385104		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:56901764T>C	ENST00000301310.4	-	3	274	c.116A>G	c.(115-117)tAc>tGc	p.Y39C	AC006116.12_ENST00000589671.1_RNA|ZNF582_ENST00000586929.1_Missense_Mutation_p.Y39C	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	39	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		CAGGTTGCTGTAGGTCTCCAA	0.493																																					Ovarian(183;1887 2032 4349 30507 51343)	uc002qmz.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(115-117)TAC>TGC		zinc finger protein 582							191.0	157.0	169.0					19																	56901764		2203	4300	6503	SO:0001583	missense	147948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56901764T>C	AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.116A>G	19.37:g.56901764T>C	ENSP00000301310:p.Tyr39Cys					ZNF582_uc002qmy.2_Missense_Mutation_p.Y70C	p.Y39C	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN		GBM - Glioblastoma multiforme(193;0.0547)	3	275	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	39			KRAB.		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	37	c.116A>G	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.554005	0.27739	.	.	ENSG00000018869	ENST00000301310	T	0.02525	4.26	4.6	2.32	0.28847	Krueppel-associated box (4);	.	.	.	.	T	0.12774	0.0310	M	0.85099	2.735	0.09310	N	1	D;D	0.67145	0.993;0.996	D;D	0.64321	0.924;0.924	T	0.04708	-1.0932	9	0.87932	D	0	.	7.1124	0.25399	0.1516:0.0:0.1419:0.7064	.	39;70	Q96NG8;B4DQZ9	ZN582_HUMAN;.	C	39	ENSP00000301310:Y39C	ENSP00000301310:Y39C	Y	-	2	0	ZNF582	61593576	0.568000	0.26635	0.012000	0.15200	0.950000	0.60333	1.895000	0.39778	0.865000	0.35603	0.533000	0.62120	TAC		0.493	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2	NM_144690		42	74	0	0	0	0	42	74				
ZNF667	63934	broad.mit.edu	37	19	56953438	56953438	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:56953438G>T	ENST00000504904.3	-	7	1645	c.926C>A	c.(925-927)cCt>cAt	p.P309H	ZNF667_ENST00000342634.3_Missense_Mutation_p.P437H|ZNF667_ENST00000292069.6_Missense_Mutation_p.P309H|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	309					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CGCATTTTCAGGGATTTTCTC	0.328																																						uc002qnd.2		NA																	0				pancreas(1)	1						c.(925-927)CCT>CAT		zinc finger protein 667							94.0	98.0	97.0					19																	56953438		2203	4300	6503	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953438G>T		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.926C>A	19.37:g.56953438G>T	ENSP00000439402:p.Pro309His					ZNF667_uc010etl.2_Missense_Mutation_p.P91H|ZNF667_uc002qne.2_Missense_Mutation_p.P309H|ZNF667_uc010etm.2_Missense_Mutation_p.P252H	p.P309H	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	5	1088	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	309					B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.926C>A	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.387150	0.01194	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518	T;T;T	0.05382	3.45;3.49;3.49	4.8	-0.218	0.13142	.	1.489680	0.04194	N	0.328744	T	0.01627	0.0052	N	0.00462	-1.47	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39981	-0.9587	10	0.17832	T	0.49	0.1891	1.5308	0.02535	0.1342:0.1799:0.3825:0.3035	.	437;309	E7EPS0;Q5HYK9	.;ZN667_HUMAN	H	437;309;309;91	ENSP00000344699:P437H;ENSP00000439402:P309H;ENSP00000292069:P309H	ENSP00000292069:P309H	P	-	2	0	ZNF667	61645250	0.000000	0.05858	0.000000	0.03702	0.267000	0.26476	-0.286000	0.08399	-0.281000	0.09141	0.467000	0.42956	CCT		0.328	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		26	77	1	0	6.07e-21	2.05e-20	26	77				
PEG3	5178	broad.mit.edu	37	19	57335898	57335898	+	Silent	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:57335898A>T	ENST00000326441.9	-	4	489	c.126T>A	c.(124-126)tcT>tcA	p.S42S	ZIM2_ENST00000593931.1_5'Flank|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000594706.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.S42S|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	42					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAAAAAACTCAGAGTCAGTTG	0.483																																						uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(124-126)TCT>TCA		paternally expressed 3 isoform 1							75.0	76.0	75.0					19																	57335898		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57335898A>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.126T>A	19.37:g.57335898A>T						ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.S42S|PEG3_uc002qnv.2_Silent_p.S42S|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Silent_p.S42S	p.S42S	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	1	477	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	42					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.126T>A	CCDS12948.1																																																																																				0.483	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			17	58	0	0	0	0	17	58				
AURKC	6795	broad.mit.edu	37	19	57746416	57746416	+	Missense_Mutation	SNP	G	G	T	rs534798496		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:57746416G>T	ENST00000302804.7	+	6	935	c.749G>T	c.(748-750)cGc>cTc	p.R250L	AURKC_ENST00000599062.1_Missense_Mutation_p.R247L|AURKC_ENST00000598785.1_Missense_Mutation_p.R216L|AURKC_ENST00000415300.2_Missense_Mutation_p.R231L|AURKC_ENST00000448930.1_Missense_Mutation_p.R216L	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	250	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		ACTTACAGACGCATCCTCAAG	0.552																																						uc002qoe.2		NA																	0				lung(4)|ovary(2)	6						c.(748-750)CGC>CTC		aurora kinase C isoform 1							117.0	102.0	107.0					19																	57746416		2203	4300	6503	SO:0001583	missense	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57746416G>T		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.749G>T	19.37:g.57746416G>T	ENSP00000302898:p.Arg250Leu					AURKC_uc002qoc.2_Missense_Mutation_p.R231L|AURKC_uc002qod.2_Missense_Mutation_p.R216L|AURKC_uc010etv.2_Missense_Mutation_p.R247L	p.R250L	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	6	938	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	250			Protein kinase.		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	c.749G>T	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634976	0.67130	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.66099	-0.19;-0.19;-0.19	4.09	4.09	0.47781	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	0.85682	D	0.000000	T	0.45216	0.1331	N	0.11341	0.13	0.58432	D	0.999995	P;P;P	0.44690	0.841;0.656;0.772	B;B;B	0.41666	0.363;0.161;0.235	T	0.56481	-0.7972	10	0.66056	D	0.02	-13.5457	14.6448	0.68754	0.0:0.0:1.0:0.0	.	247;250;231	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	L	231;216;250	ENSP00000407162:R231L;ENSP00000406798:R216L;ENSP00000302898:R250L	ENSP00000302898:R250L	R	+	2	0	AURKC	62438228	0.991000	0.36638	0.998000	0.56505	0.941000	0.58515	3.296000	0.51802	2.576000	0.86940	0.655000	0.94253	CGC		0.552	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		11	48	1	0	4.69e-08	1.44e-07	11	48				
ZNF418	147686	broad.mit.edu	37	19	58437946	58437946	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:58437946C>T	ENST00000396147.1	-	4	1894	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000425570.3_Missense_Mutation_p.E556K|ZNF418_ENST00000595830.1_Missense_Mutation_p.E535K|ZNF418_ENST00000599852.1_Missense_Mutation_p.E450K	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	535					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TAAGGCCTTTCTCCAGTATGA	0.448																																						uc002qqs.1		NA																	0					0						c.(1603-1605)GAA>AAA		zinc finger protein 418							87.0	90.0	89.0					19																	58437946		2187	4297	6484	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58437946C>T	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1603G>A	19.37:g.58437946C>T	ENSP00000379451:p.Glu535Lys					ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.E450K	p.E535K	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	1895	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	535					Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.1603G>A	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	19.03	3.747214	0.69418	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.24350	1.86;1.86	2.41	-0.0149	0.13978	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19248	0.0462	L	0.49126	1.545	0.22240	N	0.99926	P	0.43314	0.803	B	0.37091	0.241	T	0.13124	-1.0521	9	0.66056	D	0.02	.	5.1817	0.15163	0.2123:0.6625:0.0:0.1251	.	535	Q8TF45	ZN418_HUMAN	K	535;556;501	ENSP00000379451:E535K;ENSP00000407039:E556K	ENSP00000379451:E535K	E	-	1	0	ZNF418	63129758	0.996000	0.38824	0.082000	0.20525	0.524000	0.34500	1.645000	0.37238	-0.068000	0.12953	0.313000	0.20887	GAA		0.448	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		15	51	0	0	0	0	15	51				
COLEC11	78989	broad.mit.edu	37	2	3691061	3691061	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:3691061G>A	ENST00000349077.4	+	6	459	c.356G>A	c.(355-357)cGc>cAc	p.R119H	COLEC11_ENST00000418971.2_Missense_Mutation_p.R133H|COLEC11_ENST00000403096.3_Missense_Mutation_p.R93H|COLEC11_ENST00000236693.7_Missense_Mutation_p.R116H|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000404205.1_Missense_Mutation_p.R45H|COLEC11_ENST00000402794.1_Missense_Mutation_p.R69H|COLEC11_ENST00000382062.2_Missense_Mutation_p.R95H|COLEC11_ENST00000402922.1_Missense_Mutation_p.R69H	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	119					developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.R133H(1)|p.R116H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		AGCCAGCTGCGCAAGGCCATC	0.637																																						uc002qya.2		NA																	2	Substitution - Missense(2)		endometrium(2)		0						c.(355-357)CGC>CAC		collectin sub-family member 11 isoform a							73.0	65.0	68.0					2																	3691061		2203	4300	6503	SO:0001583	missense	78989					collagen	mannose binding	g.chr2:3691061G>A	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.356G>A	2.37:g.3691061G>A	ENSP00000339168:p.Arg119His					COLEC11_uc002qxz.2_Missense_Mutation_p.R116H|COLEC11_uc002qyb.2_Missense_Mutation_p.R95H|COLEC11_uc002qyc.2_Missense_Mutation_p.R95H|COLEC11_uc010ewo.2_Missense_Mutation_p.R71H|COLEC11_uc010ewp.2_Missense_Mutation_p.R93H|COLEC11_uc010ewq.2_Missense_Mutation_p.R69H|COLEC11_uc010ewr.2_Missense_Mutation_p.R69H|COLEC11_uc010ews.2_Missense_Mutation_p.R45H	p.R119H	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	6	504	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		119			Potential.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Missense_Mutation	SNP	ENST00000349077.4	37	c.356G>A	CCDS1649.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479399	0.84747	.	.	ENSG00000118004	ENST00000382062;ENST00000236693;ENST00000349077;ENST00000418971;ENST00000403096;ENST00000402794;ENST00000404205;ENST00000402922	D;D;D;D;D;D;T;D	0.92858	-2.04;-1.77;-1.78;-1.78;-1.78;-3.12;3.28;-3.12	4.94	4.94	0.65067	C-type lectin-like (1);	0.000000	0.85682	D	0.000000	D	0.95290	0.8472	L	0.61218	1.895	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.997;0.999;0.999;0.993;0.999;0.999;0.994;0.987;0.996	D	0.95784	0.8819	10	0.72032	D	0.01	-20.4868	17.1378	0.86744	0.0:0.0:1.0:0.0	.	45;69;69;93;71;95;95;119;116	Q9BWP8-8;Q9BWP8-7;Q9BWP8-6;Q9BWP8-4;Q9BWP8-5;Q9BWP8-3;Q9BWP8-2;Q9BWP8;Q9BWP8-9	.;.;.;.;.;.;.;COL11_HUMAN;.	H	95;116;119;133;93;69;45;69	ENSP00000371494:R95H;ENSP00000236693:R116H;ENSP00000339168:R119H;ENSP00000411770:R133H;ENSP00000385130:R93H;ENSP00000384882:R69H;ENSP00000385827:R45H;ENSP00000385653:R69H	ENSP00000236693:R116H	R	+	2	0	COLEC11	3668936	1.000000	0.71417	0.739000	0.30968	0.504000	0.33889	9.420000	0.97426	2.254000	0.74563	0.460000	0.39030	CGC		0.637	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		34	56	0	0	0	0	34	56				
CYP1B1	1545	broad.mit.edu	37	2	38301665	38301665	+	Silent	SNP	G	G	A	rs375173625		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:38301665G>A	ENST00000260630.3	-	2	1268	c.867C>T	c.(865-867)ccC>ccT	p.P289P	CYP1B1_ENST00000494864.1_Intron|CYP1B1-AS1_ENST00000431999.1_RNA|CYP1B1_ENST00000407341.1_Silent_p.P289P|CYP1B1-AS1_ENST00000589303.1_RNA	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	289					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	TCATGTcgcggggggcggccc	0.622																																						uc002rqo.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(865-867)CCC>CCT		cytochrome P450, family 1, subfamily B,	Estrone(DB00655)						21.0	23.0	23.0					2																	38301665		2197	4296	6493	SO:0001819	synonymous_variant	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38301665G>A	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"""Cytochrome P450s"""	2597	protein-coding gene	gene with protein product		601771	"""cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"""	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.867C>T	2.37:g.38301665G>A							p.P289P	NM_000104	NP_000095	Q16678	CP1B1_HUMAN			3	1270	-		all_hematologic(82;0.21)	289					Q5TZW8|Q93089|Q9H316	Silent	SNP	ENST00000260630.3	37	c.867C>T	CCDS1793.1																																																																																				0.622	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104		19	9	0	0	0	0	19	9				
DCTN1	1639	broad.mit.edu	37	2	74607154	74607154	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:74607154C>A	ENST00000361874.3	-	1	328	c.11G>T	c.(10-12)aGc>aTc	p.S4I	DCTN1_ENST00000409240.1_Intron|DCTN1_ENST00000409567.3_Missense_Mutation_p.S4I|DCTN1_ENST00000409868.1_Intron|DCTN1_ENST00000394003.3_Missense_Mutation_p.S4I	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	4					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GTGCCTCTTGCTCTGTGCCAT	0.627																																						uc002skx.2		NA																	0				ovary(3)|skin(2)	5						c.(10-12)AGC>ATC		dynactin 1 isoform 1							124.0	104.0	111.0					2																	74607154		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74607154C>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.11G>T	2.37:g.74607154C>A	ENSP00000354791:p.Ser4Ile					DCTN1_uc002skw.1_5'Flank|DCTN1_uc010ffd.2_Missense_Mutation_p.S4I|DCTN1_uc002sky.2_Intron	p.S4I	NM_004082	NP_004073	Q14203	DCTN1_HUMAN			1	322	-			4					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.11G>T	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886842	0.51908	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000409567	T;T;T	0.75477	-0.94;-0.94;-0.94	5.1	4.23	0.50019	Cytoskeleton-associated protein, Gly-rich domain (1);	0.000000	0.51477	D	0.000092	T	0.53061	0.1773	N	0.08118	0	0.80722	D	1	B;B	0.18968	0.032;0.032	B;B	0.21546	0.035;0.035	T	0.52909	-0.8512	10	0.87932	D	0	-5.3766	7.1075	0.25372	0.0:0.7364:0.1726:0.0909	.	4;4	E9PGE1;Q14203	.;DCTN1_HUMAN	I	4	ENSP00000354791:S4I;ENSP00000377571:S4I;ENSP00000386843:S4I	ENSP00000354791:S4I	S	-	2	0	DCTN1	74460662	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.177000	0.42509	1.378000	0.46305	0.655000	0.94253	AGC		0.627	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		24	14	1	0	3.29e-13	1.06e-12	24	14				
LRRTM4	80059	broad.mit.edu	37	2	77745732	77745732	+	Silent	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:77745732T>C	ENST00000409093.1	-	3	1599	c.1263A>G	c.(1261-1263)tcA>tcG	p.S421S	LRRTM4_ENST00000409282.1_Silent_p.S422S|LRRTM4_ENST00000409911.1_Silent_p.S422S|LRRTM4_ENST00000409884.1_Silent_p.S421S|LRRTM4_ENST00000409088.3_Silent_p.S421S			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	421					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTTTGTGAAATGAAACATGCT	0.493																																						uc002snr.2		NA																	0				pancreas(3)|ovary(1)	4						c.(1261-1263)TCA>TCG		leucine rich repeat transmembrane neuronal 4							90.0	91.0	90.0					2																	77745732		1941	4139	6080	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77745732T>C	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1263A>G	2.37:g.77745732T>C						LRRTM4_uc002snq.2_Silent_p.S421S|LRRTM4_uc002sns.2_Silent_p.S421S|LRRTM4_uc002snt.2_Silent_p.S422S	p.S421S	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1678	-			421			Extracellular (Potential).		Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.1263A>G	CCDS46346.1																																																																																				0.493	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		45	83	0	0	0	0	45	83				
LRRTM4	80059	broad.mit.edu	37	2	77746588	77746588	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:77746588C>T	ENST00000409093.1	-	3	743	c.407G>A	c.(406-408)cGc>cAc	p.R136H	LRRTM4_ENST00000409282.1_Missense_Mutation_p.R137H|LRRTM4_ENST00000409911.1_Missense_Mutation_p.R137H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R136H|LRRTM4_ENST00000409088.3_Missense_Mutation_p.R136H			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	136					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTCCAGATTGCGGAGATTGGG	0.383																																						uc002snr.2		NA																	0				pancreas(3)|ovary(1)	4						c.(406-408)CGC>CAC		leucine rich repeat transmembrane neuronal 4							101.0	92.0	95.0					2																	77746588		1845	4087	5932	SO:0001583	missense	80059					integral to membrane		g.chr2:77746588C>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.407G>A	2.37:g.77746588C>T	ENSP00000386357:p.Arg136His					LRRTM4_uc002snq.2_Missense_Mutation_p.R136H|LRRTM4_uc002sns.2_Missense_Mutation_p.R136H|LRRTM4_uc002snt.2_Missense_Mutation_p.R137H	p.R136H	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	822	-			136			LRR 4.|Extracellular (Potential).		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.407G>A	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886860	0.72410	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.05199	3.48;3.48;3.48;3.48;3.48	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.20170	0.0485	L	0.45051	1.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.00076	-1.2118	10	0.56958	D	0.05	.	18.3331	0.90277	0.0:1.0:0.0:0.0	.	137;136;136	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	H	137;136;136;136;137	ENSP00000387228:R137H;ENSP00000387297:R136H;ENSP00000386357:R136H;ENSP00000386236:R136H;ENSP00000386286:R137H	ENSP00000386236:R136H	R	-	2	0	LRRTM4	77600096	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.674000	0.91012	0.655000	0.94253	CGC		0.383	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		48	43	0	0	0	0	48	43				
REG1B	5968	broad.mit.edu	37	2	79313964	79313964	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:79313964C>T	ENST00000305089.3	-	3	237	c.157G>A	c.(157-159)Gac>Aac	p.D53N		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	53	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GTCTCAGGGTCTTCATTAAAG	0.537																																						uc002sny.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(157-159)GAC>AAC		regenerating islet-derived 1 beta precursor							154.0	147.0	150.0					2																	79313964		2203	4300	6503	SO:0001583	missense	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79313964C>T		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.157G>A	2.37:g.79313964C>T	ENSP00000303206:p.Asp53Asn					REG1B_uc010ffv.1_Missense_Mutation_p.D53N|REG1B_uc010ffw.2_Missense_Mutation_p.D53N	p.D53N	NM_006507	NP_006498	P48304	REG1B_HUMAN			3	269	-			53			C-type lectin.			Missense_Mutation	SNP	ENST00000305089.3	37	c.157G>A	CCDS1963.1	.	.	.	.	.	.	.	.	.	.	c	15.47	2.844510	0.51164	.	.	ENSG00000172023	ENST00000454188;ENST00000305089	T;T	0.08282	3.11;3.11	3.74	-0.432	0.12291	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.851964	0.09762	N	0.759084	T	0.06690	0.0171	L	0.55103	1.725	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.17098	0.017;0.017	T	0.47315	-0.9127	10	0.15066	T	0.55	.	0.9446	0.01362	0.1852:0.415:0.1806:0.2191	.	53;53	Q6ICS1;P48304	.;REG1B_HUMAN	N	4;53	ENSP00000387410:D4N;ENSP00000303206:D53N	ENSP00000303206:D53N	D	-	1	0	REG1B	79167472	0.000000	0.05858	0.001000	0.08648	0.331000	0.28603	-1.569000	0.02142	-0.213000	0.10094	-0.310000	0.09108	GAC		0.537	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		29	184	0	0	0	0	29	184				
NPAS2	4862	broad.mit.edu	37	2	101607326	101607326	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:101607326G>A	ENST00000335681.5	+	19	2388	c.2103G>A	c.(2101-2103)cgG>cgA	p.R701R	AC016738.4_ENST00000452364.1_RNA|NPAS2_ENST00000542504.1_Silent_p.R766R	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	701					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGACGGGACGGCAAGTCAAGT	0.647																																						uc002tap.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(2101-2103)CGG>CGA		neuronal PAS domain protein 2							67.0	60.0	63.0					2																	101607326		2203	4300	6503	SO:0001819	synonymous_variant	4862				central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:101607326G>A	U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"""Basic helix-loop-helix proteins"""	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.2103G>A	2.37:g.101607326G>A						NPAS2_uc010yvt.1_Silent_p.R766R|NPAS2_uc010fit.1_Intron	p.R701R	NM_002518	NP_002509	Q99743	NPAS2_HUMAN			19	2389	+			701					Q4ZFV9|Q53SQ3|Q86V96|Q99629	Silent	SNP	ENST00000335681.5	37	c.2103G>A	CCDS2048.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461178	0.26248	.	.	ENSG00000170485	ENST00000433408	.	.	.	4.63	1.61	0.23674	.	.	.	.	.	T	0.43299	0.1241	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35151	-0.9800	4	.	.	.	.	1.6966	0.02863	0.2005:0.2689:0.3974:0.1332	.	.	.	.	T	200	.	.	A	+	1	0	NPAS2	100973758	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.661000	0.25023	1.074000	0.40909	0.462000	0.41574	GCA		0.647	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253168.3			38	12	0	0	0	0	38	12				
