#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
MMEL1	79258	broad.mit.edu	37	1	2540804	2540804	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:2540804G>A	ENST00000378412.3	-	6	670	c.509C>T	c.(508-510)aCg>aTg	p.T170M	MMEL1_ENST00000288709.6_Missense_Mutation_p.T161M|MMEL1_ENST00000502556.1_Intron			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	170						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GCGGTACAGCGTCCTGGCCTT	0.687																																						uc001ajy.2		NA																	0					0						c.(508-510)ACG>ATG		membrane metallo-endopeptidase-like 1							36.0	28.0	31.0					1																	2540804		2203	4299	6502	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2540804G>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.509C>T	1.37:g.2540804G>A	ENSP00000367668:p.Thr170Met					MMEL1_uc009vlg.1_RNA	p.T170M	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	6	723	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	170			Lumenal (Potential).		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.509C>T	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	N	11.08	1.534734	0.27475	.	.	ENSG00000142606	ENST00000288709;ENST00000378412	T;T	0.75477	-0.94;-0.94	5.56	-2.42	0.06542	Peptidase M13 (1);	0.820307	0.12161	N	0.493982	T	0.65606	0.2707	L	0.54323	1.7	0.22835	N	0.998674	B	0.25105	0.118	B	0.28991	0.097	T	0.53514	-0.8428	10	0.22706	T	0.39	-3.8309	10.4702	0.44633	0.5027:0.0:0.4973:0.0	.	170	Q495T6	MMEL1_HUMAN	M	161;170	ENSP00000288709:T161M;ENSP00000367668:T170M	ENSP00000288709:T161M	T	-	2	0	MMEL1	2530664	0.000000	0.05858	0.557000	0.28306	0.934000	0.57294	-0.596000	0.05720	-0.392000	0.07751	-0.490000	0.04691	ACG		0.687	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		6	5	0	0	0	0	6	5				
CAMTA1	23261	broad.mit.edu	37	1	7724486	7724486	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:7724486G>T	ENST00000303635.7	+	9	2086	c.1879G>T	c.(1879-1881)Gtc>Ttc	p.V627F	CAMTA1_ENST00000439411.2_Missense_Mutation_p.V627F	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	627					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACCCCTCCCCGTCGAGCAGAA	0.652			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2		NA		Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					0				ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(1879-1881)GTC>TTC		calmodulin-binding transcription activator 1							103.0	120.0	114.0					1																	7724486		2203	4299	6502	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724486G>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1879G>T	1.37:g.7724486G>T	ENSP00000306522:p.Val627Phe						p.V627F	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2086	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	627					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.1879G>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	a	5.784	0.328911	0.10956	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.20069	2.1;2.1	5.11	-4.29	0.03721	.	1.366400	0.04311	N	0.348965	T	0.11965	0.0291	N	0.08118	0	0.09310	N	0.999995	B	0.09022	0.002	B	0.12156	0.007	T	0.32402	-0.9908	10	0.19590	T	0.45	-0.6122	14.8834	0.70550	0.7042:0.2053:0.0905:0.0	.	627	Q9Y6Y1	CMTA1_HUMAN	F	627	ENSP00000306522:V627F;ENSP00000402561:V627F	ENSP00000306522:V627F	V	+	1	0	CAMTA1	7647073	0.576000	0.26700	0.239000	0.24122	0.446000	0.32137	-0.096000	0.11059	-1.353000	0.02191	-0.463000	0.05309	GTC		0.652	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		79	81	1	0	2.27e-54	3.15e-54	79	81				
NPPB	4879	broad.mit.edu	37	1	11918291	11918291	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:11918291G>A	ENST00000376468.3	-	2	465	c.368C>T	c.(367-369)tCc>tTc	p.S123F		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	123					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|protein complex (GO:0043234)	diuretic hormone activity (GO:0008613)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)	CAGGCCACTGGAGGAGCTGAT	0.602																																						uc001atj.2		NA																	0				ovary(2)	2						c.(367-369)TCC>TTC		natriuretic peptide precursor B preproprotein	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)						42.0	38.0	40.0					1																	11918291		2203	4300	6503	SO:0001583	missense	4879				body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity	g.chr1:11918291G>A	BC025785	CCDS140.1	1p36.2	2014-01-30	2010-11-09		ENSG00000120937	ENSG00000120937		"""Endogenous ligands"""	7940	protein-coding gene	gene with protein product		600295	"""natriuretic peptide precursor B"""			2597152	Standard	NM_002521		Approved		uc001atj.3	P16860	OTTHUMG00000002389	ENST00000376468.3:c.368C>T	1.37:g.11918291G>A	ENSP00000365651:p.Ser123Phe						p.S123F	NM_002521	NP_002512	P16860	ANFB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	470	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	123					B0ZBE9|Q6FGY0|Q9P2Q7	Missense_Mutation	SNP	ENST00000376468.3	37	c.368C>T	CCDS140.1	.	.	.	.	.	.	.	.	.	.	G	5.304	0.241538	0.10077	.	.	ENSG00000120937	ENST00000376468	T	0.22945	1.93	4.47	-3.16	0.05217	.	.	.	.	.	T	0.11196	0.0273	N	0.13003	0.285	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.28299	-1.0048	9	0.29301	T	0.29	.	3.3029	0.06989	0.3436:0.0:0.3272:0.3293	.	123	P16860	ANFB_HUMAN	F	123	ENSP00000365651:S123F	ENSP00000365651:S123F	S	-	2	0	NPPB	11840878	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.977000	0.03782	-0.850000	0.04152	-0.397000	0.06425	TCC		0.602	NPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006854.1	NM_002521		23	32	0	0	0	0	23	32				
EPHA2	1969	broad.mit.edu	37	1	16477390	16477390	+	Splice_Site	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:16477390C>G	ENST00000358432.5	-	2	308		c.e2+1		EPHA2_ENST00000461614.1_Intron	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2						activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GGCTTACATACCCCTTTGCCA	0.617																																						uc001aya.1		NA																	0				lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.e2+1		ephrin receptor EphA2 precursor	Dasatinib(DB01254)						113.0	108.0	110.0					1																	16477390		2203	4300	6503	SO:0001630	splice_region_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16477390C>G	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.153+1G>C	1.37:g.16477390C>G						EPHA2_uc010oca.1_Splice_Site_p.G51_splice	p.G51_splice	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	2	290	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B5A968|Q8N3Z2	Splice_Site	SNP	ENST00000358432.5	37	c.153_splice	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446407	0.63178	.	.	ENSG00000142627	ENST00000358432	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3285	0.82997	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPHA2	16349977	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	6.715000	0.74697	2.623000	0.88846	0.655000	0.94253	.		0.617	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431	Intron	37	74	0	0	0	0	37	74				
ARID1A	8289	broad.mit.edu	37	1	27100151	27100151	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:27100151C>A	ENST00000324856.7	+	16	4318	c.3947C>A	c.(3946-3948)tCg>tAg	p.S1316*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.S1316*|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.S933*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1316					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AACCCAGACTCGGGGATGTAT	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NA		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(3946-3948)TCG>TAG		AT rich interactive domain 1A isoform a							55.0	63.0	61.0					1																	27100151		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27100151C>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3947C>A	1.37:g.27100151C>A	ENSP00000320485:p.Ser1316*					ARID1A_uc001bmt.1_Nonsense_Mutation_p.S1315*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.S1316*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.S933*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.S162*|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	p.S1316*	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	16	4320	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1316					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.3947C>A	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	41	9.093824	0.99064	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.02	5.02	0.67125	.	0.210060	0.42682	D	0.000663	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0136	14.1866	0.65609	0.0:0.8505:0.1495:0.0	.	.	.	.	X	1316;1316;933	.	ENSP00000320485:S1316X	S	+	2	0	ARID1A	26972738	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.494000	0.66905	2.627000	0.88993	0.655000	0.94253	TCG		0.587	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		41	38	1	0	9.39e-22	1.27e-21	41	38				
RLF	6018	broad.mit.edu	37	1	40705888	40705888	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:40705888G>C	ENST00000372771.4	+	8	5541	c.5514G>C	c.(5512-5514)gaG>gaC	p.E1838D		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1838					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CAATTCATGAGAACCTGACTG	0.398																																						uc001cfc.3		NA																	0				ovary(2)|pancreas(1)	3						c.(5512-5514)GAG>GAC		rearranged L-myc fusion							134.0	130.0	132.0					1																	40705888		2203	4300	6503	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40705888G>C		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.5514G>C	1.37:g.40705888G>C	ENSP00000361857:p.Glu1838Asp					RLF_uc001cfd.3_Missense_Mutation_p.E1529D	p.E1838D	NM_012421	NP_036553	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	5545	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1838					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.5514G>C	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	8.057	0.767281	0.15983	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.14640	2.49	5.35	4.37	0.52481	.	0.336446	0.30762	N	0.008923	T	0.07234	0.0183	N	0.08118	0	0.35278	D	0.781111	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.20405	-1.0276	10	0.31617	T	0.26	-14.6988	11.8638	0.52482	0.0:0.1301:0.7356:0.1343	.	1531;1838	F5H2M5;Q13129	.;RLF_HUMAN	D	1838;1531	ENSP00000361857:E1838D	ENSP00000361857:E1838D	E	+	3	2	RLF	40478475	0.923000	0.31300	1.000000	0.80357	0.951000	0.60555	0.147000	0.16202	2.941000	0.99782	0.655000	0.94253	GAG		0.398	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		15	85	0	0	0	0	15	85				
RIMS3	9783	broad.mit.edu	37	1	41101587	41101587	+	Splice_Site	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:41101587C>A	ENST00000372684.3	-	4	829		c.e4+1		RIMS3_ENST00000372683.1_Splice_Site	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3						calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			GCTGCACGCACGTGCCGTCGG	0.667																																						uc001cfu.1		NA																	0					0						c.e4+1		regulating synaptic membrane exocytosis 3							76.0	69.0	71.0					1																	41101587		2203	4300	6503	SO:0001630	splice_region_variant	9783				neurotransmitter transport	cell junction|synapse		g.chr1:41101587C>A	BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.359+1G>T	1.37:g.41101587C>A						RIMS3_uc001cfv.1_Splice_Site_p.T120_splice	p.T120_splice	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)		4	828	-	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)						D3DPV8|Q92511|X5D7U7	Splice_Site	SNP	ENST00000372684.3	37	c.359_splice	CCDS30687.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900430	0.92035	.	.	ENSG00000117016	ENST00000372684;ENST00000372683	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9164	0.79521	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RIMS3	40874174	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.575000	0.82447	2.626000	0.88956	0.650000	0.86243	.		0.667	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1	NM_014747	Intron	14	55	1	0	1.15e-07	1.36e-07	14	55				
EIF2B3	8891	broad.mit.edu	37	1	45444037	45444037	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:45444037C>T	ENST00000360403.2	-	3	370	c.244G>A	c.(244-246)Gct>Act	p.A82T	EIF2B3_ENST00000372183.3_Missense_Mutation_p.A82T|EIF2B3_ENST00000480675.1_5'UTR	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	82					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCCATGTCAGCGTCATCAGGA	0.363																																					Colon(26;357 658 2581 11857 12657)	uc001cmt.1		NA																	0				ovary(1)	1						c.(244-246)GCT>ACT		eukaryotic translation initiation factor 2B,							213.0	208.0	210.0					1																	45444037		2203	4300	6503	SO:0001583	missense	8891				negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity	g.chr1:45444037C>T	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.244G>A	1.37:g.45444037C>T	ENSP00000353575:p.Ala82Thr					EIF2B3_uc001cmu.1_Missense_Mutation_p.A82T|EIF2B3_uc001cmv.1_Missense_Mutation_p.A82T|EIF2B3_uc001cmw.2_Missense_Mutation_p.A82T	p.A82T	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN			3	371	-	Acute lymphoblastic leukemia(166;0.155)		82					B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Missense_Mutation	SNP	ENST00000360403.2	37	c.244G>A	CCDS517.1	.	.	.	.	.	.	.	.	.	.	c	8.204	0.798827	0.16397	.	.	ENSG00000070785	ENST00000360403;ENST00000372183;ENST00000372182	D;D;T	0.94046	-3.34;-3.34;-0.74	5.98	2.56	0.30785	Nucleotidyl transferase (1);	0.530450	0.20150	N	0.098166	D	0.84088	0.5395	N	0.13168	0.305	0.25107	N	0.990741	B;B;B	0.12013	0.005;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.70278	-0.4916	10	0.21014	T	0.42	-0.3322	9.1487	0.36948	0.0:0.6433:0.0:0.3567	.	82;82;82	Q9NR50-2;Q9NR50-3;Q9NR50	.;.;EI2BG_HUMAN	T	82	ENSP00000353575:A82T;ENSP00000361257:A82T;ENSP00000361256:A82T	ENSP00000353575:A82T	A	-	1	0	EIF2B3	45216624	0.056000	0.20664	0.863000	0.33907	0.441000	0.31987	0.810000	0.27183	0.801000	0.34066	-0.142000	0.14014	GCT		0.363	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365		62	106	0	0	0	0	62	106				
WDR78	79819	broad.mit.edu	37	1	67292591	67292591	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:67292591A>C	ENST00000371026.3	-	15	2306	c.2251T>G	c.(2251-2253)Tac>Gac	p.Y751D	WDR78_ENST00000431318.1_Missense_Mutation_p.Y464D|RP11-342H21.2_ENST00000456389.1_RNA	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	751					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GCAACGTCGTAAACAACAGAA	0.398																																						uc001dcx.2		NA																	0				ovary(2)	2						c.(2251-2253)TAC>GAC		WD repeat domain 78 isoform 1							118.0	119.0	119.0					1																	67292591		2203	4300	6503	SO:0001583	missense	79819							g.chr1:67292591A>C	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.2251T>G	1.37:g.67292591A>C	ENSP00000360065:p.Tyr751Asp					WDR78_uc009waw.2_Missense_Mutation_p.Y464D|WDR78_uc009wax.2_RNA	p.Y751D	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN			15	2307	-			751			WD 5.		A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.2251T>G	CCDS635.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.333400	0.41297	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	T;T;T	0.60548	1.56;0.18;0.18	5.16	3.96	0.45880	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.390843	0.29892	N	0.010928	T	0.41259	0.1151	L	0.54323	1.7	0.30733	N	0.747058	P;P	0.44241	0.658;0.829	B;P	0.48488	0.219;0.579	T	0.38286	-0.9668	10	0.39692	T	0.17	-17.3447	5.9323	0.19146	0.7638:0.0:0.0871:0.149	.	464;751	Q5VTH9-3;Q5VTH9	.;WDR78_HUMAN	D	751;464;484	ENSP00000360065:Y751D;ENSP00000393182:Y464D;ENSP00000433682:Y484D	ENSP00000360065:Y751D	Y	-	1	0	WDR78	67065179	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	2.203000	0.42752	1.941000	0.56285	0.454000	0.30748	TAC		0.398	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		21	94	0	0	0	0	21	94				
PIGK	10026	broad.mit.edu	37	1	77627356	77627356	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:77627356C>A	ENST00000370812.3	-	7	648	c.625G>T	c.(625-627)Gca>Tca	p.A209S	PIGK_ENST00000370813.5_Missense_Mutation_p.A133S|PIGK_ENST00000359130.1_Missense_Mutation_p.A209S|PIGK_ENST00000445065.1_Missense_Mutation_p.A115S|PIGK_ENST00000478391.1_5'UTR	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	209					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TACATGGATGCTCCTTGGCAA	0.358																																						uc001dhk.2		NA																	0				ovary(2)|pancreas(1)	3						c.(625-627)GCA>TCA		phosphatidylinositol glycan anchor biosynthesis,							105.0	99.0	101.0					1																	77627356		2203	4300	6503	SO:0001583	missense	10026				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding	g.chr1:77627356C>A	AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"""Phosphatidylinositol glycan anchor biosynthesis"""	8965	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	605087	"""phosphatidylinositol glycan, class K"""			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.625G>T	1.37:g.77627356C>A	ENSP00000359848:p.Ala209Ser					PIGK_uc010orj.1_Missense_Mutation_p.A133S|PIGK_uc009wbx.2_Missense_Mutation_p.A115S|PIGK_uc001dhl.1_Missense_Mutation_p.A209S	p.A209S	NM_005482	NP_005473	Q92643	GPI8_HUMAN			7	670	-			209			Lumenal (Potential).		B2R7K3|B4E2M3|O14822|Q5TG77	Missense_Mutation	SNP	ENST00000370812.3	37	c.625G>T	CCDS674.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140572	0.56936	.	.	ENSG00000142892	ENST00000370812;ENST00000445065;ENST00000370813;ENST00000359130	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.27866	0.0686	L	0.31371	0.925	0.80722	D	1	B;B;B;B	0.29188	0.236;0.236;0.016;0.116	B;B;B;B	0.37091	0.241;0.241;0.06;0.101	T	0.13019	-1.0525	10	0.44086	T	0.13	-25.0228	19.045	0.93016	0.0:1.0:0.0:0.0	.	133;115;209;209	B4E2M3;B1AK81;A6NEM5;Q92643	.;.;.;GPI8_HUMAN	S	209;115;133;209	ENSP00000359848:A209S;ENSP00000388854:A115S;ENSP00000359849:A133S;ENSP00000352041:A209S	ENSP00000352041:A209S	A	-	1	0	PIGK	77399944	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.440000	0.80464	2.560000	0.86352	0.650000	0.86243	GCA		0.358	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1	NM_005482		35	59	1	0	1.36e-19	1.82e-19	35	59				
COL11A1	1301	broad.mit.edu	37	1	103405901	103405901	+	Silent	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:103405901A>T	ENST00000370096.3	-	43	3678	c.3366T>A	c.(3364-3366)ccT>ccA	p.P1122P	COL11A1_ENST00000353414.4_Silent_p.P1083P|COL11A1_ENST00000512756.1_Silent_p.P1006P|COL11A1_ENST00000358392.2_Silent_p.P1134P	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1122	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CGTCTTCCCCAGGGGAGCCGG	0.463																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3364-3366)CCT>CCA		alpha 1 type XI collagen isoform A							53.0	59.0	57.0					1																	103405901		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103405901A>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3366T>A	1.37:g.103405901A>T						COL11A1_uc001duk.2_Silent_p.P318P|COL11A1_uc001dum.2_Silent_p.P1134P|COL11A1_uc001dun.2_Silent_p.P1083P|COL11A1_uc009weh.2_Silent_p.P1006P	p.P1122P	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	43	3684	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1122			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.3366T>A	CCDS778.1																																																																																				0.463	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		25	39	0	0	0	0	25	39				
GJA8	2703	broad.mit.edu	37	1	147380527	147380527	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:147380527A>T	ENST00000369235.1	+	1	445	c.445A>T	c.(445-447)Agg>Tgg	p.R149W	GJA8_ENST00000240986.4_Missense_Mutation_p.R149W			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	149					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GACCCTGCTGAGGACCTACAT	0.607																																					Melanoma(76;1255 1795 8195 52096)	uc001epu.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(445-447)AGG>TGG		connexin 50							94.0	99.0	97.0					1																	147380527		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380527A>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.445A>T	1.37:g.147380527A>T	ENSP00000358238:p.Arg149Trp						p.R149W	NM_005267	NP_005258	P48165	CXA8_HUMAN			2	508	+	all_hematologic(923;0.0276)		149			Cytoplasmic (Potential).		A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.445A>T	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	a	17.23	3.337415	0.60963	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.97811	-4.55;-4.55	5.06	0.98	0.19750	.	0.000000	0.85682	D	0.000000	D	0.97676	0.9238	M	0.72118	2.19	0.54753	D	0.999987	D	0.89917	1.0	D	0.77557	0.99	D	0.97379	0.9981	10	0.87932	D	0	.	12.1999	0.54319	0.5875:0.4125:0.0:0.0	.	149	P48165	CXA8_HUMAN	W	149	ENSP00000240986:R149W;ENSP00000358238:R149W	ENSP00000240986:R149W	R	+	1	2	GJA8	145847151	0.997000	0.39634	1.000000	0.80357	0.930000	0.56654	0.692000	0.25482	0.214000	0.20742	-0.619000	0.04042	AGG		0.607	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		20	115	0	0	0	0	20	115				