POTEF	728378	broad.mit.edu	37	2	130872899	130872899	+	Missense_Mutation	SNP	G	G	T	rs530744844	byFrequency	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:130872899G>T	ENST00000409914.2	-	4	923	c.524C>A	c.(523-525)aCt>aAt	p.T175N	POTEF_ENST00000360967.5_Missense_Mutation_p.T175N|POTEF_ENST00000357462.5_Missense_Mutation_p.T175N|POTEF_ENST00000361163.4_Missense_Mutation_p.T175N	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	175					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ATGTAGAGCAGTCCTATGAGA	0.418																																						uc010fmh.2		NA																	0				skin(3)|ovary(2)	5						c.(523-525)ACT>AAT		prostate, ovary, testis expressed protein on							61.0	63.0	62.0					2																	130872899		2155	4139	6294	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130872899G>T	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.524C>A	2.37:g.130872899G>T	ENSP00000386786:p.Thr175Asn						p.T175N	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			4	924	-			175			ANK 1.		A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.524C>A	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	12.34	1.909442	0.33721	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;D	0.86627	0.02;0.02;0.02;-2.15	1.13	1.13	0.20643	Ankyrin repeat-containing domain (4);	0.000000	0.49305	D	0.000159	D	0.90469	0.7015	M	0.79614	2.46	0.42739	D	0.993735	D	0.56287	0.975	D	0.65684	0.937	D	0.88773	0.3265	10	0.87932	D	0	.	5.7247	0.18006	0.0:0.0:1.0:0.0	.	175	A5A3E0	POTEF_HUMAN	N	175	ENSP00000350052:T175N;ENSP00000386786:T175N;ENSP00000354232:T175N;ENSP00000355012:T175N	ENSP00000350052:T175N	T	-	2	0	POTEF	130589369	1.000000	0.71417	0.214000	0.23707	0.307000	0.27823	4.646000	0.61411	0.940000	0.37473	0.152000	0.16155	ACT		0.418	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		30	96	1	0	4.43e-33	1.54e-32	30	96				
ZEB2	9839	broad.mit.edu	37	2	145147514	145147514	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:145147514G>C	ENST00000558170.2	-	10	4333	c.3149C>G	c.(3148-3150)tCg>tGg	p.S1050W	ZEB2_ENST00000303660.4_Missense_Mutation_p.S1050W|ZEB2_ENST00000539609.3_Missense_Mutation_p.S1026W|ZEB2_ENST00000409487.3_Missense_Mutation_p.S1050W	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1050					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTTCTCGCCCGAGTGAAGCCT	0.483																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	0				ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(3148-3150)TCG>TGG		zinc finger homeobox 1b							56.0	56.0	56.0					2																	145147514		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145147514G>C	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3149C>G	2.37:g.145147514G>C	ENSP00000454157:p.Ser1050Trp					ZEB2_uc002tvv.2_Missense_Mutation_p.S1044W|ZEB2_uc010zbm.1_Missense_Mutation_p.S1021W|ZEB2_uc010fnp.2_Intron	p.S1050W	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	10	3629	-			1050					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.3149C>G	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129533	0.77549	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.20069	2.1;2.1;2.1	5.61	5.61	0.85477	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.52435	0.1734	M	0.80332	2.49	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.97110	1.0;0.938;0.938	T	0.54728	-0.8250	10	0.87932	D	0	-6.0622	20.0018	0.97417	0.0:0.0:1.0:0.0	.	1026;1049;1050	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	W	1026;1050;1050	ENSP00000443792:S1026W;ENSP00000302501:S1050W;ENSP00000386854:S1050W	ENSP00000302501:S1050W	S	-	2	0	ZEB2	144863984	1.000000	0.71417	0.974000	0.42286	0.654000	0.38779	9.813000	0.99286	2.793000	0.96121	0.655000	0.94253	TCG		0.483	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		5	60	0	0	0	0	5	60				
TTN	7273	broad.mit.edu	37	2	179532239	179532239	+	Intron	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:179532239G>C	ENST00000591111.1	-	153	34489				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.P11881P|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACTTTCTTGGGTGGCTCAG	0.308																																						uc010zfk.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(163-165)CCC>CCG		SubName: Full=Titin; Flags: Fragment;							35.0	37.0	36.0					2																	179532239		875	1991	2866	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179532239G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34264+2705C>G	2.37:g.179532239G>C						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	p.P55P			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		7	713	-			11249					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.165C>G																																																																																					0.308	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	13	0	0	0	0	13	13				
TTN	7273	broad.mit.edu	37	2	179664292	179664292	+	Missense_Mutation	SNP	C	C	T	rs151174349		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:179664292C>T	ENST00000591111.1	-	6	1060	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	TTN_ENST00000342992.6_Missense_Mutation_p.R279Q|TTN_ENST00000460472.2_Missense_Mutation_p.R279Q|TTN_ENST00000359218.5_Missense_Mutation_p.R279Q|TTN_ENST00000342175.6_Missense_Mutation_p.R279Q|TTN_ENST00000589042.1_Missense_Mutation_p.R279Q|TTN_ENST00000360870.5_Missense_Mutation_p.R279Q			Q8WZ42	TITIN_HUMAN	titin	0	ZIS1.		R -> W (in HMERF; disrupts NBR1-binding). {ECO:0000269|PubMed:15802564}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R279L(6)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGACTGCTGCCGAGCCAGCTG	0.592																																						uc002und.2		NA																	6	Substitution - Missense(6)		lung(6)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(835-837)CGG>CAG		Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	94.0	90.0	92.0		836,836,836,836,836	5.7	1.0	2	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	279/26927,279/33424,279/5605,279/27052,279/27119	179664292	1,13005	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179664292C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.836G>A	2.37:g.179664292C>T	ENSP00000465570:p.Arg279Gln					TTN_uc010zfg.1_Missense_Mutation_p.R279Q|TTN_uc010zfh.1_Missense_Mutation_p.R279Q|TTN_uc010zfi.1_Missense_Mutation_p.R279Q|TTN_uc010zfj.1_Missense_Mutation_p.R279Q|TTN_uc002unb.2_Missense_Mutation_p.R279Q	p.R279Q			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		6	1061	-			279					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.836G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.150221	0.94645	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.72615	-0.67;-0.29;-0.33;-0.34;-0.23	5.71	5.71	0.89125	.	.	.	.	.	D	0.83533	0.5275	M	0.61703	1.905	0.36879	D	0.889316	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.992;0.992;0.992;0.992;0.999	D	0.86254	0.1651	9	0.87932	D	0	.	19.8442	0.96702	0.0:1.0:0.0:0.0	.	279;279;279;279;279	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	279	ENSP00000343764:R279Q;ENSP00000434586:R279Q;ENSP00000340554:R279Q;ENSP00000352154:R279Q;ENSP00000354117:R279Q	ENSP00000340554:R279Q	R	-	2	0	TTN	179372537	1.000000	0.71417	0.971000	0.41717	0.952000	0.60782	7.484000	0.81180	2.691000	0.91804	0.561000	0.74099	CGG		0.592	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	44	0	0	0	0	15	44				
FRZB	2487	broad.mit.edu	37	2	183699618	183699618	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:183699618C>A	ENST00000295113.4	-	6	1545	c.936G>T	c.(934-936)caG>caT	p.Q312H		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	312	Ser-rich.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TGCCAGACTTCTGACTCTGAG	0.413																																						uc002upa.1		NA																	0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(934-936)CAG>CAT		frizzled-related protein precursor							120.0	115.0	117.0					2																	183699618		2203	4300	6503	SO:0001583	missense	2487				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:183699618C>A	U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.936G>T	2.37:g.183699618C>A	ENSP00000295113:p.Gln312His						p.Q312H	NM_001463	NP_001454	Q92765	SFRP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)		6	1154	-			312			Ser-rich.		O00181|Q99686	Missense_Mutation	SNP	ENST00000295113.4	37	c.936G>T	CCDS2286.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.453925	0.43531	.	.	ENSG00000162998	ENST00000295113	T	0.73363	-0.74	5.7	5.7	0.88788	.	0.110671	0.41097	D	0.000957	T	0.56920	0.2018	L	0.27053	0.805	0.35458	D	0.796236	P	0.46277	0.875	B	0.34652	0.187	T	0.69323	-0.5175	10	0.49607	T	0.09	.	10.2803	0.43534	0.0:0.8545:0.0:0.1455	.	312	Q92765	SFRP3_HUMAN	H	312	ENSP00000295113:Q312H	ENSP00000295113:Q312H	Q	-	3	2	FRZB	183407863	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.712000	0.25779	2.705000	0.92388	0.650000	0.86243	CAG		0.413	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463		34	25	1	0	1.22e-08	3.79e-08	34	25				
AOX1	316	broad.mit.edu	37	2	201460091	201460091	+	Splice_Site	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:201460091G>A	ENST00000374700.2	+	3	441	c.200G>A	c.(199-201)aGg>aAg	p.R67K		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	67	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AAGAGGATAAGGTACCGTGCA	0.403																																						uc002uvx.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(199-201)AGG>AAG		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						90.0	74.0	80.0					2																	201460091		2203	4300	6503	SO:0001630	splice_region_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201460091G>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.200+1G>A	2.37:g.201460091G>A							p.R67K	NM_001159	NP_001150	Q06278	ADO_HUMAN			3	301	+			67			2Fe-2S ferredoxin-type.		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.200G>A	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247155	0.39697	.	.	ENSG00000138356	ENST00000374700;ENST00000454629	T;T	0.54675	1.87;0.56	5.64	4.76	0.60689	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.336884	0.31734	N	0.007158	T	0.42539	0.1207	L	0.41079	1.255	0.50467	D	0.999879	B	0.16166	0.016	B	0.26310	0.068	T	0.23726	-1.0180	10	0.12103	T	0.63	-19.8609	12.0281	0.53382	0.0:0.0:0.5766:0.4234	.	67	Q06278	ADO_HUMAN	K	67;42	ENSP00000363832:R67K;ENSP00000392485:R42K	ENSP00000363832:R67K	R	+	2	0	AOX1	201168336	0.991000	0.36638	1.000000	0.80357	0.511000	0.34104	0.551000	0.23361	1.609000	0.50190	0.650000	0.86243	AGG		0.403	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	Missense_Mutation	18	16	0	0	0	0	18	16				
ERBB4	2066	broad.mit.edu	37	2	212251600	212251600	+	Silent	SNP	A	A	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:212251600A>C	ENST00000342788.4	-	27	3769	c.3459T>G	c.(3457-3459)ccT>ccG	p.P1153P	ERBB4_ENST00000436443.1_Silent_p.P1137P|ERBB4_ENST00000402597.1_Silent_p.P1143P	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1153					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TGTCTCGCATAGGAGTCATGT	0.468										TSP Lung(8;0.080)																												uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(3457-3459)CCT>CCG		v-erb-a erythroblastic leukemia viral oncogene							178.0	165.0	170.0					2																	212251600		2203	4300	6503	SO:0001819	synonymous_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212251600A>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3459T>G	2.37:g.212251600A>C		TSP Lung(8;0.080)				ERBB4_uc002veh.1_Silent_p.P1137P|ERBB4_uc010zji.1_Silent_p.P1143P|ERBB4_uc010zjj.1_Silent_p.P1127P	p.P1153P	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	27	3557	-		Renal(323;0.06)|Lung NSC(271;0.197)	1153			Cytoplasmic (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.3459T>G	CCDS2394.1																																																																																				0.468	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		35	28	0	0	0	0	35	28				
ERBB4	2066	broad.mit.edu	37	2	212543814	212543814	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:212543814C>A	ENST00000342788.4	-	13	1895	c.1585G>T	c.(1585-1587)Gga>Tga	p.G529*	ERBB4_ENST00000436443.1_Nonsense_Mutation_p.G529*|ERBB4_ENST00000402597.1_Nonsense_Mutation_p.G529*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	529	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CAGATCCTTCCTCTACTGAAG	0.498										TSP Lung(8;0.080)																												uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(1585-1587)GGA>TGA		v-erb-a erythroblastic leukemia viral oncogene							76.0	66.0	69.0					2																	212543814		2203	4300	6503	SO:0001587	stop_gained	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212543814C>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1585G>T	2.37:g.212543814C>A	ENSP00000342235:p.Gly529*	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Nonsense_Mutation_p.G529*|ERBB4_uc010zji.1_Nonsense_Mutation_p.G529*|ERBB4_uc010zjj.1_Nonsense_Mutation_p.G529*|ERBB4_uc010fut.1_Nonsense_Mutation_p.G529*	p.G529*	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	13	1683	-		Renal(323;0.06)|Lung NSC(271;0.197)	529			Extracellular (Potential).|Cys-rich.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Nonsense_Mutation	SNP	ENST00000342788.4	37	c.1585G>T	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.733715|5.733715	0.96865|0.96865	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597	.|.	.|.	.|.	5.33|5.33	4.46|4.46	0.54185|0.54185	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.67618|.	0.2912|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.77169|.	-0.2686|.	3|.	.|0.62326	.|D	.|0.03	.|.	13.2211|13.2211	0.59887|0.59887	0.0:0.921:0.0:0.079|0.0:0.921:0.0:0.079	.|.	.|.	.|.	.|.	D|X	528|529	.|.	.|ENSP00000342235:G529X	E|G	-|-	3|1	2|0	ERBB4|ERBB4	212252059|212252059	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.483000|0.483000	0.33249|0.33249	5.482000|5.482000	0.66833|0.66833	1.247000|1.247000	0.43917|0.43917	0.591000|0.591000	0.81541|0.81541	GAG|GGA		0.498	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		8	22	1	0	0.000157383	0.000452033	8	22				
STK36	27148	broad.mit.edu	37	2	219553529	219553529	+	Missense_Mutation	SNP	G	G	C	rs150496187		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:219553529G>C	ENST00000295709.3	+	12	1769	c.1490G>C	c.(1489-1491)cGg>cCg	p.R497P	STK36_ENST00000440309.1_Missense_Mutation_p.R497P|STK36_ENST00000392106.2_Missense_Mutation_p.R497P|STK36_ENST00000392105.3_Missense_Mutation_p.R497P	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TCCTTCTGCCGGGAGGCAGGG	0.587																																						uc002viu.2		NA																	0				ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11						c.(1489-1491)CGG>CCG		serine/threonine kinase 36							101.0	93.0	96.0					2																	219553529		2203	4300	6503	SO:0001583	missense	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219553529G>C	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.1490G>C	2.37:g.219553529G>C	ENSP00000295709:p.Arg497Pro					STK36_uc002viv.2_Missense_Mutation_p.R497P	p.R497P	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	12	1756	+		Renal(207;0.0915)	497						Missense_Mutation	SNP	ENST00000295709.3	37	c.1490G>C	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308292	0.60305	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.69561	-0.41;-0.41;0.75;-0.41	5.38	1.63	0.23807	Armadillo-like helical (1);	0.164767	0.29080	N	0.013211	T	0.55481	0.1923	N	0.19112	0.55	0.26666	N	0.971812	P;P	0.46952	0.887;0.564	P;B	0.49683	0.619;0.222	T	0.51212	-0.8734	10	0.62326	D	0.03	-8.2413	7.6629	0.28413	0.4829:0.0:0.5171:0.0	.	497;497	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	P	497	ENSP00000295709:R497P;ENSP00000375955:R497P;ENSP00000375954:R497P;ENSP00000394095:R497P	ENSP00000295709:R497P	R	+	2	0	STK36	219261773	0.007000	0.16637	0.992000	0.48379	0.970000	0.65996	-0.064000	0.11636	0.118000	0.18165	-0.794000	0.03295	CGG		0.587	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			41	31	0	0	0	0	41	31				
SH3BP4	23677	broad.mit.edu	37	2	235950335	235950336	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr2:235950335_235950336GG>TT	ENST00000409212.1	+	4	1429_1430	c.922_923GG>TT	c.(922-924)GGt>TTt	p.G308F	SH3BP4_ENST00000392011.2_Missense_Mutation_p.G308F|SH3BP4_ENST00000344528.4_Missense_Mutation_p.G308F			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	308					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCAAAGCCCTGGTTGGGGCCAG	0.594																																						uc002vvp.2		NA																	0				skin(3)|ovary(1)	4						c.(922-924)GGT>TTT		SH3-domain binding protein 4																																				SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235950335_235950336GG>TT	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	Exception_encountered	2.37:g.235950335_235950336delinsTT	ENSP00000386862:p.Gly308Phe					SH3BP4_uc010fym.2_Missense_Mutation_p.G308F|SH3BP4_uc002vvq.2_Missense_Mutation_p.G308F	p.G308F	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	1315_1316	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	308					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	DNP	ENST00000409212.1	37	c.922_923GG>TT	CCDS2513.1																																																																																				0.594	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			19	47	0	0	0	0	19	47				
C20orf196	149840	broad.mit.edu	37	20	5753649	5753649	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr20:5753649G>A	ENST00000303142.6	+	2	225	c.138G>A	c.(136-138)ttG>ttA	p.L46L	C20orf196_ENST00000378979.4_Silent_p.L46L	NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	46										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						TCAGTTCTTTGGAATTCCATT	0.443																																						uc002wmf.2		NA																	0					0						c.(136-138)TTG>TTA		hypothetical protein LOC149840							154.0	148.0	150.0					20																	5753649		2203	4300	6503	SO:0001819	synonymous_variant	149840							g.chr20:5753649G>A	AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984			26318	protein-coding gene	gene with protein product						12477932	Standard	NM_152504		Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.138G>A	20.37:g.5753649G>A							p.L46L	NM_152504	NP_689717	Q8IYI0	CT196_HUMAN			2	225	+			46					A8K9J3|Q5TGA9|Q96LU1	Silent	SNP	ENST00000303142.6	37	c.138G>A	CCDS13091.1																																																																																				0.443	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077882.2	NM_152504		28	121	0	0	0	0	28	121				
CSTL1	128817	broad.mit.edu	37	20	23420933	23420933	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr20:23420933T>C	ENST00000246020.2	+	1	49	c.29T>C	c.(28-30)cTg>cCg	p.L10P	CSTL1_ENST00000347397.1_Missense_Mutation_p.L10P|CSTL1_ENST00000472140.1_3'UTR			Q9H114	CST1L_HUMAN	cystatin-like 1	10						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					AGAAACCCCCTGCTGCTGCTG	0.552																																						uc002wte.2		NA																	0					0						c.(28-30)CTG>CCG		cystatin-like 1 precursor							100.0	85.0	90.0					20																	23420933		2203	4300	6503	SO:0001583	missense	128817					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23420933T>C	AL096677	CCDS13153.1	20p11.21	2012-08-14			ENSG00000125823	ENSG00000125823			15958	protein-coding gene	gene with protein product						20565543	Standard	NM_138283		Approved	dJ322G13.4, CTES1	uc002wte.3	Q9H114	OTTHUMG00000032068	ENST00000246020.2:c.29T>C	20.37:g.23420933T>C	ENSP00000246020:p.Leu10Pro					CSTL1_uc010zsu.1_RNA|CSTL1_uc010zsv.1_RNA	p.L10P	NM_138283	NP_612140	Q9H114	CST1L_HUMAN			2	275	+	Colorectal(13;0.0993)|Lung NSC(19;0.235)		10					Q17RA8|Q64FF7	Missense_Mutation	SNP	ENST00000246020.2	37	c.29T>C	CCDS13153.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.461355	0.26248	.	.	ENSG00000125823	ENST00000347397;ENST00000246020	T;T	0.14144	2.53;2.53	4.23	3.09	0.35607	.	0.205903	0.24483	N	0.038127	T	0.19406	0.0466	L	0.32530	0.975	0.49051	D	0.999749	D	0.71674	0.998	P	0.60117	0.869	T	0.01287	-1.1395	10	0.87932	D	0	3.3325	7.7851	0.29087	0.0:0.0:0.2124:0.7876	.	10	Q9H114	CST1L_HUMAN	P	10	ENSP00000344907:L10P;ENSP00000246020:L10P	ENSP00000246020:L10P	L	+	2	0	CSTL1	23368933	0.766000	0.28496	0.637000	0.29366	0.019000	0.09904	1.531000	0.36018	0.924000	0.37069	0.533000	0.62120	CTG		0.552	CSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078328.1			18	51	0	0	0	0	18	51				
TOX2	84969	broad.mit.edu	37	20	42694723	42694723	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr20:42694723G>T	ENST00000358131.5	+	6	1486	c.1278G>T	c.(1276-1278)atG>atT	p.M426I	TOX2_ENST00000341197.4_Missense_Mutation_p.M444I|TOX2_ENST00000423191.2_Missense_Mutation_p.M402I|TOX2_ENST00000372999.1_Missense_Mutation_p.M402I|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	426	Pro-rich.				female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGCTGGCGATGAGCCCCTCAC	0.662																																						uc002xlf.3		NA																	0				ovary(1)	1						c.(1276-1278)ATG>ATT		TOX high mobility group box family member 2							12.0	14.0	13.0					20																	42694723		2160	4227	6387	SO:0001583	missense	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42694723G>T	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1278G>T	20.37:g.42694723G>T	ENSP00000350849:p.Met426Ile					TOX2_uc010ggo.2_Missense_Mutation_p.M444I|TOX2_uc002xle.3_Missense_Mutation_p.M402I|TOX2_uc010ggp.2_Missense_Mutation_p.M402I|TOX2_uc002xlg.2_Intron|TOX2_uc010zwk.1_Missense_Mutation_p.M322I	p.M426I	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	1295	+		Myeloproliferative disorder(115;0.00452)	426			Pro-rich.		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	ENST00000358131.5	37	c.1278G>T	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170511	0.38315	.	.	ENSG00000124191	ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	T;T;T;T;T	0.18502	2.91;2.91;2.91;2.21;2.68	5.29	4.33	0.51752	.	0.413188	0.24061	N	0.041916	T	0.29588	0.0738	L	0.50333	1.59	0.40540	D	0.981014	P;D;P;P	0.53745	0.851;0.962;0.936;0.936	P;D;P;P	0.66716	0.838;0.946;0.885;0.885	T	0.08513	-1.0718	10	0.02654	T	1	.	14.9162	0.70798	0.0:0.1444:0.8556:0.0	.	322;444;426;402	B4DQV8;G3XAC7;Q96NM4;E1P5X0	.;.;TOX2_HUMAN;.	I	444;402;402;426;322	ENSP00000344724:M444I;ENSP00000390278:M402I;ENSP00000362090:M402I;ENSP00000350849:M426I;ENSP00000396777:M322I	ENSP00000344724:M444I	M	+	3	0	TOX2	42128137	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.472000	0.35376	1.328000	0.45358	-0.274000	0.10170	ATG		0.662	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			5	19	1	0	0.000602214	0.00169567	5	19				
NCAM2	4685	broad.mit.edu	37	21	22838935	22838935	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr21:22838935G>T	ENST00000400546.1	+	13	1912	c.1663G>T	c.(1663-1665)Gtt>Ttt	p.V555F	NCAM2_ENST00000284894.7_Missense_Mutation_p.V413F	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	555	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGCAATGGTTGTTTTGAACAA	0.294																																						uc002yld.1		NA																	0				ovary(4)	4						c.(1663-1665)GTT>TTT		neural cell adhesion molecule 2 precursor							35.0	30.0	32.0					21																	22838935		1802	4063	5865	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22838935G>T		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1663G>T	21.37:g.22838935G>T	ENSP00000383392:p.Val555Phe					NCAM2_uc011acb.1_Missense_Mutation_p.V413F	p.V555F	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	13	1912	+		Lung NSC(9;0.195)	555			Fibronectin type-III 1.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.1663G>T	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806093	0.50421	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.58358	0.34;0.34	4.64	2.68	0.31781	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.184407	0.47093	D	0.000255	T	0.57770	0.2076	M	0.81341	2.54	0.80722	D	1	P;P	0.48911	0.917;0.917	P;B	0.47603	0.551;0.422	T	0.62511	-0.6839	10	0.62326	D	0.03	-17.2188	8.7451	0.34580	0.0868:0.1512:0.762:0.0	.	413;555	B7Z5K2;O15394	.;NCAM2_HUMAN	F	555;413	ENSP00000383392:V555F;ENSP00000284894:V413F	ENSP00000284894:V413F	V	+	1	0	NCAM2	21760806	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.837000	0.39201	1.084000	0.41184	-0.216000	0.12614	GTT		0.294	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		5	10	1	0	1.02e-07	3.13e-07	5	10				
KRTAP13-4	284827	broad.mit.edu	37	21	31803001	31803001	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr21:31803001C>A	ENST00000334068.2	+	1	430	c.408C>A	c.(406-408)taC>taA	p.Y136*		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	136						intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						ACCCAAACTACTTGGCTTCTG	0.458																																					NSCLC(196;2401 3038 18004 35753)	uc011acw.1		NA																	0					0						c.(406-408)TAC>TAA		keratin associated protein 13-4							98.0	93.0	95.0					21																	31803001		2203	4300	6503	SO:0001587	stop_gained	284827					intermediate filament		g.chr21:31803001C>A	AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"""Keratin associated proteins"""	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.408C>A	21.37:g.31803001C>A	ENSP00000334834:p.Tyr136*						p.Y136*	NM_181600	NP_853631	Q3LI77	KR134_HUMAN			1	408	+			136					A2RRL3	Nonsense_Mutation	SNP	ENST00000334068.2	37	c.408C>A	CCDS13592.1	.	.	.	.	.	.	.	.	.	.	-	12.97	2.098775	0.37048	.	.	ENSG00000186971	ENST00000334068	.	.	.	4.68	1.87	0.25490	.	0.162693	0.29034	N	0.013354	.	.	.	.	.	.	0.41835	D	0.990091	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0499	0.25067	0.0:0.705:0.0:0.295	.	.	.	.	X	136	.	ENSP00000334834:Y136X	Y	+	3	2	KRTAP13-4	30724872	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.070000	0.11523	0.267000	0.21916	0.650000	0.86243	TAC		0.458	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			38	26	1	0	9.86e-28	3.41e-27	38	26				
DIP2A	23181	broad.mit.edu	37	21	47971570	47971570	+	Missense_Mutation	SNP	G	G	T	rs555757363		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr21:47971570G>T	ENST00000417564.2	+	24	2884	c.2863G>T	c.(2863-2865)Gtg>Ttg	p.V955L	DIP2A_ENST00000427143.2_Missense_Mutation_p.V891L|DIP2A_ENST00000400274.1_Missense_Mutation_p.V951L|DIP2A_ENST00000318711.7_Missense_Mutation_p.V956L			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	955					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CTCAATGATCGTGGGGAACCT	0.507																																						uc002zjo.2		NA																	0				ovary(2)	2						c.(2863-2865)GTG>TTG		disco-interacting protein 2A isoform a							32.0	34.0	33.0					21																	47971570		1967	4180	6147	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47971570G>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2863G>T	21.37:g.47971570G>T	ENSP00000392066:p.Val955Leu					DIP2A_uc011afy.1_Missense_Mutation_p.V891L|DIP2A_uc011afz.1_Missense_Mutation_p.V951L	p.V955L	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	24	3046	+	Breast(49;0.0933)		955					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.2863G>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817663	0.71028	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000417564	T;T;T;T	0.25414	1.83;1.8;1.82;1.82	5.34	3.49	0.39957	.	0.000000	0.64402	D	0.000002	T	0.25306	0.0615	L	0.55990	1.75	0.58432	D	0.999999	B;B;B	0.32396	0.2;0.369;0.107	B;B;B	0.35278	0.053;0.199;0.111	T	0.04509	-1.0946	10	0.37606	T	0.19	-11.9063	10.5251	0.44943	0.0739:0.1322:0.7939:0.0	.	956;891;955	E9PER1;E7EMA5;Q14689	.;.;DIP2A_HUMAN	L	951;891;956;955	ENSP00000383133:V951L;ENSP00000400528:V891L;ENSP00000323633:V956L;ENSP00000392066:V955L	ENSP00000323633:V956L	V	+	1	0	DIP2A	46795998	1.000000	0.71417	0.269000	0.24586	0.899000	0.52679	5.486000	0.66856	1.220000	0.43490	0.655000	0.94253	GTG		0.507	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		14	13	1	0	1.05e-09	3.31e-09	14	13				
CECR2	27443	broad.mit.edu	37	22	18028225	18028225	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr22:18028225G>C	ENST00000400585.2	+	17	3194	c.2756G>C	c.(2755-2757)aGa>aCa	p.R919T	CECR2_ENST00000400573.5_Missense_Mutation_p.R1061T|CECR2_ENST00000262608.8_Missense_Mutation_p.R1062T			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1103					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CTCTGCCCCAGAGGCAGAACG	0.602																																						uc010gqw.1		NA																	0				ovary(1)|skin(1)	2						c.(3181-3183)AGA>ACA		cat eye syndrome chromosome region, candidate 2							29.0	34.0	33.0					22																	18028225		2159	4252	6411	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18028225G>C	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2756G>C	22.37:g.18028225G>C	ENSP00000383428:p.Arg919Thr					CECR2_uc010gqv.1_Missense_Mutation_p.R919T|CECR2_uc002zml.2_Missense_Mutation_p.R920T|CECR2_uc002zmo.2_RNA	p.R1061T	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	16	3308	+		all_epithelial(15;0.139)	1103					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.3182G>C		.	.	.	.	.	.	.	.	.	.	G	11.13	1.546701	0.27652	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.26223	1.87;1.87;1.75	4.26	3.22	0.36961	.	0.127393	0.35096	N	0.003454	T	0.19765	0.0475	L	0.57536	1.79	0.26250	N	0.978747	P;P;P	0.42827	0.791;0.791;0.791	B;B;B	0.35859	0.212;0.15;0.15	T	0.13522	-1.0506	10	0.36615	T	0.2	-8.9632	6.3176	0.21199	0.0988:0.0:0.7215:0.1797	.	1103;919;1061	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	T	919;1061;1062	ENSP00000383428:R919T;ENSP00000383417:R1061T;ENSP00000262608:R1062T	ENSP00000262608:R1062T	R	+	2	0	CECR2	16408225	0.597000	0.26874	0.995000	0.50966	0.601000	0.36947	1.811000	0.38942	1.089000	0.41292	0.561000	0.74099	AGA		0.602	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		6	22	0	0	0	0	6	22				
USP18	11274	broad.mit.edu	37	22	18650683	18650683	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr22:18650683G>A	ENST00000215794.7	+	6	937	c.507G>A	c.(505-507)acG>acA	p.T169T		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	169	USP.		T -> M (in dbSNP:rs3180408). {ECO:0000269|Ref.7}.		cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						CCCTGTATACGATCCGGGTGA	0.547																																						uc002zny.2		NA																	0				breast(1)	1						c.(505-507)ACG>ACA		ubiquitin specific protease 18							124.0	96.0	106.0					22																	18650683		2203	4300	6503	SO:0001819	synonymous_variant	11274				regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr22:18650683G>A	AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"""Ubiquitin-specific peptidases"""	12616	protein-coding gene	gene with protein product		607057	"""ubiquitin specific protease 18"""			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.507G>A	22.37:g.18650683G>A							p.T169T	NM_017414	NP_059110	Q9UMW8	UBP18_HUMAN			6	845	+			169					Q53Y90|Q6IAD9|Q9NY71	Silent	SNP	ENST00000215794.7	37	c.507G>A	CCDS13752.1																																																																																				0.547	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316368.1			35	37	0	0	0	0	35	37				
SCN10A	6336	broad.mit.edu	37	3	38835351	38835351	+	Missense_Mutation	SNP	G	G	A	rs368312678		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:38835351G>A	ENST00000449082.2	-	1	150	c.151C>T	c.(151-153)Cct>Tct	p.P51S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	51					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TGGGGCCGAGGCTTCTCTTCT	0.552																																						uc003ciq.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(151-153)CCT>TCT		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						160.0	165.0	163.0					3																	38835351		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38835351G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.151C>T	3.37:g.38835351G>A	ENSP00000390600:p.Pro51Ser						p.P51S	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	1	151	-			51					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.151C>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	1.290	-0.607807	0.03717	.	.	ENSG00000185313	ENST00000449082	D	0.96491	-4.03	5.05	-0.354	0.12591	.	0.936039	0.09103	N	0.848245	D	0.94450	0.8214	M	0.75615	2.305	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	D	0.86029	0.1512	10	0.66056	D	0.02	.	6.5562	0.22462	0.0675:0.098:0.5027:0.3319	.	51	Q9Y5Y9	SCNAA_HUMAN	S	51	ENSP00000390600:P51S	ENSP00000390600:P51S	P	-	1	0	SCN10A	38810355	0.004000	0.15560	0.073000	0.20177	0.008000	0.06430	1.438000	0.35002	-0.569000	0.06030	-2.928000	0.00088	CCT		0.552	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		55	18	0	0	0	0	55	18				
ZNF502	91392	broad.mit.edu	37	3	44763729	44763729	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:44763729C>T	ENST00000296091.4	+	4	1676	c.1420C>T	c.(1420-1422)Cat>Tat	p.H474Y	ZNF502_ENST00000449836.1_Missense_Mutation_p.H474Y|ZNF502_ENST00000436624.2_Missense_Mutation_p.H474Y	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	474					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)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		AGCCTTTGCTCATAGCTCATC	0.418																																						uc011baa.1		NA																	0					0						c.(1420-1422)CAT>TAT		zinc finger protein 502							75.0	76.0	76.0					3																	44763729		2203	4300	6503	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44763729C>T	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.1420C>T	3.37:g.44763729C>T	ENSP00000296091:p.His474Tyr					ZNF502_uc003cns.2_Missense_Mutation_p.H474Y|ZNF502_uc011bab.1_Missense_Mutation_p.H474Y|ZNF502_uc003cnt.2_Missense_Mutation_p.H474Y	p.H474Y	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	1675	+			474			C2H2-type 12.			Missense_Mutation	SNP	ENST00000296091.4	37	c.1420C>T	CCDS2719.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717203	0.30413	.	.	ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624	T;T;T	0.17854	2.25;2.25;2.25	4.42	4.42	0.53409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13670	0.0331	L	0.39147	1.195	0.09310	N	1	P	0.37176	0.586	B	0.37015	0.239	T	0.10314	-1.0635	9	0.11485	T	0.65	-8.0953	10.5722	0.45206	0.0:0.9056:0.0:0.0944	.	474	Q8TBZ5	ZN502_HUMAN	Y	474	ENSP00000397390:H474Y;ENSP00000296091:H474Y;ENSP00000406469:H474Y	ENSP00000296091:H474Y	H	+	1	0	ZNF502	44738733	0.000000	0.05858	0.983000	0.44433	0.913000	0.54294	-1.362000	0.02595	2.465000	0.83290	0.655000	0.94253	CAT		0.418	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	NM_033210		12	19	0	0	0	0	12	19				
MYH15	22989	broad.mit.edu	37	3	108211382	108211382	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:108211382A>T	ENST00000273353.3	-	10	952	c.896T>A	c.(895-897)tTc>tAc	p.F299Y		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	299	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AATTTGATAGAATATGTGGTA	0.373																																						uc003dxa.1		NA																	0				ovary(5)|central_nervous_system(2)	7						c.(895-897)TTC>TAC		myosin, heavy polypeptide 15							102.0	94.0	97.0					3																	108211382		1823	4090	5913	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108211382A>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.896T>A	3.37:g.108211382A>T	ENSP00000273353:p.Phe299Tyr						p.F299Y	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			10	953	-			299			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.896T>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.567740	0.45798	.	.	ENSG00000144821	ENST00000273353	D	0.84442	-1.85	4.65	4.65	0.58169	Myosin head, motor domain (2);	.	.	.	.	D	0.89945	0.6862	M	0.87900	2.915	0.42380	D	0.992488	B	0.16802	0.019	B	0.39465	0.3	D	0.89145	0.3519	9	0.49607	T	0.09	.	14.3689	0.66826	1.0:0.0:0.0:0.0	.	299	Q9Y2K3	MYH15_HUMAN	Y	299	ENSP00000273353:F299Y	ENSP00000273353:F299Y	F	-	2	0	MYH15	109694072	1.000000	0.71417	0.993000	0.49108	0.956000	0.61745	2.064000	0.41432	1.876000	0.54355	0.528000	0.53228	TTC		0.373	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		7	20	0	0	0	0	7	20				
PLOD2	5352	broad.mit.edu	37	3	145790383	145790383	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:145790383C>T	ENST00000360060.3	-	16	1927	c.1750G>A	c.(1750-1752)Gaa>Aaa	p.E584K	PLOD2_ENST00000494950.1_Missense_Mutation_p.E550K|PLOD2_ENST00000282903.5_Missense_Mutation_p.E605K|PLOD2_ENST00000461497.1_Missense_Mutation_p.E265K|RP11-274H2.2_ENST00000480247.1_RNA	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	584					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CCGTAATGTTCCATTTCTTCT	0.368																																						uc003evs.1		NA																	0				ovary(1)|skin(1)	2						c.(1750-1752)GAA>AAA		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Vitamin C(DB00126)						123.0	110.0	115.0					3																	145790383		2203	4300	6503	SO:0001583	missense	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr3:145790383C>T	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1750G>A	3.37:g.145790383C>T	ENSP00000353170:p.Glu584Lys					PLOD2_uc003evq.1_Missense_Mutation_p.E265K|PLOD2_uc011bnm.1_Missense_Mutation_p.E550K|PLOD2_uc003evr.1_Missense_Mutation_p.E605K	p.E584K	NM_000935	NP_000926	O00469	PLOD2_HUMAN			16	2256	-			584					B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	c.1750G>A	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	C	36	5.802427	0.96960	.	.	ENSG00000152952	ENST00000461497;ENST00000282903;ENST00000360060;ENST00000494950	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.92	5.92	0.95590	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.93291	0.7862	M	0.90198	3.095	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.989;0.999;1.0;0.999	D	0.93691	0.7007	10	0.87932	D	0	-41.61	20.3248	0.98698	0.0:1.0:0.0:0.0	.	550;584;605;265	E7ETU9;O00469;O00469-2;B3KWS3	.;PLOD2_HUMAN;.;.	K	265;605;584;550	ENSP00000419354:E265K;ENSP00000282903:E605K;ENSP00000353170:E584K;ENSP00000420094:E550K	ENSP00000282903:E605K	E	-	1	0	PLOD2	147273073	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.818000	0.86416	2.818000	0.97014	0.655000	0.94253	GAA		0.368	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1	NM_000935		14	53	0	0	0	0	14	53				
SI	6476	broad.mit.edu	37	3	164732915	164732915	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:164732915G>A	ENST00000264382.3	-	33	4057	c.3995C>T	c.(3994-3996)gCa>gTa	p.A1332V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1332	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TAGTACCTTTGCCCAACAAAT	0.323										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(3994-3996)GCA>GTA		sucrase-isomaltase	Acarbose(DB00284)						86.0	80.0	82.0					3																	164732915		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164732915G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3995C>T	3.37:g.164732915G>A	ENSP00000264382:p.Ala1332Val	HNSCC(35;0.089)					p.A1332V	NM_001041	NP_001032	P14410	SUIS_HUMAN			33	4057	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1332			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3995C>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955002	0.53293	.	.	ENSG00000090402	ENST00000264382	D	0.92858	-3.12	5.35	2.36	0.29203	Glycoside hydrolase, superfamily (1);	0.183407	0.47852	D	0.000214	D	0.91287	0.7253	M	0.68317	2.08	0.32288	N	0.566741	B	0.20052	0.041	B	0.27608	0.081	D	0.90772	0.4673	10	0.66056	D	0.02	.	16.7686	0.85531	0.0:0.5002:0.4998:0.0	.	1332	P14410	SUIS_HUMAN	V	1332	ENSP00000264382:A1332V	ENSP00000264382:A1332V	A	-	2	0	SI	166215609	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.638000	0.37165	0.765000	0.33221	0.591000	0.81541	GCA		0.323	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		12	31	0	0	0	0	12	31				
TNIK	23043	broad.mit.edu	37	3	170784416	170784416	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:170784416G>A	ENST00000436636.2	-	31	4152	c.3808C>T	c.(3808-3810)Cgg>Tgg	p.R1270W	TNIK_ENST00000538048.1_Missense_Mutation_p.R1222W|TNIK_ENST00000470834.1_Missense_Mutation_p.R1233W|TNIK_ENST00000357327.5_Missense_Mutation_p.R1241W|TNIK_ENST00000488470.1_Missense_Mutation_p.R1215W|TNIK_ENST00000284483.8_Missense_Mutation_p.R1262W|TNIK_ENST00000464785.1_5'Flank|TNIK_ENST00000369326.5_Missense_Mutation_p.R1248W|TNIK_ENST00000475336.1_Missense_Mutation_p.R1178W|TNIK_ENST00000341852.6_Missense_Mutation_p.R1186W|TNIK_ENST00000460047.1_Missense_Mutation_p.R1207W	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1270	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTAGTTATCCGGCCATAGGTG	0.458																																						uc003fhh.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(3808-3810)CGG>TGG		TRAF2 and NCK interacting kinase isoform 1							122.0	115.0	117.0					3																	170784416		1937	4145	6082	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170784416G>A	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3808C>T	3.37:g.170784416G>A	ENSP00000399511:p.Arg1270Trp					TNIK_uc003fhi.2_Missense_Mutation_p.R1215W|TNIK_uc003fhj.2_Missense_Mutation_p.R1241W|TNIK_uc003fhk.2_Missense_Mutation_p.R1262W|TNIK_uc003fhl.2_Missense_Mutation_p.R1186W|TNIK_uc003fhm.2_Missense_Mutation_p.R1207W|TNIK_uc003fhn.2_Missense_Mutation_p.R1233W|TNIK_uc003fho.2_Missense_Mutation_p.R1178W|TNIK_uc003fhg.2_Missense_Mutation_p.R448W|TNIK_uc003fhp.2_Missense_Mutation_p.R202W	p.R1270W	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		31	4153	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1270			CNH.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.3808C>T	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.760923	0.69763	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.04970	3.52;3.52;3.52;3.52;3.52;3.52;3.52;3.52;3.52;3.52	5.97	5.97	0.96955	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.23054	0.0557	L	0.49126	1.545	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.81914	0.992;0.992;0.988;0.995;0.992;0.992;0.988;0.995;0.995	T	0.00015	-1.2395	10	0.87932	D	0	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	1222;1178;1233;1207;1186;1262;1241;1215;1270	F5H5M9;Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;.;TNIK_HUMAN	W	1270;1248;1222;1186;1262;1178;1241;1207;1215;1233	ENSP00000399511:R1270W;ENSP00000358332:R1248W;ENSP00000443278:R1222W;ENSP00000345352:R1186W;ENSP00000284483:R1262W;ENSP00000418156:R1178W;ENSP00000349880:R1241W;ENSP00000418916:R1207W;ENSP00000418378:R1215W;ENSP00000419990:R1233W	ENSP00000284483:R1262W	R	-	1	2	TNIK	172267110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.488000	0.60300	2.836000	0.97738	0.655000	0.94253	CGG		0.458	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		11	99	0	0	0	0	11	99				
NLGN1	22871	broad.mit.edu	37	3	173322785	173322785	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:173322785G>T	ENST00000457714.1	+	3	826	c.397G>T	c.(397-399)Gtg>Ttg	p.V133L	NLGN1_ENST00000401917.3_Missense_Mutation_p.V133L|NLGN1_ENST00000545397.1_Missense_Mutation_p.V133L|NLGN1_ENST00000361589.4_Missense_Mutation_p.V133L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	133					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CATGCTTCCTGTGTGGTTTAC	0.433																																						uc003fio.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(397-399)GTG>TTG		neuroligin 1							161.0	157.0	159.0					3																	173322785		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173322785G>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.397G>T	3.37:g.173322785G>T	ENSP00000392500:p.Val133Leu					NLGN1_uc010hww.1_Missense_Mutation_p.V133L|NLGN1_uc003fip.1_Missense_Mutation_p.V133L	p.V133L	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		3	820	+	Ovarian(172;0.0025)		133			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.397G>T	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052172	0.55218	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000004	T	0.58177	0.2104	N	0.12961	0.28	0.80722	D	1	P;B	0.36712	0.566;0.323	B;B	0.42163	0.378;0.137	T	0.55761	-0.8090	10	0.30078	T	0.28	.	20.0185	0.97487	0.0:0.0:1.0:0.0	.	133;133	D2X2H5;Q8N2Q7-2	.;.	L	133	ENSP00000392500:V133L;ENSP00000354541:V133L;ENSP00000410374:V133L;ENSP00000441108:V133L;ENSP00000385750:V133L	ENSP00000354541:V133L	V	+	1	0	NLGN1	174805479	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.579000	0.82511	2.809000	0.96659	0.467000	0.42956	GTG		0.433	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		144	73	1	0	3.39e-80	1.19e-79	144	73				
NAALADL2	254827	broad.mit.edu	37	3	174814816	174814816	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:174814816A>G	ENST00000454872.1	+	2	408	c.280A>G	c.(280-282)Aaa>Gaa	p.K94E	NAALADL2-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	94						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AACTTCACCCAAAGGAAGGTT	0.433																																						uc003fit.2		NA																	0				pancreas(1)	1						c.(280-282)AAA>GAA		N-acetylated alpha-linked acidic dipeptidase 2							64.0	63.0	63.0					3																	174814816		1870	4104	5974	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:174814816A>G		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.280A>G	3.37:g.174814816A>G	ENSP00000404705:p.Lys94Glu					NAALADL2_uc003fiu.1_Missense_Mutation_p.K87E	p.K94E	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	2	367	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	94			Cytoplasmic (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.280A>G	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.904203	0.52333	.	.	ENSG00000177694	ENST00000434257;ENST00000454872	T;T	0.34859	1.34;1.35	5.72	5.72	0.89469	.	0.000000	0.56097	D	0.000021	T	0.47637	0.1456	L	0.27053	0.805	0.24962	N	0.991729	D;D	0.76494	0.999;0.999	D;D	0.69142	0.962;0.918	T	0.46034	-0.9220	10	0.87932	D	0	-25.9748	16.3035	0.82836	1.0:0.0:0.0:0.0	.	77;94	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	E	77;94	ENSP00000409858:K77E;ENSP00000404705:K94E	ENSP00000409858:K77E	K	+	1	0	NAALADL2	176297510	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.794000	0.62482	2.299000	0.77371	0.528000	0.53228	AAA		0.433	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		11	70	0	0	0	0	11	70				