FMO4	2329	broad.mit.edu	37	1	171310604	171310604	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:171310604G>T	ENST00000367749.3	+	10	1633	c.1303G>T	c.(1303-1305)Gat>Tat	p.D435Y		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	435					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGCCTACATGGATGATATCGC	0.473																																					Pancreas(24;816 862 7754 7993 32832)	uc001gho.2		NA																	0				kidney(2)|skin(1)	3						c.(1303-1305)GAT>TAT		flavin containing monooxygenase 4							92.0	78.0	82.0					1																	171310604		2203	4300	6503	SO:0001583	missense	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171310604G>T	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.1303G>T	1.37:g.171310604G>T	ENSP00000356723:p.Asp435Tyr						p.D435Y	NM_002022	NP_002013	P31512	FMO4_HUMAN			10	1520	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		435					Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	c.1303G>T	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140338	0.56936	.	.	ENSG00000076258	ENST00000367749	T	0.60171	0.21	5.52	5.52	0.82312	.	0.125899	0.64402	D	0.000019	T	0.72542	0.3473	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76143	-0.3067	10	0.62326	D	0.03	-22.2089	13.7257	0.62756	0.0755:0.0:0.9245:0.0	.	435	P31512	FMO4_HUMAN	Y	435	ENSP00000356723:D435Y	ENSP00000356723:D435Y	D	+	1	0	FMO4	169577228	1.000000	0.71417	0.919000	0.36401	0.198000	0.23893	7.749000	0.85096	2.590000	0.87494	0.655000	0.94253	GAT		0.473	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		18	34	1	0	1.45e-14	1.89e-14	18	34				
QSOX1	5768	broad.mit.edu	37	1	180159622	180159622	+	Missense_Mutation	SNP	C	C	T	rs143670617	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:180159622C>T	ENST00000367602.3	+	10	1269	c.1195C>T	c.(1195-1197)Cat>Tat	p.H399Y	QSOX1_ENST00000367600.5_Missense_Mutation_p.H399Y			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	399	ERV/ALR sulfhydryl oxidase. {ECO:0000255|PROSITE-ProRule:PRU00654}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GAGTGAGCCGCATTTCCGGGG	0.557																																						uc001gnz.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1195-1197)CAT>TAT		quiescin Q6 sulfhydryl oxidase 1 isoform a		C	TYR/HIS,TYR/HIS	0,4406		0,0,2203	157.0	142.0	147.0		1195,1195	4.6	1.0	1	dbSNP_134	147	16,8584	11.9+/-42.8	1,14,4285	yes	missense,missense	QSOX1	NM_001004128.2,NM_002826.4	83,83	1,14,6488	TT,TC,CC		0.186,0.0,0.123	probably-damaging,probably-damaging	399/605,399/748	180159622	16,12990	2203	4300	6503	SO:0001583	missense	5768				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	g.chr1:180159622C>T	U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.1195C>T	1.37:g.180159622C>T	ENSP00000356574:p.His399Tyr					QSOX1_uc001gny.2_Missense_Mutation_p.H399Y|QSOX1_uc001goa.2_Missense_Mutation_p.H399Y	p.H399Y	NM_002826	NP_002817	O00391	QSOX1_HUMAN			10	1270	+			399			ERV/ALR sulfhydryl oxidase.		Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	ENST00000367602.3	37	c.1195C>T	CCDS1337.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.834753	0.71373	0.0	0.00186	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.42900	0.96;2.31	4.57	4.57	0.56435	Erv1/Alr (2);ERV/ALR sulphydryl oxidase (1);	0.169009	0.53938	D	0.000054	T	0.54663	0.1872	M	0.74467	2.265	0.40723	D	0.982678	D;D;D	0.69078	0.995;0.991;0.997	P;P;D	0.63793	0.83;0.754;0.918	T	0.55636	-0.8110	10	0.11794	T	0.64	-11.9957	9.017	0.36175	0.1651:0.6748:0.1601:0.0	.	399;399;399	A8K477;O00391;O00391-2	.;QSOX1_HUMAN;.	Y	399	ENSP00000356574:H399Y;ENSP00000356572:H399Y	ENSP00000356572:H399Y	H	+	1	0	QSOX1	178426245	0.993000	0.37304	0.989000	0.46669	0.954000	0.61252	3.344000	0.52174	2.097000	0.63578	0.462000	0.41574	CAT		0.557	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		50	121	0	0	0	0	50	121				
RGL1	23179	broad.mit.edu	37	1	183876207	183876207	+	Missense_Mutation	SNP	C	C	T	rs371044087		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:183876207C>T	ENST00000360851.3	+	14	1712	c.1534C>T	c.(1534-1536)Cgg>Tgg	p.R512W	RGL1_ENST00000539189.1_Missense_Mutation_p.R483W|RGL1_ENST00000304685.4_Missense_Mutation_p.R547W|RGL1_ENST00000536277.1_Missense_Mutation_p.R510W			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	512					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GCCCAAGCCTCGGAAGAGCAT	0.557																																						uc001gqo.2		NA																	0				breast(5)|ovary(4)|lung(2)	11						c.(1534-1536)CGG>TGG		ral guanine nucleotide dissociation		C	TRP/ARG	0,4406		0,0,2203	46.0	42.0	43.0		1639	3.0	1.0	1		43	1,8599	1.2+/-3.3	0,1,4299	no	missense	RGL1	NM_015149.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	547/804	183876207	1,13005	2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183876207C>T	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1534C>T	1.37:g.183876207C>T	ENSP00000354097:p.Arg512Trp					RGL1_uc010pof.1_Missense_Mutation_p.R317W|RGL1_uc001gqm.2_Missense_Mutation_p.R547W|RGL1_uc010pog.1_Missense_Mutation_p.R510W|RGL1_uc010poh.1_Missense_Mutation_p.R510W|RGL1_uc010poi.1_Missense_Mutation_p.R483W	p.R512W	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN			14	1691	+			512					Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.1534C>T		.	.	.	.	.	.	.	.	.	.	C	17.01	3.280193	0.59758	0.0	1.16E-4	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.04	2.96	0.34315	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.44477	0.1295	L	0.42245	1.32	0.58432	D	0.999999	D;D;B;D;D	0.89917	1.0;1.0;0.002;1.0;1.0	D;D;B;D;D	0.76071	0.987;0.972;0.009;0.948;0.948	T	0.25082	-1.0142	10	0.34782	T	0.22	.	13.4608	0.61225	0.3938:0.6062:0.0:0.0	.	483;510;317;512;547	F5H6U6;B7Z2W5;F5H3C3;Q9NZL6;Q5SXQ6	.;.;.;RGL1_HUMAN;.	W	547;547;510;317;512;483	ENSP00000303192:R547W;ENSP00000356501:R547W;ENSP00000438662:R510W;ENSP00000354097:R512W;ENSP00000437355:R483W	ENSP00000303192:R547W	R	+	1	2	RGL1	182142830	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.561000	0.36342	1.101000	0.41535	-0.310000	0.09108	CGG		0.557	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		7	8	0	0	0	0	7	8				
ASPM	259266	broad.mit.edu	37	1	197091420	197091420	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:197091420C>G	ENST00000367409.4	-	15	3866	c.3610G>C	c.(3610-3612)Gag>Cag	p.E1204Q	ASPM_ENST00000367408.1_Missense_Mutation_p.E454Q|ASPM_ENST00000294732.7_Missense_Mutation_p.E1204Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1204	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGTATAGCTCTGAAGTATTT	0.363																																						uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(3610-3612)GAG>CAG		asp (abnormal spindle)-like, microcephaly							37.0	38.0	38.0					1																	197091420		2203	4298	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197091420C>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3610G>C	1.37:g.197091420C>G	ENSP00000356379:p.Glu1204Gln					ASPM_uc001gtv.2_Missense_Mutation_p.E1204Q|ASPM_uc001gtw.3_Intron	p.E1204Q	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			15	3867	-			1204			CH 2.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.3610G>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217275	0.79352	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.58060	0.36;1.62;1.33	5.74	5.74	0.90152	Calponin homology domain (3);	0.460708	0.21887	N	0.067656	T	0.56352	0.1979	L	0.47716	1.5	0.36132	D	0.846194	P;D	0.56035	0.93;0.974	P;P	0.49887	0.462;0.625	T	0.55405	-0.8146	10	0.16896	T	0.51	.	19.9077	0.97014	0.0:1.0:0.0:0.0	.	1204;1204	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	Q	1204;1204;454	ENSP00000356379:E1204Q;ENSP00000294732:E1204Q;ENSP00000356378:E454Q	ENSP00000294732:E1204Q	E	-	1	0	ASPM	195358043	0.985000	0.35326	0.485000	0.27403	0.990000	0.78478	2.657000	0.46724	2.714000	0.92807	0.585000	0.79938	GAG		0.363	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		18	45	0	0	0	0	18	45				
PIK3C2B	5287	broad.mit.edu	37	1	204425081	204425081	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:204425081G>A	ENST00000367187.3	-	12	2402	c.1846C>T	c.(1846-1848)Cgc>Tgc	p.R616C	PIK3C2B_ENST00000496872.1_5'UTR|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R616C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	616					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TCATGCTTGCGGCTCCCGGGC	0.612																																						uc001haw.2		NA																	0				lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(1846-1848)CGC>TGC		phosphoinositide-3-kinase, class 2 beta							74.0	70.0	71.0					1																	204425081		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204425081G>A	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1846C>T	1.37:g.204425081G>A	ENSP00000356155:p.Arg616Cys					PIK3C2B_uc010pqv.1_Missense_Mutation_p.R616C|PIK3C2B_uc001hax.1_Missense_Mutation_p.R616C|PIK3C2B_uc009xbd.1_RNA	p.R616C	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		12	2325	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		616					O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.1846C>T	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017678	0.35606	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.44083	0.93;0.93	5.28	4.37	0.52481	.	0.436137	0.24937	N	0.034410	T	0.40448	0.1117	M	0.64997	1.995	0.36710	D	0.880572	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.42361	-0.9456	10	0.38643	T	0.18	.	12.0986	0.53769	0.0812:0.0:0.9188:0.0	.	616;616	F5GWN5;O00750	.;P3C2B_HUMAN	C	616	ENSP00000356155:R616C;ENSP00000400561:R616C	ENSP00000356155:R616C	R	-	1	0	PIK3C2B	202691704	0.995000	0.38212	0.989000	0.46669	0.959000	0.62525	1.526000	0.35964	1.225000	0.43566	-0.254000	0.11334	CGC		0.612	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		39	64	0	0	0	0	39	64				
KCTD3	51133	broad.mit.edu	37	1	215752341	215752341	+	Splice_Site	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:215752341A>G	ENST00000259154.4	+	7	691		c.e7-1			NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3						protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TTCTCTTTATAGGTATTCCTA	0.333																																						uc001hks.2		NA																	0				ovary(3)	3						c.e7-2		potassium channel tetramerisation domain							57.0	57.0	57.0					1																	215752341		2203	4300	6503	SO:0001630	splice_region_variant	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215752341A>G	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.398-1A>G	1.37:g.215752341A>G						KCTD3_uc001hkt.2_Splice_Site_p.G133_splice|KCTD3_uc010pub.1_Splice_Site_p.G31_splice|KCTD3_uc009xdn.2_5'Flank	p.G133_splice	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	7	692	+								A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Splice_Site	SNP	ENST00000259154.4	37	c.398_splice	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	A	10.52	1.373053	0.24857	.	.	ENSG00000136636	ENST00000259154;ENST00000366945;ENST00000448333	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3436	0.60559	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCTD3	213818964	1.000000	0.71417	0.980000	0.43619	0.102000	0.19082	5.554000	0.67294	2.165000	0.68154	0.460000	0.39030	.		0.333	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121	Intron	4	28	0	0	0	0	4	28				
EGLN1	54583	broad.mit.edu	37	1	231556851	231556851	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:231556851T>G	ENST00000366641.3	-	1	3939	c.784A>C	c.(784-786)Aag>Cag	p.K262Q	EGLN1_ENST00000476717.1_5'Flank	NM_022051.2	NP_071334.1			egl-9 family hypoxia-inducible factor 1											breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)				CCGGGCTCCTTGCCCTCGATC	0.592																																						uc001huv.2		NA																	0					0						c.(784-786)AAG>CAG		egl nine homolog 1	Vitamin C(DB00126)						96.0	89.0	91.0					1																	231556851		2203	4300	6503	SO:0001583	missense	54583				negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding	g.chr1:231556851T>G	AJ310543	CCDS1595.1	1q42.1	2013-08-21	2013-08-21	2001-08-24	ENSG00000135766	ENSG00000135766		"""Zinc fingers, MYND-type"""	1232	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 2"""	606425	"""EGL nine (C.elegans) homolog 1"", ""egl nine homolog 1 (C. elegans)"""	C1orf12		11056053	Standard	NM_022051		Approved	SM-20, PHD2, ZMYND6, HIFPH2	uc001huv.2	Q9GZT9	OTTHUMG00000038027	ENST00000366641.3:c.784A>C	1.37:g.231556851T>G	ENSP00000355601:p.Lys262Gln					EGLN1_uc001huu.3_5'Flank	p.K262Q	NM_022051	NP_071334	Q9GZT9	EGLN1_HUMAN			1	3940	-		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)	262						Missense_Mutation	SNP	ENST00000366641.3	37	c.784A>C	CCDS1595.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.082983	0.76642	.	.	ENSG00000135766	ENST00000366641	D	0.86432	-2.12	4.94	4.94	0.65067	Prolyl 4-hydroxylase, alpha subunit (1);	0.053430	0.64402	D	0.000001	D	0.86606	0.5973	M	0.77103	2.36	0.58432	D	0.999995	B	0.06786	0.001	B	0.08055	0.003	T	0.83229	-0.0064	10	0.27785	T	0.31	-16.9696	14.8883	0.70587	0.0:0.0:0.0:1.0	.	262	Q9GZT9	EGLN1_HUMAN	Q	262	ENSP00000355601:K262Q	ENSP00000355601:K262Q	K	-	1	0	EGLN1	229623474	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.934000	0.56553	1.954000	0.56735	0.460000	0.39030	AAG		0.592	EGLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092879.1	NM_022051		58	66	0	0	0	0	58	66				
SLC35F3	148641	broad.mit.edu	37	1	234367481	234367481	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:234367481G>A	ENST00000366617.3	+	2	623	c.395G>A	c.(394-396)cGa>cAa	p.R132Q	SLC35F3_ENST00000366618.3_Missense_Mutation_p.R201Q			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	132					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTGAAGCAGCGATACAGGTAG	0.597																																						uc001hwa.1		NA																	0				ovary(2)	2						c.(394-396)CGA>CAA		solute carrier family 35, member F3							97.0	92.0	93.0					1																	234367481		2203	4300	6503	SO:0001583	missense	148641				transport	integral to membrane		g.chr1:234367481G>A		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.395G>A	1.37:g.234367481G>A	ENSP00000355576:p.Arg132Gln					SLC35F3_uc001hvy.1_Missense_Mutation_p.R201Q	p.R132Q	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		2	623	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	132					Q5TDD6|Q8N9C9	Missense_Mutation	SNP	ENST00000366617.3	37	c.395G>A		.	.	.	.	.	.	.	.	.	.	G	12.01	1.808387	0.31961	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.45668	0.89;0.91	4.47	4.47	0.54385	.	0.085006	0.85682	D	0.000000	T	0.38772	0.1053	L	0.51422	1.61	0.42902	D	0.994231	P;D	0.57899	0.913;0.981	B;P	0.47206	0.171;0.541	T	0.13124	-1.0521	10	0.13853	T	0.58	-2.1846	10.9001	0.47047	0.0871:0.0:0.9129:0.0	.	132;201	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	Q	201;132	ENSP00000355577:R201Q;ENSP00000355576:R132Q	ENSP00000355576:R132Q	R	+	2	0	SLC35F3	232434104	1.000000	0.71417	0.992000	0.48379	0.265000	0.26407	7.141000	0.77330	2.294000	0.77228	0.491000	0.48974	CGA		0.597	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1	NM_173508		23	138	0	0	0	0	23	138				
TRIM58	25893	broad.mit.edu	37	1	248028155	248028155	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:248028155T>A	ENST00000366481.3	+	3	713	c.665T>A	c.(664-666)cTg>cAg	p.L222Q		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	222						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.L222P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGAGCCGGCTGGTCCAGCAG	0.692																																						uc001ido.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(664-666)CTG>CAG		tripartite motif-containing 58							20.0	24.0	23.0					1																	248028155		2201	4300	6501	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248028155T>A	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.665T>A	1.37:g.248028155T>A	ENSP00000355437:p.Leu222Gln						p.L222Q	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	713	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	222			Potential.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.665T>A	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.397795	0.42512	.	.	ENSG00000162722	ENST00000366481	T	0.06449	3.3	4.24	4.24	0.50183	.	0.000000	0.41500	D	0.000879	T	0.32556	0.0833	M	0.94142	3.5	0.37802	D	0.927748	D	0.89917	1.0	D	0.74674	0.984	T	0.51309	-0.8722	10	0.87932	D	0	.	11.6494	0.51279	0.0:0.0:0.0:1.0	.	222	Q8NG06	TRI58_HUMAN	Q	222	ENSP00000355437:L222Q	ENSP00000355437:L222Q	L	+	2	0	TRIM58	246094778	0.722000	0.28017	0.121000	0.21740	0.125000	0.20455	4.415000	0.59809	1.910000	0.55303	0.533000	0.62120	CTG		0.692	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		7	22	0	0	0	0	7	22				
OR2W3	343171	broad.mit.edu	37	1	248059405	248059405	+	Missense_Mutation	SNP	G	G	A	rs139271211		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:248059405G>A	ENST00000360358.3	+	1	517	c.517G>A	c.(517-519)Gag>Aag	p.E173K	OR2W3_ENST00000537741.1_Missense_Mutation_p.E173K	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGGCACCACGAGGTGGACCA	0.657																																						uc001idp.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(517-519)GAG>AAG		olfactory receptor, family 2, subfamily W,							106.0	84.0	92.0					1																	248059405		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059405G>A	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.517G>A	1.37:g.248059405G>A	ENSP00000353516:p.Glu173Lys					OR2W3_uc010pzb.1_Missense_Mutation_p.E173K	p.E173K	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	786	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		173			Extracellular (Potential).		Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.517G>A	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	G	4.079	0.012659	0.07912	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00123	8.7;8.7	5.28	-5.48	0.02592	GPCR, rhodopsin-like superfamily (1);	2.256030	0.01301	N	0.010303	T	0.00073	0.0002	N	0.05050	-0.12	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.25641	-1.0126	10	0.11485	T	0.65	.	2.7418	0.05255	0.2447:0.3921:0.2562:0.1069	.	173	Q7Z3T1	OR2W3_HUMAN	K	173	ENSP00000445853:E173K;ENSP00000353516:E173K	ENSP00000353516:E173K	E	+	1	0	OR2W3	246126028	0.000000	0.05858	0.000000	0.03702	0.442000	0.32017	-2.805000	0.00758	-0.553000	0.06158	-0.660000	0.03859	GAG		0.657	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		41	76	0	0	0	0	41	76				
FAM208B	54906	broad.mit.edu	37	10	5789010	5789010	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:5789010C>G	ENST00000328090.5	+	15	4251	c.3626C>G	c.(3625-3627)tCa>tGa	p.S1209*	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1209																	GTGGACTCATCATCAGCCTCT	0.473																																						uc001iij.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3625-3627)TCA>TGA		hypothetical protein LOC54906							87.0	88.0	88.0					10																	5789010		2031	4202	6233	SO:0001587	stop_gained	54906							g.chr10:5789010C>G	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3626C>G	10.37:g.5789010C>G	ENSP00000328426:p.Ser1209*					C10orf18_uc001iik.2_Nonsense_Mutation_p.S53*	p.S1209*	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN			15	4251	+			1209					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Nonsense_Mutation	SNP	ENST00000328090.5	37	c.3626C>G	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	43	9.844433	0.99277	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	.	.	.	4.3	4.3	0.51218	.	1.541920	0.04047	N	0.304072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.1284	0.53930	0.0:1.0:0.0:0.0	.	.	.	.	X	1209;404	.	ENSP00000328426:S1209X	S	+	2	0	C10orf18	5829016	0.000000	0.05858	0.016000	0.15963	0.010000	0.07245	0.438000	0.21559	2.205000	0.71048	0.591000	0.81541	TCA		0.473	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		19	69	0	0	0	0	19	69				
FAM208B	54906	broad.mit.edu	37	10	5790610	5790610	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:5790610G>A	ENST00000328090.5	+	15	5851	c.5226G>A	c.(5224-5226)aaG>aaA	p.K1742K		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1742																	GTGAAACAAAGGAGCTATTGA	0.498																																						uc001iij.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(5224-5226)AAG>AAA		hypothetical protein LOC54906							68.0	68.0	68.0					10																	5790610		2031	4194	6225	SO:0001819	synonymous_variant	54906							g.chr10:5790610G>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5226G>A	10.37:g.5790610G>A						C10orf18_uc001iik.2_Silent_p.K586K	p.K1742K	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN			15	5851	+			1742					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.5226G>A	CCDS41485.1																																																																																				0.498	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		13	40	0	0	0	0	13	40				
FBXO18	84893	broad.mit.edu	37	10	5953002	5953002	+	Silent	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:5953002G>T	ENST00000362091.4	+	6	1237	c.1122G>T	c.(1120-1122)acG>acT	p.T374T	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379999.5_Silent_p.T425T	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	374					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CCAGCTCCACGGTGACCATGC	0.582																																						uc001iis.2		NA																	0				ovary(2)|skin(1)	3						c.(1120-1122)ACG>ACT		F-box only protein, helicase, 18 isoform 2							114.0	100.0	104.0					10																	5953002		2203	4300	6503	SO:0001819	synonymous_variant	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5953002G>T	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1122G>T	10.37:g.5953002G>T						FBXO18_uc001iir.2_Silent_p.T300T|FBXO18_uc009xig.2_Silent_p.T300T|FBXO18_uc001iit.2_Silent_p.T425T	p.T374T	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN			6	1217	+			374					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Silent	SNP	ENST00000362091.4	37	c.1122G>T	CCDS7072.1																																																																																				0.582	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		17	96	1	0	1.34e-09	1.64e-09	17	96				