ECE2	9718	broad.mit.edu	37	3	184002873	184002873	+	Silent	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr3:184002873C>A	ENST00000402825.3	+	9	1482	c.1482C>A	c.(1480-1482)ctC>ctA	p.L494L	ECE2_ENST00000359140.4_Silent_p.L347L|ECE2_ENST00000404464.3_Silent_p.L376L|ECE2_ENST00000357474.5_Silent_p.L422L|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	494	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGTCAGAGCTCATCAACCGCA	0.562											OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003fni.3		NA																	0				ovary(2)|skin(2)	4						c.(1480-1482)CTC>CTA		endothelin converting enzyme 2 isoform A							123.0	116.0	118.0					3																	184002873		2203	4300	6503	SO:0001819	synonymous_variant	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184002873C>A	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1482C>A	3.37:g.184002873C>A			OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1988	ECE2_uc011brh.1_Silent_p.L347L|ECE2_uc003fnl.3_Silent_p.L422L|ECE2_uc003fnm.3_Silent_p.L376L|ECE2_uc003fnk.3_Silent_p.L347L|ECE2_uc011bri.1_Silent_p.L409L|ECE2_uc010hxv.2_Silent_p.L138L	p.L494L	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1520	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		494			Lumenal (Potential).|Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	ENST00000402825.3	37	c.1482C>A	CCDS3256.2																																																																																				0.562	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		20	125	1	0	1.98e-07	6.04e-07	20	125				
CYTL1	54360	broad.mit.edu	37	4	5016894	5016894	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:5016894G>A	ENST00000307746.4	-	4	421	c.395C>T	c.(394-396)cCa>cTa	p.P132L		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	132					cartilage homeostasis (GO:1990079)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|inner ear development (GO:0048839)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CTGACGATCTGGCAGGACCGT	0.483																																					Colon(15;457 478 29696 43408 47165)	uc003gig.2		NA																	0				skin(1)	1						c.(394-396)CCA>CTA		cytokine-like 1 precursor							130.0	115.0	120.0					4																	5016894		2203	4300	6503	SO:0001583	missense	54360				signal transduction	extracellular space|soluble fraction	receptor binding	g.chr4:5016894G>A	AF193766	CCDS3379.1	4p16-p15	2007-08-01			ENSG00000170891	ENSG00000170891			24435	protein-coding gene	gene with protein product		607930				10857752	Standard	NM_018659		Approved	C17, C4orf4	uc003gig.3	Q9NRR1	OTTHUMG00000125479	ENST00000307746.4:c.395C>T	4.37:g.5016894G>A	ENSP00000303550:p.Pro132Leu						p.P132L	NM_018659	NP_061129	Q9NRR1	CYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	4	420	-			132						Missense_Mutation	SNP	ENST00000307746.4	37	c.395C>T	CCDS3379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.78|14.78	2.636219|2.636219	0.47049|0.47049	.|.	.|.	ENSG00000170891|ENSG00000170891	ENST00000307746|ENST00000509419	T|.	0.29917|.	1.55|.	4.4|4.4	2.4|2.4	0.29515|0.29515	.|.	1.049840|.	0.07453|.	N|.	0.899408|.	T|.	0.43897|.	0.1268|.	M|M	0.65975|0.65975	2.015|2.015	0.09310|0.09310	N|N	0.999999|0.999999	D|.	0.63046|.	0.992|.	P|.	0.57620|.	0.824|.	T|.	0.37314|.	-0.9711|.	10|.	0.66056|.	D|.	0.02|.	-15.2896|-15.2896	4.0312|4.0312	0.09710|0.09710	0.1263:0.0:0.6207:0.253|0.1263:0.0:0.6207:0.253	.|.	132|.	Q9NRR1|.	CYTL1_HUMAN|.	L|X	132|88	ENSP00000303550:P132L|.	ENSP00000303550:P132L|.	P|Q	-|-	2|1	0|0	CYTL1|CYTL1	5067795|5067795	0.011000|0.011000	0.17503|0.17503	0.041000|0.041000	0.18516|0.18516	0.044000|0.044000	0.14063|0.14063	1.329000|1.329000	0.33770|0.33770	1.987000|1.987000	0.57996|0.57996	0.511000|0.511000	0.50034|0.50034	CCA|CAG		0.483	CYTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246802.1	NM_018659		4	28	0	0	0	0	4	28				
LPHN3	23284	broad.mit.edu	37	4	62812754	62812754	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:62812754C>G	ENST00000514591.1	+	15	2667	c.2338C>G	c.(2338-2340)Cct>Gct	p.P780A	LPHN3_ENST00000511324.1_Missense_Mutation_p.P848A|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000512091.2_Missense_Mutation_p.P780A|LPHN3_ENST00000506700.1_Missense_Mutation_p.P780A|LPHN3_ENST00000514157.1_Missense_Mutation_p.P780A|LPHN3_ENST00000509896.1_Missense_Mutation_p.P848A|LPHN3_ENST00000507164.1_Missense_Mutation_p.P848A|LPHN3_ENST00000506746.1_Missense_Mutation_p.P848A|LPHN3_ENST00000507625.1_Missense_Mutation_p.P848A|LPHN3_ENST00000545650.1_Missense_Mutation_p.P780A|LPHN3_ENST00000508693.1_Missense_Mutation_p.P848A|LPHN3_ENST00000506720.1_Missense_Mutation_p.P848A|LPHN3_ENST00000508946.1_Missense_Mutation_p.P780A|LPHN3_ENST00000514996.1_Missense_Mutation_p.P780A|LPHN3_ENST00000504896.1_Missense_Mutation_p.P780A			Q9HAR2	LPHN3_HUMAN	latrophilin 3	767					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGTCAATTCCCCTGTTATTAC	0.383																																						uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2338-2340)CCT>GCT		latrophilin 3 precursor							191.0	179.0	183.0					4																	62812754		1884	4108	5992	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62812754C>G	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2338C>G	4.37:g.62812754C>G	ENSP00000422533:p.Pro780Ala					LPHN3_uc003hcq.3_Missense_Mutation_p.P780A|LPHN3_uc003hct.2_Missense_Mutation_p.P173A	p.P780A	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			13	2511	+			767			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2338C>G	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.820|6.820	0.520334|0.520334	0.13005|0.13005	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.12361|.	2.69;2.69;2.69;2.69;2.69;2.69;2.69;2.69;2.69;2.69;2.69;2.69;2.69;2.69;2.69|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Domain of unknown function DUF3497 (1);|.	0.055854|0.055854	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.68320|0.68320	0.2988|0.2988	L|L	0.44542|0.44542	1.39|1.39	0.47949|0.47949	D|D	0.99955|0.99955	B;B;B|.	0.20550|.	0.046;0.046;0.02|.	B;B;B|.	0.22601|.	0.04;0.04;0.016|.	T|T	0.63607|0.63607	-0.6599|-0.6599	10|6	0.45353|.	T|.	0.12|.	.|.	19.4278|19.4278	0.94751|0.94751	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	780;767;780|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	A|R	780;780;848;848;780;780;767;780;848;848;848;780;780;780;848;848;780|237	ENSP00000423388:P780A;ENSP00000422533:P780A;ENSP00000423787:P848A;ENSP00000425033:P848A;ENSP00000424120:P780A;ENSP00000439831:P780A;ENSP00000421476:P848A;ENSP00000424030:P848A;ENSP00000421372:P848A;ENSP00000425201:P780A;ENSP00000423434:P780A;ENSP00000421627:P780A;ENSP00000420931:P848A;ENSP00000425884:P848A;ENSP00000424258:P780A|.	ENSP00000280009:P780A|.	P|P	+|+	1|2	0|0	LPHN3|LPHN3	62495349|62495349	0.989000|0.989000	0.36119|0.36119	0.949000|0.949000	0.38748|0.38748	0.546000|0.546000	0.35178|0.35178	4.886000|4.886000	0.63149|0.63149	2.595000|2.595000	0.87683|0.87683	0.557000|0.557000	0.71058|0.71058	CCT|CCC		0.383	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			33	121	0	0	0	0	33	121				
UGT2B28	54490	broad.mit.edu	37	4	70156309	70156309	+	Splice_Site	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:70156309G>A	ENST00000335568.5	+	5	1092		c.e5-1		UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28						metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						TCCAATCCTAGGTCTTCCAAA	0.368																																						uc003hej.2		NA																	0				skin(1)	1						c.e5-1		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)						50.0	52.0	51.0					4																	70156309		2003	4186	6189	SO:0001630	splice_region_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70156309G>A	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1091-1G>A	4.37:g.70156309G>A						UGT2B28_uc010ihr.2_Intron	p.G364_splice	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			5	1093	+								B5BUM0|Q9BY62|Q9BY63	Splice_Site	SNP	ENST00000335568.5	37	c.1091_splice	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	.	6.195	0.404202	0.11754	.	.	ENSG00000135226	ENST00000335568	.	.	.	1.85	1.85	0.25348	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3109	0.37903	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UGT2B28	70190898	1.000000	0.71417	0.950000	0.38849	0.113000	0.19764	6.437000	0.73421	1.023000	0.39654	0.184000	0.17185	.		0.368	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039	Intron	29	59	0	0	0	0	29	59				
CSN2	1447	broad.mit.edu	37	4	70823387	70823388	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:70823387_70823388GG>TT	ENST00000353151.3	-	5	290_291	c.279_280CC>AA	c.(277-282)gtCCct>gtAAct	p.P94T		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						TCAGGCTGAGGGACAGGCAGCA	0.47																																						uc003hes.3		NA																	0					0						c.(277-282)GTCCCT>GTAACT		casein beta precursor																																				SO:0001583	missense	1447				calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	g.chr4:70823387_70823388GG>TT	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.279_280delinsTT	4.37:g.70823387_70823388delinsTT	ENSP00000341030:p.Pro94Thr					CSN2_uc003het.3_Missense_Mutation_p.P93T	p.P94T	NM_001891	NP_001882	P05814	CASB_HUMAN			5	292_293	-			94					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	DNP	ENST00000353151.3	37	c.279_280CC>AA	CCDS3532.1																																																																																				0.470	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1			13	63	0	0	0	0	13	63				
GRID2	2895	broad.mit.edu	37	4	94032099	94032099	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:94032099A>T	ENST00000282020.4	+	4	988	c.730A>T	c.(730-732)Act>Tct	p.T244S	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.T149S	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	244					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATCCTTCATTACTGAGGTAAG	0.408																																						uc011cdt.1		NA																	0				ovary(3)|skin(2)|large_intestine(1)	6						c.(730-732)ACT>TCT		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						77.0	73.0	75.0					4																	94032099		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94032099A>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.730A>T	4.37:g.94032099A>T	ENSP00000282020:p.Thr244Ser					GRID2_uc010ikx.2_Missense_Mutation_p.T244S|GRID2_uc011cdu.1_Missense_Mutation_p.T149S|GRID2_uc011cdv.1_RNA	p.T244S	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	4	988	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	244			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.730A>T	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	A	11.81	1.749451	0.30955	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	D;D	0.85702	-2.02;-2.02	5.5	5.5	0.81552	Extracellular ligand-binding receptor (1);	0.342066	0.29791	N	0.011193	T	0.73257	0.3564	N	0.14661	0.345	0.35557	D	0.80433	B;B;B	0.18013	0.001;0.0;0.025	B;B;B	0.16289	0.005;0.005;0.015	T	0.74578	-0.3619	10	0.45353	T	0.12	.	11.0284	0.47759	0.9272:0.0:0.0728:0.0	.	149;244;185	E9PH24;O43424;B4DYB9	.;GRID2_HUMAN;.	S	244;149	ENSP00000282020:T244S;ENSP00000421257:T149S	ENSP00000282020:T244S	T	+	1	0	GRID2	94251122	0.995000	0.38212	0.994000	0.49952	0.821000	0.46438	3.309000	0.51903	2.213000	0.71641	0.533000	0.62120	ACT		0.408	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			27	34	0	0	0	0	27	34				
UNC5C	8633	broad.mit.edu	37	4	96124103	96124103	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:96124103C>A	ENST00000453304.1	-	12	2263	c.1915G>T	c.(1915-1917)Gtc>Ttc	p.V639F		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	639					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCCTCCCCGACCACCACCACA	0.602																																						uc003htp.1		NA																	0				ovary(3)|pancreas(1)	4						c.(1915-1917)GTC>TTC		unc5C precursor							66.0	63.0	64.0					4																	96124103		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96124103C>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1915G>T	4.37:g.96124103C>A	ENSP00000406022:p.Val639Phe					UNC5C_uc010ilc.1_Missense_Mutation_p.V658F	p.V639F	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	12	2069	-		Hepatocellular(203;0.114)	639			Cytoplasmic (Potential).		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.1915G>T	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972682	0.74246	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796	T;T	0.59083	0.61;0.29	5.47	5.47	0.80525	.	0.059984	0.64402	D	0.000003	T	0.78059	0.4224	M	0.78801	2.425	0.80722	D	1	D;D	0.76494	0.968;0.999	P;D	0.80764	0.598;0.994	T	0.79718	-0.1686	10	0.72032	D	0.01	.	19.6995	0.96047	0.0:1.0:0.0:0.0	.	639;639	A8K385;O95185	.;UNC5C_HUMAN	F	639;598;658	ENSP00000406022:V639F;ENSP00000426924:V658F	ENSP00000328673:V598F	V	-	1	0	UNC5C	96343126	1.000000	0.71417	0.994000	0.49952	0.818000	0.46254	5.959000	0.70339	2.744000	0.94065	0.561000	0.74099	GTC		0.602	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		20	16	1	0	0.000132079	0.000381265	20	16				
ANK2	287	broad.mit.edu	37	4	114277887	114277887	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:114277887C>T	ENST00000357077.4	+	38	8166	c.8113C>T	c.(8113-8115)Cca>Tca	p.P2705S	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P2672S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2705					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAATTCCAGTCCAGAAGAAGT	0.423																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(8113-8115)CCA>TCA		ankyrin 2 isoform 1							96.0	99.0	98.0					4																	114277887		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114277887C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8113C>T	4.37:g.114277887C>T	ENSP00000349588:p.Pro2705Ser					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.P7S|ANK2_uc011cgb.1_Missense_Mutation_p.P2720S	p.P2705S	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	8213	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2672					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.8113C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575126	0.65878	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.69435	-0.39;-0.4	6.03	6.03	0.97812	.	0.000000	0.56097	D	0.000027	T	0.79429	0.4444	L	0.52364	1.645	0.80722	D	1	P;D	0.89917	0.787;1.0	B;D	0.87578	0.219;0.998	T	0.75274	-0.3375	9	.	.	.	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	2672;2705	Q01484;Q01484-4	ANK2_HUMAN;.	S	2705;2672	ENSP00000349588:P2705S;ENSP00000264366:P2672S	.	P	+	1	0	ANK2	114497336	0.993000	0.37304	0.962000	0.40283	0.906000	0.53458	3.969000	0.56816	2.861000	0.98227	0.655000	0.94253	CCA		0.423	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		47	40	0	0	0	0	47	40				
SYNPO2	171024	broad.mit.edu	37	4	119952081	119952081	+	Silent	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:119952081A>T	ENST00000429713.2	+	4	2333	c.2151A>T	c.(2149-2151)tcA>tcT	p.S717S	SYNPO2_ENST00000307142.4_Silent_p.S717S|SYNPO2_ENST00000434046.2_Silent_p.S717S|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	717						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTCAAAATTCAGAAGGCAAAC	0.493																																						uc003icm.3		NA																	0				ovary(2)	2						c.(2149-2151)TCA>TCT		synaptopodin 2 isoform b							63.0	68.0	67.0					4																	119952081		2203	4300	6503	SO:0001819	synonymous_variant	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119952081A>T	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2151A>T	4.37:g.119952081A>T						SYNPO2_uc010ina.2_Silent_p.S717S|SYNPO2_uc010inb.2_Silent_p.S717S|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Silent_p.S645S	p.S717S	NM_001128933	NP_001122405	Q9UMS6	SYNP2_HUMAN			4	2347	+			717					B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	ENST00000429713.2	37	c.2151A>T	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	A	8.413	0.844676	0.16963	.	.	ENSG00000172403	ENST00000504178	.	.	.	5.27	-3.45	0.04781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.9361	2.3081	0.04179	0.5398:0.1142:0.2358:0.1102	.	.	.	.	X	669	.	.	R	+	1	2	SYNPO2	120171529	0.871000	0.30034	0.969000	0.41365	0.993000	0.82548	0.519000	0.22862	-0.574000	0.05990	0.533000	0.62120	AGA		0.493	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			14	34	0	0	0	0	14	34				
PCDH10	57575	broad.mit.edu	37	4	134071332	134071332	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:134071332G>C	ENST00000264360.5	+	1	863	c.37G>C	c.(37-39)Gtg>Ctg	p.V13L	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	13					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCTCTGGATGGTGGAAGGAGT	0.517																																						uc003iha.2		NA																	0				ovary(2)	2						c.(37-39)GTG>CTG		protocadherin 10 isoform 1 precursor							130.0	125.0	126.0					4																	134071332		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071332G>C	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.37G>C	4.37:g.134071332G>C	ENSP00000264360:p.Val13Leu					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.V13L	p.V13L	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	863	+			13					Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.37G>C	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	0.485	-0.877936	0.02550	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.49432	0.78	4.91	4.91	0.64330	.	0.000000	0.40818	N	0.001004	T	0.19565	0.0470	N	0.01219	-0.95	0.26908	N	0.966952	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05533	-1.0879	10	0.10902	T	0.67	.	14.6816	0.69020	0.0:0.146:0.854:0.0	.	13;13	Q9P2E7;Q96SF0	PCD10_HUMAN;.	L	13	ENSP00000264360:V13L	ENSP00000264360:V13L	V	+	1	0	PCDH10	134290782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.995000	0.49441	2.550000	0.86006	0.555000	0.69702	GTG		0.517	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		28	103	0	0	0	0	28	103				
STOX2	56977	broad.mit.edu	37	4	184931953	184931953	+	Silent	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr4:184931953G>A	ENST00000308497.4	+	3	3397	c.1962G>A	c.(1960-1962)aaG>aaA	p.K654K	STOX2_ENST00000438269.1_Silent_p.K654K	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	654					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TGGGGCACAAGGAGGAGTCAC	0.637																																						uc003ivz.1		NA																	0					0						c.(1960-1962)AAG>AAA		storkhead box 2							11.0	12.0	12.0					4																	184931953		1859	4088	5947	SO:0001819	synonymous_variant	56977				embryo development|maternal placenta development			g.chr4:184931953G>A	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1962G>A	4.37:g.184931953G>A						STOX2_uc003iwa.1_Silent_p.K343K	p.K654K	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	3397	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	654					A6H8U4|Q9NPS8	Silent	SNP	ENST00000308497.4	37	c.1962G>A	CCDS47167.1																																																																																				0.637	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		8	10	0	0	0	0	8	10				
CDH10	1008	broad.mit.edu	37	5	24511543	24511543	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:24511543C>A	ENST00000264463.4	-	6	1402	c.895G>T	c.(895-897)Ggg>Tgg	p.G299W		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	299	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCATTTTTCCCAGTGTCAGCA	0.423										HNSCC(23;0.051)																												uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(895-897)GGG>TGG		cadherin 10, type 2 preproprotein							179.0	147.0	158.0					5																	24511543		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24511543C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.895G>T	5.37:g.24511543C>A	ENSP00000264463:p.Gly299Trp	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.G299W	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	6	1227	-			299			Cadherin 3.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.895G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553182	0.86127	.	.	ENSG00000040731	ENST00000264463	T	0.51574	0.7	5.22	5.22	0.72569	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.81645	0.4866	H	0.98388	4.22	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.89256	0.3594	10	0.87932	D	0	.	17.7511	0.88434	0.0:1.0:0.0:0.0	.	299	Q9Y6N8	CAD10_HUMAN	W	299	ENSP00000264463:G299W	ENSP00000264463:G299W	G	-	1	0	CDH10	24547300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.410000	0.81850	0.650000	0.86243	GGG		0.423	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		19	84	1	0	9.77e-05	0.000282605	19	84				
CDH9	1007	broad.mit.edu	37	5	26903856	26903856	+	Missense_Mutation	SNP	C	C	T	rs201758024		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:26903856C>T	ENST00000231021.4	-	6	1061	c.889G>A	c.(889-891)Gtg>Atg	p.V297M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	297	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTTCCCCCACGTCAGGGTCA	0.413													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15088	0.0		0.0	False		,,,				2504	0.0				Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(889-891)GTG>ATG		cadherin 9, type 2 preproprotein							235.0	205.0	215.0					5																	26903856		2203	4299	6502	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26903856C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.889G>A	5.37:g.26903856C>T	ENSP00000231021:p.Val297Met					CDH9_uc010iug.2_Missense_Mutation_p.V297M	p.V297M	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			6	1058	-			297			Cadherin 3.|Extracellular (Potential).		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.889G>A	CCDS3893.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.21	1.572623	0.28092	.	.	ENSG00000113100	ENST00000231021	T	0.51817	0.69	5.74	-3.56	0.04626	Cadherin (4);Cadherin-like (1);	0.950475	0.08845	N	0.885287	T	0.27241	0.0668	L	0.33293	1	0.09310	N	1	B	0.13594	0.008	B	0.21151	0.033	T	0.25984	-1.0116	9	.	.	.	.	0.4385	0.00483	0.3119:0.1643:0.2863:0.2374	.	297	Q9ULB4	CADH9_HUMAN	M	297	ENSP00000231021:V297M	.	V	-	1	0	CDH9	26939613	0.120000	0.22244	0.273000	0.24645	0.643000	0.38383	-0.122000	0.10627	-0.473000	0.06871	-0.188000	0.12872	GTG		0.413	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		35	126	0	0	0	0	35	126				