PARD3	56288	broad.mit.edu	37	10	34690830	34690830	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:34690830C>T	ENST00000374789.3	-	6	1055	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	PARD3_ENST00000545260.1_Missense_Mutation_p.E200K|PARD3_ENST00000350537.4_Missense_Mutation_p.E244K|PARD3_ENST00000545693.1_Missense_Mutation_p.E244K|PARD3_ENST00000340077.5_Missense_Mutation_p.E244K|PARD3_ENST00000544292.1_5'UTR|PARD3_ENST00000374776.1_Missense_Mutation_p.E244K|PARD3_ENST00000374790.3_Missense_Mutation_p.E200K|PARD3_ENST00000346874.4_Missense_Mutation_p.E244K|PARD3_ENST00000374788.3_Missense_Mutation_p.E244K|PARD3_ENST00000374773.1_Missense_Mutation_p.E244K|PARD3_ENST00000374794.3_Missense_Mutation_p.E200K	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	244					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTATCCTCTTCTGTCCCATCC	0.428																																						uc010qej.1		NA																	0				ovary(1)	1						c.(730-732)GAA>AAA		partitioning-defective protein 3 homolog							220.0	189.0	200.0					10																	34690830		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34690830C>T	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.730G>A	10.37:g.34690830C>T	ENSP00000363921:p.Glu244Lys					PARD3_uc010qek.1_Missense_Mutation_p.E244K|PARD3_uc010qel.1_Missense_Mutation_p.E244K|PARD3_uc010qem.1_Missense_Mutation_p.E244K|PARD3_uc010qen.1_Missense_Mutation_p.E244K|PARD3_uc010qeo.1_Missense_Mutation_p.E244K|PARD3_uc010qep.1_Missense_Mutation_p.E200K|PARD3_uc010qeq.1_Missense_Mutation_p.E200K|PARD3_uc001ixo.1_5'UTR|PARD3_uc001ixp.1_Missense_Mutation_p.E109K|PARD3_uc001ixq.1_Missense_Mutation_p.E244K|PARD3_uc001ixr.1_Missense_Mutation_p.E244K|PARD3_uc001ixt.1_Missense_Mutation_p.E65K|PARD3_uc001ixu.1_Missense_Mutation_p.E200K	p.E244K	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			6	730	-		Breast(68;0.0707)	244					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.730G>A	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686312	0.68157	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773	T;T;T;T;T;T;T;T;T;T;T	0.41065	1.01;2.53;1.01;1.01;1.01;2.56;1.01;2.52;1.01;1.01;1.01	5.93	5.93	0.95920	PDZ/DHR/GLGF (1);	0.188167	0.53938	D	0.000042	T	0.47414	0.1444	L	0.51422	1.61	0.80722	D	1	B;B;P;B;P;B;B;B;B;B;P;B;P	0.44690	0.407;0.3;0.76;0.395;0.554;0.395;0.395;0.032;0.032;0.275;0.747;0.046;0.841	B;B;P;B;P;B;B;B;B;B;P;B;P	0.49561	0.253;0.142;0.492;0.393;0.492;0.393;0.393;0.066;0.066;0.22;0.46;0.041;0.615	T	0.23119	-1.0197	10	0.06757	T	0.87	.	19.9346	0.97133	0.0:1.0:0.0:0.0	.	200;200;244;244;244;244;244;244;200;244;244;244;244	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.	K	244;200;244;244;244;200;244;200;244;244;244	ENSP00000443147:E244K;ENSP00000440857:E200K;ENSP00000363921:E244K;ENSP00000363920:E244K;ENSP00000340591:E244K;ENSP00000363926:E200K;ENSP00000311986:E244K;ENSP00000363922:E200K;ENSP00000363908:E244K;ENSP00000341844:E244K;ENSP00000363905:E244K	ENSP00000341844:E244K	E	-	1	0	PARD3	34730836	0.995000	0.38212	0.945000	0.38365	0.949000	0.60115	3.761000	0.55242	2.812000	0.96745	0.555000	0.69702	GAA		0.428	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		58	119	0	0	0	0	58	119				
ANKRD30A	91074	broad.mit.edu	37	10	37419231	37419231	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:37419231T>G	ENST00000602533.1	+	3	366	c.267T>G	c.(265-267)taT>taG	p.Y89*	ANKRD30A_ENST00000374660.1_Nonsense_Mutation_p.Y89*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.Y89*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	145					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTCTCCATTATGCTGTTTATA	0.433																																						uc001iza.1		NA																	0				ovary(7)|breast(1)|skin(1)	9						c.(265-267)TAT>TAG		ankyrin repeat domain 30A							86.0	78.0	80.0					10																	37419231		1924	4154	6078	SO:0001587	stop_gained	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37419231T>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.267T>G	10.37:g.37419231T>G	ENSP00000473551:p.Tyr89*						p.Y89*	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			3	366	+			145			ANK 3.		Q5W025	Nonsense_Mutation	SNP	ENST00000602533.1	37	c.267T>G		.	.	.	.	.	.	.	.	.	.	.	18.91	3.723230	0.68959	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	.	.	.	2.0	0.852	0.18995	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.2807	0.06915	0.0:0.2328:0.0:0.7672	.	.	.	.	X	89	.	ENSP00000354432:Y89X	Y	+	3	2	ANKRD30A	37459237	0.998000	0.40836	0.234000	0.24042	0.024000	0.10985	0.137000	0.15995	0.917000	0.36895	0.234000	0.17832	TAT		0.433	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		16	32	0	0	0	0	16	32				
AGAP4	119016	broad.mit.edu	37	10	46322017	46322017	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:46322017C>T	ENST00000448048.2	-	7	1463	c.1338G>A	c.(1336-1338)tcG>tcA	p.S446S	AGAP4_ENST00000430779.2_5'Flank	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	446	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(1)|lung(1)|ovary(1)	3						TGTTTTGGATCGACTGCAGGG	0.552																																						uc001jcx.3		NA																	0				ovary(1)	1						c.(1336-1338)TCG>TCA		ArfGAP with GTPase domain, ankyrin repeat and PH							17.0	16.0	17.0					10																	46322017		1949	3766	5715	SO:0001819	synonymous_variant	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46322017C>T	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.1338G>A	10.37:g.46322017C>T						AGAP4_uc010qfl.1_Silent_p.S469S|AGAP4_uc001jcy.3_Silent_p.S361S|uc010qfm.1_5'Flank	p.S446S	NM_133446	NP_597703	Q96P64	AGAP4_HUMAN			7	1464	-			446			Arf-GAP.			Silent	SNP	ENST00000448048.2	37	c.1338G>A	CCDS7215.1																																																																																				0.552	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		63	48	0	0	0	0	63	48				
SLC18A3	6572	broad.mit.edu	37	10	50820232	50820232	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:50820232C>T	ENST00000374115.3	+	1	1886	c.1446C>T	c.(1444-1446)cgC>cgT	p.R482R	CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395559.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	482					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GTTCCGAGCGCGATGTGCTGC	0.667																																						uc001jhw.2		NA																	0				ovary(2)	2						c.(1444-1446)CGC>CGT		vesicular acetylcholine transporter							63.0	54.0	57.0					10																	50820232		2203	4300	6503	SO:0001819	synonymous_variant	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50820232C>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1446C>T	10.37:g.50820232C>T						CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	p.R482R	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	1886	+			482			Cytoplasmic (Potential).		B2R7S1	Silent	SNP	ENST00000374115.3	37	c.1446C>T	CCDS7231.1																																																																																				0.667	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		40	42	0	0	0	0	40	42				
ABCC2	1244	broad.mit.edu	37	10	101591889	101591889	+	Splice_Site	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:101591889G>A	ENST00000370449.4	+	23	3371		c.e23+1			NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2						cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GTTTGCCGGCGTAAGTATCTC	0.433																																						uc001kqf.2		NA																	0				ovary(1)	1						c.e23+1		ATP-binding cassette, sub-family C (CFTR/MRP),	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						66.0	64.0	65.0					10																	101591889		2203	4300	6503	SO:0001630	splice_region_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101591889G>A	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3258+1G>A	10.37:g.101591889G>A							p.G1086_splice	NM_000392	NP_000383	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	23	3397	+		Colorectal(252;0.234)						B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Splice_Site	SNP	ENST00000370449.4	37	c.3258_splice	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026480	0.54683	.	.	ENSG00000023839	ENST00000370449	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0168	0.97479	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCC2	101581879	1.000000	0.71417	0.983000	0.44433	0.401000	0.30781	5.724000	0.68500	2.737000	0.93849	0.591000	0.81541	.		0.433	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	Intron	10	63	0	0	0	0	10	63				
GFRA1	2674	broad.mit.edu	37	10	118029071	118029071	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:118029071T>A	ENST00000355422.6	-	4	912	c.362A>T	c.(361-363)tAt>tTt	p.Y121F	GFRA1_ENST00000490345.1_5'Flank|GFRA1_ENST00000439649.3_Missense_Mutation_p.Y121F|GFRA1_ENST00000369236.1_Missense_Mutation_p.Y121F	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	121					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		AACTGGTTCATATGGGGAATC	0.403																																					Ovarian(128;329 1725 45498 46808 50759)	uc001lcj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(361-363)TAT>TTT		GDNF family receptor alpha 1 isoform a							138.0	125.0	130.0					10																	118029071		2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:118029071T>A	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.362A>T	10.37:g.118029071T>A	ENSP00000347591:p.Tyr121Phe					GFRA1_uc001lci.2_Missense_Mutation_p.Y121F|GFRA1_uc009xyr.2_Missense_Mutation_p.Y121F	p.Y121F	NM_005264	NP_005255	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	4	1060	-		Lung NSC(174;0.21)	121					A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.362A>T	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.593036	0.86953	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000369234	T;T;T;T	0.59224	0.8;0.8;0.28;0.28	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.73528	0.3598	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.991;0.994	T	0.75033	-0.3460	10	0.54805	T	0.06	-13.0463	15.9451	0.79787	0.0:0.0:0.0:1.0	.	121;121	P56159;P56159-2	GFRA1_HUMAN;.	F	121	ENSP00000393725:Y121F;ENSP00000358239:Y121F;ENSP00000347591:Y121F;ENSP00000358237:Y121F	ENSP00000347591:Y121F	Y	-	2	0	GFRA1	118019061	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.301000	0.78850	2.177000	0.69029	0.533000	0.62120	TAT		0.403	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		8	49	0	0	0	0	8	49				
DOCK1	1793	broad.mit.edu	37	10	129183096	129183096	+	Missense_Mutation	SNP	G	G	C	rs188270898	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:129183096G>C	ENST00000280333.6	+	38	3896	c.3787G>C	c.(3787-3789)Ggg>Cgg	p.G1263R		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1263	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CCAGCGGGACGGGTACCAGGC	0.562																																						uc001ljt.2		NA																	0				central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9						c.(3787-3789)GGG>CGG		dedicator of cytokinesis 1							105.0	105.0	105.0					10																	129183096		2103	4225	6328	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129183096G>C	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.3787G>C	10.37:g.129183096G>C	ENSP00000280333:p.Gly1263Arg					DOCK1_uc010qun.1_Missense_Mutation_p.G1284R|DOCK1_uc009yaq.2_Missense_Mutation_p.G258R	p.G1263R	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	38	3851	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1263			DHR-2.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.3787G>C		.	.	.	.	.	.	.	.	.	.	G	14.49	2.549718	0.45383	.	.	ENSG00000150760	ENST00000280333	T	0.01629	4.72	4.84	4.84	0.62591	.	0.060772	0.64402	D	0.000004	T	0.03390	0.0098	L	0.52126	1.63	0.58432	D	0.999994	B;B;P	0.47034	0.222;0.042;0.889	B;B;B	0.43754	0.118;0.012;0.43	T	0.64162	-0.6472	10	0.25106	T	0.35	.	18.1238	0.89580	0.0:0.0:1.0:0.0	.	1263;1329;1263	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	R	1263	ENSP00000280333:G1263R	ENSP00000280333:G1263R	G	+	1	0	DOCK1	129073086	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.498000	0.97972	2.523000	0.85059	0.563000	0.77884	GGG		0.562	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		13	71	0	0	0	0	13	71				
UBQLNL	143630	broad.mit.edu	37	11	5537198	5537198	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:5537198T>A	ENST00000380184.1	-	1	737	c.474A>T	c.(472-474)aaA>aaT	p.K158N	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	158										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GGGTATGCACTTTGGGTGCAT	0.507																																						uc001maz.3		NA																	0				large_intestine(2)|skin(1)	3						c.(472-474)AAA>AAT		ubiquilin-like							139.0	135.0	136.0					11																	5537198		2201	4297	6498	SO:0001583	missense	143630							g.chr11:5537198T>A	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.474A>T	11.37:g.5537198T>A	ENSP00000369531:p.Lys158Asn					HBG2_uc001mak.1_Intron	p.K158N	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	759	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	158					Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	c.474A>T	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	T	8.489	0.861603	0.17178	.	.	ENSG00000175518	ENST00000380184	T	0.48522	0.81	4.87	-3.89	0.04193	.	0.316186	0.22472	N	0.059617	T	0.38026	0.1025	M	0.65975	2.015	0.09310	N	1	B	0.25007	0.116	B	0.23852	0.049	T	0.36480	-0.9746	10	0.87932	D	0	.	6.8698	0.24115	0.0:0.2259:0.1457:0.6284	.	158	Q8IYU4	UBQLN_HUMAN	N	158	ENSP00000369531:K158N	ENSP00000369531:K158N	K	-	3	2	UBQLNL	5493774	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	-0.713000	0.05007	-0.623000	0.05618	-0.242000	0.12053	AAA		0.507	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		28	49	0	0	0	0	28	49				
OR52N4	390072	broad.mit.edu	37	11	5776293	5776293	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:5776293C>G	ENST00000317254.3	+	1	371	c.323C>G	c.(322-324)aCc>aGc	p.T108S	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TTCACCCACACCTTCACAGGG	0.483																																						uc001mbu.2		NA																	0				ovary(1)|skin(1)	2						c.(322-324)ACC>AGC		olfactory receptor, family 52, subfamily N,							161.0	158.0	159.0					11																	5776293		2201	4297	6498	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776293C>G	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.323C>G	11.37:g.5776293C>G	ENSP00000323224:p.Thr108Ser					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.T108S	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	371	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	108			Helical; Name=3; (Potential).		B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.323C>G	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	C	4.669	0.124392	0.08931	.	.	ENSG00000181074	ENST00000317254	T	0.00355	7.91	5.97	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.127160	0.35320	N	0.003285	T	0.00144	0.0004	N	0.16656	0.425	0.09310	N	1	B	0.30406	0.278	B	0.35813	0.211	T	0.17806	-1.0357	10	0.06236	T	0.91	.	7.5358	0.27710	0.0:0.7096:0.1392:0.1511	.	108	Q8NGI2	O52N4_HUMAN	S	108	ENSP00000323224:T108S	ENSP00000323224:T108S	T	+	2	0	OR52N4	5732869	0.000000	0.05858	0.911000	0.35937	0.788000	0.44548	-0.806000	0.04525	1.542000	0.49330	0.557000	0.71058	ACC		0.483	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		18	72	0	0	0	0	18	72				
OR52N5	390075	broad.mit.edu	37	11	5799295	5799295	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:5799295G>A	ENST00000317093.2	-	1	602	c.570C>T	c.(568-570)caC>caT	p.H190H	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		CTACAGACATGTGGTCGCAGT	0.423																																						uc010qzn.1		NA																	0				skin(2)	2						c.(568-570)CAC>CAT		olfactory receptor, family 52, subfamily N,							159.0	137.0	144.0					11																	5799295		2123	4089	6212	SO:0001819	synonymous_variant	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799295G>A	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.570C>T	11.37:g.5799295G>A						TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.H190H	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	570	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	190			Extracellular (Potential).		B9EH12|Q6IFG2	Silent	SNP	ENST00000317093.2	37	c.570C>T	CCDS31397.1																																																																																				0.423	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		4	65	0	0	0	0	4	65				
ST5	6764	broad.mit.edu	37	11	8737365	8737365	+	Splice_Site	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:8737365G>C	ENST00000534127.1	-	9	2015	c.1630C>G	c.(1630-1632)Ctt>Gtt	p.L544V	ST5_ENST00000530991.1_Splice_Site_p.L16V|ST5_ENST00000530438.1_Splice_Site_p.L124V|ST5_ENST00000526099.1_Splice_Site_p.L57V|ST5_ENST00000357665.1_Splice_Site_p.L544V|ST5_ENST00000313726.6_Splice_Site_p.L544V|ST5_ENST00000526757.1_Splice_Site_p.L124V	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	544					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TTCAGGGAAAGCTGGCGTGGG	0.632																																						uc001mgt.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1630-1632)CTT>GTT		suppression of tumorigenicity 5 isoform 1							53.0	45.0	48.0					11																	8737365		2200	4295	6495	SO:0001630	splice_region_variant	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8737365G>C	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1630-1C>G	11.37:g.8737365G>C						ST5_uc009yfr.2_Missense_Mutation_p.L124V|ST5_uc001mgu.2_Missense_Mutation_p.L124V|ST5_uc001mgv.2_Missense_Mutation_p.L544V|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Missense_Mutation_p.L57V	p.L544V	NM_213618	NP_998783	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	6	1816	-			544					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.1630C>G	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739479	0.69304	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527;ENST00000531060;ENST00000526057;ENST00000528196;ENST00000530580	T;T;T;T;T;T;T;T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.15652	0.0377	L	0.37630	1.12	0.51233	D	0.999913	P;P;D	0.54601	0.605;0.571;0.967	B;B;P	0.48524	0.184;0.163;0.58	T	0.01367	-1.1373	10	0.33141	T	0.24	-16.4218	19.3225	0.94248	0.0:0.0:1.0:0.0	.	57;124;544	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	V	124;544;544;16;544;57;124;16;154;16;16;33;16;124;124	ENSP00000435097:L124V;ENSP00000433528:L544V;ENSP00000319678:L544V;ENSP00000432887:L16V;ENSP00000350294:L544V;ENSP00000436808:L57V;ENSP00000436802:L124V;ENSP00000433588:L16V;ENSP00000437096:L16V;ENSP00000431580:L16V;ENSP00000433858:L33V;ENSP00000431564:L124V	ENSP00000319678:L544V	L	-	1	0	ST5	8693941	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.499000	0.45372	2.640000	0.89533	0.655000	0.94253	CTT		0.632	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418	Missense_Mutation	18	42	0	0	0	0	18	42				
IPO7	10527	broad.mit.edu	37	11	9459832	9459832	+	Splice_Site	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:9459832G>A	ENST00000379719.3	+	22	2837	c.2695G>A	c.(2695-2697)Gag>Aag	p.E899K		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	899	Asp-rich.				innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		tgatgaAACCGGTAAGGGATT	0.428																																						uc001mho.2		NA																	0				lung(1)|breast(1)	2						c.(2695-2697)GAG>AAG		importin 7							40.0	44.0	43.0					11																	9459832		2200	4293	6493	SO:0001630	splice_region_variant	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9459832G>A	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2695+1G>A	11.37:g.9459832G>A							p.E899K	NM_006391	NP_006382	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	22	2837	+			899			Asp-rich.		A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.2695G>A	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900328	0.52227	.	.	ENSG00000205339	ENST00000379719	T	0.69175	-0.38	5.06	5.06	0.68205	Armadillo-type fold (1);	0.048107	0.85682	D	0.000000	T	0.60958	0.2309	L	0.52573	1.65	0.80722	D	1	P	0.35923	0.528	B	0.36289	0.221	T	0.58589	-0.7610	10	0.11182	T	0.66	.	18.0317	0.89286	0.0:0.0:1.0:0.0	.	899	O95373	IPO7_HUMAN	K	899	ENSP00000369042:E899K	ENSP00000369042:E899K	E	+	1	0	IPO7	9416408	1.000000	0.71417	0.978000	0.43139	0.377000	0.30045	9.054000	0.93866	2.351000	0.79841	0.305000	0.20034	GAG		0.428	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391	Missense_Mutation	32	33	0	0	0	0	32	33				
SLC6A5	9152	broad.mit.edu	37	11	20673889	20673889	+	Missense_Mutation	SNP	C	C	T	rs151244472	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:20673889C>T	ENST00000525748.1	+	15	2398	c.2125C>T	c.(2125-2127)Cgc>Tgc	p.R709C	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	709					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGGCTCTTACCGCTATCCTAA	0.488													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16977	0.0		0.0	False		,,,				2504	0.0					uc001mqd.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(2125-2127)CGC>TGC		solute carrier family 6 (neurotransmitter	Glycine(DB00145)	C	CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	230.0	205.0	213.0		2125	5.9	1.0	11	dbSNP_134	213	0,8600		0,0,4300	yes	missense	SLC6A5	NM_004211.3	180	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging	709/798	20673889	4,13002	2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20673889C>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.2125C>T	11.37:g.20673889C>T	ENSP00000434364:p.Arg709Cys					SLC6A5_uc009yic.2_Missense_Mutation_p.R474C	p.R709C	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			15	2398	+			709					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.2125C>T	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301272	0.81136	9.08E-4	0.0	ENSG00000165970	ENST00000525748	T	0.74526	-0.85	5.88	5.88	0.94601	.	0.160017	0.56097	D	0.000024	T	0.78960	0.4366	L	0.43923	1.385	0.51012	D	0.999907	D	0.54601	0.967	P	0.53062	0.717	T	0.78700	-0.2102	10	0.54805	T	0.06	.	20.3017	0.98615	0.0:1.0:0.0:0.0	.	709	Q9Y345	SC6A5_HUMAN	C	709	ENSP00000434364:R709C	ENSP00000434364:R709C	R	+	1	0	SLC6A5	20630465	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.711000	0.68400	2.800000	0.96347	0.650000	0.86243	CGC		0.488	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		18	107	0	0	0	0	18	107				
DCDC1	341019	broad.mit.edu	37	11	31327197	31327197	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:31327197C>A	ENST00000452803.1	-	6	920	c.719G>T	c.(718-720)gGa>gTa	p.G240V	RP1-296L11.1_ENST00000528872.1_RNA|DCDC1_ENST00000597505.1_Missense_Mutation_p.G240V	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	240	Doublecortin. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AAAGGGCTCTCCCGTTGAAAC	0.413																																						uc001msv.2		NA																	0				skin(1)	1						c.(718-720)GGA>GTA		doublecortin domain containing 1							120.0	119.0	120.0					11																	31327197		2202	4299	6501	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:31327197C>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.719G>T	11.37:g.31327197C>A	ENSP00000389792:p.Gly240Val					DCDC1_uc001msu.1_5'UTR	p.G240V	NM_181807	NP_861523	P59894	DCDC1_HUMAN			6	921	-	Lung SC(675;0.225)		240			Doublecortin.		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	c.719G>T	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844409	0.51164	.	.	ENSG00000188682	ENST00000452803	D	0.94184	-3.37	5.95	5.95	0.96441	Doublecortin domain (3);	0.000000	0.53938	D	0.000051	D	0.96049	0.8713	M	0.84326	2.69	0.49582	D	0.999808	D	0.76494	0.999	D	0.64776	0.929	D	0.95818	0.8847	10	0.87932	D	0	-0.1916	10.3234	0.43780	0.1346:0.7964:0.0:0.069	.	240	P59894	DCDC1_HUMAN	V	240	ENSP00000389792:G240V	ENSP00000343496:G240V	G	-	2	0	DCDC1	31283773	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.422000	0.34826	2.810000	0.96702	0.650000	0.86243	GGA		0.413	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807		31	69	1	0	6.06e-23	8.21e-23	31	69				
OR5W2	390148	broad.mit.edu	37	11	55681277	55681277	+	Missense_Mutation	SNP	C	C	T	rs202102548		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:55681277C>T	ENST00000344514.1	-	1	781	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R261Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAACTTGGCCGGAAATACAT	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		15067	0.0		0.0	False		,,,				2504	0.001				Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1		NA																	1	Substitution - Missense(1)	p.R261W(1)	pancreas(1)	ovary(1)|skin(1)	2						c.(781-783)CGG>CAG		olfactory receptor, family 5, subfamily W,		C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	80.0	92.0	88.0		782	5.0	0.0	11		88	1,8591	1.2+/-3.3	0,1,4295	yes	missense	OR5W2	NM_001001960.1	43	0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	261/311	55681277	2,12992	2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681277C>T	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.782G>A	11.37:g.55681277C>T	ENSP00000342448:p.Arg261Gln						p.R261Q	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	782	-			261			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000344514.1	37	c.782G>A	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026923	0.35797	2.27E-4	1.16E-4	ENSG00000187612	ENST00000344514	T	0.37235	1.21	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36167	N	0.002753	T	0.31857	0.0810	L	0.56199	1.76	0.09310	N	1	P	0.41524	0.753	B	0.42188	0.379	T	0.16748	-1.0392	10	0.10636	T	0.68	.	9.4436	0.38684	0.0:0.9031:0.0:0.0969	.	261	Q8NH69	OR5W2_HUMAN	Q	261	ENSP00000342448:R261Q	ENSP00000342448:R261Q	R	-	2	0	OR5W2	55437853	0.000000	0.05858	0.047000	0.18901	0.876000	0.50452	-0.083000	0.11286	2.311000	0.77944	0.549000	0.68633	CGG		0.443	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		6	69	0	0	0	0	6	69				
OR5B3	441608	broad.mit.edu	37	11	58170004	58170004	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:58170004C>G	ENST00000309403.2	-	1	878	c.879G>C	c.(877-879)aaG>aaC	p.K293N		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCTTCACTTCCTTGTTCCTCA	0.438																																						uc010rkf.1		NA																	0					0						c.(877-879)AAG>AAC		olfactory receptor, family 5, subfamily B,							155.0	130.0	138.0					11																	58170004		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170004C>G	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.879G>C	11.37:g.58170004C>G	ENSP00000308270:p.Lys293Asn						p.K293N	NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN			1	879	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	293			Cytoplasmic (Potential).		Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.879G>C	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	c	6.628	0.484265	0.12641	.	.	ENSG00000172769	ENST00000309403	T	0.45668	0.89	3.91	-0.2	0.13216	.	0.319514	0.22680	N	0.056952	T	0.42108	0.1188	M	0.79011	2.435	0.24433	N	0.994565	B	0.28584	0.216	B	0.33042	0.157	T	0.45673	-0.9245	10	0.72032	D	0.01	-20.2098	7.962	0.30076	0.0:0.5131:0.0:0.4869	.	293	Q8NH48	OR5B3_HUMAN	N	293	ENSP00000308270:K293N	ENSP00000308270:K293N	K	-	3	2	OR5B3	57926580	0.000000	0.05858	0.968000	0.41197	0.163000	0.22366	-2.834000	0.00741	0.084000	0.17077	0.650000	0.86243	AAG		0.438	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		6	94	0	0	0	0	6	94				
TMEM132A	54972	broad.mit.edu	37	11	60699222	60699222	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:60699222G>T	ENST00000453848.2	+	6	1236	c.1078G>T	c.(1078-1080)Ggc>Tgc	p.G360C	TMEM132A_ENST00000005286.4_Missense_Mutation_p.G361C			Q24JP5	T132A_HUMAN	transmembrane protein 132A	360						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CACTGGTGGGGGCGTAGCGGT	0.567																																						uc001nqj.2		NA																	0				skin(1)	1						c.(1078-1080)GGC>TGC		transmembrane protein 132A isoform b							115.0	109.0	111.0					11																	60699222		2203	4299	6502	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60699222G>T	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1078G>T	11.37:g.60699222G>T	ENSP00000405823:p.Gly360Cys					TMEM132A_uc001nqi.2_Missense_Mutation_p.G361C|TMEM132A_uc001nqk.2_Missense_Mutation_p.G373C|TMEM132A_uc001nql.1_Missense_Mutation_p.G373C|TMEM132A_uc001nqm.2_5'Flank	p.G360C	NM_178031	NP_821174	Q24JP5	T132A_HUMAN			6	1271	+			360			Extracellular (Potential).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.1078G>T	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340097	0.60963	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.06768	3.27;3.26	4.79	3.86	0.44501	.	0.721665	0.12161	N	0.493983	T	0.13628	0.0330	N	0.14661	0.345	0.39189	D	0.962932	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.987;0.991;0.995;0.996	T	0.14309	-1.0477	10	0.87932	D	0	.	8.7803	0.34787	0.0816:0.0:0.7679:0.1505	.	349;111;360;361	Q24JP5-3;Q24JP5-4;Q24JP5;Q24JP5-2	.;.;T132A_HUMAN;.	C	111;360;361	ENSP00000405823:G360C;ENSP00000005286:G361C	ENSP00000005286:G361C	G	+	1	0	TMEM132A	60455798	0.596000	0.26866	0.993000	0.49108	0.865000	0.49528	0.956000	0.29202	2.393000	0.81446	0.455000	0.32223	GGC		0.567	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		27	131	1	0	1.69e-08	2.02e-08	27	131				
AHNAK	79026	broad.mit.edu	37	11	62289123	62289123	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:62289123T>C	ENST00000378024.4	-	5	13040	c.12766A>G	c.(12766-12768)Aag>Gag	p.K4256E	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4256					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGGAGATCTTGGGGGCTTTG	0.478																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(12766-12768)AAG>GAG		AHNAK nucleoprotein isoform 1							212.0	222.0	218.0					11																	62289123		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62289123T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12766A>G	11.37:g.62289123T>C	ENSP00000367263:p.Lys4256Glu					AHNAK_uc001ntk.1_Intron	p.K4256E	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	13066	-		Melanoma(852;0.155)	4256					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.12766A>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	t	11.66	1.704510	0.30232	.	.	ENSG00000124942	ENST00000378024	T	0.01234	5.13	4.88	4.88	0.63580	.	0.160951	0.29113	N	0.013102	T	0.06554	0.0168	H	0.94620	3.56	0.35636	D	0.810611	D	0.56035	0.974	P	0.50659	0.647	T	0.24870	-1.0148	10	0.25751	T	0.34	.	8.9061	0.35523	0.0:0.0848:0.0:0.9152	.	4256	Q09666	AHNK_HUMAN	E	4256	ENSP00000367263:K4256E	ENSP00000367263:K4256E	K	-	1	0	AHNAK	62045699	.	.	0.992000	0.48379	0.011000	0.07611	.	.	1.847000	0.53656	0.444000	0.29173	AAG		0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		61	327	0	0	0	0	61	327				
IGHMBP2	3508	broad.mit.edu	37	11	68675796	68675796	+	Missense_Mutation	SNP	G	G	A	rs138448914	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:68675796G>A	ENST00000255078.3	+	3	551	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	IGHMBP2_ENST00000539224.1_Missense_Mutation_p.R147Q	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	147					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACTTACAGGCGACTGAAAAAG	0.453																																						uc001ook.1		NA																	0					0						c.(439-441)CGA>CAA		immunoglobulin mu binding protein 2		G	GLN/ARG	1,4399	2.1+/-5.4	0,1,2199	83.0	80.0	81.0		440	4.1	1.0	11	dbSNP_134	81	4,8584	3.7+/-12.6	0,4,4290	yes	missense	IGHMBP2	NM_002180.2	43	0,5,6489	AA,AG,GG		0.0466,0.0227,0.0385	probably-damaging	147/994	68675796	5,12983	2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68675796G>A	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.440G>A	11.37:g.68675796G>A	ENSP00000255078:p.Arg147Gln					IGHMBP2_uc001ooj.1_RNA	p.R147Q	NM_002180	NP_002171	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		3	542	+			147					A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.440G>A	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881276	0.91740	2.27E-4	4.66E-4	ENSG00000132740	ENST00000255078;ENST00000539224	D;T	0.92858	-3.12;-1.3	4.09	4.09	0.47781	.	0.156042	0.43110	D	0.000605	D	0.96623	0.8898	M	0.91612	3.225	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.97526	1.0076	10	0.72032	D	0.01	-13.4645	15.2642	0.73649	0.0:0.0:1.0:0.0	.	147	P38935	SMBP2_HUMAN	Q	147	ENSP00000255078:R147Q;ENSP00000440465:R147Q	ENSP00000255078:R147Q	R	+	2	0	IGHMBP2	68432372	1.000000	0.71417	0.989000	0.46669	0.818000	0.46254	9.049000	0.93837	2.117000	0.64856	0.549000	0.68633	CGA		0.453	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		44	57	0	0	0	0	44	57				
PAAF1	80227	broad.mit.edu	37	11	73620473	73620473	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:73620473G>A	ENST00000310571.3	+	7	615	c.562G>A	c.(562-564)Ggg>Agg	p.G188R	PAAF1_ENST00000544909.1_Missense_Mutation_p.G189R|PAAF1_ENST00000541951.1_Missense_Mutation_p.G73R|PAAF1_ENST00000544552.1_Missense_Mutation_p.G171R|PAAF1_ENST00000535604.1_Missense_Mutation_p.G73R|PAAF1_ENST00000536003.1_Missense_Mutation_p.G171R|PAAF1_ENST00000376384.5_Missense_Mutation_p.G171R	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	188					viral process (GO:0016032)	proteasome complex (GO:0000502)				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					CGTTGATCGGGGGAGGAATGT	0.507																																						uc001ouk.1		NA																	0				ovary(1)|skin(1)	2						c.(562-564)GGG>AGG		proteasomal ATPase-associated factor 1							180.0	161.0	167.0					11																	73620473		2200	4293	6493	SO:0001583	missense	80227				interspecies interaction between organisms	proteasome complex	protein binding	g.chr11:73620473G>A	BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"""WD repeat domain containing"""	25687	protein-coding gene	gene with protein product			"""WD repeat domain 71"""	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.562G>A	11.37:g.73620473G>A	ENSP00000311665:p.Gly188Arg					PAAF1_uc001oul.1_Missense_Mutation_p.G171R|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Missense_Mutation_p.G171R	p.G188R	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN			7	596	+	Breast(11;7.42e-05)		188			WD 3.		A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	ENST00000310571.3	37	c.562G>A	CCDS8226.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.18|18.18	3.567608|3.567608	0.65651|0.65651	.|.	.|.	ENSG00000175575|ENSG00000175575	ENST00000540659|ENST00000541951;ENST00000310571;ENST00000504441;ENST00000543814;ENST00000535604;ENST00000542293;ENST00000536003;ENST00000544552;ENST00000546039;ENST00000376384;ENST00000544909	.|T;T;T;T;T;T;T;T;T;T;T	.|0.65549	.|1.8;1.8;-0.16;-0.16;1.8;-0.16;1.8;1.8;1.73;1.8;1.8	5.06|5.06	5.06|5.06	0.68205|0.68205	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000|0.000000	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.81555|0.81555	0.4847|0.4847	M|M	0.85462|0.85462	2.755|2.755	0.51482|0.51482	D|D	0.999923|0.999923	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.84998|0.84998	0.0898|0.0898	6|10	.|0.87932	.|D	.|0	-8.5903|-8.5903	16.9989|16.9989	0.86376|0.86376	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|171;188	.|Q9BRP4-2;Q9BRP4	.|.;PAAF1_HUMAN	E|R	28|73;188;171;171;73;73;171;171;52;171;189	.|ENSP00000441333:G73R;ENSP00000311665:G188R;ENSP00000439747:G171R;ENSP00000438894:G171R;ENSP00000438789:G73R;ENSP00000439143:G73R;ENSP00000438124:G171R;ENSP00000441494:G171R;ENSP00000439877:G52R;ENSP00000365564:G171R;ENSP00000438071:G189R	.|ENSP00000311665:G188R	G|G	+|+	2|1	0|0	PAAF1|PAAF1	73298121|73298121	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.278000|0.278000	0.26855|0.26855	6.707000|6.707000	0.74654|0.74654	2.373000|2.373000	0.80994|0.80994	0.561000|0.561000	0.74099|0.74099	GGG|GGG		0.507	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1	NM_025155		12	85	0	0	0	0	12	85				
MMP13	4322	broad.mit.edu	37	11	102825316	102825316	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:102825316C>G	ENST00000260302.3	-	3	410	c.382G>C	c.(382-384)Gat>Cat	p.D128H	MMP13_ENST00000340273.4_Missense_Mutation_p.D128H	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	128					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	TGAGTCATATCAGGGGTGTAA	0.348																																						uc001phl.2		NA																	0				ovary(2)|skin(1)	3						c.(382-384)GAT>CAT		matrix metalloproteinase 13 preproprotein							75.0	79.0	78.0					11																	102825316		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102825316C>G	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.382G>C	11.37:g.102825316C>G	ENSP00000260302:p.Asp128His						p.D128H	NM_002427	NP_002418	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	3	410	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	128					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.382G>C	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478759	0.63849	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.55760	0.5;0.5	5.99	5.99	0.97316	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75627	0.3875	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75752	-0.3207	10	0.62326	D	0.03	.	20.4756	0.99175	0.0:1.0:0.0:0.0	.	128	P45452	MMP13_HUMAN	H	128	ENSP00000260302:D128H;ENSP00000339672:D128H	ENSP00000260302:D128H	D	-	1	0	MMP13	102330526	1.000000	0.71417	0.996000	0.52242	0.411000	0.31082	7.776000	0.85560	2.847000	0.97988	0.655000	0.94253	GAT		0.348	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		12	79	0	0	0	0	12	79				
C11orf52	91894	broad.mit.edu	37	11	111796827	111796827	+	Silent	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:111796827G>T	ENST00000278601.5	+	4	372	c.276G>T	c.(274-276)gtG>gtT	p.V92V	C11orf52_ENST00000527286.1_3'UTR|DIXDC1_ENST00000529225.1_5'Flank|HSPB2-C11orf52_ENST00000534100.1_3'UTR|RNA5SP351_ENST00000459480.1_RNA|CRYAB_ENST00000527950.1_5'Flank	NM_080659.2	NP_542390.2	Q96A22	CK052_HUMAN	chromosome 11 open reading frame 52	92						extracellular vesicular exosome (GO:0070062)				lung(2)|ovary(1)	3		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-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)		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		CCCGGGAAGTGAAACACGTGC	0.552																																						uc001pmh.2		NA																	0				ovary(1)	1						c.(274-276)GTG>GTT		hypothetical protein LOC91894							102.0	81.0	88.0					11																	111796827		2201	4297	6498	SO:0001819	synonymous_variant	91894							g.chr11:111796827G>T	AK057948	CCDS8353.1	11q23.1	2006-02-06	2006-02-06		ENSG00000149300	ENSG00000149300			30531	protein-coding gene	gene with protein product							Standard	NM_080659		Approved	MGC14839, FLJ25219		Q96A22	OTTHUMG00000166888	ENST00000278601.5:c.276G>T	11.37:g.111796827G>T						C11orf52_uc001pmi.2_Silent_p.V92V	p.V92V	NM_080659	NP_542390	Q96A22	CK052_HUMAN		Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)	5	759	+		all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-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)	92						Silent	SNP	ENST00000278601.5	37	c.276G>T	CCDS8353.1																																																																																				0.552	C11orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391673.1	NM_080659		7	49	1	0	8.13e-05	8.88e-05	7	49				
NCAM1	4684	broad.mit.edu	37	11	113105876	113105876	+	Silent	SNP	G	G	A	rs561652532		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:113105876G>A	ENST00000533760.1	+	13	2030	c.1431G>A	c.(1429-1431)acG>acA	p.T477T	NCAM1_ENST00000401611.2_Silent_p.T604T|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Silent_p.T595T	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	605	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGTTCAAGACGCAGCCAGTCC	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16680	0.0		0.0	False		,,,				2504	0.0					uc009yyq.1		NA																	0				ovary(1)	1						c.(1537-1539)ACG>ACA		neural cell adhesion molecule 1 isoform 3							27.0	32.0	30.0					11																	113105876		2017	4150	6167	SO:0001819	synonymous_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113105876G>A		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1431G>A	11.37:g.113105876G>A							p.T513T	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	15	2233	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	605			Extracellular (Potential).|Fibronectin type-III 1.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Silent	SNP	ENST00000533760.1	37	c.1539G>A																																																																																					0.622	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		5	17	0	0	0	0	5	17				
TECTA	7007	broad.mit.edu	37	11	120984288	120984288	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:120984288C>T	ENST00000392793.1	+	6	922	c.651C>T	c.(649-651)acC>acT	p.T217T	TECTA_ENST00000264037.2_Silent_p.T217T			O75443	TECTA_HUMAN	tectorin alpha	217	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAAACCTCACCAATTTCTTCA	0.468																																						uc010rzo.1		NA																	0				breast(6)|ovary(2)|skin(2)	10	GRCh37	CI031108	TECTA	I		c.(649-651)ACC>ACT		tectorin alpha precursor							70.0	75.0	74.0					11																	120984288		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120984288C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.651C>T	11.37:g.120984288C>T							p.T217T	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	5	651	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	217			NIDO.			Silent	SNP	ENST00000392793.1	37	c.651C>T	CCDS8434.1																																																																																				0.468	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		10	53	0	0	0	0	10	53				
Unknown	0	broad.mit.edu	37	11	124096236	124096236	+	IGR	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr11:124096236C>A								OR10D3 (39284 upstream) : OR8G1 (24186 downstream)																							TCTGTCAGCTCCATGGACCAG	0.478																																						uc010saf.1		NA																	0					0						c.(838-840)TCC>TAC		olfactory receptor, family 8, subfamily G,							71.0	74.0	73.0					11																	124096236		1997	4217	6214	SO:0001628	intergenic_variant	26492					integral to membrane	olfactory receptor activity	g.chr11:124096236C>A																													11.37:g.124096236C>A							p.S280Y	NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	839	+		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	280						Missense_Mutation	SNP		37	c.839C>A																																																																																				0	0.478									22	100	1	0	1.64e-13	2.12e-13	22	100				