CDH6	1004	broad.mit.edu	37	5	31323131	31323131	+	Missense_Mutation	SNP	C	C	A	rs149310360		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:31323131C>A	ENST00000265071.2	+	12	2354	c.2089C>A	c.(2089-2091)Ctt>Att	p.L697I		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	697					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L697F(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCCCGAAGCCCTTTTCCTACC	0.522																																						uc003jhe.1		NA																	1	Substitution - Missense(1)	p.L697F(1)	skin(1)	ovary(4)|skin(2)|large_intestine(1)	7						c.(2089-2091)CTT>ATT		cadherin 6, type 2 preproprotein							87.0	81.0	83.0					5																	31323131		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31323131C>A	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2089C>A	5.37:g.31323131C>A	ENSP00000265071:p.Leu697Ile						p.L697I	NM_004932	NP_004923	P55285	CADH6_HUMAN			12	2415	+			697			Cytoplasmic (Potential).		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.2089C>A	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	4.649	0.120742	0.08881	.	.	ENSG00000113361	ENST00000265071	T	0.76709	-1.04	5.66	4.8	0.61643	Cadherin, cytoplasmic domain (1);	0.175631	0.49916	D	0.000132	T	0.70107	0.3186	L	0.38692	1.165	0.45867	D	0.99872	B	0.20052	0.041	B	0.29267	0.1	T	0.63866	-0.6540	10	0.16896	T	0.51	.	14.9714	0.71238	0.0:0.9314:0.0:0.0686	.	697	P55285	CADH6_HUMAN	I	697	ENSP00000265071:L697I	ENSP00000265071:L697I	L	+	1	0	CDH6	31358888	1.000000	0.71417	0.996000	0.52242	0.092000	0.18411	3.731000	0.55013	1.538000	0.49270	-0.140000	0.14226	CTT		0.522	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		26	41	1	0	1.25e-16	4.12e-16	26	41				
NIPBL	25836	broad.mit.edu	37	5	37052609	37052609	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:37052609A>G	ENST00000282516.8	+	42	7703	c.7204A>G	c.(7204-7206)Aac>Gac	p.N2402D	NIPBL_ENST00000448238.2_Missense_Mutation_p.N2402D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2402					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GATCCGTGGAAACCGCCAACA	0.413																																						uc003jkl.3		NA																	0				ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(7204-7206)AAC>GAC		delangin isoform A							96.0	98.0	97.0					5																	37052609		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37052609A>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7204A>G	5.37:g.37052609A>G	ENSP00000282516:p.Asn2402Asp					NIPBL_uc003jkk.3_Missense_Mutation_p.N2402D|NIPBL_uc003jkn.2_Missense_Mutation_p.N95D	p.N2402D	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		42	7703	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2402					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.7204A>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.049071	0.93740	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.96073	-3.9;-3.9	6.02	6.02	0.97574	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.96716	0.8928	M	0.64567	1.98	0.80722	D	1	P;P;P	0.42908	0.642;0.793;0.589	P;P;P	0.56916	0.753;0.809;0.639	D	0.96210	0.9152	10	0.41790	T	0.15	-13.4947	16.542	0.84395	1.0:0.0:0.0:0.0	.	2402;2402;2402	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	D	2402	ENSP00000282516:N2402D;ENSP00000406266:N2402D	ENSP00000282516:N2402D	N	+	1	0	NIPBL	37088366	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.932000	0.92897	2.304000	0.77564	0.528000	0.53228	AAC		0.413	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		19	47	0	0	0	0	19	47				
ITGA1	3672	broad.mit.edu	37	5	52211340	52211340	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:52211340A>T	ENST00000282588.6	+	15	2362	c.1904A>T	c.(1903-1905)cAg>cTg	p.Q635L		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	635					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTTTTTGGCCAGTCTATCCAC	0.418																																						uc003jou.2		NA																	0				ovary(2)|lung(1)	3						c.(1903-1905)CAG>CTG		integrin, alpha 1 precursor							176.0	177.0	177.0					5																	52211340		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52211340A>T	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1904A>T	5.37:g.52211340A>T	ENSP00000282588:p.Gln635Leu					ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.Q166L	p.Q635L	NM_181501	NP_852478	P56199	ITA1_HUMAN			15	1956	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	635			Extracellular (Potential).|FG-GAP 7.		B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.1904A>T	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.312514	0.81358	.	.	ENSG00000213949	ENST00000282588	T	0.55234	0.53	5.53	4.33	0.51752	.	0.055638	0.64402	N	0.000001	T	0.63390	0.2507	M	0.75150	2.29	0.80722	D	1	D	0.55605	0.972	P	0.57911	0.829	T	0.61898	-0.6968	10	0.13108	T	0.6	.	11.9436	0.52915	0.8697:0.0:0.0:0.1303	.	635	P56199	ITA1_HUMAN	L	635	ENSP00000282588:Q635L	ENSP00000282588:Q635L	Q	+	2	0	ITGA1	52247097	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.733000	0.68571	0.979000	0.38497	0.528000	0.53228	CAG		0.418	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		66	19	0	0	0	0	66	19				
RASGRF2	5924	broad.mit.edu	37	5	80366391	80366391	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:80366391G>T	ENST00000265080.4	+	4	691	c.624G>T	c.(622-624)aaG>aaT	p.K208N	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	208	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACATCAAGAAGATTAAAAAGG	0.473																																						uc003kha.1		NA																	0				breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.(622-624)AAG>AAT		Ras protein-specific guanine							114.0	119.0	117.0					5																	80366391		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80366391G>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.624G>T	5.37:g.80366391G>T	ENSP00000265080:p.Lys208Asn					RASGRF2_uc011ctn.1_RNA|RASGRF2_uc003khb.1_Missense_Mutation_p.K36N	p.K208N	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	4	624	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	208			IQ.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.624G>T	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962108	0.74016	.	.	ENSG00000113319	ENST00000265080	T	0.77877	-1.13	5.69	4.79	0.61399	.	.	.	.	.	D	0.82342	0.5016	L	0.58101	1.795	0.51233	D	0.999914	D;D	0.65815	0.991;0.995	D;P	0.63793	0.918;0.717	T	0.81614	-0.0853	9	0.45353	T	0.12	.	8.3787	0.32457	0.2421:0.0:0.7579:0.0	.	208;208	D6RAS9;O14827	.;RGRF2_HUMAN	N	208	ENSP00000265080:K208N	ENSP00000265080:K208N	K	+	3	2	RASGRF2	80402147	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.010000	0.40913	1.451000	0.47736	0.655000	0.94253	AAG		0.473	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		14	19	1	0	1.58e-08	4.92e-08	14	19				
MEF2C	4208	broad.mit.edu	37	5	88018719	88018719	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:88018719G>C	ENST00000437473.2	-	11	1541	c.1124C>G	c.(1123-1125)tCt>tGt	p.S375C	MEF2C_ENST00000514015.1_Intron|MEF2C_ENST00000340208.5_Missense_Mutation_p.S385C|MEF2C_ENST00000504921.2_Missense_Mutation_p.S375C|MEF2C_ENST00000510942.1_Missense_Mutation_p.S367C|MEF2C_ENST00000508569.1_Intron|MEF2C_ENST00000514028.1_Missense_Mutation_p.S375C|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000424173.2_Missense_Mutation_p.S365C|MEF2C_ENST00000539796.1_Missense_Mutation_p.S319C|MEF2C_ENST00000506554.1_Intron	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	375	Transcription repressor.				apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGAACTCTGAGATAAATGAGT	0.478										HNSCC(66;0.2)																												uc003kjj.2		NA																	0				lung(3)|breast(2)|ovary(1)|large_intestine(1)	7						c.(1123-1125)TCT>TGT		myocyte enhancer factor 2C isoform 1							72.0	71.0	71.0					5																	88018719		1917	4131	6048	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88018719G>C	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.1124C>G	5.37:g.88018719G>C	ENSP00000396219:p.Ser375Cys	HNSCC(66;0.2)				MEF2C_uc003kji.2_Missense_Mutation_p.S367C|MEF2C_uc003kjk.2_Missense_Mutation_p.S375C|MEF2C_uc003kjm.2_Missense_Mutation_p.S365C|MEF2C_uc003kjl.2_Missense_Mutation_p.S385C	p.S375C	NM_002397	NP_002388	Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	11	1797	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	375			Transcription repressor.		C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.1124C>G	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	G	8.837	0.941262	0.18281	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000539796	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.11;0.1;0.1;0.09;0.45	5.6	5.6	0.85130	.	0.241028	0.49305	D	0.000152	T	0.37210	0.0995	N	0.02296	-0.605	0.47778	D	0.999517	B;B;B;B	0.15930	0.015;0.0;0.0;0.0	B;B;B;B	0.18263	0.021;0.002;0.0;0.001	T	0.23013	-1.0200	10	0.41790	T	0.15	-4.5183	19.5926	0.95522	0.0:0.0:1.0:0.0	.	365;385;375;367	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	C	385;365;375;375;375;367;319	ENSP00000340874:S385C;ENSP00000389610:S365C;ENSP00000421925:S375C;ENSP00000426665:S375C;ENSP00000396219:S375C;ENSP00000422390:S367C;ENSP00000441153:S319C	ENSP00000340874:S385C	S	-	2	0	MEF2C	88054475	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.893000	0.75649	2.788000	0.95919	0.650000	0.86243	TCT		0.478	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		5	8	0	0	0	0	5	8				
FER	2241	broad.mit.edu	37	5	108523253	108523253	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:108523253A>G	ENST00000281092.4	+	20	2830	c.2446A>G	c.(2446-2448)Atc>Gtc	p.I816V	FER_ENST00000438717.2_Missense_Mutation_p.I641V	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	816	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AGAGCTCACTATCATCAAGAG	0.418																																					Colon(146;1051 1799 9836 27344 47401)	uc003kop.1		NA																	0				lung(2)|stomach(1)|ovary(1)|kidney(1)	5						c.(2446-2448)ATC>GTC		fer (fps/fes related) tyrosine kinase							73.0	71.0	72.0					5																	108523253		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108523253A>G	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.2446A>G	5.37:g.108523253A>G	ENSP00000281092:p.Ile816Val					FER_uc011cvg.1_Missense_Mutation_p.I641V	p.I816V	NM_005246	NP_005237	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	20	2830	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	816			Protein kinase.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.2446A>G	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	A	4.297	0.054391	0.08291	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.34275	1.37;1.37	5.98	-2.43	0.06522	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.328000	0.04759	N	0.425925	T	0.22820	0.0551	N	0.20986	0.625	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20438	-1.0275	10	0.29301	T	0.29	5.4622	6.7219	0.23334	0.337:0.0:0.5107:0.1523	.	816	P16591	FER_HUMAN	V	816;641	ENSP00000281092:I816V;ENSP00000394297:I641V	ENSP00000281092:I816V	I	+	1	0	FER	108551152	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-0.258000	0.08733	-0.461000	0.06993	-0.326000	0.08463	ATC		0.418	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		17	6	0	0	0	0	17	6				
ZNF608	57507	broad.mit.edu	37	5	124080436	124080436	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:124080436G>C	ENST00000306315.5	-	1	682	c.247C>G	c.(247-249)Cta>Gta	p.L83V	ZNF608_ENST00000504926.1_5'Flank	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	83							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCAAATTTTAGGCCATCAGCT	0.493																																						uc003ktq.1		NA																	0				skin(3)|ovary(2)|lung(1)	6						c.(247-249)CTA>GTA		zinc finger protein 608							95.0	89.0	91.0					5																	124080436		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:124080436G>C	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.247C>G	5.37:g.124080436G>C	ENSP00000307746:p.Leu83Val					ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_Missense_Mutation_p.L83V|ZNF608_uc003ktt.1_Missense_Mutation_p.L83V	p.L83V	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	1	370	-		all_cancers(142;0.186)|Prostate(80;0.081)	83					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.247C>G	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120659	0.37436	.	.	ENSG00000168916	ENST00000306315;ENST00000509799;ENST00000513986	T	0.44881	0.91	5.34	5.34	0.76211	.	0.000000	0.47852	D	0.000217	T	0.44329	0.1288	L	0.47716	1.5	0.49299	D	0.999779	P	0.41784	0.762	B	0.42555	0.391	T	0.36261	-0.9755	10	0.46703	T	0.11	-8.9132	19.0353	0.92974	0.0:0.0:1.0:0.0	.	83	Q9ULD9	ZN608_HUMAN	V	83	ENSP00000307746:L83V	ENSP00000307746:L83V	L	-	1	2	ZNF608	124108335	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.176000	0.50863	2.672000	0.90937	0.655000	0.94253	CTA		0.493	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		18	18	0	0	0	0	18	18				
PCDHB16	57717	broad.mit.edu	37	5	140563721	140563721	+	Silent	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:140563721C>T	ENST00000361016.2	+	1	2742	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	529	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTCGAGTTCCGCGTGAGCG	0.682																																						uc003liv.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1585-1587)TTC>TTT		protocadherin beta 16 precursor							38.0	40.0	39.0					5																	140563721		1845	3459	5304	SO:0001819	synonymous_variant	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563721C>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1587C>T	5.37:g.140563721C>T							p.F529F	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2742	+			529			Extracellular (Potential).|Cadherin 5.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.1587C>T	CCDS4251.1																																																																																				0.682	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		62	13	0	0	0	0	62	13				
DOCK2	1794	broad.mit.edu	37	5	169446055	169446055	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr5:169446055A>G	ENST00000256935.8	+	33	3404	c.3324A>G	c.(3322-3324)atA>atG	p.I1108M	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.I600M|DOCK2_ENST00000540750.1_Missense_Mutation_p.I169M	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1108	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGCCACCATACCAATCTTCT	0.453																																						uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(3322-3324)ATA>ATG		dedicator of cytokinesis 2							196.0	194.0	194.0					5																	169446055		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169446055A>G	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3324A>G	5.37:g.169446055A>G	ENSP00000256935:p.Ile1108Met					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.I600M	p.I1108M	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		33	3404	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1108			Interaction with CRKL.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.3324A>G	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	19.22	3.786287	0.70337	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.56103	0.48;0.48;0.48	4.8	-3.16	0.05217	.	0.000000	0.85682	D	0.000000	T	0.69006	0.3063	M	0.90977	3.165	0.40701	D	0.982484	D;D	0.67145	0.996;0.991	P;P	0.59703	0.862;0.77	T	0.75320	-0.3359	10	0.87932	D	0	.	11.4133	0.49937	0.1438:0.686:0.0:0.1702	.	600;1108	E7ERW7;Q92608	.;DOCK2_HUMAN	M	1108;600;169	ENSP00000256935:I1108M;ENSP00000429283:I600M;ENSP00000438827:I169M	ENSP00000256935:I1108M	I	+	3	3	DOCK2	169378633	0.921000	0.31238	0.994000	0.49952	0.997000	0.91878	0.111000	0.15458	-0.439000	0.07222	0.528000	0.53228	ATA		0.453	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		115	42	0	0	0	0	115	42				
F13A1	2162	broad.mit.edu	37	6	6266819	6266819	+	Silent	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:6266819C>T	ENST00000264870.3	-	4	808	c.543G>A	c.(541-543)acG>acA	p.T181T		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	181					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGAGAATGTACGTGTCTGTTT	0.453																																						uc003mwv.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.(541-543)ACG>ACA		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)						141.0	129.0	133.0					6																	6266819		2203	4300	6503	SO:0001819	synonymous_variant	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6266819C>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.543G>A	6.37:g.6266819C>T						F13A1_uc011dib.1_Silent_p.T118T	p.T181T	NM_000129	NP_000120	P00488	F13A_HUMAN			4	666	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	181					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	ENST00000264870.3	37	c.543G>A	CCDS4496.1																																																																																				0.453	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		23	70	0	0	0	0	23	70				
CPNE5	57699	broad.mit.edu	37	6	36767826	36767826	+	Missense_Mutation	SNP	C	C	T	rs148202375		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:36767826C>T	ENST00000244751.2	-	4	829	c.205G>A	c.(205-207)Gac>Aac	p.D69N		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	69	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGCGTGTTGTCGATGACTTCG	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		20397	0.0		0.001	False		,,,				2504	0.0					uc003omr.1		NA																	0				skin(1)	1						c.(205-207)GAC>AAC		copine V		C	ASN/ASP	0,4406		0,0,2203	78.0	67.0	71.0		205	5.2	1.0	6	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense	CPNE5	NM_020939.1	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	69/594	36767826	1,13005	2203	4300	6503	SO:0001583	missense	57699							g.chr6:36767826C>T	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.205G>A	6.37:g.36767826C>T	ENSP00000244751:p.Asp69Asn					CPNE5_uc003oms.1_Missense_Mutation_p.D31N	p.D69N	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN			4	272	-			69			C2 1.		Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	37	c.205G>A	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192892	0.38707	0.0	1.16E-4	ENSG00000124772	ENST00000244751	T	0.68903	-0.36	5.17	5.17	0.71159	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.61464	0.2349	L	0.31804	0.96	0.80722	D	1	D	0.58970	0.984	P	0.58780	0.845	T	0.62590	-0.6822	10	0.39692	T	0.17	.	16.1651	0.81747	0.0:1.0:0.0:0.0	.	69	Q9HCH3	CPNE5_HUMAN	N	69	ENSP00000244751:D69N	ENSP00000244751:D69N	D	-	1	0	CPNE5	36875804	1.000000	0.71417	0.978000	0.43139	0.003000	0.03518	7.528000	0.81941	2.397000	0.81536	0.561000	0.74099	GAC		0.562	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		8	27	0	0	0	0	8	27				
KCNK16	83795	broad.mit.edu	37	6	39285582	39285582	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:39285582C>A	ENST00000373229.5	-	3	488	c.475G>T	c.(475-477)Gac>Tac	p.D159Y	KCNK16_ENST00000507712.1_Missense_Mutation_p.D94Y|KCNK16_ENST00000425054.2_Missense_Mutation_p.D159Y|KCNK16_ENST00000437525.2_Missense_Mutation_p.D159Y|KCNK16_ENST00000373227.4_Missense_Mutation_p.D159Y	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	159					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CTGGGACGGTCCTCCCATCTT	0.587																																						uc003ooq.2		NA																	0				ovary(2)|skin(1)	3						c.(475-477)GAC>TAC		potassium channel, subfamily K, member 16							35.0	33.0	34.0					6																	39285582		2203	4300	6503	SO:0001583	missense	83795					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39285582C>A	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.475G>T	6.37:g.39285582C>A	ENSP00000362326:p.Asp159Tyr					KCNK16_uc003oor.3_Missense_Mutation_p.D159Y|KCNK16_uc010jwy.2_Missense_Mutation_p.D159Y|KCNK16_uc011dtz.1_Missense_Mutation_p.D159Y	p.D159Y	NM_032115	NP_115491	Q96T55	KCNKG_HUMAN			3	489	-			159			Cytoplasmic (Potential).		B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	c.475G>T	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338923	0.41398	.	.	ENSG00000095981	ENST00000373229;ENST00000425054;ENST00000507712;ENST00000373227;ENST00000437525	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.35	4.46	0.54185	.	0.818430	0.11505	N	0.557276	T	0.24774	0.0601	L	0.47716	1.5	0.33733	D	0.61841	B;B;P;B	0.40197	0.055;0.003;0.706;0.327	B;B;B;B	0.31495	0.021;0.002;0.131;0.069	T	0.21999	-1.0229	10	0.56958	D	0.05	.	12.2711	0.54706	0.0:0.5916:0.4084:0.0	.	159;159;159;159	B5TJL9;Q96T55-5;Q96T55-4;Q96T55	.;.;.;KCNKG_HUMAN	Y	159;159;94;159;159	ENSP00000362326:D159Y;ENSP00000391498:D159Y;ENSP00000423842:D94Y;ENSP00000362324:D159Y;ENSP00000415375:D159Y	ENSP00000362324:D159Y	D	-	1	0	KCNK16	39393560	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	1.476000	0.35420	2.499000	0.84300	0.561000	0.74099	GAC		0.587	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		11	8	1	0	1.59e-06	4.76e-06	11	8				
GPR116	221395	broad.mit.edu	37	6	46849211	46849211	+	Silent	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:46849211G>T	ENST00000283296.7	-	8	1083	c.795C>A	c.(793-795)tcC>tcA	p.S265S	GPR116_ENST00000362015.4_Silent_p.S265S|GPR116_ENST00000265417.7_Silent_p.S265S|GPR116_ENST00000456426.2_Silent_p.S265S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	265	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTGCTTGAAAGGAGTTGTAGT	0.353																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3		NA																	0				central_nervous_system(1)|skin(1)	2						c.(793-795)TCC>TCA		G-protein coupled receptor 116 precursor							352.0	279.0	304.0					6																	46849211		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46849211G>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.795C>A	6.37:g.46849211G>T						GPR116_uc003oyp.3_Silent_p.S265S|GPR116_uc003oyq.3_Silent_p.S265S|GPR116_uc010jzi.1_5'Flank|GPR116_uc003oyr.2_Silent_p.S265S	p.S265S	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		8	1084	-			265			SEA.|Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.795C>A	CCDS4919.1																																																																																				0.353	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		18	43	1	0	5.35e-07	1.62e-06	18	43				
REV3L	5980	broad.mit.edu	37	6	111689002	111689002	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:111689002A>T	ENST00000358835.3	-	15	6443	c.5989T>A	c.(5989-5991)Tgc>Agc	p.C1997S	REV3L_ENST00000368802.3_Missense_Mutation_p.C1997S|REV3L_ENST00000368805.1_Missense_Mutation_p.C1997S|REV3L_ENST00000435970.1_Missense_Mutation_p.C1919S			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1997					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCACATTTGCAAGGCATAATC	0.453								DNA polymerases (catalytic subunits)																														uc003puy.3		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(5989-5991)TGC>AGC	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							127.0	121.0	123.0					6																	111689002		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111689002A>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5989T>A	6.37:g.111689002A>T	ENSP00000351697:p.Cys1997Ser					REV3L_uc003pux.3_Missense_Mutation_p.C1919S|REV3L_uc003puz.3_Missense_Mutation_p.C1919S|REV3L_uc003pva.1_RNA	p.C1997S	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	14	6312	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1997					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.5989T>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	A	25.0	4.588717	0.86851	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.65	5.65	0.86999	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.62514	0.2434	L	0.56769	1.78	0.49798	D	0.999828	D	0.76494	0.999	D	0.80764	0.994	T	0.64305	-0.6439	10	0.51188	T	0.08	-3.1252	16.1778	0.81874	1.0:0.0:0.0:0.0	.	1997	O60673	DPOLZ_HUMAN	S	1997;1997;1997;1919;70	ENSP00000357792:C1997S;ENSP00000357795:C1997S;ENSP00000351697:C1997S;ENSP00000402003:C1919S	ENSP00000351697:C1997S	C	-	1	0	REV3L	111795695	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.619000	0.90938	2.279000	0.76181	0.533000	0.62120	TGC		0.453	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		27	63	0	0	0	0	27	63				
LAMA2	3908	broad.mit.edu	37	6	129670496	129670496	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:129670496G>A	ENST00000421865.2	+	31	4539	c.4490G>A	c.(4489-4491)tGt>tAt	p.C1497Y		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1497	Laminin EGF-like 16. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGCACGGCTTGTCCACGGGGA	0.433																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(4489-4491)TGT>TAT		laminin alpha 2 subunit isoform a precursor							118.0	112.0	114.0					6																	129670496		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129670496G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4490G>A	6.37:g.129670496G>A	ENSP00000400365:p.Cys1497Tyr					LAMA2_uc003qbo.2_Missense_Mutation_p.C1497Y	p.C1497Y	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	31	4595	+			1497			Laminin EGF-like 16.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4490G>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971996	0.74246	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	D	0.95171	-3.63	5.98	5.98	0.97165	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.98632	0.9542	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99139	1.0855	10	0.87932	D	0	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	1497;1497	A6NF00;P24043	.;LAMA2_HUMAN	Y	1497	ENSP00000400365:C1497Y	ENSP00000346769:C1497Y	C	+	2	0	LAMA2	129712189	1.000000	0.71417	0.770000	0.31555	0.363000	0.29612	7.123000	0.77176	2.838000	0.97847	0.591000	0.81541	TGT		0.433	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			20	35	0	0	0	0	20	35				
TMEM200A	114801	broad.mit.edu	37	6	130762658	130762658	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:130762658C>G	ENST00000296978.3	+	3	1962	c.1091C>G	c.(1090-1092)gCt>gGt	p.A364G	TMEM200A_ENST00000545622.1_Missense_Mutation_p.A364G|TMEM200A_ENST00000392429.1_Missense_Mutation_p.A364G	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	364						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCATCTATGGCTCTCGGACCT	0.527																																						uc003qca.2		NA																	0				ovary(1)	1						c.(1090-1092)GCT>GGT		transmembrane protein 200A							78.0	79.0	79.0					6																	130762658		2203	4300	6503	SO:0001583	missense	114801					integral to membrane		g.chr6:130762658C>G	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1091C>G	6.37:g.130762658C>G	ENSP00000296978:p.Ala364Gly					TMEM200A_uc010kfh.2_Missense_Mutation_p.A364G|TMEM200A_uc010kfi.2_Missense_Mutation_p.A364G|TMEM200A_uc003qcb.2_Missense_Mutation_p.A364G	p.A364G	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1962	+			364			Cytoplasmic (Potential).		Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.1091C>G	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	C	9.867	1.197889	0.22037	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.84	5.84	0.93424	.	0.195070	0.44285	D	0.000465	T	0.33585	0.0868	L	0.27053	0.805	0.37332	D	0.910001	B	0.27559	0.181	B	0.21708	0.036	T	0.13361	-1.0512	9	0.30078	T	0.28	-22.8856	20.1221	0.97964	0.0:1.0:0.0:0.0	.	364	Q86VY9	T200A_HUMAN	G	364	.	ENSP00000296978:A364G	A	+	2	0	TMEM200A	130804351	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	4.345000	0.59360	2.754000	0.94517	0.655000	0.94253	GCT		0.527	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		17	30	0	0	0	0	17	30				
EPB41L2	2037	broad.mit.edu	37	6	131277410	131277410	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:131277410C>A	ENST00000337057.3	-	2	397	c.216G>T	c.(214-216)agG>agT	p.R72S	EPB41L2_ENST00000525193.1_Missense_Mutation_p.R72S|EPB41L2_ENST00000527411.1_Missense_Mutation_p.R72S|EPB41L2_ENST00000527659.1_Missense_Mutation_p.R72S|EPB41L2_ENST00000445890.2_Missense_Mutation_p.R72S|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R72S|EPB41L2_ENST00000392427.3_Missense_Mutation_p.R72S|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000530481.1_Missense_Mutation_p.R72S|EPB41L2_ENST00000525271.1_Missense_Mutation_p.R72S|EPB41L2_ENST00000529208.1_Missense_Mutation_p.R72S|EPB41L2_ENST00000528282.1_Missense_Mutation_p.R72S	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	72					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GAGAAATACCCCTGCTCTCCG	0.498																																						uc003qch.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(214-216)AGG>AGT		erythrocyte membrane protein band 4.1-like 2							153.0	151.0	152.0					6																	131277410		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131277410C>A	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.216G>T	6.37:g.131277410C>A	ENSP00000338481:p.Arg72Ser					EPB41L2_uc003qcg.1_Missense_Mutation_p.R72S|EPB41L2_uc011eby.1_Missense_Mutation_p.R72S|EPB41L2_uc003qci.2_Missense_Mutation_p.R72S|EPB41L2_uc010kfk.2_Missense_Mutation_p.R72S|EPB41L2_uc010kfl.1_Missense_Mutation_p.R72S	p.R72S	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	2	398	-	Breast(56;0.0639)		72					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.216G>T	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607796	0.66558	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208;ENST00000529709;ENST00000532499;ENST00000526983;ENST00000531356;ENST00000530707	D;D;D;D;D;D;D;D;D;D;D;T;T;T;T;T	0.85556	-2.0;-1.96;-2.0;-2.0;-1.96;-2.0;-1.98;-1.96;-1.95;-1.96;-1.98;0.53;0.54;0.56;0.59;0.58	6.17	4.42	0.53409	.	0.000000	0.64402	D	0.000001	T	0.71945	0.3400	L	0.32530	0.975	0.37528	D	0.917822	P;P;P;P;P	0.49090	0.919;0.877;0.799;0.862;0.799	P;B;B;B;B	0.44647	0.456;0.417;0.323;0.37;0.162	T	0.76181	-0.3053	10	0.87932	D	0	.	11.3853	0.49782	0.0:0.8616:0.0:0.1384	.	72;72;72;72;72	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	S	72	ENSP00000434308:R72S;ENSP00000434576:R72S;ENSP00000402041:R72S;ENSP00000338481:R72S;ENSP00000376222:R72S;ENSP00000357110:R72S;ENSP00000436348:R72S;ENSP00000432803:R72S;ENSP00000431988:R72S;ENSP00000431647:R72S;ENSP00000436641:R72S;ENSP00000436871:R72S;ENSP00000432013:R72S;ENSP00000432329:R72S;ENSP00000436145:R72S;ENSP00000435556:R72S	ENSP00000338481:R72S	R	-	3	2	EPB41L2	131319103	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	1.328000	0.33758	0.955000	0.37878	0.655000	0.94253	AGG		0.498	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			35	70	1	0	3.76e-14	1.23e-13	35	70				
MOXD1	26002	broad.mit.edu	37	6	132619016	132619016	+	Missense_Mutation	SNP	C	C	G	rs140134245		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:132619016C>G	ENST00000367963.3	-	11	1705	c.1587G>C	c.(1585-1587)tgG>tgC	p.W529C	MOXD1_ENST00000336749.3_Missense_Mutation_p.W461C	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	529						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CCTTTTTAGTCCATTTAAACT	0.403																																						uc003qdf.2		NA																	0				ovary(1)	1						c.(1585-1587)TGG>TGC		monooxygenase, DBH-like 1 isoform 2							114.0	105.0	108.0					6																	132619016		2203	4300	6503	SO:0001583	missense	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132619016C>G	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1587G>C	6.37:g.132619016C>G	ENSP00000356940:p.Trp529Cys					MOXD1_uc003qde.2_Missense_Mutation_p.W461C	p.W529C	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	11	1686	-	Breast(56;0.0495)		529			Lumenal (Potential).		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	ENST00000367963.3	37	c.1587G>C	CCDS5152.2	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826238	0.71143	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.68479	-0.33;-0.31	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.80215	0.4582	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.80756	-0.1240	10	0.87932	D	0	-12.6999	18.8014	0.92018	0.0:1.0:0.0:0.0	.	529;461	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	C	529;461	ENSP00000356940:W529C;ENSP00000336998:W461C	ENSP00000336998:W461C	W	-	3	0	MOXD1	132660709	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.628000	0.67791	2.882000	0.98803	0.655000	0.94253	TGG		0.403	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		14	28	0	0	0	0	14	28				
HEBP2	23593	broad.mit.edu	37	6	138734184	138734184	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:138734184A>C	ENST00000607197.1	+	4	864	c.587A>C	c.(586-588)cAa>cCa	p.Q196P	HEBP2_ENST00000448741.1_3'UTR|HEBP2_ENST00000367697.3_3'UTR	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	196					negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of necrotic cell death (GO:0010940)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)		p.N198fs*2(1)		endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		TGGTTGATTCAAAAAAATGAA	0.363																																						uc003qhw.1		NA																	1	Insertion - Frameshift(1)		lung(1)		0						c.(586-588)CAA>CCA		heme binding protein 2							86.0	90.0	89.0					6																	138734184		2203	4300	6503	SO:0001583	missense	23593					mitochondrion		g.chr6:138734184A>C	AF117616	CCDS5191.1	6q24	2008-08-29	2002-09-23	2002-09-27	ENSG00000051620	ENSG00000051620			15716	protein-coding gene	gene with protein product		605825	"""chromosome 6 open reading frame 34"""	C6orf34		10640688, 17098234	Standard	NM_014320		Approved	SOUL	uc003qhw.1	Q9Y5Z4	OTTHUMG00000015671	ENST00000607197.1:c.587A>C	6.37:g.138734184A>C	ENSP00000475750:p.Gln196Pro						p.Q196P	NM_014320	NP_055135	Q9Y5Z4	HEBP2_HUMAN		GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)	4	884	+	Breast(32;0.0933)		196					Q96P57	Missense_Mutation	SNP	ENST00000607197.1	37	c.587A>C	CCDS5191.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217217	0.39201	.	.	ENSG00000051620	ENST00000058691	T	0.21932	1.98	5.6	5.6	0.85130	Regulatory factor, effector, bacterial (1);	0.381500	0.30667	N	0.009122	T	0.11281	0.0275	L	0.42245	1.32	0.80722	D	1	P	0.40515	0.719	B	0.40677	0.337	T	0.05954	-1.0854	10	0.30078	T	0.28	.	13.3078	0.60363	1.0:0.0:0.0:0.0	.	196	Q9Y5Z4	HEBP2_HUMAN	P	196	ENSP00000058691:Q196P	ENSP00000058691:Q196P	Q	+	2	0	HEBP2	138775877	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.301000	0.51842	2.133000	0.65898	0.460000	0.39030	CAA		0.363	HEBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042426.2			43	48	0	0	0	0	43	48				
HIVEP2	3097	broad.mit.edu	37	6	143095631	143095631	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr6:143095631T>G	ENST00000367604.1	-	4	884	c.245A>C	c.(244-246)aAg>aCg	p.K82T	HIVEP2_ENST00000367603.2_Missense_Mutation_p.K82T|HIVEP2_ENST00000012134.2_Missense_Mutation_p.K82T			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	82					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(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGGATATTGCTTCTCTGCGAC	0.527																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(244-246)AAG>ACG		human immunodeficiency virus type I enhancer							169.0	177.0	174.0					6																	143095631		2150	4252	6402	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143095631T>G	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.245A>C	6.37:g.143095631T>G	ENSP00000356576:p.Lys82Thr						p.K82T	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	988	-			82					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.245A>C	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.977445	0.53720	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02579	4.24;4.24;4.24	5.53	4.35	0.52113	.	0.099768	0.64402	D	0.000001	T	0.03915	0.0110	L	0.57536	1.79	0.33304	D	0.565243	D	0.59357	0.985	P	0.55508	0.777	T	0.24584	-1.0156	10	0.51188	T	0.08	-9.5264	12.6262	0.56630	0.0:0.0:0.1386:0.8614	.	82	P31629	ZEP2_HUMAN	T	82	ENSP00000356576:K82T;ENSP00000356575:K82T;ENSP00000012134:K82T	ENSP00000012134:K82T	K	-	2	0	HIVEP2	143137324	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.142000	0.42177	0.903000	0.36546	0.528000	0.53228	AAG		0.527	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			36	66	0	0	0	0	36	66				
COL28A1	340267	broad.mit.edu	37	7	7412808	7412808	+	Missense_Mutation	SNP	C	C	T	rs182575990	byFrequency	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:7412808C>T	ENST00000399429.3	-	32	2869	c.2729G>A	c.(2728-2730)cGt>cAt	p.R910H		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	910	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTCTTTATCACGAGAATCTGT	0.453													C|||	5	0.000998403	0.0	0.0	5008	,	,		21249	0.004		0.001	False		,,,				2504	0.0					uc003src.1		NA																	0				skin(3)	3						c.(2728-2730)CGT>CAT		collagen, type XXVIII precursor		C	HIS/ARG	0,3870		0,0,1935	97.0	92.0	93.0		2729	0.4	0.4	7		93	4,8256		0,4,4126	yes	missense	COL28A1	NM_001037763.2	29	0,4,6061	TT,TC,CC		0.0484,0.0,0.033	probably-damaging	910/1126	7412808	4,12126	1935	4130	6065	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7412808C>T	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2729G>A	7.37:g.7412808C>T	ENSP00000382356:p.Arg910His					COL28A1_uc011jxe.1_Missense_Mutation_p.R593H	p.R910H	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	32	2846	-		Ovarian(82;0.0789)	910			VWFA 2.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.2729G>A	CCDS43553.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	15.58	2.876462	0.51801	0.0	4.84E-4	ENSG00000215018	ENST00000399429	T	0.78246	-1.16	4.09	0.407	0.16371	von Willebrand factor, type A (3);	0.095709	0.40302	U	0.001130	D	0.82701	0.5094	M	0.73217	2.22	0.43355	D	0.99542	D	0.89917	1.0	D	0.91635	0.999	T	0.77910	-0.2411	10	0.16420	T	0.52	-4.4705	9.4765	0.38875	0.0:0.7234:0.0:0.2766	.	910	Q2UY09	COSA1_HUMAN	H	910	ENSP00000382356:R910H	ENSP00000382356:R910H	R	-	2	0	COL28A1	7379333	0.182000	0.23173	0.425000	0.26659	0.524000	0.34500	2.181000	0.42547	0.049000	0.15920	-0.140000	0.14226	CGT		0.453	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		17	37	0	0	0	0	17	37				
PTPN12	5782	broad.mit.edu	37	7	77212881	77212881	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:77212881G>A	ENST00000248594.6	+	4	567	c.295G>A	c.(295-297)Ggg>Agg	p.G99R	PTPN12_ENST00000435495.2_Intron|PTPN12_ENST00000415482.2_5'UTR	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	99	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GGGCGTCTATGGGCCAAAAGC	0.299																																						uc003ugh.2		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(295-297)GGG>AGG		protein tyrosine phosphatase, non-receptor type							108.0	107.0	108.0					7																	77212881		2203	4299	6502	SO:0001583	missense	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77212881G>A		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.295G>A	7.37:g.77212881G>A	ENSP00000248594:p.Gly99Arg					PTPN12_uc011kgp.1_5'UTR|PTPN12_uc011kgq.1_Intron|PTPN12_uc010ldq.1_RNA|PTPN12_uc010ldr.1_Intron	p.G99R	NM_002835	NP_002826	Q05209	PTN12_HUMAN			4	386	+			99			Tyrosine-protein phosphatase.		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.295G>A	CCDS5592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.78|16.78	3.217367|3.217367	0.58560|0.58560	.|.	.|.	ENSG00000127947|ENSG00000127947	ENST00000248594|ENST00000522115	D|.	0.83163|.	-1.69|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Protein-tyrosine phosphatase, receptor/non-receptor type (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65903|0.65903	0.2736|0.2736	L|L	0.37561|0.37561	1.115|1.115	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79108|.	0.992|.	T|T	0.60281|0.60281	-0.7294|-0.7294	10|5	0.38643|.	T|.	0.18|.	.|.	19.3097|19.3097	0.94182|0.94182	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	99|.	Q05209|.	PTN12_HUMAN|.	R|I	99|61	ENSP00000248594:G99R|.	ENSP00000248594:G99R|.	G|M	+|+	1|3	0|0	PTPN12|PTPN12	77050817|77050817	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.024000|8.024000	0.88770|0.88770	2.650000|2.650000	0.89964|0.89964	0.591000|0.591000	0.81541|0.81541	GGG|ATG		0.299	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			18	27	0	0	0	0	18	27				
ABCB1	5243	broad.mit.edu	37	7	87179361	87179361	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:87179361C>T	ENST00000265724.3	-	14	1777	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N	ABCB1_ENST00000543898.1_Missense_Mutation_p.D390N	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	454	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TCCTGTCCATCAACACTGACC	0.413																																						uc003uiz.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(1360-1362)GAT>AAT		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						106.0	96.0	99.0					7																	87179361		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87179361C>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1360G>A	7.37:g.87179361C>T	ENSP00000265724:p.Asp454Asn					ABCB1_uc011khc.1_Missense_Mutation_p.D390N	p.D454N	NM_000927	NP_000918	P08183	MDR1_HUMAN			14	1778	-	Esophageal squamous(14;0.00164)		454			ABC transporter 1.|Cytoplasmic (Potential).		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.1360G>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	33	5.278903	0.95489	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.91464	-2.85;-2.85	6.16	6.16	0.99307	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.91620	0.7352	N	0.11698	0.16	0.80722	D	1	P;D	0.89917	0.849;1.0	P;D	0.87578	0.567;0.998	D	0.92856	0.6301	10	0.87932	D	0	-31.2246	20.8598	0.99761	0.0:1.0:0.0:0.0	.	390;454	B5AK60;P08183	.;MDR1_HUMAN	N	235;454;390	ENSP00000265724:D454N;ENSP00000444095:D390N	ENSP00000265724:D454N	D	-	1	0	ABCB1	87017297	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.068000	0.71201	2.937000	0.99478	0.650000	0.86243	GAT		0.413	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		44	54	0	0	0	0	44	54				
TRRAP	8295	broad.mit.edu	37	7	98501107	98501107	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:98501107G>T	ENST00000359863.4	+	12	1212	c.1003G>T	c.(1003-1005)Gcc>Tcc	p.A335S	TRRAP_ENST00000446306.3_Missense_Mutation_p.A335S|TRRAP_ENST00000355540.3_Missense_Mutation_p.A335S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	335					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTGATTGCTGCCAAACACAT	0.498																																						uc003upp.2		NA																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(1003-1005)GCC>TCC		transformation/transcription domain-associated							201.0	174.0	183.0					7																	98501107		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98501107G>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.1003G>T	7.37:g.98501107G>T	ENSP00000352925:p.Ala335Ser					TRRAP_uc011kis.1_Missense_Mutation_p.A335S|TRRAP_uc003upr.2_Missense_Mutation_p.A27S	p.A335S	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		12	1212	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		335					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.1003G>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894804	0.72639	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.64803	3.56;-0.12	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66839	0.2830	N	0.14661	0.345	0.80722	D	1	D;D;D	0.61697	0.99;0.984;0.984	D;D;D	0.70935	0.971;0.935;0.935	T	0.67979	-0.5530	10	0.40728	T	0.16	.	20.0442	0.97604	0.0:0.0:1.0:0.0	.	335;49;335	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	S	335	ENSP00000352925:A335S;ENSP00000347733:A335S	ENSP00000347733:A335S	A	+	1	0	TRRAP	98339043	1.000000	0.71417	0.745000	0.31077	0.998000	0.95712	9.709000	0.98729	2.814000	0.96858	0.655000	0.94253	GCC		0.498	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		34	70	1	0	1.47e-24	5.07e-24	34	70				
RELN	5649	broad.mit.edu	37	7	103214584	103214584	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:103214584C>A	ENST00000428762.1	-	30	4625	c.4466G>T	c.(4465-4467)gGg>gTg	p.G1489V	RELN_ENST00000424685.2_Missense_Mutation_p.G1489V|RELN_ENST00000343529.5_Missense_Mutation_p.G1489V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1489					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCCCTTTTCCCAGGGCCATT	0.473																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(4465-4467)GGG>GTG		reelin isoform a							131.0	128.0	129.0					7																	103214584		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103214584C>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4466G>T	7.37:g.103214584C>A	ENSP00000392423:p.Gly1489Val					RELN_uc010liz.2_Missense_Mutation_p.G1489V	p.G1489V	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	30	4626	-			1489					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.4466G>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793825	0.90453	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.41065	1.75;1.01;1.75	5.62	5.62	0.85841	.	0.106709	0.64402	D	0.000005	T	0.62998	0.2474	M	0.70595	2.14	0.80722	D	1	P;P	0.44521	0.837;0.806	P;B	0.56648	0.803;0.403	T	0.63607	-0.6599	10	0.87932	D	0	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	1489;1489	P78509-2;P78509	.;RELN_HUMAN	V	1489	ENSP00000392423:G1489V;ENSP00000345694:G1489V;ENSP00000388446:G1489V	ENSP00000345694:G1489V	G	-	2	0	RELN	103001820	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.445000	0.80570	2.809000	0.96659	0.655000	0.94253	GGG		0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		621	142	1	0	8.2e-283	2.89e-282	621	142				