ITPR2	3709	broad.mit.edu	37	12	26818845	26818845	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:26818845G>A	ENST00000381340.3	-	14	1965	c.1549C>T	c.(1549-1551)Cag>Tag	p.Q517*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	517					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AAATTCACCTGTGCCAGTATG	0.343																																						uc001rhg.2		NA																	0				kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(1549-1551)CAG>TAG		inositol 1,4,5-triphosphate receptor, type 2							100.0	90.0	93.0					12																	26818845		1821	4084	5905	SO:0001587	stop_gained	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26818845G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1549C>T	12.37:g.26818845G>A	ENSP00000370744:p.Gln517*						p.Q517*	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			14	1966	-	Colorectal(261;0.0847)		517			Cytoplasmic (Potential).		O94773	Nonsense_Mutation	SNP	ENST00000381340.3	37	c.1549C>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	43	10.233073	0.99365	.	.	ENSG00000123104	ENST00000381340	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.0749	0.93156	0.0:0.0:1.0:0.0	.	.	.	.	X	517	.	ENSP00000370744:Q517X	Q	-	1	0	ITPR2	26710112	1.000000	0.71417	0.990000	0.47175	0.803000	0.45373	9.635000	0.98437	2.716000	0.92895	0.591000	0.81541	CAG		0.343	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		21	50	0	0	0	0	21	50				
C12orf40	283461	broad.mit.edu	37	12	40076610	40076610	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:40076610A>C	ENST00000324616.5	+	8	1038	c.884A>C	c.(883-885)aAt>aCt	p.N295T	C12orf40_ENST00000398716.1_Missense_Mutation_p.N218T|C12orf40_ENST00000405531.3_Missense_Mutation_p.N295T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	295										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CTATCAGAGAATTGTGACTCT	0.318																																						uc001rmc.2		NA																	0				ovary(6)	6						c.(883-885)AAT>ACT		hypothetical protein LOC283461							121.0	117.0	119.0					12																	40076610		1841	4078	5919	SO:0001583	missense	283461							g.chr12:40076610A>C	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.884A>C	12.37:g.40076610A>C	ENSP00000317671:p.Asn295Thr					C12orf40_uc009zjv.1_RNA	p.N295T	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN			8	1051	+			295					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.884A>C	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.232081	0.39399	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.50277	0.75;0.76	5.26	5.26	0.73747	.	0.404855	0.23470	N	0.047826	T	0.49372	0.1553	L	0.32530	0.975	0.24401	N	0.994703	P	0.51351	0.944	P	0.52957	0.714	T	0.47182	-0.9137	10	0.66056	D	0.02	.	13.2139	0.59844	1.0:0.0:0.0:0.0	.	295	Q86WS4	CL040_HUMAN	T	295;218;295	ENSP00000383897:N295T;ENSP00000317671:N295T	ENSP00000317671:N295T	N	+	2	0	C12orf40	38362877	0.982000	0.34865	0.761000	0.31378	0.033000	0.12548	4.108000	0.57817	2.289000	0.77006	0.482000	0.46254	AAT		0.318	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		34	81	0	0	0	0	34	81				
ESPL1	9700	broad.mit.edu	37	12	53676136	53676136	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:53676136A>T	ENST00000257934.4	+	14	2799	c.2708A>T	c.(2707-2709)cAg>cTg	p.Q903L	ESPL1_ENST00000552462.1_Missense_Mutation_p.Q903L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	903					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTGCGTGTCCAGGTCCTGCAG	0.577																																					Colon(53;1069 1201 2587 5382)	uc001sck.2		NA																	0				lung(1)|kidney(1)|skin(1)	3						c.(2707-2709)CAG>CTG		separase							141.0	115.0	124.0					12																	53676136		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53676136A>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2708A>T	12.37:g.53676136A>T	ENSP00000257934:p.Gln903Leu					ESPL1_uc001scj.2_Missense_Mutation_p.Q578L|ESPL1_uc010soe.1_Missense_Mutation_p.Q114L	p.Q903L	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			14	2799	+			903						Missense_Mutation	SNP	ENST00000257934.4	37	c.2708A>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	A	13.81	2.347318	0.41599	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.13089	2.62;2.62	4.76	4.76	0.60689	.	0.126503	0.53938	D	0.000045	T	0.25975	0.0633	L	0.61036	1.89	0.33820	D	0.628994	D;B	0.60575	0.988;0.296	P;B	0.60236	0.871;0.027	T	0.35992	-0.9766	10	0.46703	T	0.11	.	7.0069	0.24842	0.9004:0.0:0.0996:0.0	.	114;903	B4DRU1;Q14674	.;ESPL1_HUMAN	L	903;578;903	ENSP00000257934:Q903L;ENSP00000449831:Q903L	ENSP00000257934:Q903L	Q	+	2	0	ESPL1	51962403	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.807000	0.47955	1.999000	0.58509	0.454000	0.30748	CAG		0.577	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		43	90	0	0	0	0	43	90				
OR10A7	121364	broad.mit.edu	37	12	55615024	55615024	+	Silent	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:55615024T>C	ENST00000326258.1	+	1	216	c.216T>C	c.(214-216)tgT>tgC	p.C72C		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TTGAAGTATGTTTCACCTTGG	0.408																																						uc010spf.1		NA																	0				ovary(4)	4						c.(214-216)TGT>TGC		olfactory receptor, family 10, subfamily A,							226.0	220.0	222.0					12																	55615024		2203	4300	6503	SO:0001819	synonymous_variant	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615024T>C	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.216T>C	12.37:g.55615024T>C							p.C72C	NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN			1	216	+			72			Helical; Name=2; (Potential).		Q6IFD5|Q96R19	Silent	SNP	ENST00000326258.1	37	c.216T>C	CCDS31815.1																																																																																				0.408	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			50	171	0	0	0	0	50	171				
PTPRB	5787	broad.mit.edu	37	12	70954538	70954538	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:70954538C>T	ENST00000261266.5	-	15	3720	c.3691G>A	c.(3691-3693)Ggc>Agc	p.G1231S	PTPRB_ENST00000550358.1_Missense_Mutation_p.G1361S|PTPRB_ENST00000550857.1_Missense_Mutation_p.G1141S|PTPRB_ENST00000451516.2_Missense_Mutation_p.G1141S|PTPRB_ENST00000334414.6_Missense_Mutation_p.G1449S|PTPRB_ENST00000551525.1_Missense_Mutation_p.G1448S|PTPRB_ENST00000538708.1_Missense_Mutation_p.G1141S	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1231	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGAACAAGGCCTTGAAACCGC	0.493																																						uc001swb.3		NA																	0				lung(2)|skin(1)	3						c.(3691-3693)GGC>AGC		protein tyrosine phosphatase, receptor type, B							65.0	73.0	70.0					12																	70954538		2008	4178	6186	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70954538C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3691G>A	12.37:g.70954538C>T	ENSP00000261266:p.Gly1231Ser					PTPRB_uc010sto.1_Missense_Mutation_p.G1141S|PTPRB_uc010stp.1_Missense_Mutation_p.G1141S|PTPRB_uc001swc.3_Missense_Mutation_p.G1449S|PTPRB_uc001swa.3_Missense_Mutation_p.G1361S|PTPRB_uc001swd.3_Missense_Mutation_p.G1448S|PTPRB_uc009zrr.1_Missense_Mutation_p.G1328S	p.G1231S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		15	3721	-	Renal(347;0.236)		1231			Fibronectin type-III 14.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.3691G>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	c	4.257	0.046646	0.08243	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.06768	3.26;3.26;3.26;3.26;3.26;3.26;3.26;3.26	5.44	0.319	0.15873	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.488202	0.24254	N	0.040141	T	0.05090	0.0136	N	0.20766	0.605	0.20764	N	0.999859	B;B;B;B;B;B;B	0.23854	0.005;0.002;0.089;0.092;0.01;0.005;0.063	B;B;B;B;B;B;B	0.31869	0.016;0.016;0.137;0.02;0.026;0.044;0.121	T	0.33523	-0.9865	10	0.44086	T	0.13	.	3.3231	0.07057	0.114:0.5136:0.1673:0.2051	.	1141;1141;1328;1448;1449;1231;1361	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	S	1449;1141;1361;1141;1141;1231;1448;1328	ENSP00000334928:G1449S;ENSP00000393028:G1141S;ENSP00000448058:G1361S;ENSP00000438927:G1141S;ENSP00000447302:G1141S;ENSP00000261266:G1231S;ENSP00000448349:G1448S;ENSP00000446982:G1328S	ENSP00000261266:G1231S	G	-	1	0	PTPRB	69240805	0.139000	0.22563	0.006000	0.13384	0.042000	0.13812	0.759000	0.26461	0.131000	0.18576	-0.216000	0.12614	GGC		0.493	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			15	47	0	0	0	0	15	47				
LIN7A	8825	broad.mit.edu	37	12	81331469	81331469	+	Silent	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:81331469C>A	ENST00000552864.1	-	1	235	c.33G>T	c.(31-33)acG>acT	p.T11T	MIR618_ENST00000385287.1_RNA	NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	11					exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CCATGTCTGCCGTGGGAGCCG	0.637																																						uc001szj.1		NA																	0				ovary(1)|skin(1)	2						c.(31-33)ACG>ACT		lin-7 homolog A							28.0	26.0	26.0					12																	81331469		2200	4299	6499	SO:0001819	synonymous_variant	8825				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding	g.chr12:81331469C>A	AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"""mammalian LIN-7 1"""	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.33G>T	12.37:g.81331469C>A						LIN7A_uc001szk.1_RNA|MIR618_hsa-mir-618|MI0003632_5'Flank	p.T11T	NM_004664	NP_004655	O14910	LIN7A_HUMAN			1	226	-			11					A4FTY3|Q147W1|Q6LES3|Q7LDS4	Silent	SNP	ENST00000552864.1	37	c.33G>T	CCDS9021.1																																																																																				0.637	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1			6	13	1	0	0.00198382	0.00207118	6	13				
EEA1	8411	broad.mit.edu	37	12	93221688	93221688	+	Splice_Site	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:93221688C>A	ENST00000322349.8	-	12	1668	c.1404G>T	c.(1402-1404)caG>caT	p.Q468H		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	468	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GCTAGCTTACCTGCTCTTCTA	0.348																																						uc001tck.2		NA																	0				ovary(2)|skin(1)	3						c.(1402-1404)CAG>CAT		early endosome antigen 1, 162kD							157.0	152.0	154.0					12																	93221688		2203	4300	6503	SO:0001630	splice_region_variant	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93221688C>A	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1404+1G>T	12.37:g.93221688C>A							p.Q468H	NM_003566	NP_003557	Q15075	EEA1_HUMAN			12	1669	-			468			Gln/Glu/Lys-rich.|Potential.		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.1404G>T	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450039	0.63290	.	.	ENSG00000102189	ENST00000322349	T	0.79554	-1.28	5.63	5.63	0.86233	.	0.284340	0.24993	N	0.033968	T	0.73241	0.3562	L	0.32530	0.975	0.80722	D	1	P	0.37955	0.612	B	0.34590	0.186	T	0.70981	-0.4724	9	.	.	.	.	19.6715	0.95914	0.0:1.0:0.0:0.0	.	468	Q15075	EEA1_HUMAN	H	468	ENSP00000317955:Q468H	.	Q	-	3	2	EEA1	91745819	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	6.063000	0.71162	2.661000	0.90470	0.585000	0.79938	CAG		0.348	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566	Missense_Mutation	43	129	1	0	1.01e-15	1.32e-15	43	129				
UHRF1BP1L	23074	broad.mit.edu	37	12	100441774	100441774	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:100441774C>A	ENST00000279907.7	-	18	4131	c.3919G>T	c.(3919-3921)Gca>Tca	p.A1307S	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.A957S	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1307										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ATTACTGTTGCAACAGTTTCA	0.279																																						uc001tgq.2		NA																	0				ovary(2)	2						c.(3919-3921)GCA>TCA		UHRF1 (ICBP90) binding protein 1-like isoform a							26.0	27.0	27.0					12																	100441774		2201	4300	6501	SO:0001583	missense	23074							g.chr12:100441774C>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3919G>T	12.37:g.100441774C>A	ENSP00000279907:p.Ala1307Ser					UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.A957S	p.A1307S	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			18	4148	-			1307					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.3919G>T	CCDS31882.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.15|16.15	3.041014|3.041014	0.55003|0.55003	.|.	.|.	ENSG00000111647|ENSG00000111647	ENST00000279907;ENST00000545232|ENST00000548712	T;T|.	0.09911|.	2.94;2.93|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.232504|.	0.45606|.	D|.	0.000355|.	T|T	0.50667|0.50667	0.1629|0.1629	N|N	0.17723|0.17723	0.515|0.515	0.80722|0.80722	D|D	1|1	P|.	0.41313|.	0.745|.	B|.	0.33454|.	0.164|.	T|T	0.45086|0.45086	-0.9285|-0.9285	10|5	0.33940|.	T|.	0.23|.	-17.5042|-17.5042	15.0332|15.0332	0.71723|0.71723	0.0:0.8583:0.1417:0.0|0.0:0.8583:0.1417:0.0	.|.	1307|.	A0JNW5|.	UH1BL_HUMAN|.	S|F	1307;957|67	ENSP00000279907:A1307S;ENSP00000444824:A957S|.	ENSP00000279907:A1307S|.	A|L	-|-	1|3	0|2	UHRF1BP1L|UHRF1BP1L	98965905|98965905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.229000|2.229000	0.42990|0.42990	2.603000|2.603000	0.88011|0.88011	0.467000|0.467000	0.42956|0.42956	GCA|TTG		0.279	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		11	15	1	0	1.59e-06	1.82e-06	11	15				
TDG	6996	broad.mit.edu	37	12	104373699	104373699	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:104373699G>T	ENST00000392872.3	+	3	491	c.257G>T	c.(256-258)gGc>gTc	p.G86V	TDG_ENST00000542036.1_5'Flank|TDG_ENST00000266775.9_Missense_Mutation_p.G82V|TDG_ENST00000544861.1_5'UTR	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	86					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAAAAATCTGGCAAGTCTGCA	0.338								Base excision repair (BER), DNA glycosylases																														uc001tkg.2		NA																	0				ovary(3)|lung(3)	6						c.(256-258)GGC>GTC	BER_DNA_glycosylases	thymine-DNA glycosylase							69.0	69.0	69.0					12																	104373699		2203	4300	6503	SO:0001583	missense	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104373699G>T	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.257G>T	12.37:g.104373699G>T	ENSP00000376611:p.Gly86Val					TDG_uc010swh.1_Missense_Mutation_p.G86V|TDG_uc009zuk.2_Missense_Mutation_p.G82V|TDG_uc010swi.1_5'UTR|TDG_uc010swj.1_5'UTR	p.G86V	NM_003211	NP_003202	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	3	480	+			86					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.257G>T	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347503	0.41599	.	.	ENSG00000139372	ENST00000392872;ENST00000436021;ENST00000266775;ENST00000537100	T;T;T	0.45276	2.23;2.23;0.9	5.19	3.29	0.37713	.	0.683924	0.14989	N	0.286773	T	0.34164	0.0888	L	0.36672	1.1	0.58432	D	0.999999	P;B;B	0.38078	0.617;0.1;0.1	B;B;B	0.39738	0.308;0.036;0.036	T	0.09684	-1.0663	10	0.44086	T	0.13	-3.8892	9.3165	0.37937	0.0983:0.6014:0.3003:0.0	.	86;86;86	B4DSN7;B2R848;Q13569	.;.;TDG_HUMAN	V	86;61;82;86	ENSP00000376611:G86V;ENSP00000266775:G82V;ENSP00000439825:G86V	ENSP00000266775:G82V	G	+	2	0	TDG	102897829	0.993000	0.37304	1.000000	0.80357	0.957000	0.61999	0.515000	0.22801	1.145000	0.42336	0.650000	0.86243	GGC		0.338	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			14	79	1	0	1.52e-12	1.94e-12	14	79				
TCTN1	79600	broad.mit.edu	37	12	111078896	111078896	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:111078896G>T	ENST00000551590.1	+	9	1202	c.1046G>T	c.(1045-1047)gGg>gTg	p.G349V	TCTN1_ENST00000397655.3_Missense_Mutation_p.G335V|TCTN1_ENST00000397659.4_Missense_Mutation_p.G349V|TCTN1_ENST00000377654.3_Missense_Mutation_p.G171V|HVCN1_ENST00000548312.1_Intron			Q2MV58	TECT1_HUMAN	tectonic family member 1	349					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TTCGTTCTGGGGACAGTTAGC	0.393																																						uc009zvs.2		NA																	0					0						c.(1045-1047)GGG>GTG		tectonic family member 1 isoform 2							158.0	152.0	154.0					12																	111078896		1956	4143	6099	SO:0001583	missense	79600				multicellular organismal development	extracellular region		g.chr12:111078896G>T	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.1046G>T	12.37:g.111078896G>T	ENSP00000448735:p.Gly349Val					TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Missense_Mutation_p.G289V|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Missense_Mutation_p.G335V|TCTN1_uc001trn.3_Missense_Mutation_p.G349V|TCTN1_uc001trj.1_Missense_Mutation_p.G293V|TCTN1_uc001trk.3_RNA|HVCN1_uc001trq.1_Intron	p.G349V	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN			9	1154	+			349					A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	ENST00000551590.1	37	c.1046G>T	CCDS41835.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418262	0.83449	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000397655;ENST00000377654;ENST00000397657;ENST00000397659;ENST00000397652	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.87	5.87	0.94306	Domain of unknown function DUF1619 (1);	0.000000	0.85682	D	0.000000	D	0.91503	0.7317	M	0.75447	2.3	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;0.998;1.0	D	0.91546	0.5253	10	0.87932	D	0	-20.1173	20.2079	0.98282	0.0:0.0:1.0:0.0	.	349;335;349;289;293	Q2MV58;Q2MV58-3;Q2MV58-2;C9J1H5;C9J1H4	TECT1_HUMAN;.;.;.;.	V	289;349;335;171;171;349;293	ENSP00000448735:G349V;ENSP00000380775:G335V;ENSP00000366882:G171V;ENSP00000380779:G349V	ENSP00000366882:G171V	G	+	2	0	TCTN1	109563279	1.000000	0.71417	0.989000	0.46669	0.781000	0.44180	7.190000	0.77755	2.781000	0.95711	0.655000	0.94253	GGG		0.393	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	NM_024549		47	101	1	0	2.53e-16	3.33e-16	47	101				
MAP1LC3B2	643246	broad.mit.edu	37	12	117013751	117013751	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:117013751C>T	ENST00000556529.1	+	1	96	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	MAP1LC3B2_ENST00000306985.4_Missense_Mutation_p.P2S			A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	2					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|microtubule (GO:0005874)				breast(1)|large_intestine(2)|lung(3)	6						CCACACCATGCCGTCGGAGAA	0.627																																						uc009zwk.1		NA																	0					0						c.(4-6)CCG>TCG		microtubule-associated protein 1 light chain 3							59.0	57.0	58.0					12																	117013751		2203	4300	6503	SO:0001583	missense	643246				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule		g.chr12:117013751C>T		CCDS41841.1	12q24.22	2014-02-12			ENSG00000171471	ENSG00000171471			34390	protein-coding gene	gene with protein product							Standard	NM_001085481		Approved	ATG8G	uc009zwk.1	A6NCE7		ENST00000556529.1:c.4C>T	12.37:g.117013751C>T	ENSP00000450524:p.Pro2Ser						p.P2S	NM_001085481	NP_001078950	A6NCE7	MP3B2_HUMAN			2	158	+			2						Missense_Mutation	SNP	ENST00000556529.1	37	c.4C>T	CCDS41841.1	.	.	.	.	.	.	.	.	.	.	c	13.23	2.176148	0.38413	.	.	ENSG00000171471	ENST00000306985;ENST00000556529	T;T	0.43688	0.94;0.94	2.6	1.61	0.23674	.	0.142736	0.47852	U	0.000214	T	0.24661	0.0598	L	0.35854	1.095	0.40654	D	0.982066	P	0.39480	0.675	B	0.28849	0.095	T	0.05321	-1.0892	10	0.54805	T	0.06	-10.4845	7.1131	0.25401	0.0:0.7164:0.2836:0.0	.	2	A6NCE7	MP3B2_HUMAN	S	2	ENSP00000305059:P2S;ENSP00000450524:P2S	ENSP00000305059:P2S	P	+	1	0	MAP1LC3B2	115498134	1.000000	0.71417	0.088000	0.20740	0.041000	0.13682	3.833000	0.55790	0.391000	0.25143	0.375000	0.23000	CCG		0.627	MAP1LC3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413900.1	NM_001085481		33	29	0	0	0	0	33	29				
PDX1	3651	broad.mit.edu	37	13	28498541	28498541	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr13:28498541G>C	ENST00000381033.4	+	2	674	c.555G>C	c.(553-555)ttG>ttC	p.L185F	PDX1-AS1_ENST00000499662.2_RNA	NM_000209.3	NP_000200.1	O00330	ODPX_HUMAN	pancreatic and duodenal homeobox 1	0	Interaction with DLD.				cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		TGTTGAACTTGACCGAGAGAC	0.587																																						uc001urt.2		NA																	0					0						c.(553-555)TTG>TTC		pancreatic and duodenal homeobox 1							57.0	61.0	59.0					13																	28498541		2203	4300	6503	SO:0001583	missense	3651				detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr13:28498541G>C	AF035260	CCDS9327.1	13q12.1	2012-03-09	2006-12-01	2006-12-01	ENSG00000139515	ENSG00000139515		"""Homeoboxes / ANTP class : HOXL subclass"""	6107	protein-coding gene	gene with protein product	"""somatostatin transcription factor 1"""	600733	"""insulin promoter factor 1, homeodomain transcription factor"""	IPF1		7590740	Standard	NM_000209		Approved	IDX-1, STF-1, PDX-1, MODY4	uc001urt.2	P52945	OTTHUMG00000016638	ENST00000381033.4:c.555G>C	13.37:g.28498541G>C	ENSP00000370421:p.Leu185Phe					uc001urs.1_5'Flank	p.L185F	NM_000209	NP_000200	P52945	PDX1_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)	2	663	+	all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	185			Homeobox.		B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000381033.4	37	c.555G>C	CCDS9327.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688093	0.68271	.	.	ENSG00000139515	ENST00000381033	D	0.98455	-4.94	4.86	2.98	0.34508	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99127	0.9699	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99000	1.0811	10	0.87932	D	0	.	9.9237	0.41478	0.0771:0.139:0.7839:0.0	.	185	P52945	PDX1_HUMAN	F	185	ENSP00000370421:L185F	ENSP00000370421:L185F	L	+	3	2	PDX1	27396541	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.094000	0.57721	1.157000	0.42530	0.555000	0.69702	TTG		0.587	PDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044310.2	NM_000209		5	71	0	0	0	0	5	71				
LHFP	10186	broad.mit.edu	37	13	39952615	39952615	+	Missense_Mutation	SNP	C	C	T	rs142526688		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr13:39952615C>T	ENST00000379589.3	-	3	896	c.434G>A	c.(433-435)aGt>aAt	p.S145N		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	145						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		GACTTCCTCACTGTCCCAGCC	0.502			T	HMGA2	lipoma								C|||	1	0.000199681	0.0008	0.0	5008	,	,		17497	0.0		0.0	False		,,,				2504	0.0					uc001uxf.2		NA		Dom	yes		13	13q12	10186	T	lipoma HMGIC fusion partner			M	HMGA2		lipoma	HMGA2/LHFP(2)	0				soft_tissue(2)|lung(1)|breast(1)	4						c.(433-435)AGT>AAT		lipoma HMGIC fusion partner precursor		C	ASN/SER	3,4403	6.2+/-15.9	0,3,2200	78.0	71.0	73.0		434	5.8	1.0	13	dbSNP_134	73	0,8600		0,0,4300	no	missense	LHFP	NM_005780.2	46	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	145/201	39952615	3,13003	2203	4300	6503	SO:0001583	missense	10186					integral to membrane	DNA binding	g.chr13:39952615C>T	AF098807	CCDS9369.1	13q12	2008-07-18			ENSG00000183722	ENSG00000183722			6586	protein-coding gene	gene with protein product		606710				10329012	Standard	NM_005780		Approved	MGC22429	uc001uxf.3	Q9Y693	OTTHUMG00000016767	ENST00000379589.3:c.434G>A	13.37:g.39952615C>T	ENSP00000368908:p.Ser145Asn						p.S145N	NM_005780	NP_005771	Q9Y693	LHFP_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)	3	945	-		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)	145					B2R7M2|Q53FC0|Q96SH5	Missense_Mutation	SNP	ENST00000379589.3	37	c.434G>A	CCDS9369.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.47	2.246732	0.39697	6.81E-4	0.0	ENSG00000183722	ENST00000379589	T	0.75589	-0.95	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.70928	0.3280	L	0.54323	1.7	0.48696	D	0.999697	P	0.35684	0.515	B	0.35039	0.194	T	0.68765	-0.5322	9	.	.	.	.	17.4726	0.87650	0.0:1.0:0.0:0.0	.	145	Q9Y693	LHFP_HUMAN	N	145	ENSP00000368908:S145N	.	S	-	2	0	LHFP	38850615	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.914000	0.75764	2.719000	0.93026	0.555000	0.69702	AGT		0.502	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044619.1	NM_005780		10	47	0	0	0	0	10	47				
FAM155A	728215	broad.mit.edu	37	13	108518775	108518775	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr13:108518775C>A	ENST00000375915.2	-	1	308	c.170G>T	c.(169-171)tGg>tTg	p.W57L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	57						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGCGCAGAACCACAAGTGATC	0.602																																						uc001vql.2		NA																	0				skin(1)	1						c.(169-171)TGG>TTG		family with sequence similarity 155, member A							84.0	93.0	90.0					13																	108518775		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518775C>A	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.170G>T	13.37:g.108518775C>A	ENSP00000365080:p.Trp57Leu						p.W57L	NM_001080396	NP_001073865	B1AL88	F155A_HUMAN			1	686	-			57			Helical; (Potential).		B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.170G>T	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619499	0.46736	.	.	ENSG00000204442	ENST00000375915	T	0.12984	2.63	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.33527	0.0866	L	0.50333	1.59	0.58432	D	0.99999	D	0.64830	0.994	D	0.75484	0.986	T	0.03268	-1.1054	10	0.87932	D	0	.	17.5823	0.87972	0.0:1.0:0.0:0.0	.	57	B1AL88	F155A_HUMAN	L	57	ENSP00000365080:W57L	ENSP00000365080:W57L	W	-	2	0	FAM155A	107316776	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.207000	0.77899	2.390000	0.81377	0.650000	0.86243	TGG		0.602	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		75	74	1	0	1.23e-19	1.65e-19	75	74				
COL4A1	1282	broad.mit.edu	37	13	110833680	110833680	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr13:110833680A>G	ENST00000375820.4	-	29	2273	c.2152T>C	c.(2152-2154)Ttt>Ctt	p.F718L		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	718	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAGCCATTAAATCCCGGGCGA	0.502																																						uc001vqw.3		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(2152-2154)TTT>CTT		alpha 1 type IV collagen preproprotein							56.0	55.0	56.0					13																	110833680		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110833680A>G	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2152T>C	13.37:g.110833680A>G	ENSP00000364979:p.Phe718Leu					COL4A1_uc010agl.2_Intron	p.F718L	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		29	2274	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	718			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.2152T>C	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.763481	0.00651	.	.	ENSG00000187498	ENST00000375820	D	0.92397	-3.03	5.1	2.66	0.31614	.	0.601457	0.17876	N	0.159034	T	0.70448	0.3225	N	0.01009	-1.055	0.09310	N	0.999999	B	0.20887	0.049	B	0.22880	0.042	T	0.63129	-0.6706	10	0.07325	T	0.83	.	3.2884	0.06940	0.6513:0.0:0.1781:0.1707	.	718	P02462	CO4A1_HUMAN	L	718	ENSP00000364979:F718L	ENSP00000364979:F718L	F	-	1	0	COL4A1	109631681	0.023000	0.18921	0.028000	0.17463	0.044000	0.14063	0.800000	0.27042	0.409000	0.25649	0.533000	0.62120	TTT		0.502	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			7	45	0	0	0	0	7	45				
OR4N2	390429	broad.mit.edu	37	14	20296501	20296501	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:20296501G>T	ENST00000315947.1	+	1	894	c.894G>T	c.(892-894)atG>atT	p.M298I	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAGCTTCCATGAAAAAGGTGT	0.353																																						uc010tkv.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(892-894)ATG>ATT		olfactory receptor, family 4, subfamily N,							33.0	35.0	34.0					14																	20296501		2192	4269	6461	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296501G>T		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.894G>T	14.37:g.20296501G>T	ENSP00000319601:p.Met298Ile						p.M298I	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	894	+	all_cancers(95;0.00108)		298			Cytoplasmic (Potential).		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.894G>T	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	3.869	-0.028302	0.07589	.	.	ENSG00000176294	ENST00000315947	T	0.35048	1.33	4.57	4.57	0.56435	.	0.328140	0.26304	N	0.025143	T	0.23289	0.0563	N	0.25094	0.71	0.09310	N	0.999999	B	0.06786	0.001	B	0.10450	0.005	T	0.07578	-1.0765	10	0.39692	T	0.17	-7.3025	8.7416	0.34560	0.1031:0.0:0.8969:0.0	.	298	Q8NGD1	OR4N2_HUMAN	I	298	ENSP00000319601:M298I	ENSP00000319601:M298I	M	+	3	0	OR4N2	19366341	0.667000	0.27484	0.733000	0.30861	0.013000	0.08279	0.911000	0.28584	2.521000	0.84997	0.591000	0.81541	ATG		0.353	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			14	28	1	0	1.58e-08	1.9e-08	14	28				
LRFN5	145581	broad.mit.edu	37	14	42361015	42361015	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:42361015A>G	ENST00000298119.4	+	4	3137	c.1948A>G	c.(1948-1950)Aag>Gag	p.K650E	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	650						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GACTGGCACAAAGCCAAGTAC	0.478										HNSCC(30;0.082)																												uc001wvm.2		NA																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1948-1950)AAG>GAG		leucine rich repeat and fibronectin type III							101.0	82.0	88.0					14																	42361015		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42361015A>G	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1948A>G	14.37:g.42361015A>G	ENSP00000298119:p.Lys650Glu	HNSCC(30;0.082)				LRFN5_uc010ana.2_Intron	p.K650E	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	3146	+			650			Cytoplasmic (Potential).		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1948A>G	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	A	12.57	1.976916	0.34848	.	.	ENSG00000165379	ENST00000298119	T	0.49432	0.78	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000014	T	0.27134	0.0665	N	0.08118	0	0.80722	D	1	P	0.46987	0.888	B	0.38106	0.265	T	0.11446	-1.0587	10	0.27082	T	0.32	.	14.2795	0.66202	1.0:0.0:0.0:0.0	.	650	Q96NI6	LRFN5_HUMAN	E	650	ENSP00000298119:K650E	ENSP00000298119:K650E	K	+	1	0	LRFN5	41430765	1.000000	0.71417	0.963000	0.40424	0.962000	0.63368	6.828000	0.75308	2.266000	0.75297	0.528000	0.53228	AAG		0.478	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		12	26	0	0	0	0	12	26				
DACT1	51339	broad.mit.edu	37	14	59112625	59112625	+	Silent	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:59112625C>A	ENST00000335867.4	+	4	1308	c.1284C>A	c.(1282-1284)gcC>gcA	p.A428A	DACT1_ENST00000395153.3_Silent_p.A391A|DACT1_ENST00000541264.2_Silent_p.A147A|DACT1_ENST00000556859.1_Silent_p.A147A			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	428					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.A428A(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCGAACAAGCCGAAAGCAAGA	0.597																																						uc001xdw.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|lung(2)|ovary(1)	5						c.(1282-1284)GCC>GCA		dapper 1 isoform 1							45.0	53.0	50.0					14																	59112625		2203	4298	6501	SO:0001819	synonymous_variant	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59112625C>A	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1284C>A	14.37:g.59112625C>A						DACT1_uc010trv.1_Silent_p.A147A|DACT1_uc001xdx.2_Silent_p.A391A|DACT1_uc010trw.1_Silent_p.A147A	p.A428A	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN			4	1448	+			428					A8MYJ2|Q86TY0	Silent	SNP	ENST00000335867.4	37	c.1284C>A	CCDS9736.1																																																																																				0.597	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		7	46	1	0	5.18e-06	5.84e-06	7	46				
JDP2	122953	broad.mit.edu	37	14	75936093	75936093	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:75936093G>A	ENST00000435893.2	+	4	680	c.407G>A	c.(406-408)cGc>cAc	p.R136H	JDP2_ENST00000267569.5_Missense_Mutation_p.R147H|JDP2_ENST00000437176.1_Missense_Mutation_p.R136H|JDP2_ENST00000419727.2_Missense_Mutation_p.R136H	NM_001135047.1|NM_130469.3	NP_001128519.1|NP_569736.1	Q8WYK2	JDP2_HUMAN	Jun dimerization protein 2	136					negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone deacetylation (GO:0031065)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)	Pseudoephedrine(DB00852)	AACCGACACCGCCCCACCTGC	0.607																																						uc010asj.2		NA																	0					0						c.(406-408)CGC>CAC		Jun dimerization protein 2 isoform a							68.0	61.0	63.0					14																	75936093		2203	4300	6503	SO:0001583	missense	122953					nucleus	sequence-specific DNA binding	g.chr14:75936093G>A	AF111167	CCDS9842.1, CCDS45139.1	14q24.2	2013-01-10		2008-04-10				"""basic leucine zipper proteins"""	17546	protein-coding gene	gene with protein product	"""progesterone receptor co-activator"""	608657				12052888, 9154808, 17545590	Standard	NM_130469		Approved	JUNDM2	uc001xrq.3	Q8WYK2		ENST00000435893.2:c.407G>A	14.37:g.75936093G>A	ENSP00000399587:p.Arg136His					JDP2_uc010tvb.1_Missense_Mutation_p.R136H|JDP2_uc010tvc.1_Missense_Mutation_p.R136H|JDP2_uc001xrq.2_Missense_Mutation_p.R147H	p.R136H	NM_001135047	NP_001128519	Q8WYK2	JDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0296)	4	474	+			136					J3KN58|O95430|Q9UIE4	Missense_Mutation	SNP	ENST00000435893.2	37	c.407G>A	CCDS9842.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250360	0.80024	.	.	ENSG00000140044	ENST00000419727;ENST00000437176;ENST00000435893;ENST00000267569	T;T;T;T	0.59083	0.32;0.32;0.32;0.29	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	L	0.32530	0.975	0.54753	D	0.999985	B	0.10296	0.003	B	0.06405	0.002	T	0.51325	-0.8720	10	0.87932	D	0	-9.7896	17.5601	0.87903	0.0:0.0:1.0:0.0	.	136	Q8WYK2	JDP2_HUMAN	H	136;136;136;147	ENSP00000415558:R136H;ENSP00000409787:R136H;ENSP00000399587:R136H;ENSP00000267569:R147H	ENSP00000267569:R147H	R	+	2	0	JDP2	75005846	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	9.458000	0.97634	2.381000	0.81170	0.467000	0.42956	CGC		0.607	JDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415505.1	NM_130469		17	40	0	0	0	0	17	40				
UNC79	57578	broad.mit.edu	37	14	94088414	94088414	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:94088414C>G	ENST00000393151.2	+	30	4835	c.4835C>G	c.(4834-4836)tCa>tGa	p.S1612*	UNC79_ENST00000256339.4_Nonsense_Mutation_p.S1435*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.S1612*|UNC79_ENST00000553484.1_Nonsense_Mutation_p.S1634*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1612					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GATCTATCCTCAGATTCAACC	0.468																																						uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(4369-4371)TCA>TGA		hypothetical protein LOC57578							73.0	76.0	75.0					14																	94088414		2203	4300	6503	SO:0001587	stop_gained	57578					integral to membrane		g.chr14:94088414C>G	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4835C>G	14.37:g.94088414C>G	ENSP00000376858:p.Ser1612*					KIAA1409_uc001ybs.1_Nonsense_Mutation_p.S1435*	p.S1457*	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	28	4453	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1612					B5MDL6|Q6ZUT7	Nonsense_Mutation	SNP	ENST00000393151.2	37	c.4370C>G		.	.	.	.	.	.	.	.	.	.	C	43	10.242368	0.99367	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-13.3274	19.8592	0.96777	0.0:1.0:0.0:0.0	.	.	.	.	X	1435;1612;1634;1612;1634	.	ENSP00000256339:S1435X	S	+	2	0	KIAA1409	93158167	1.000000	0.71417	0.991000	0.47740	0.946000	0.59487	7.445000	0.80570	2.779000	0.95612	0.491000	0.48974	TCA		0.468	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		36	97	0	0	0	0	36	97				
SYNE3	161176	broad.mit.edu	37	14	95922000	95922000	+	Missense_Mutation	SNP	G	G	T	rs143391386		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:95922000G>T	ENST00000334258.5	-	5	865	c.851C>A	c.(850-852)gCg>gAg	p.A284E	SYNE3_ENST00000554873.1_Missense_Mutation_p.A41E|SYNE3_ENST00000553340.1_Missense_Mutation_p.A284E|SYNE3_ENST00000557275.1_Missense_Mutation_p.A284E	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	284					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						AATGACACCCGCAGACTGCTC	0.567																																						uc001yei.3		NA																	0				central_nervous_system(1)	1						c.(850-852)GCG>GAG		nesprin-3							89.0	93.0	92.0					14																	95922000		2203	4300	6503	SO:0001583	missense	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95922000G>T	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.851C>A	14.37:g.95922000G>T	ENSP00000334308:p.Ala284Glu					C14orf49_uc010avi.2_Missense_Mutation_p.A284E|C14orf49_uc001yej.1_Missense_Mutation_p.A284E	p.A284E	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	5	866	-		all_cancers(154;0.0937)	284			Spectrin 1.|Cytoplasmic (Potential).		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.851C>A	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	A	5.140	0.211504	0.09757	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275;ENST00000553340	T;T;T;T	0.29397	3.81;1.57;3.81;3.22	4.99	-7.67	0.01272	.	0.676502	0.12111	N	0.498534	T	0.09202	0.0227	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.13407	0.009;0.003;0.001	T	0.32295	-0.9912	10	0.05351	T	0.99	-3.5344	3.8501	0.08951	0.352:0.0843:0.3967:0.1669	.	284;284;284	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	E	284;41;284;284	ENSP00000334308:A284E;ENSP00000452154:A41E;ENSP00000450562:A284E;ENSP00000450774:A284E	ENSP00000334308:A284E	A	-	2	0	C14orf49	94991753	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.424000	0.02448	-2.031000	0.00928	-0.556000	0.04195	GCG		0.567	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		20	181	1	0	3.88e-16	5.08e-16	20	181				
SNRPN	6638	broad.mit.edu	37	15	25221556	25221556	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:25221556C>T	ENST00000400100.1	+	9	1150	c.260C>T	c.(259-261)cCc>cTc	p.P87L	SNRPN_ENST00000400097.1_Missense_Mutation_p.P87L|SNRPN_ENST00000577565.1_Missense_Mutation_p.P87L|SNRPN_ENST00000346403.6_Missense_Mutation_p.P87L|SNURF_ENST00000338094.6_3'UTR|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000554227.2_Missense_Mutation_p.P91L|SNRPN_ENST00000400098.1_Missense_Mutation_p.P87L|SNRPN_ENST00000390687.4_Missense_Mutation_p.P87L|SNRPN_ENST00000444203.2_Missense_Mutation_p.P91L	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	87					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGGCCACCCCCCAAAGATGTA	0.488									Prader-Willi syndrome																													uc001ywp.1		NA																	0				ovary(1)	1						c.(259-261)CCC>CTC		small nuclear ribonucleoprotein polypeptide N							68.0	73.0	72.0					15																	25221556		1928	4133	6061	SO:0001583	missense	6638	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25221556C>T	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.260C>T	15.37:g.25221556C>T	ENSP00000382972:p.Pro87Leu					SNRPN_uc001ywq.1_Missense_Mutation_p.P87L|SNRPN_uc001ywr.1_Missense_Mutation_p.P87L|SNRPN_uc001yws.1_Missense_Mutation_p.P87L|SNRPN_uc001ywt.1_Missense_Mutation_p.P87L|SNRPN_uc001ywv.1_Missense_Mutation_p.P90L|SNRPN_uc001yww.1_Missense_Mutation_p.P87L|SNRPN_uc001ywx.1_Missense_Mutation_p.P87L|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	p.P87L	NM_022807	NP_073718	P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	9	1150	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	87					B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	c.260C>T	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.798204	0.70567	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	4.08	4.08	0.47627	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.056471	0.64402	D	0.000001	T	0.44829	0.1312	M	0.68593	2.085	0.80722	D	1	P;P	0.46621	0.881;0.786	B;B	0.42771	0.397;0.261	T	0.52624	-0.8551	10	0.54805	T	0.06	-0.688	14.572	0.68218	0.0:1.0:0.0:0.0	.	91;87	B3KVR1;P63162	.;RSMN_HUMAN	L	87;87;87;91;87;91	ENSP00000382972:P87L;ENSP00000382970:P87L;ENSP00000382969:P87L;ENSP00000452342:P91L;ENSP00000375105:P87L;ENSP00000408767:P91L	ENSP00000375105:P87L	P	+	2	0	SNRPN	22772649	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	6.984000	0.76186	2.569000	0.86673	0.491000	0.48974	CCC		0.488	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		12	51	0	0	0	0	12	51				
WDR72	256764	broad.mit.edu	37	15	54003099	54003099	+	Silent	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:54003099G>T	ENST00000396328.1	-	9	1148	c.909C>A	c.(907-909)acC>acA	p.T303T	WDR72_ENST00000360509.5_Silent_p.T303T|WDR72_ENST00000557913.1_Silent_p.T302T|WDR72_ENST00000559418.1_Silent_p.T315T	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	303										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GAGGATAAATGGTCTCTTTAA	0.383																																						uc002acj.2		NA																	0				lung(1)|skin(1)	2						c.(907-909)ACC>ACA		WD repeat domain 72							138.0	124.0	129.0					15																	54003099		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:54003099G>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.909C>A	15.37:g.54003099G>T						WDR72_uc010bfi.1_Silent_p.T303T	p.T303T	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	9	951	-			303					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.909C>A	CCDS10151.1																																																																																				0.383	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		9	49	1	0	3.07e-06	3.48e-06	9	49				
CILP	8483	broad.mit.edu	37	15	65490300	65490300	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:65490300A>G	ENST00000261883.4	-	9	2490	c.2324T>C	c.(2323-2325)aTc>aCc	p.I775T		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	775					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						AATCACGGAGATCACAACCCC	0.562																																						uc002aon.2		NA																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(2323-2325)ATC>ACC		cartilage intermediate layer protein							100.0	103.0	102.0					15																	65490300		2202	4299	6501	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65490300A>G	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.2324T>C	15.37:g.65490300A>G	ENSP00000261883:p.Ile775Thr						p.I775T	NM_003613	NP_003604	O75339	CILP1_HUMAN			9	2505	-			775					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.2324T>C	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.180964	0.38511	.	.	ENSG00000138615	ENST00000261883	T	0.11169	2.8	5.2	5.2	0.72013	.	0.174618	0.50627	D	0.000112	T	0.12220	0.0297	L	0.39898	1.24	0.35126	D	0.767461	B	0.25351	0.124	B	0.27500	0.08	T	0.09357	-1.0678	10	0.72032	D	0.01	-24.3272	14.5709	0.68210	1.0:0.0:0.0:0.0	.	775	O75339	CILP1_HUMAN	T	775	ENSP00000261883:I775T	ENSP00000261883:I775T	I	-	2	0	CILP	63277353	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.283000	0.95860	2.090000	0.63153	0.460000	0.39030	ATC		0.562	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		54	87	0	0	0	0	54	87				