DPP6	1804	broad.mit.edu	37	7	154664386	154664386	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr7:154664386C>A	ENST00000377770.3	+	19	2007	c.1866C>A	c.(1864-1866)taC>taA	p.Y622*	DPP6_ENST00000332007.3_Nonsense_Mutation_p.Y560*|DPP6_ENST00000404039.1_Nonsense_Mutation_p.Y558*|DPP6_ENST00000427557.1_Nonsense_Mutation_p.Y515*			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	622					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCACCCACTACCCTCTGCTCC	0.547																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NA																	0				pancreas(3)|breast(1)	4						c.(1864-1866)TAC>TAA		dipeptidyl-peptidase 6 isoform 1							96.0	103.0	101.0					7																	154664386		2037	4201	6238	SO:0001587	stop_gained	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154664386C>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1866C>A	7.37:g.154664386C>A	ENSP00000367001:p.Tyr622*					DPP6_uc003wli.2_Nonsense_Mutation_p.Y558*|DPP6_uc003wlm.2_Nonsense_Mutation_p.Y560*|DPP6_uc011kvq.1_Nonsense_Mutation_p.Y515*	p.Y622*	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		19	1995	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	622			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000377770.3	37	c.1866C>A		.	.	.	.	.	.	.	.	.	.	C	39	7.500149	0.98322	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	.	.	.	4.66	0.729	0.18266	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.7846	10.7346	0.46117	0.0:0.6568:0.0:0.3432	.	.	.	.	X	558;622;560;515	.	ENSP00000328226:Y560X	Y	+	3	2	DPP6	154295319	0.963000	0.33076	0.995000	0.50966	0.992000	0.81027	0.072000	0.14617	0.157000	0.19338	0.543000	0.68304	TAC		0.547	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		6	4	1	0	0.00198382	0.00545193	6	4				
ADAM28	10863	broad.mit.edu	37	8	24167753	24167753	+	Splice_Site	SNP	T	T	A	rs201012390		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:24167753T>A	ENST00000265769.4	+	4	415	c.305T>A	c.(304-306)aTg>aAg	p.M102K	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Splice_Site_p.M102K|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	102					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCACAAATTATGGTATAACGG	0.403																																					NSCLC(193;488 2149 22258 34798 40734)	uc003xdy.2		NA																	0				skin(3)|lung(1)|central_nervous_system(1)	5						c.(304-306)ATG>AAG		ADAM metallopeptidase domain 28 isoform 1							82.0	78.0	79.0					8																	24167753		2203	4300	6503	SO:0001630	splice_region_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24167753T>A	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.306+1T>A	8.37:g.24167753T>A						ADAM28_uc003xdx.2_Missense_Mutation_p.M102K|ADAM28_uc011kzz.1_5'UTR|ADAM28_uc011laa.1_RNA	p.M102K	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	4	388	+		Prostate(55;0.0959)	102					B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.305T>A	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	T	11.97	1.798338	0.31777	.	.	ENSG00000042980	ENST00000265769;ENST00000437154	T;T	0.05199	3.48;3.48	4.97	1.36	0.22044	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.03305	0.0096	N	0.20766	0.605	0.80722	D	1	B;B	0.26195	0.144;0.082	B;B	0.22152	0.038;0.037	T	0.43393	-0.9394	9	0.09590	T	0.72	.	6.445	0.21871	0.0:0.2865:0.0:0.7135	.	102;102	Q9UKQ2;Q9UKQ2-2	ADA28_HUMAN;.	K	102	ENSP00000265769:M102K;ENSP00000393699:M102K	ENSP00000265769:M102K	M	+	2	0	ADAM28	24223698	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	0.409000	0.21082	0.463000	0.27118	0.477000	0.44152	ATG		0.403	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	Missense_Mutation	6	26	0	0	0	0	6	26				
TRIM35	23087	broad.mit.edu	37	8	27145584	27145584	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:27145584G>C	ENST00000305364.4	-	6	1048	c.965C>G	c.(964-966)aCc>aGc	p.T322S	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	322	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GGTGACGCTGGTGAGGTCGTC	0.627																																						uc003xfl.1		NA																	0					0						c.(964-966)ACC>AGC		tripartite motif-containing 35 isoform 2							42.0	47.0	45.0					8																	27145584		2203	4300	6503	SO:0001583	missense	23087				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding	g.chr8:27145584G>C	AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16285	protein-coding gene	gene with protein product			"""tripartite motif-containing 35"""			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.965C>G	8.37:g.27145584G>C	ENSP00000301924:p.Thr322Ser					TRIM35_uc010lup.1_3'UTR	p.T322S	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)	6	1047	-		Ovarian(32;2.61e-05)	322			B30.2/SPRY.		Q86XQ0|Q8WVA4	Missense_Mutation	SNP	ENST00000305364.4	37	c.965C>G	CCDS6056.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.79|13.79	2.342784|2.342784	0.41498|0.41498	.|.	.|.	ENSG00000104228|ENSG00000104228	ENST00000521283|ENST00000305364;ENST00000380544	.|T	.|0.12569	.|2.67	5.58|5.58	4.68|4.68	0.58851|0.58851	.|Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	.|0.081220	.|0.53938	.|D	.|0.000060	T|T	0.21062|0.21062	0.0507|0.0507	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|P	.|0.42296	.|0.775	.|B	.|0.43658	.|0.426	T|T	0.01290|0.01290	-1.1394|-1.1394	5|10	.|0.54805	.|T	.|0.06	.|.	11.5428|11.5428	0.50675|0.50675	0.0:0.0:0.821:0.179|0.0:0.0:0.821:0.179	.|.	.|322	.|Q9UPQ4	.|TRI35_HUMAN	A|S	87|322	.|ENSP00000301924:T322S	.|ENSP00000301924:T322S	P|T	-|-	1|2	0|0	TRIM35|TRIM35	27201501|27201501	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.498000|0.498000	0.33706|0.33706	4.740000|4.740000	0.62087|0.62087	1.304000|1.304000	0.44892|0.44892	0.491000|0.491000	0.48974|0.48974	CCA|ACC		0.627	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219848.2	NM_171982		15	48	0	0	0	0	15	48				
DDHD2	23259	broad.mit.edu	37	8	38092023	38092023	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:38092023G>A	ENST00000397166.2	+	3	857	c.332G>A	c.(331-333)aGa>aAa	p.R111K	DDHD2_ENST00000520272.2_Missense_Mutation_p.R111K	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	111	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TCGGAAGTGAGACGATGTACG	0.448																																						uc003xlb.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(331-333)AGA>AAA		DDHD domain containing 2 isoform 1							241.0	243.0	242.0					8																	38092023		2203	4300	6503	SO:0001583	missense	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38092023G>A	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.332G>A	8.37:g.38092023G>A	ENSP00000380352:p.Arg111Lys					DDHD2_uc003xla.2_Missense_Mutation_p.R111K|DDHD2_uc003xlc.2_Missense_Mutation_p.R111K|DDHD2_uc011lbl.1_5'UTR	p.R111K	NM_015214	NP_056029	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		3	709	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	111			WWE.		B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	c.332G>A	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	G	36	5.679585	0.96774	.	.	ENSG00000085788	ENST00000527834;ENST00000397166;ENST00000533100;ENST00000528358;ENST00000529642;ENST00000532222;ENST00000520272	T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;1.22;0.67;0.67	5.79	5.79	0.91817	WWE domain (2);	0.054039	0.64402	D	0.000001	T	0.64616	0.2614	M	0.89095	3.005	0.80722	D	1	B;D	0.58970	0.149;0.984	B;P	0.53450	0.145;0.726	T	0.67585	-0.5633	10	0.37606	T	0.19	-19.6579	11.9889	0.53163	0.0791:0.0:0.9209:0.0	.	111;111	O94830;E9PKE6	DDHD2_HUMAN;.	K	111;111;111;109;15;111;111	ENSP00000432433:R111K;ENSP00000380352:R111K;ENSP00000432678:R111K;ENSP00000433118:R109K;ENSP00000436444:R15K;ENSP00000433578:R111K;ENSP00000429932:R111K	ENSP00000380352:R111K	R	+	2	0	DDHD2	38211180	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.117000	0.77129	2.733000	0.93635	0.655000	0.94253	AGA		0.448	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		41	90	0	0	0	0	41	90				
UBXN2B	137886	broad.mit.edu	37	8	59358527	59358527	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:59358527A>C	ENST00000399598.2	+	7	855	c.733A>C	c.(733-735)Aat>Cat	p.N245H		NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	245						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						ATCAATACTTAATGCAGTTGT	0.353																																						uc003xtl.2		NA																	0				ovary(2)	2						c.(733-735)AAT>CAT		UBX domain protein 2B							125.0	109.0	114.0					8																	59358527		1860	4089	5949	SO:0001583	missense	137886					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus		g.chr8:59358527A>C	AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"""UBX domain containing"""	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.733A>C	8.37:g.59358527A>C	ENSP00000382507:p.Asn245His						p.N245H	NM_001077619	NP_001071087	Q14CS0	UBX2B_HUMAN			7	855	+			245					B3KWZ3	Missense_Mutation	SNP	ENST00000399598.2	37	c.733A>C	CCDS43741.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.097616	0.56075	.	.	ENSG00000215114	ENST00000399598	T	0.41758	0.99	5.6	5.6	0.85130	.	0.000000	0.47852	U	0.000212	T	0.29321	0.0730	N	0.19112	0.55	0.40019	D	0.975388	P	0.43169	0.8	B	0.41088	0.347	T	0.13980	-1.0489	10	0.51188	T	0.08	-5.4243	9.6535	0.39912	0.922:0.0:0.078:0.0	.	245	Q14CS0	UBX2B_HUMAN	H	245	ENSP00000382507:N245H	ENSP00000382507:N245H	N	+	1	0	UBXN2B	59521081	1.000000	0.71417	0.932000	0.37286	0.997000	0.91878	2.700000	0.47085	2.157000	0.67596	0.529000	0.55759	AAT		0.353	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619		17	47	0	0	0	0	17	47				
CHD7	55636	broad.mit.edu	37	8	61764637	61764637	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:61764637C>A	ENST00000423902.2	+	29	6204	c.5725C>A	c.(5725-5727)Ctg>Atg	p.L1909M	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1909					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CACTTCAACCCTGACTACACG	0.498																																						uc003xue.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(5725-5727)CTG>ATG		chromodomain helicase DNA binding protein 7							43.0	43.0	43.0					8																	61764637		1928	4130	6058	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61764637C>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5725C>A	8.37:g.61764637C>A	ENSP00000392028:p.Leu1909Met						p.L1909M	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		29	6202	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1909					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.5725C>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939416	0.92526	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.92048	-2.96	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000007	D	0.95701	0.8602	M	0.77103	2.36	0.80722	D	1	P	0.51653	0.947	P	0.60682	0.878	D	0.95606	0.8667	10	0.62326	D	0.03	-13.388	19.4992	0.95086	0.0:1.0:0.0:0.0	.	1909	Q9P2D1	CHD7_HUMAN	M	1909	ENSP00000392028:L1909M	ENSP00000307304:L1909M	L	+	1	2	CHD7	61927191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.747000	0.85070	2.689000	0.91719	0.655000	0.94253	CTG		0.498	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		13	21	1	0	1.05e-09	3.31e-09	13	21				
TCEB1	6921	broad.mit.edu	37	8	74858964	74858964	+	Silent	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:74858964C>T	ENST00000522337.1	-	5	559	c.240G>A	c.(238-240)aaG>aaA	p.K80K	TCEB1_ENST00000520242.1_Silent_p.K80K|TCEB1_ENST00000523815.1_Silent_p.K80K|TCEB1_ENST00000519487.1_Silent_p.K80K|TCEB1_ENST00000520210.1_Silent_p.K64K|TCEB1_ENST00000284811.8_Silent_p.K80K|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000518127.1_Silent_p.K80K			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	80					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			TGTAGCGAACCTTGTACGTAA	0.413																																						uc003xzx.1		NA																	0					0						c.(238-240)AAG>AAA		elongin C							91.0	74.0	80.0					8																	74858964		2203	4300	6503	SO:0001819	synonymous_variant	6921				interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding	g.chr8:74858964C>T	L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"""transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"""			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.240G>A	8.37:g.74858964C>T						TCEB1_uc003xzy.1_Silent_p.K80K|TCEB1_uc003xzz.1_Silent_p.K64K|TCEB1_uc003yaa.1_Silent_p.K80K	p.K80K	NM_005648	NP_005639	Q15369	ELOC_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)		4	325	-	Breast(64;0.0311)		80					E5RGD9|Q567Q6	Silent	SNP	ENST00000522337.1	37	c.240G>A	CCDS34910.1																																																																																				0.413	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000379020.1	NM_005648		18	20	0	0	0	0	18	20				
UBR5	51366	broad.mit.edu	37	8	103358499	103358499	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:103358499C>A	ENST00000520539.1	-	7	1307	c.701G>T	c.(700-702)gGg>gTg	p.G234V	UBR5_ENST00000521922.1_Missense_Mutation_p.G234V|UBR5_ENST00000220959.4_Missense_Mutation_p.G234V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	234					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGTATCATCCCCATCATCTCC	0.428																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(700-702)GGG>GTG		ubiquitin protein ligase E3 component n-recognin							177.0	162.0	167.0					8																	103358499		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103358499C>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.701G>T	8.37:g.103358499C>A	ENSP00000429084:p.Gly234Val					UBR5_uc003yks.1_Missense_Mutation_p.G234V	p.G234V	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		7	734	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		234					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.701G>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605609	0.87157	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.43294	0.95;0.95;0.96	5.46	4.56	0.56223	.	0.060573	0.64402	D	0.000003	T	0.31451	0.0797	N	0.20685	0.6	0.80722	D	1	P;P	0.43287	0.802;0.802	B;B	0.39094	0.29;0.29	T	0.23511	-1.0186	10	0.72032	D	0.01	.	16.3217	0.82953	0.0:0.8675:0.1325:0.0	.	234;234	E7EMW7;O95071	.;UBR5_HUMAN	V	234	ENSP00000429084:G234V;ENSP00000220959:G234V;ENSP00000427819:G234V	ENSP00000220959:G234V	G	-	2	0	UBR5	103427675	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.776000	0.85560	1.368000	0.46115	0.650000	0.86243	GGG		0.428	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		48	67	1	0	3.77e-18	1.26e-17	48	67				
FANCG	2189	broad.mit.edu	37	9	35079225	35079225	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr9:35079225G>C	ENST00000378643.3	-	2	589	c.98C>G	c.(97-99)tCc>tGc	p.S33C	FANCG_ENST00000476212.1_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	33					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGTCAGACCGGAGTTCTGAGC	0.572			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																														uc003zwb.1		NA	yes	Rec		Fanconi anaemia G	9	9p13	2189	Mis|N|F|S	"""Fanconi anemia, complementation group G"""			L		AML|leukemia			0				ovary(2)|large_intestine(1)|lung(1)	4						c.(97-99)TCC>TGC	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group G							33.0	29.0	31.0					9																	35079225		2202	4300	6502	SO:0001583	missense	2189	Fanconi_Anemia			cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	g.chr9:35079225G>C	AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.98C>G	9.37:g.35079225G>C	ENSP00000367910:p.Ser33Cys					FANCG_uc003zwa.1_5'Flank|FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Missense_Mutation_p.S33C	p.S33C	NM_004629	NP_004620	O15287	FANCG_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		2	590	-			33						Missense_Mutation	SNP	ENST00000378643.3	37	c.98C>G	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420392	0.42918	.	.	ENSG00000221829	ENST00000378643;ENST00000543657;ENST00000448890	T;T	0.78246	0.54;-1.16	4.7	1.53	0.23141	.	.	.	.	.	T	0.67325	0.2881	L	0.50333	1.59	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.54166	-0.8334	9	0.35671	T	0.21	0.841	4.2568	0.10721	0.2291:0.1844:0.5865:0.0	.	33	O15287	FANCG_HUMAN	C	33	ENSP00000367910:S33C;ENSP00000409607:S33C	ENSP00000367910:S33C	S	-	2	0	FANCG	35069225	0.004000	0.15560	0.001000	0.08648	0.195000	0.23768	0.383000	0.20651	0.197000	0.20387	0.561000	0.74099	TCC		0.572	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		4	5	0	0	0	0	4	5				
TDRD7	23424	broad.mit.edu	37	9	100222478	100222479	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr9:100222478_100222479GG>TT	ENST00000355295.4	+	7	1169_1170	c.874_875GG>TT	c.(874-876)GGt>TTt	p.G292F	TDRD7_ENST00000422139.2_Missense_Mutation_p.G218F	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	292	HTH OST-type 2. {ECO:0000255|PROSITE- ProRule:PRU00975}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ACCTTGCAGTGGTGGCCAAGAT	0.376																																						uc004axj.2		NA																	0				ovary(2)|pancreas(1)	3						c.(874-876)GGT>TTT		tudor domain containing 7																																				SO:0001583	missense	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100222478_100222479GG>TT	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	Exception_encountered	9.37:g.100222478_100222479delinsTT	ENSP00000347444:p.Gly292Phe					TDRD7_uc011lux.1_Missense_Mutation_p.G218F	p.G292F	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN			7	1099_1100	+		Acute lymphoblastic leukemia(62;0.158)	292			Lotus/OST-HTH 2.		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	DNP	ENST00000355295.4	37	c.874_875GG>TT	CCDS6725.1																																																																																				0.376	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		10	38	0	0	0	0	10	38				
TUBB4B	10383	broad.mit.edu	37	9	140137531	140137531	+	Silent	SNP	C	C	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr9:140137531C>T	ENST00000340384.4	+	4	1009	c.861C>T	c.(859-861)ccC>ccT	p.P287P		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	287					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)									Albendazole(DB00518)|Mebendazole(DB00643)	TGACCGTGCCCGAGCTCACCC	0.657																																						uc004cmh.1		NA																	0				ovary(1)	1						c.(859-861)CCC>CCT		tubulin, beta, 2							36.0	38.0	37.0					9																	140137531		2202	4287	6489	SO:0001819	synonymous_variant	10383				'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding	g.chr9:140137531C>T	BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"""Tubulins"""	20771	protein-coding gene	gene with protein product	"""class IVb beta-tubulin"""	602660	"""tubulin, beta 2C"""	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.861C>T	9.37:g.140137531C>T						TUBB2C_uc004cmg.1_Silent_p.P141P	p.P287P	NM_006088	NP_006079	P68371	TBB2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	4	963	+	all_cancers(76;0.0926)		287					A2BFA2|P05217	Silent	SNP	ENST00000340384.4	37	c.861C>T	CCDS7039.1																																																																																				0.657	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088		41	36	0	0	0	0	41	36				
FRMPD4	9758	broad.mit.edu	37	X	12736659	12736659	+	Silent	SNP	G	G	T	rs148954983	byFrequency	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chrX:12736659G>T	ENST00000380682.1	+	16	4220	c.3714G>T	c.(3712-3714)ccG>ccT	p.P1238P		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1238					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGGAGTCGCCGCTCTGCCCCT	0.602																																						uc004cuz.1		NA																	0				central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						c.(3712-3714)CCG>CCT		FERM and PDZ domain containing 4							58.0	61.0	60.0					X																	12736659		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12736659G>T	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3714G>T	X.37:g.12736659G>T						FRMPD4_uc011mij.1_Silent_p.P1230P	p.P1238P	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			16	4220	+			1238					A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.3714G>T	CCDS35201.1																																																																																				0.602	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		40	12	1	0	3.09e-21	1.05e-20	40	12				
PAK3	5063	broad.mit.edu	37	X	110435821	110435821	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chrX:110435821C>A	ENST00000372010.1	+	14	1454	c.1012C>A	c.(1012-1014)Cct>Act	p.P338T	PAK3_ENST00000262836.4_Missense_Mutation_p.P338T|PAK3_ENST00000518291.1_Missense_Mutation_p.P359T|PAK3_ENST00000446737.1_Missense_Mutation_p.P323T|PAK3_ENST00000417227.1_Missense_Mutation_p.P344T|PAK3_ENST00000360648.4_Missense_Mutation_p.P359T|PAK3_ENST00000519681.1_Missense_Mutation_p.P344T|PAK3_ENST00000425146.1_Missense_Mutation_p.P323T|PAK3_ENST00000372007.5_Missense_Mutation_p.P323T			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	338	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AAATAAGAACCCTAATATTGT	0.313										TSP Lung(19;0.15)																												uc004epa.2		NA																	0				lung(6)|ovary(3)|large_intestine(1)	10						c.(1012-1014)CCT>ACT		p21-activated kinase 3 isoform d							39.0	39.0	39.0					X																	110435821		2202	4296	6498	SO:0001583	missense	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110435821C>A	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.1012C>A	X.37:g.110435821C>A	ENSP00000361080:p.Pro338Thr	TSP Lung(19;0.15)				PAK3_uc010npt.1_Missense_Mutation_p.P323T|PAK3_uc010npu.1_Missense_Mutation_p.P323T|PAK3_uc004eoy.1_Missense_Mutation_p.P78T|PAK3_uc004eoz.2_Missense_Mutation_p.P323T|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.P359T|PAK3_uc010npw.1_Missense_Mutation_p.P344T	p.P338T	NM_001128173	NP_001121645	O75914	PAK3_HUMAN			10	1039	+			338			Protein kinase.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	c.1012C>A	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666826	0.47677	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	5.97	5.97	0.96955	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057573	0.64402	D	0.000001	T	0.40398	0.1115	M	0.87827	2.91	0.54753	D	0.999982	B;B;B;B;B	0.32829	0.191;0.335;0.386;0.191;0.386	B;B;B;B;B	0.42555	0.212;0.271;0.391;0.15;0.391	T	0.38650	-0.9651	10	0.72032	D	0.01	.	13.5174	0.61549	0.0:0.9246:0.0:0.0754	.	344;359;338;323;338	O75914-4;O75914-3;O75914;O75914-2;B1GX77	.;.;PAK3_HUMAN;.;.	T	323;323;338;344;323;359;359;344;338	ENSP00000410853:P323T;ENSP00000401982:P323T;ENSP00000361080:P338T;ENSP00000429113:P344T;ENSP00000361077:P323T;ENSP00000428921:P359T;ENSP00000353864:P359T;ENSP00000389172:P344T;ENSP00000262836:P338T	ENSP00000262836:P338T	P	+	1	0	PAK3	110322477	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.914000	0.48797	2.527000	0.85204	0.600000	0.82982	CCT		0.313	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		6	6	1	0	0.00116845	0.0032266	6	6				