DENND4A	10260	broad.mit.edu	37	15	65959832	65959832	+	Silent	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:65959832T>C	ENST00000431932.2	-	28	5272	c.5064A>G	c.(5062-5064)ttA>ttG	p.L1688L	DENND4A_ENST00000443035.3_Silent_p.L1731L	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1688					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TCAATCCAGGTAAGTTACTGG	0.368																																						uc002aph.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(5062-5064)TTA>TTG		DENN/MADD domain containing 4A isoform 2							124.0	116.0	119.0					15																	65959832		1849	4097	5946	SO:0001819	synonymous_variant	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65959832T>C	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.5064A>G	15.37:g.65959832T>C						DENND4A_uc002api.2_Silent_p.L1731L	p.L1688L	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN			28	5442	-			1688					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Silent	SNP	ENST00000431932.2	37	c.5064A>G	CCDS45285.1																																																																																				0.368	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		9	47	0	0	0	0	9	47				
ADAMTSL3	57188	broad.mit.edu	37	15	84581990	84581990	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:84581990C>A	ENST00000286744.5	+	16	2071	c.1847C>A	c.(1846-1848)aCc>aAc	p.T616N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.T616N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	616	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGCTGCCCACCGAACGGCCC	0.617																																						uc002bjz.3		NA																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(1846-1848)ACC>AAC		ADAMTS-like 3 precursor							66.0	56.0	60.0					15																	84581990		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84581990C>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1847C>A	15.37:g.84581990C>A	ENSP00000286744:p.Thr616Asn					ADAMTSL3_uc010bmt.1_Missense_Mutation_p.T616N|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.T616N	p.T616N	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		16	2071	+			616			TSP type-1 4.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.1847C>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	9.825	1.186815	0.21870	.	.	ENSG00000156218	ENST00000286744	T	0.61040	0.14	4.9	2.85	0.33270	.	1.101770	0.06829	N	0.793552	T	0.58192	0.2105	L	0.53729	1.69	0.09310	N	1	B;P	0.43885	0.294;0.82	B;B	0.41571	0.36;0.305	T	0.52260	-0.8599	10	0.44086	T	0.13	.	14.2858	0.66245	0.0:0.6922:0.3078:0.0	.	616;616	P82987-2;P82987	.;ATL3_HUMAN	N	616	ENSP00000286744:T616N	ENSP00000286744:T616N	T	+	2	0	ADAMTSL3	82372994	0.018000	0.18449	0.268000	0.24571	0.252000	0.25951	2.014000	0.40951	1.009000	0.39289	0.563000	0.77884	ACC		0.617	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		10	38	1	0	7.48e-07	8.64e-07	10	38				
ACAN	176	broad.mit.edu	37	15	89398229	89398229	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:89398229C>A	ENST00000561243.1	+	11	2413	c.2413C>A	c.(2413-2415)Cca>Aca	p.P805T	ACAN_ENST00000439576.2_Missense_Mutation_p.P805T|ACAN_ENST00000559004.1_Missense_Mutation_p.P805T|ACAN_ENST00000352105.7_Missense_Mutation_p.P805T			P16112	PGCA_HUMAN	aggrecan	804	12 X 6 AA approximate tandem repeats of E-[GVE]-P-[SFY]-[APT]-[TSP].|KS.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTCAGAGGAACCATTCCCCTC	0.602																																						uc010upo.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2413-2415)CCA>ACA		aggrecan isoform 2 precursor							32.0	36.0	35.0					15																	89398229		1949	4141	6090	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89398229C>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2413C>A	15.37:g.89398229C>A	ENSP00000453342:p.Pro805Thr					ACAN_uc010upp.1_Missense_Mutation_p.P805T|ACAN_uc002bna.2_RNA	p.P805T	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	2787	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		805					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.2413C>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	6.446	0.450365	0.12223	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02015	4.74;4.5	3.16	1.17	0.20885	.	.	.	.	.	T	0.01627	0.0052	L	0.40543	1.245	0.30598	N	0.760801	B;B	0.33528	0.416;0.416	B;B	0.26614	0.071;0.043	T	0.38373	-0.9664	9	0.13470	T	0.59	.	3.3804	0.07252	0.2029:0.5583:0.0:0.2388	.	805;805	E7ENV9;E7EX88	.;.	T	805	ENSP00000387356:P805T;ENSP00000341615:P805T	ENSP00000268134:P805T	P	+	1	0	ACAN	87199233	0.011000	0.17503	0.059000	0.19551	0.151000	0.21798	1.500000	0.35682	0.442000	0.26555	-0.373000	0.07131	CCA		0.602	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		7	8	1	0	0.000157383	0.000170249	7	8				
CRTC3	64784	broad.mit.edu	37	15	91083350	91083350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr15:91083350G>A	ENST00000268184.6	+	2	216	c.212G>A	c.(211-213)aGc>aAc	p.S71N	CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000420329.2_Missense_Mutation_p.S71N|CRTC3_ENST00000560098.1_Missense_Mutation_p.S71N			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	71	Required for interaction with HTLV-1 TAX.				energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CAGCTGCGGAGCAGTGCGTCA	0.413			T	MAML2	salivary gland mucoepidermoid																																	uc002bpp.2		NA		Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	0				salivary_gland(26)|ovary(1)	27						c.(211-213)AGC>AAC		transducer of regulated CREB protein 3 isoform							101.0	95.0	97.0					15																	91083350		2198	4298	6496	SO:0001583	missense	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91083350G>A		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.212G>A	15.37:g.91083350G>A	ENSP00000268184:p.Ser71Asn					CRTC3_uc002bpn.2_Missense_Mutation_p.S71N|CRTC3_uc002bpo.2_Missense_Mutation_p.S71N	p.S71N	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		2	318	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		71			Required for interaction with HTLV-1 TAX.		Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	c.212G>A	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	G	2.172	-0.389734	0.04932	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.11063	2.82;2.81	5.24	2.09	0.27110	.	0.153114	0.56097	N	0.000032	T	0.04952	0.0133	N	0.11064	0.09	0.29703	N	0.840033	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.002;0.002	T	0.33317	-0.9873	10	0.19147	T	0.46	-5.04	8.6329	0.33930	0.2802:0.0:0.7198:0.0	.	71;71;35	Q6UUV7;Q6UUV7-3;F8W842	CRTC3_HUMAN;.;.	N	35;71;71	ENSP00000268184:S71N;ENSP00000416573:S71N	ENSP00000268184:S71N	S	+	2	0	CRTC3	88884354	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	0.567000	0.23608	0.756000	0.33013	0.655000	0.94253	AGC		0.413	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		29	40	0	0	0	0	29	40				
WDR90	197335	broad.mit.edu	37	16	701826	701826	+	Splice_Site	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr16:701826G>T	ENST00000293879.4	+	9	840		c.e9-1		AL022341.3_ENST00000455294.1_RNA|WDR90_ENST00000549091.1_Splice_Site			Q96KV7	WDR90_HUMAN	WD repeat domain 90											endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TCCCCCAGCAGTCCGGCCGGG	0.687																																						uc002cii.1		NA																	0				ovary(1)	1						c.e9-1		WD repeat domain 90							29.0	36.0	34.0					16																	701826		2100	4215	6315	SO:0001630	splice_region_variant	197335							g.chr16:701826G>T	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.841-1G>T	16.37:g.701826G>T						WDR90_uc002cig.1_Splice_Site_p.S281_splice|WDR90_uc002cih.1_Missense_Mutation_p.Q281H|WDR90_uc002cij.1_Splice_Site	p.S281_splice	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			9	895	+		Hepatocellular(780;0.0218)						Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Splice_Site	SNP	ENST00000293879.4	37	c.841_splice	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	9.049	0.991668	0.18966	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	.	.	.	3.53	3.53	0.40419	.	.	.	.	.	.	.	.	.	.	.	0.33777	D	0.623728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7849	0.46398	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR90	641827	0.082000	0.21442	0.006000	0.13384	0.002000	0.02628	3.291000	0.51764	1.979000	0.57680	0.462000	0.41574	.		0.687	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294	Intron	20	49	1	0	7.42e-09	8.96e-09	20	49				
GNPTG	84572	broad.mit.edu	37	16	1400139	1400139	+	5'Flank	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr16:1400139C>A	ENST00000204679.4	+	0	0				TSR3_ENST00000007390.2_Missense_Mutation_p.C208F	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit						carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				CGGGCTGCCGCAGGCCGCGTA	0.622																																						uc002cll.2		NA																	0					0						c.(622-624)TGC>TTC		hypothetical protein LOC115939							26.0	29.0	28.0					16																	1400139		2195	4299	6494	SO:0001631	upstream_gene_variant	115939				rRNA processing			g.chr16:1400139C>A	BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"""GlcNAc-phosphotransferase gamma-subunit"""	607838	"""N-acetylglucosamine-1-phosphotransferase, gamma subunit"", ""chromosome 16 open reading frame 27"""	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835		16.37:g.1400139C>A	Exception_encountered					GNPTG_uc002clm.2_5'Flank	p.C208F	NM_001001410	NP_001001410	Q9UJK0	TSR3_HUMAN			4	691	-		Hepatocellular(780;0.0893)	208					B2R556|Q6XYD7|Q96L13	Missense_Mutation	SNP	ENST00000204679.4	37	c.623G>T	CCDS10436.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.272401	0.40194	.	.	ENSG00000007520	ENST00000007390	.	.	.	5.03	4.06	0.47325	Domain of unknown function DUF367 (2);	0.089365	0.85682	D	0.000000	T	0.78892	0.4355	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81653	-0.0835	9	0.87932	D	0	-28.9341	13.0962	0.59192	0.0:0.837:0.163:0.0	.	208	Q9UJK0	TSR3_HUMAN	F	208	.	ENSP00000007390:C208F	C	-	2	0	C16orf42	1340140	1.000000	0.71417	0.871000	0.34182	0.003000	0.03518	5.629000	0.67798	1.080000	0.41073	-0.479000	0.04858	TGC		0.622	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109058.2	NM_032520		17	18	1	0	1.57e-10	1.97e-10	17	18				
NLRC3	197358	broad.mit.edu	37	16	3602217	3602217	+	RNA	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr16:3602217T>C	ENST00000301749.7	-	0	2735				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGACTCCTGTTCTGCTTCAA	0.532																																						uc010btn.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(2329-2331)AAC>AGC		NOD3 protein							101.0	98.0	99.0					16																	3602217		1958	4145	6103			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3602217T>C	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3602217T>C						NLRC3_uc010bto.1_Missense_Mutation_p.N42S	p.N777S	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN			11	2741	-			777			LRR 7.		Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	ENST00000301749.7	37	c.2330A>G		.	.	.	.	.	.	.	.	.	.	T	13.67	2.306015	0.40795	.	.	ENSG00000167984	ENST00000301749;ENST00000359128;ENST00000448023	T;T;T	0.65364	-0.15;-0.15;-0.15	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.77103	0.4081	M	0.79805	2.47	0.23162	N	0.998195	D;D	0.89917	1.0;0.992	D;D	0.91635	0.999;0.983	T	0.68262	-0.5455	10	0.33940	T	0.23	.	10.7497	0.46203	0.0:0.0:0.0:1.0	.	777;823	Q7RTR2;C9JLH9	NLRC3_HUMAN;.	S	777;776;823	ENSP00000301749:N777S;ENSP00000352039:N776S;ENSP00000414415:N823S	ENSP00000301749:N777S	N	-	2	0	NLRC3	3542218	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	5.399000	0.66314	1.797000	0.52628	0.369000	0.22263	AAC		0.532	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		35	46	0	0	0	0	35	46				
SBK1	388228	broad.mit.edu	37	16	28331653	28331653	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr16:28331653C>T	ENST00000341901.4	+	4	1475	c.686C>T	c.(685-687)gCg>gTg	p.A229V		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	229	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(3)|ovary(1)	5						GACGGGCTGGCGGTGGACACG	0.736																																						uc002dpd.2		NA																	0				ovary(1)|kidney(1)	2						c.(685-687)GCG>GTG		SH3-binding kinase 1							13.0	22.0	19.0					16																	28331653		2076	4178	6254	SO:0001583	missense	388228					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr16:28331653C>T		CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322			17699	protein-coding gene	gene with protein product			"""SH3-binding domain kinase 1"""				Standard	XM_005255315		Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.686C>T	16.37:g.28331653C>T	ENSP00000343248:p.Ala229Val						p.A229V	NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN			4	1475	+			229			Protein kinase.			Missense_Mutation	SNP	ENST00000341901.4	37	c.686C>T	CCDS32416.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368115	0.24771	.	.	ENSG00000188322	ENST00000341901	T	0.65732	-0.17	4.31	3.34	0.38264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.266015	0.39544	N	0.001337	T	0.35189	0.0923	N	0.10733	0.035	0.30266	N	0.792699	P	0.34934	0.476	B	0.28709	0.093	T	0.28427	-1.0044	10	0.15952	T	0.53	-22.0296	11.8483	0.52397	0.0:0.8209:0.1791:0.0	.	229	Q52WX2	SBK1_HUMAN	V	229	ENSP00000343248:A229V	ENSP00000343248:A229V	A	+	2	0	SBK1	28239154	0.055000	0.20627	0.899000	0.35326	0.798000	0.45092	2.707000	0.47143	0.763000	0.33175	0.462000	0.41574	GCG		0.736	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	XM_370948		8	19	0	0	0	0	8	19				
MYH4	4622	broad.mit.edu	37	17	10362566	10362566	+	Splice_Site	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:10362566A>T	ENST00000255381.2	-	15	1698		c.e15+1		RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle						actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGTCATATGAACCTTCTCGAT	0.473																																						uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.e15+1		myosin, heavy polypeptide 4, skeletal muscle							151.0	140.0	144.0					17																	10362566		2203	4300	6503	SO:0001630	splice_region_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10362566A>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1587+1T>A	17.37:g.10362566A>T						uc002gml.1_Intron	p.K529_splice	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			15	1698	-									Splice_Site	SNP	ENST00000255381.2	37	c.1587_splice	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.631166	0.67015	.	.	ENSG00000141048	ENST00000255381	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8499	0.78921	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH4	10303291	1.000000	0.71417	0.932000	0.37286	0.544000	0.35116	9.123000	0.94387	2.216000	0.71823	0.533000	0.62120	.		0.473	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	Intron	15	51	0	0	0	0	15	51				
MYOCD	93649	broad.mit.edu	37	17	12661501	12661501	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:12661501C>T	ENST00000343344.4	+	11	2158	c.2158C>T	c.(2158-2160)Cct>Tct	p.P720S	MYOCD_ENST00000395988.1_3'UTR|RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Missense_Mutation_p.P768S|AC005358.1_ENST00000609971.1_Missense_Mutation_p.P672S			Q8IZQ8	MYCD_HUMAN	myocardin	720					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGTAACACAGCCTCCATCCTA	0.393																																						uc002gnn.2		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)	5						c.(2158-2160)CCT>TCT		myocardin isoform 2							110.0	95.0	100.0					17																	12661501		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12661501C>T	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2158C>T	17.37:g.12661501C>T	ENSP00000341835:p.Pro720Ser					MYOCD_uc002gno.2_Missense_Mutation_p.P768S|MYOCD_uc002gnp.1_Missense_Mutation_p.P672S|MYOCD_uc002gnq.2_Intron	p.P720S	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	11	2457	+			720					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.2158C>T	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384844	0.82792	.	.	ENSG00000141052	ENST00000425538;ENST00000343344;ENST00000395988	T	0.63580	-0.05	5.24	4.2	0.49525	.	0.053405	0.85682	D	0.000000	T	0.74574	0.3734	L	0.60455	1.87	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.989	T	0.74962	-0.3485	10	0.49607	T	0.09	-17.7418	14.5482	0.68047	0.0:0.8526:0.1473:0.0	.	672;768;720	Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	S	768;720;672	ENSP00000341835:P720S	ENSP00000341835:P720S	P	+	1	0	MYOCD	12602226	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.466000	0.60148	2.618000	0.88619	0.591000	0.81541	CCT		0.393	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		11	49	0	0	0	0	11	49				
SLC35G3	146861	broad.mit.edu	37	17	33521053	33521053	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:33521053C>A	ENST00000297307.5	-	1	359	c.274G>T	c.(274-276)Gac>Tac	p.D92Y	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	92	EamA 1.					integral component of membrane (GO:0016021)											AGAAGGGGGTCGCCACGCAGT	0.582																																						uc002hjd.2		NA																	0					0						c.(274-276)GAC>TAC		acyl-malonyl condensing enzyme 1							138.0	145.0	143.0					17																	33521053		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33521053C>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.274G>T	17.37:g.33521053C>A	ENSP00000297307:p.Asp92Tyr						p.D92Y	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	1	360	-			92			DUF6 1.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.274G>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485437	0.26686	.	.	ENSG00000164729	ENST00000297307	T	0.52983	0.64	.	.	.	.	0.191946	0.25683	N	0.028996	T	0.41811	0.1175	L	0.27053	0.805	0.31886	N	0.617776	D	0.53885	0.963	P	0.55391	0.775	T	0.49753	-0.8906	9	0.62326	D	0.03	-10.2087	5.844	0.18652	0.0:0.9991:0.0:9.0E-4	.	92	Q8N808	S35G3_HUMAN	Y	92	ENSP00000297307:D92Y	ENSP00000297307:D92Y	D	-	1	0	SLC35G3	30545166	0.057000	0.20700	0.219000	0.23793	0.220000	0.24768	0.217000	0.17603	0.064000	0.16427	0.064000	0.15345	GAC		0.582	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		88	120	1	0	9.25e-40	1.28e-39	88	120				
KRT34	3885	broad.mit.edu	37	17	39538432	39538432	+	Missense_Mutation	SNP	G	G	T	rs540743865		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:39538432G>T	ENST00000394001.1	-	1	223	c.193C>A	c.(193-195)Ccc>Acc	p.P65T		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	65	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CAGCTGGGGGGCACGCAGGGC	0.622																																						uc002hwm.2		NA																	0				central_nervous_system(1)	1						c.(193-195)CCC>ACC		keratin 34							52.0	52.0	52.0					17																	39538432		2203	4300	6503	SO:0001583	missense	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39538432G>T	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.193C>A	17.37:g.39538432G>T	ENSP00000377570:p.Pro65Thr						p.P65T	NM_021013	NP_066293	O76011	KRT34_HUMAN			1	205	-		Breast(137;0.000496)	65			Head.		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	c.193C>A	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	g	9.626	1.135110	0.21123	.	.	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.87	-0.791	0.10929	.	0.290828	0.30320	N	0.009893	T	0.52306	0.1726	L	0.39898	1.24	0.25837	N	0.984109	D	0.58620	0.983	P	0.53224	0.721	T	0.62048	-0.6936	9	0.49607	T	0.09	.	21.9702	0.99964	0.0:0.6574:0.3426:0.0	.	65	O76011	KRT34_HUMAN	T	23;65	.	ENSP00000251648:P65T	P	-	1	0	KRT34	36791958	0.180000	0.23148	0.380000	0.26093	0.647000	0.38526	0.354000	0.20146	-0.217000	0.10033	-0.256000	0.11100	CCC		0.622	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		19	72	1	0	1.02e-10	1.28e-10	19	72				
DHX8	1659	broad.mit.edu	37	17	41570954	41570954	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:41570954G>A	ENST00000262415.3	+	7	1077	c.1005G>A	c.(1003-1005)atG>atA	p.M335I	DHX8_ENST00000540306.1_Missense_Mutation_p.M335I	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	335	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GCCTGAGCATGAAGGTAGGTG	0.527																																					NSCLC(56;1548 1661 49258 49987)	uc002idu.1		NA																	0				ovary(2)|kidney(1)|pancreas(1)	4						c.(1003-1005)ATG>ATA		DEAH (Asp-Glu-Ala-His) box polypeptide 8							163.0	143.0	150.0					17																	41570954		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41570954G>A	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1005G>A	17.37:g.41570954G>A	ENSP00000262415:p.Met335Ile					DHX8_uc010wif.1_Missense_Mutation_p.M244I|DHX8_uc010wig.1_Missense_Mutation_p.M335I	p.M335I	NM_004941	NP_004932	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	7	1078	+		Breast(137;0.00908)	335			S1 motif.			Missense_Mutation	SNP	ENST00000262415.3	37	c.1005G>A	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575580	0.86645	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.03635	3.86;3.87	5.71	5.71	0.89125	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.08358	0.0208	N	0.25380	0.74	0.80722	D	1	B;P	0.45902	0.184;0.868	B;P	0.52758	0.101;0.708	T	0.13045	-1.0524	10	0.66056	D	0.02	.	18.8428	0.92190	0.0:0.0:1.0:0.0	.	335;335	F5H658;Q14562	.;DHX8_HUMAN	I	335	ENSP00000437886:M335I;ENSP00000262415:M335I	ENSP00000262415:M335I	M	+	3	0	DHX8	38926480	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.407000	0.97325	2.697000	0.92050	0.655000	0.94253	ATG		0.527	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			15	70	0	0	0	0	15	70				