IGSF1	3547	broad.mit.edu	37	X	130409178	130409178	+	Silent	SNP	C	C	G			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chrX:130409178C>G	ENST00000361420.3	-	17	3346	c.3267G>C	c.(3265-3267)ggG>ggC	p.G1089G	IGSF1_ENST00000370910.1_Silent_p.G1080G|IGSF1_ENST00000370904.1_Silent_p.G1080G|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370903.3_Silent_p.G1094G			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1089	Ig-like C2-type 11.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTGGCAGTTCCCCTTGACACT	0.547																																						uc004ewd.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(3265-3267)GGG>GGC		immunoglobulin superfamily, member 1 isoform 1							124.0	124.0	124.0					X																	130409178		2203	4300	6503	SO:0001819	synonymous_variant	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409178C>G	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3267G>C	X.37:g.130409178C>G						IGSF1_uc004ewe.3_Silent_p.G1083G|IGSF1_uc004ewf.2_Silent_p.G1069G	p.G1089G	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			17	3505	-			1089			Extracellular (Potential).|Ig-like C2-type 11.		B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	c.3267G>C	CCDS14629.1																																																																																				0.547	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			102	13	0	0	0	0	102	13				
USP26	83844	broad.mit.edu	37	X	132161248	132161248	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chrX:132161248G>T	ENST00000511190.1	-	6	1470	c.1001C>A	c.(1000-1002)cCc>cAc	p.P334H	USP26_ENST00000406273.1_Missense_Mutation_p.P334H|USP26_ENST00000370832.1_Missense_Mutation_p.P334H	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	334	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AGCATTAAGGGGAATTTTACC	0.368																																					NSCLC(104;342 1621 36940 47097 52632)	uc010nrm.1		NA																	0				lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8						c.(1000-1002)CCC>CAC		ubiquitin-specific protease 26							32.0	34.0	33.0					X																	132161248		2189	4273	6462	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132161248G>T	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1001C>A	X.37:g.132161248G>T	ENSP00000423390:p.Pro334His					USP26_uc011mvf.1_Missense_Mutation_p.P334H	p.P334H	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN			6	1471	-	Acute lymphoblastic leukemia(192;0.000127)		334					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.1001C>A	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614926	0.46631	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.30714	1.52;1.52;1.52	3.72	2.83	0.33086	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.45606	D	0.000356	T	0.53769	0.1817	M	0.80847	2.515	0.09310	N	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.44620	-0.9316	10	0.87932	D	0	-2.0864	10.2621	0.43434	0.0:0.1992:0.8008:0.0	.	334	Q9BXU7	UBP26_HUMAN	H	334	ENSP00000359869:P334H;ENSP00000423390:P334H;ENSP00000384360:P334H	ENSP00000359869:P334H	P	-	2	0	USP26	131988914	1.000000	0.71417	0.007000	0.13788	0.024000	0.10985	5.267000	0.65530	0.915000	0.36847	0.468000	0.43344	CCC		0.368	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		29	4	1	0	6.07e-21	2.05e-20	29	4				
AFF2	2334	broad.mit.edu	37	X	148048568	148048568	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chrX:148048568C>A	ENST00000370460.2	+	14	3641	c.3162C>A	c.(3160-3162)agC>agA	p.S1054R	AFF2_ENST00000286437.5_Missense_Mutation_p.S695R|AFF2_ENST00000342251.3_Missense_Mutation_p.S1021R|AFF2_ENST00000370457.5_Missense_Mutation_p.S1019R	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1054					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TATCCAGCAGCAGCACTAATG	0.527																																						uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.(3160-3162)AGC>AGA		fragile X mental retardation 2							250.0	202.0	218.0					X																	148048568		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148048568C>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3162C>A	X.37:g.148048568C>A	ENSP00000359489:p.Ser1054Arg					AFF2_uc004fcq.2_Missense_Mutation_p.S1044R|AFF2_uc004fcr.2_Missense_Mutation_p.S1015R|AFF2_uc011mxb.1_Missense_Mutation_p.S1019R|AFF2_uc004fcs.2_Missense_Mutation_p.S1019R|AFF2_uc011mxc.1_Missense_Mutation_p.S695R	p.S1054R	NM_002025	NP_002016	P51816	AFF2_HUMAN			14	3641	+	Acute lymphoblastic leukemia(192;6.56e-05)		1054					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.3162C>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.267254	0.59540	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.57	2.68	0.31781	.	0.354636	0.26032	N	0.026760	T	0.63534	0.2519	L	0.55481	1.735	0.26604	N	0.972969	D;P;D;P;P;P	0.62365	0.985;0.919;0.991;0.919;0.919;0.934	P;B;P;B;B;P	0.59889	0.865;0.406;0.849;0.406;0.406;0.541	T	0.55347	-0.8155	10	0.49607	T	0.09	.	1.9981	0.03461	0.362:0.3109:0.2262:0.1009	.	695;1019;1019;1015;1044;1054	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	R	1054;1019;1021;695	ENSP00000359489:S1054R;ENSP00000359486:S1019R;ENSP00000345459:S1021R;ENSP00000286437:S695R	ENSP00000286437:S695R	S	+	3	2	AFF2	147856262	1.000000	0.71417	0.988000	0.46212	0.939000	0.58152	1.085000	0.30840	1.088000	0.41272	0.513000	0.50165	AGC		0.527	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		132	21	1	0	7.55e-51	2.65e-50	132	21				
HORMAD1	84072	broad.mit.edu	37	1	150686599	150686600	+	Splice_Site	INS	-	-	A	rs199847530	byFrequency	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr1:150686599_150686600insA	ENST00000361824.2	-	5	348		c.e5-2		HORMAD1_ENST00000368993.2_Splice_Site|HORMAD1_ENST00000322343.7_Splice_Site|HORMAD1_ENST00000476530.1_Splice_Site|HORMAD1_ENST00000368995.4_Splice_Site	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1						blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)		p.?(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CCTAGCATCCTAAAAAAAAAAT	0.248																																						uc001evk.1		NA																	1	Unknown(1)		ovary(1)	ovary(2)|central_nervous_system(1)	3						c.e5-1		HORMA domain containing 1																																				SO:0001630	splice_region_variant	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150686599_150686600insA	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.243-2->T	1.37:g.150686609_150686609dupA						HORMAD1_uc001evl.1_Splice_Site_p.W81_splice|HORMAD1_uc001evm.1_Splice_Site_p.W10_splice	p.W81_splice	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		5	349	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)							A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Splice_Site	INS	ENST00000361824.2	37	c.243_splice	CCDS967.1																																																																																				0.248	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1	NM_032132	Intron	7	103	NA	NA	NA	NA	7	103	---	---	---	---
PPP2R1B	5519	broad.mit.edu	37	11	111636073	111636074	+	In_Frame_Ins	INS	-	-	ATT			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr11:111636073_111636074insATT	ENST00000527614.1	-	2	214_215	c.149_150insAAT	c.(148-150)att>atAATt	p.50_50I>II	PPP2R1B_ENST00000426998.2_Intron|PPP2R1B_ENST00000341980.6_In_Frame_Ins_p.50_50I>II|PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000311129.5_In_Frame_Ins_p.50_50I>II|PPP2R1B_ENST00000393055.2_In_Frame_Ins_p.50_50I>II	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	50					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GTGCTAGGGCAATTGTTGATAA	0.361																																						uc001plx.1		NA																	0					0						c.(148-150)ATT>ATAATT		beta isoform of regulatory subunit A, protein																																				SO:0001652	inframe_insertion	5519						protein binding	g.chr11:111636073_111636074insATT	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.147_149dupAAT	11.37:g.111636074_111636076dupATT	ENSP00000437193:p.Ile50dup					PPP2R1B_uc001plw.1_In_Frame_Ins_p.50_50I>II|PPP2R1B_uc010rwi.1_Intron|PPP2R1B_uc010rwj.1_5'UTR|PPP2R1B_uc010rwk.1_In_Frame_Ins_p.50_50I>II|PPP2R1B_uc010rwl.1_In_Frame_Ins_p.50_50I>II	p.50_50I>II	NM_002716	NP_002707	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	2	233_234	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	50			HEAT 1.		A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	In_Frame_Ins	INS	ENST00000527614.1	37	c.149_150insAAT	CCDS8349.1																																																																																				0.361	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716		28	87	NA	NA	NA	NA	28	87	---	---	---	---
C12orf42	374470	broad.mit.edu	37	12	103695967	103695967	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr12:103695967delT	ENST00000378113.2	-	6	1227	c.1002delA	c.(1000-1002)gcafs	p.A334fs	C12orf42_ENST00000548883.1_Frame_Shift_Del_p.A334fs|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548048.1_Frame_Shift_Del_p.A267fs	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	334										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GGCGGGGGGGTGCTGAGGAGC	0.582																																						uc001tjt.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1000-1002)GCAfs		hypothetical protein LOC374470							47.0	55.0	53.0					12																	103695967		1858	4088	5946	SO:0001589	frameshift_variant	374470							g.chr12:103695967delT	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.1002delA	12.37:g.103695967delT	ENSP00000367353:p.Ala334fs					C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Frame_Shift_Del_p.A334fs|C12orf42_uc001tju.2_Frame_Shift_Del_p.A239fs	p.A334fs	NM_198521	NP_940923	Q96LP6	CL042_HUMAN			6	1090	-			334					Q49A64|Q4G0S2	Frame_Shift_Del	DEL	ENST00000378113.2	37	c.1002delA	CCDS44963.1																																																																																				0.582	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		14	101	NA	NA	NA	NA	14	101	---	---	---	---
MPP5	64398	broad.mit.edu	37	14	67784174	67784175	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr14:67784174_67784175insT	ENST00000261681.4	+	11	2008_2009	c.1347_1348insT	c.(1348-1350)tatfs	p.Y450fs	MPP5_ENST00000555925.1_Frame_Shift_Ins_p.Y416fs|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	450					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AAAAGGTTTTATATAATGCCAA	0.342																																						uc001xjc.2		NA																	0				ovary(1)	1						c.(1345-1350)TTATATfs		membrane protein, palmitoylated 5																																				SO:0001589	frameshift_variant	64398				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding	g.chr14:67784174_67784175insT	AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1348dupT	14.37:g.67784175_67784175dupT	ENSP00000261681:p.Tyr450fs					MPP5_uc001xjd.2_Frame_Shift_Ins_p.L415fs|ATP6V1D_uc001xje.2_Intron	p.L449fs	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN		all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)	11	1813_1814	+			449_450					A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Frame_Shift_Ins	INS	ENST00000261681.4	37	c.1347_1348insT	CCDS9779.1																																																																																				0.342	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		12	33	NA	NA	NA	NA	12	33	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578505	7578515	+	Frame_Shift_Del	DEL	GGGCAGGTCTT	GGGCAGGTCTT	-	rs137852794|rs587781288		TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr17:7578505_7578515delGGGCAGGTCTT	ENST00000269305.4	-	5	604_614	c.415_425delAAGACCTGCCC	c.(415-426)aagacctgccctfs	p.KTCP139fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.KTCP139fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.KTCP139fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.KTCP139fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.KTCP139fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.KTCP139fs	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	139	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:14660794}.|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C141Y(79)|p.C141R(13)|p.C141W(13)|p.T140I(12)|p.C141*(11)|p.K139N(9)|p.P142L(8)|p.0?(8)|p.K139K(7)|p.T140T(6)|p.C9Y(5)|p.K139E(5)|p.C48Y(5)|p.C141S(5)|p.A138_P142delAKTCP(4)|p.C141C(4)|p.C141F(4)|p.K139fs*9(3)|p.C135fs*9(3)|p.K139_T140delKT(3)|p.P142H(3)|p.K139fs*31(3)|p.C141fs*29(3)|p.K139Q(2)|p.K139R(2)|p.P142F(2)|p.P142A(2)|p.P142T(2)|p.P142S(2)|p.N131fs*27(2)|p.P142fs*28(2)|p.C141fs*8(2)|p.K139*(2)|p.K139T(1)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.V73fs*9(1)|p.K7_T8delKT(1)|p.T140fs*9(1)|p.K46_T47delKT(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.K139fs*11(1)|p.K139fs*10(1)|p.T140N(1)|p.C48S(1)|p.C48R(1)|p.C48W(1)|p.A138fs*31(1)|p.C9S(1)|p.C42fs*9(1)|p.C9R(1)|p.K46E(1)|p.C9W(1)|p.C135_T140delCQLAKT(1)|p.Q136_K139delQLAK(1)|p.C141A(1)|p.C141G(1)|p.C141_P142insXX(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.C3fs*9(1)|p.K7E(1)|p.T140fs*28(1)|p.T140fs*30(1)|p.C141fs*5(1)|p.P142del(1)|p.P142fs*7(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)	CAGCTGCACAGGGCAGGTCTTGGCCAGTTGG	0.573		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)	uc002gim.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		276	Substitution - Missense(185)|Deletion - Frameshift(24)|Deletion - In frame(17)|Substitution - coding silent(17)|Substitution - Nonsense(13)|Insertion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(2)|Insertion - In frame(1)|Complex - frameshift(1)	p.C141Y(61)|p.T140I(12)|p.C141*(11)|p.C141R(10)|p.C141W(10)|p.K139N(8)|p.P142L(8)|p.K139K(7)|p.0?(7)|p.T140T(6)|p.K139fs*31(4)|p.C141C(4)|p.C141F(4)|p.K139fs*9(3)|p.P142H(3)|p.C141fs*29(3)|p.K139Q(2)|p.K139R(2)|p.K139E(2)|p.P142F(2)|p.P142A(2)|p.P142T(2)|p.P142S(2)|p.N131fs*27(2)|p.C141S(2)|p.P142fs*28(2)|p.C141fs*8(2)|p.K139*(2)|p.K139T(1)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.T140fs*9(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.V73fs*9(1)|p.A138_V143delAKTCPV(1)|p.T140N(1)|p.K139fs*11(1)|p.K139fs*10(1)|p.T140fs*30(1)|p.A138fs*31(1)|p.A138_P142delAKTCP(1)|p.C135_T140delCQLAKT(1)|p.Q136_K139delQLAK(1)|p.C141A(1)|p.C141G(1)|p.C141_P142insXX(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.T140fs*28(1)|p.C141fs*5(1)|p.P142del(1)|p.P142fs*7(1)	large_intestine(39)|breast(33)|ovary(29)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|urinary_tract(16)|liver(16)|oesophagus(15)|upper_aerodigestive_tract(14)|central_nervous_system(13)|stomach(11)|skin(10)|prostate(8)|endometrium(6)|NS(5)|bone(5)|biliary_tract(4)|testis(3)|soft_tissue(3)|kidney(2)|pancreas(2)|vulva(1)|eye(1)|genital_tract(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM993216	TP53	M		c.(415-426)AAGACCTGCCCTfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578505_7578515delGGGCAGGTCTT	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.415_425delAAGACCTGCCC	17.37:g.7578505_7578515delGGGCAGGTCTT	ENSP00000269305:p.Lys139fs	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_uc002gig.1_Frame_Shift_Del_p.K139fs|TP53_uc002gih.2_Frame_Shift_Del_p.K139fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.K7fs|TP53_uc010cng.1_Frame_Shift_Del_p.K7fs|TP53_uc002gii.1_Frame_Shift_Del_p.K7fs|TP53_uc010cnh.1_Frame_Shift_Del_p.K139fs|TP53_uc010cni.1_Frame_Shift_Del_p.K139fs|TP53_uc002gij.2_Frame_Shift_Del_p.K139fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.K46fs|TP53_uc002gio.2_Frame_Shift_Del_p.K7fs|TP53_uc010vug.1_Frame_Shift_Del_p.K100fs	p.K139fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	609_619	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	139_142		P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> R (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.415_425delAAGACCTGCCC	CCDS11118.1																																																																																				0.573	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		32	11	NA	NA	NA	NA	32	11	---	---	---	---
PSMA8	143471	broad.mit.edu	37	18	23772351	23772352	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr18:23772351_23772352insA	ENST00000308268.6	+	7	836_837	c.747_748insA	c.(748-750)aaafs	p.K250fs	PSMA8_ENST00000415576.2_Frame_Shift_Ins_p.K244fs|PSMA8_ENST00000343848.6_Frame_Shift_Ins_p.K206fs	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	250					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)	p.K249N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			AAGCAGAGAAGAAAAAATCAAA	0.302																																						uc002kvq.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	skin(1)	1						c.(745-750)AAGAAAfs		proteasome alpha 8 subunit isoform 1																																				SO:0001589	frameshift_variant	143471				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity	g.chr18:23772351_23772352insA	BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"""Proteasome (prosome, macropain) subunits"""	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.753dupA	18.37:g.23772357_23772357dupA	ENSP00000311121:p.Lys250fs					PSMA8_uc002kvo.2_Frame_Shift_Ins_p.K205fs|PSMA8_uc002kvp.2_Frame_Shift_Ins_p.K243fs|PSMA8_uc002kvr.2_Frame_Shift_Ins_p.K217fs	p.K249fs	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)		7	861_862	+	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		249_250					B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Frame_Shift_Ins	INS	ENST00000308268.6	37	c.747_748insA	CCDS32808.1																																																																																				0.302	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446255.1	NM_144662		10	20	NA	NA	NA	NA	10	20	---	---	---	---
ATP1A3	478	broad.mit.edu	37	19	42492178	42492179	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr19:42492178_42492179insC	ENST00000302102.5	-	4	416_417	c.266_267insG	c.(265-267)ggcfs	p.G89fs	ATP1A3_ENST00000602133.1_Frame_Shift_Ins_p.G59fs|ATP1A3_ENST00000545399.1_Frame_Shift_Ins_p.G102fs|ATP1A3_ENST00000468774.2_5'Flank|ATP1A3_ENST00000543770.1_Frame_Shift_Ins_p.G100fs	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	89					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGATGGAGAAGCCCCCGAAGAG	0.639																																						uc002osg.2		NA																	0				ovary(1)|pancreas(1)	2						c.(265-267)GGCfs		Na+/K+ -ATPase alpha 3 subunit																																				SO:0001589	frameshift_variant	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42492178_42492179insC		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.267dupG	19.37:g.42492183_42492183dupC	ENSP00000302397:p.Gly89fs					ATP1A3_uc010xwf.1_Frame_Shift_Ins_p.G100fs|ATP1A3_uc010xwg.1_Frame_Shift_Ins_p.G59fs|ATP1A3_uc010xwh.1_Frame_Shift_Ins_p.G102fs|ATP1A3_uc002osh.2_Frame_Shift_Ins_p.G89fs	p.G89fs	NM_152296	NP_689509	P13637	AT1A3_HUMAN			4	420_421	-			89			Helical; (Potential).		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Frame_Shift_Ins	INS	ENST00000302102.5	37	c.266_267insG	CCDS12594.1																																																																																				0.639	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		94	66	NA	NA	NA	NA	94	66	---	---	---	---
MTUS1	57509	broad.mit.edu	37	8	17611420	17611431	+	In_Frame_Del	DEL	ACGCAGAAACGG	ACGCAGAAACGG	-	rs190778203|rs369947026|rs377451974	byFrequency	TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:17611420_17611431delACGCAGAAACGG	ENST00000262102.6	-	2	2110_2121	c.1886_1897delCCGTTTCTGCGT	c.(1885-1899)tccgtttctgcgttg>ttg	p.SVSA629del	MTUS1_ENST00000381862.3_In_Frame_Del_p.SVSA629del|MTUS1_ENST00000519263.1_In_Frame_Del_p.SVSA629del|MTUS1_ENST00000381869.3_In_Frame_Del_p.SVSA629del	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	629					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTCTGAAACAACGCAGAAACGGACCCGGTCTC	0.434																																						uc003wxv.2		NA																	0				ovary(1)|skin(1)	2						c.(1885-1899)TCCGTTTCTGCGTTG>TTG		mitochondrial tumor suppressor 1 isoform 1																																				SO:0001651	inframe_deletion	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17611420_17611431delACGCAGAAACGG	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.1886_1897delCCGTTTCTGCGT	8.37:g.17611420_17611431delACGCAGAAACGG	ENSP00000262102:p.Ser629_Ala632del					MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_In_Frame_Del_p.SVSA629del|MTUS1_uc010lsz.2_In_Frame_Del_p.SVSA629del	p.SVSA629del	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	2360_2371	-			629_632					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	In_Frame_Del	DEL	ENST00000262102.6	37	c.1886_1897delCCGTTTCTGCGT	CCDS43717.1																																																																																				0.434	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		23	81	NA	NA	NA	NA	23	81	---	---	---	---
EBF2	64641	broad.mit.edu	37	8	25720221	25720231	+	Splice_Site	DEL	TTACCTTAGCT	TTACCTTAGCT	-			TCGA-CN-6988-01A-11D-1912-08	TCGA-CN-6988-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	230b06a8-5f6e-41db-bb59-19e4e6c9afaf	cc2f24ac-fce9-4b5a-bff2-7f2f9595a426	g.chr8:25720221_25720231delTTACCTTAGCT	ENST00000520164.1	-	11	1629_1636	c.1092_1099delAGCTAAGGTAA	c.(1090-1101)ttagctaaggta>ttta	p.LAKV364fs	EBF2_ENST00000535548.1_Splice_Site_p.LAKV95fs|EBF2_ENST00000408929.3_Splice_Site_p.LAKV216fs	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	364					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CCAAAGCACATTACCTTAGCTAATCTCTCAG	0.403																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	uc003xes.1		NA																	0				ovary(3)|skin(1)	4						c.e11+1		early B-cell factor 2																																				SO:0001630	splice_region_variant	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25720221_25720231delTTACCTTAGCT	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1098+1AGCTAAGGTAA>-	8.37:g.25720221_25720231delTTACCTTAGCT						PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_Splice_Site	p.K366_splice	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	11	1115	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)						A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Splice_Site	DEL	ENST00000520164.1	37	c.1098_splice	CCDS43726.1																																																																																				0.403	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659	Frame_Shift_Del	9	54	NA	NA	NA	NA	9	54	---	---	---	---