KIF2B	84643	broad.mit.edu	37	17	51900732	51900732	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:51900732C>T	ENST00000268919.4	+	1	494	c.338C>T	c.(337-339)aCg>aTg	p.T113M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	113					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T113M(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGTACCGCCACGAAATGGGTT	0.592																																						uc002iua.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(5)|skin(3)	8						c.(337-339)ACG>ATG		kinesin family member 2B							76.0	82.0	80.0					17																	51900732		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900732C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.338C>T	17.37:g.51900732C>T	ENSP00000268919:p.Thr113Met					uc010wna.1_RNA	p.T113M	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	494	+			113					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.338C>T	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	2.969	-0.212944	0.06140	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74315	-0.83	5.11	4.14	0.48551	.	0.928117	0.08888	N	0.878962	T	0.62270	0.2414	L	0.42245	1.32	0.09310	N	1	P	0.37731	0.607	B	0.26416	0.069	T	0.49808	-0.8900	10	0.30078	T	0.28	.	9.5255	0.39162	0.0:0.9047:0.0:0.0953	.	113	Q8N4N8	KIF2B_HUMAN	M	113;36	ENSP00000268919:T113M	ENSP00000268919:T113M	T	+	2	0	KIF2B	49255731	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.167000	0.16602	1.504000	0.48704	0.655000	0.94253	ACG		0.592	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		19	92	0	0	0	0	19	92				
STXBP4	252983	broad.mit.edu	37	17	53158524	53158524	+	Missense_Mutation	SNP	G	G	A	rs35447433	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:53158524G>A	ENST00000376352.2	+	16	1676	c.1469G>A	c.(1468-1470)cGt>cAt	p.R490H	STXBP4_ENST00000434978.2_Missense_Mutation_p.R468H	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	490					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AAATCTGTTCGTGCCTTACTT	0.378													G|||	10	0.00199681	0.0076	0.0	5008	,	,		17423	0.0		0.0	False		,,,				2504	0.0					uc002iuf.1		NA																	0				ovary(1)	1						c.(1468-1470)CGT>CAT		syntaxin binding protein 4		G	HIS/ARG	26,4380	32.6+/-62.9	0,26,2177	122.0	107.0	112.0		1469	4.6	1.0	17	dbSNP_126	112	0,8600		0,0,4300	yes	missense	STXBP4	NM_178509.5	29	0,26,6477	AA,AG,GG		0.0,0.5901,0.1999	probably-damaging	490/554	53158524	26,12980	2203	4300	6503	SO:0001583	missense	252983					cytoplasm	calcium ion binding	g.chr17:53158524G>A	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1469G>A	17.37:g.53158524G>A	ENSP00000365530:p.Arg490His					STXBP4_uc010dcd.1_Missense_Mutation_p.R468H	p.R490H	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN			16	1676	+			490					Q8IVZ5	Missense_Mutation	SNP	ENST00000376352.2	37	c.1469G>A	CCDS11584.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.37	3.373388	0.61624	0.005901	0.0	ENSG00000166263	ENST00000376352;ENST00000434978	T;T	0.50001	0.76;0.76	5.58	4.62	0.57501	WW/Rsp5/WWP (1);	0.103173	0.64402	N	0.000004	T	0.60392	0.2265	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	T	0.69018	-0.5256	10	0.62326	D	0.03	-7.2413	12.298	0.54859	0.0809:0.0:0.9191:0.0	rs35447433	468;490	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	H	490;468	ENSP00000365530:R490H;ENSP00000391087:R468H	ENSP00000365530:R490H	R	+	2	0	STXBP4	50513523	1.000000	0.71417	0.998000	0.56505	0.239000	0.25481	5.203000	0.65174	1.602000	0.50124	-0.140000	0.14226	CGT		0.378	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509		7	14	0	0	0	0	7	14				
BRIP1	83990	broad.mit.edu	37	17	59763502	59763502	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:59763502T>A	ENST00000259008.2	-	19	2867	c.2600A>T	c.(2599-2601)cAg>cTg	p.Q867L	BRIP1_ENST00000577598.1_Missense_Mutation_p.Q867L	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	867					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GTGCTGAATCTGCTGCCGTAC	0.358			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002izk.1		NA	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			0				ovary(1)	1						c.(2599-2601)CAG>CTG	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							63.0	71.0	68.0					17																	59763502		2202	4298	6500	SO:0001583	missense	83990	Fanconi_Anemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59763502T>A	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2600A>T	17.37:g.59763502T>A	ENSP00000259008:p.Gln867Leu					BRIP1_uc002izl.1_Missense_Mutation_p.Q248L	p.Q867L	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			19	2741	-			867					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.2600A>T	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.987585	0.35036	.	.	ENSG00000136492	ENST00000259008	T	0.74421	-0.84	5.81	4.72	0.59763	.	0.149538	0.47852	N	0.000207	T	0.55529	0.1926	N	0.13140	0.3	0.40723	D	0.982678	B;B	0.15719	0.001;0.014	B;B	0.20767	0.007;0.031	T	0.47235	-0.9133	9	.	.	.	-1.193	9.9778	0.41795	0.16:0.0:0.0:0.84	.	867;867	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	L	867	ENSP00000259008:Q867L	.	Q	-	2	0	BRIP1	57118284	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.293000	0.43558	0.979000	0.38497	0.533000	0.62120	CAG		0.358	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		9	83	0	0	0	0	9	83				
BRIP1	83990	broad.mit.edu	37	17	59763514	59763514	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:59763514C>A	ENST00000259008.2	-	19	2855	c.2588G>T	c.(2587-2589)tGg>tTg	p.W863L	BRIP1_ENST00000577598.1_Missense_Mutation_p.W863L	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	863					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTGCCGTACCCATTTAGAAAG	0.348			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002izk.1		NA	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			0				ovary(1)	1						c.(2587-2589)TGG>TTG	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							55.0	62.0	60.0					17																	59763514		2198	4295	6493	SO:0001583	missense	83990	Fanconi_Anemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59763514C>A	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2588G>T	17.37:g.59763514C>A	ENSP00000259008:p.Trp863Leu					BRIP1_uc002izl.1_Missense_Mutation_p.W244L	p.W863L	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			19	2729	-			863					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.2588G>T	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432952	0.83776	.	.	ENSG00000136492	ENST00000259008	D	0.93076	-3.16	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.98143	0.9387	H	0.97829	4.085	0.58432	D	0.999996	D;D	0.89917	1.0;0.993	D;P	0.97110	1.0;0.883	D	0.99113	1.0847	9	.	.	.	-6.1534	17.12	0.86699	0.0:1.0:0.0:0.0	.	863;863	C9JGZ0;Q9BX63	.;FANCJ_HUMAN	L	863	ENSP00000259008:W863L	.	W	-	2	0	BRIP1	57118296	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.586000	0.67503	2.826000	0.97356	0.655000	0.94253	TGG		0.348	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		6	80	1	0	3.86e-05	4.25e-05	6	80				
CEP112	201134	broad.mit.edu	37	17	64062993	64062993	+	Silent	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:64062993A>G	ENST00000392769.2	-	10	1076	c.858T>C	c.(856-858)atT>atC	p.I286I	CEP112_ENST00000535342.2_Silent_p.I286I|CEP112_ENST00000541355.1_5'UTR|CEP112_ENST00000537949.1_Silent_p.I244I	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	286					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TTCTTTCTAAAATCTGCAAAT	0.244																																						uc002jfl.2		NA																	0					0						c.(856-858)ATT>ATC		coiled-coil domain containing 46 isoform a							73.0	72.0	72.0					17																	64062993		2191	4287	6478	SO:0001819	synonymous_variant	201134					centrosome		g.chr17:64062993A>G	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.858T>C	17.37:g.64062993A>G						CCDC46_uc010deo.2_Silent_p.I28I|CCDC46_uc002jfm.2_Silent_p.I286I|CCDC46_uc010dep.2_Silent_p.I244I	p.I286I	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.53e-06)		10	1077	-			286			Potential.		Q6PIB5|Q8NCR4|Q8NFR4	Silent	SNP	ENST00000392769.2	37	c.858T>C	CCDS32710.1																																																																																				0.244	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		7	13	0	0	0	0	7	13				
CACNG5	27091	broad.mit.edu	37	17	64881204	64881204	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:64881204C>T	ENST00000533854.1	+	6	912	c.675C>T	c.(673-675)tcC>tcT	p.S225S	CACNG5_ENST00000307139.3_Silent_p.S225S			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	225				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). {ECO:0000305}.	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GCAACTGCTCCGATTACTCAG	0.622																																						uc010wqi.1		NA																	0				pancreas(1)|skin(1)	2						c.(673-675)TCC>TCT		voltage-dependent calcium channel gamma-5							52.0	48.0	50.0					17																	64881204		2203	4300	6503	SO:0001819	synonymous_variant	27091				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	g.chr17:64881204C>T	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.675C>T	17.37:g.64881204C>T						CACNG5_uc010wqj.1_Silent_p.S225S	p.S225S	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		6	912	+			225	SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).				A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Silent	SNP	ENST00000533854.1	37	c.675C>T	CCDS11665.1																																																																																				0.622	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		13	35	0	0	0	0	13	35				
ACTG1	71	broad.mit.edu	37	17	79478246	79478246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:79478246C>T	ENST00000575842.1	-	3	1196	c.770G>A	c.(769-771)tGt>tAt	p.C257Y	RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000331925.2_Missense_Mutation_p.C257Y|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.C257Y|ACTG1_ENST00000573283.1_Missense_Mutation_p.C257Y			P63261	ACTG_HUMAN	actin, gamma 1	257					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CGCCTCCGGACACCGGAACCG	0.577																																						uc002kaj.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(769-771)TGT>TAT		actin, gamma 1 propeptide							71.0	71.0	71.0					17																	79478246		2203	4300	6503	SO:0001583	missense	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79478246C>T		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.770G>A	17.37:g.79478246C>T	ENSP00000458162:p.Cys257Tyr					ACTG1_uc002kah.1_Missense_Mutation_p.C135Y|ACTG1_uc002kai.1_Missense_Mutation_p.C214Y|ACTG1_uc002kak.1_Missense_Mutation_p.C257Y|ACTG1_uc010wun.1_Missense_Mutation_p.C257Y|ACTG1_uc002kal.1_Missense_Mutation_p.C257Y|ACTG1_uc002kag.2_RNA	p.C257Y	NM_001614	NP_001605	P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		3	795	-	all_neural(118;0.0878)|Melanoma(429;0.242)		257					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000575842.1	37	c.770G>A	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	c	16.49	3.139002	0.56936	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.94376	-3.41	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.97964	0.9330	H	0.97707	4.06	0.58432	D	0.999999	D	0.65815	0.995	D	0.87578	0.998	D	0.99712	1.1007	10	0.87932	D	0	.	16.2178	0.82239	0.0:1.0:0.0:0.0	.	257	P63261	ACTG_HUMAN	Y	257;215	ENSP00000331514:C257Y	ENSP00000331514:C257Y	C	-	2	0	ACTG1	77092841	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.396000	0.79891	2.116000	0.64780	0.553000	0.69018	TGT		0.577	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		18	108	0	0	0	0	18	108				
PCYT2	5833	broad.mit.edu	37	17	79865452	79865452	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:79865452T>C	ENST00000538936.2	-	6	623	c.515A>G	c.(514-516)gAg>gGg	p.E172G	PCYT2_ENST00000570388.1_Missense_Mutation_p.E94G|PCYT2_ENST00000331285.3_Missense_Mutation_p.E94G|PCYT2_ENST00000570391.1_Missense_Mutation_p.E140G|PCYT2_ENST00000538721.2_Missense_Mutation_p.E172G|PCYT2_ENST00000571105.1_Missense_Mutation_p.E172G	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	172					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	GTCTGCATACTCCCGGTACTC	0.667																																						uc002kcf.1		NA																	0					0						c.(514-516)GAG>GGG		phosphate cytidylyltransferase 2, ethanolamine							55.0	40.0	45.0					17																	79865452		2203	4296	6499	SO:0001583	missense	5833				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity	g.chr17:79865452T>C	D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.515A>G	17.37:g.79865452T>C	ENSP00000439245:p.Glu172Gly					PCYT2_uc010wva.1_Missense_Mutation_p.E140G|PCYT2_uc010wvb.1_Missense_Mutation_p.E140G|PCYT2_uc002kce.1_Missense_Mutation_p.E94G|PCYT2_uc002kcg.1_Missense_Mutation_p.E183G|PCYT2_uc002kch.1_Missense_Mutation_p.E172G|PCYT2_uc002kci.1_Missense_Mutation_p.E113G|PCYT2_uc010dii.1_Missense_Mutation_p.E172G|PCYT2_uc010wvc.1_Missense_Mutation_p.E94G	p.E172G	NM_002861	NP_002852	Q99447	PCY2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		6	578	-	all_neural(118;0.0878)|Ovarian(332;0.12)		172			Catalytic 1 (Potential).		B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Missense_Mutation	SNP	ENST00000538936.2	37	c.515A>G	CCDS11791.1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.882651	0.33255	.	.	ENSG00000185813	ENST00000538721;ENST00000538936;ENST00000331285	.	.	.	4.34	4.34	0.51931	.	0.300997	0.36200	N	0.002721	T	0.30070	0.0753	N	0.24115	0.695	0.34820	D	0.738591	P;B;B;B;B	0.34662	0.462;0.136;0.053;0.354;0.239	B;B;B;B;B	0.32677	0.15;0.071;0.096;0.071;0.05	T	0.43081	-0.9413	9	0.38643	T	0.18	-25.62	7.9407	0.29957	0.0:0.0:0.2088:0.7912	.	140;140;172;94;172	B7Z4W6;B7ZAS0;F5H8B1;B7Z7A5;Q99447	.;.;.;.;PCY2_HUMAN	G	172;172;94	.	ENSP00000331719:E94G	E	-	2	0	PCYT2	77458744	0.929000	0.31497	0.976000	0.42696	0.309000	0.27889	2.559000	0.45888	1.812000	0.52913	0.459000	0.35465	GAG		0.667	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439939.1	NM_002861		3	9	0	0	0	0	3	9				
MYOM1	8736	broad.mit.edu	37	18	3116435	3116435	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:3116435C>T	ENST00000356443.4	-	21	3530	c.3197G>A	c.(3196-3198)gGg>gAg	p.G1066E	MYOM1_ENST00000400569.3_Missense_Mutation_p.G1066E|MYOM1_ENST00000261606.7_Missense_Mutation_p.G970E	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1066	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGGAGTCCGCCCGGAGTGGAC	0.547																																						uc002klp.2		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(3196-3198)GGG>GAG		myomesin 1 isoform a							40.0	41.0	41.0					18																	3116435		1894	4118	6012	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3116435C>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3197G>A	18.37:g.3116435C>T	ENSP00000348821:p.Gly1066Glu					MYOM1_uc002klq.2_Missense_Mutation_p.G970E	p.G1066E	NM_003803	NP_003794	P52179	MYOM1_HUMAN			21	3531	-			1066			Fibronectin type-III 5.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.3197G>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.895757	0.72639	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.56776	0.44;0.44;0.44	5.29	5.29	0.74685	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81182	0.4769	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86239	0.1642	10	0.72032	D	0.01	.	18.8869	0.92381	0.0:1.0:0.0:0.0	.	970;1066	P52179-2;P52179	.;MYOM1_HUMAN	E	1066;1066;970	ENSP00000348821:G1066E;ENSP00000383413:G1066E;ENSP00000261606:G970E	ENSP00000261606:G970E	G	-	2	0	MYOM1	3106435	1.000000	0.71417	0.974000	0.42286	0.566000	0.35808	7.296000	0.78790	2.642000	0.89623	0.591000	0.81541	GGG		0.547	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		22	23	0	0	0	0	22	23				
L3MBTL4	91133	broad.mit.edu	37	18	5956275	5956275	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:5956275G>A	ENST00000284898.6	-	20	2016	c.1816C>T	c.(1816-1818)Cat>Tat	p.H606Y	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.H597Y|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.H606Y|RP11-793A3.1_ENST00000577704.1_RNA|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.H410Y	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	606	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TCCTGGGAATGCCTGAACATC	0.498																																					Esophageal Squamous(41;748 902 17366 28959 43175)	uc002kmz.3		NA																	0				skin(2)|pancreas(1)	3						c.(1816-1818)CAT>TAT		l(3)mbt-like 4							194.0	187.0	189.0					18																	5956275		1921	4131	6052	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:5956275G>A	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1816C>T	18.37:g.5956275G>A	ENSP00000284898:p.His606Tyr					L3MBTL4_uc010dkt.2_Missense_Mutation_p.H606Y|L3MBTL4_uc002kmy.3_Missense_Mutation_p.H435Y	p.H606Y	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN			20	1976	-		Colorectal(10;0.0249)	606			SAM.		A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.1816C>T	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132406	0.37630	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.49	3.11	0.35812	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (1);	0.212754	0.39834	N	0.001252	T	0.08626	0.0214	N	0.22421	0.69	0.09310	N	0.999996	B;B	0.32302	0.363;0.315	B;B	0.31686	0.094;0.134	T	0.23476	-1.0187	10	0.52906	T	0.07	.	6.9106	0.24333	0.0:0.0799:0.1517:0.7684	.	606;597	Q8NA19;F8W9S8	LMBL4_HUMAN;.	Y	606;597;606;410	ENSP00000382976:H606Y;ENSP00000318543:H597Y;ENSP00000284898:H606Y;ENSP00000444774:H410Y	ENSP00000284898:H606Y	H	-	1	0	L3MBTL4	5946275	0.363000	0.24989	0.505000	0.27651	0.973000	0.67179	0.857000	0.27831	0.394000	0.25230	-0.264000	0.10439	CAT		0.498	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		48	184	0	0	0	0	48	184				
GAREM	64762	broad.mit.edu	37	18	29867752	29867752	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:29867752G>A	ENST00000269209.6	-	4	811	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000399218.4_Missense_Mutation_p.R270C|GAREM_ENST00000578619.1_5'Flank			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	270	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.R270C(1)									AACTTATAGCGGTGCCCCTCA	0.527																																						uc002kxl.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)|skin(1)	2						c.(808-810)CGC>TGC		family with sequence similarity 59, member A							180.0	155.0	164.0					18																	29867752		2203	4300	6503	SO:0001583	missense	64762							g.chr18:29867752G>A	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.808C>T	18.37:g.29867752G>A	ENSP00000269209:p.Arg270Cys					FAM59A_uc002kxk.1_Missense_Mutation_p.R270C	p.R270C	NM_022751	NP_073588	Q9H706	FA59A_HUMAN			4	864	-			270			CABIT.		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	c.808C>T	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637000	0.47049	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.15372	2.43;2.43	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.33381	0.0861	L	0.41027	1.25	0.80722	D	1	D;P	0.89917	1.0;0.856	D;B	0.91635	0.999;0.299	T	0.00458	-1.1727	10	0.41790	T	0.15	-27.8449	15.7424	0.77910	0.0:0.0:0.8553:0.1447	.	270;270	Q9H706;Q9H706-3	FA59A_HUMAN;.	C	270	ENSP00000382165:R270C;ENSP00000269209:R270C	ENSP00000269209:R270C	R	-	1	0	FAM59A	28121750	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.853000	0.69496	2.821000	0.97095	0.561000	0.74099	CGC		0.527	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		16	67	0	0	0	0	16	67				
ASXL3	80816	broad.mit.edu	37	18	31323155	31323155	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:31323155C>G	ENST00000269197.5	+	12	3343	c.3343C>G	c.(3343-3345)Caa>Gaa	p.Q1115E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1115					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGCAAAGCATCAAGCTCGAGC	0.527																																						uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(3343-3345)CAA>GAA		additional sex combs like 3							40.0	42.0	41.0					18																	31323155		1933	4135	6068	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323155C>G	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3343C>G	18.37:g.31323155C>G	ENSP00000269197:p.Gln1115Glu					ASXL3_uc002kxq.2_Missense_Mutation_p.Q822E	p.Q1115E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	3398	+			1115					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.3343C>G	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778048	0.70107	.	.	ENSG00000141431	ENST00000269197	T	0.40756	1.02	5.91	5.91	0.95273	.	1.374130	0.04508	N	0.382327	T	0.50497	0.1619	L	0.44542	1.39	0.41214	D	0.986466	D	0.56521	0.976	B	0.44315	0.446	T	0.56092	-0.8036	10	0.72032	D	0.01	.	20.3057	0.98631	0.0:1.0:0.0:0.0	.	1115	Q9C0F0	ASXL3_HUMAN	E	1115	ENSP00000269197:Q1115E	ENSP00000269197:Q1115E	Q	+	1	0	ASXL3	29577153	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.007000	0.70731	2.791000	0.96007	0.655000	0.94253	CAA		0.527	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			4	23	0	0	0	0	4	23				
TCEB3B	51224	broad.mit.edu	37	18	44559422	44559422	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:44559422C>T	ENST00000332567.4	-	1	2566	c.2214G>A	c.(2212-2214)ctG>ctA	p.L738L	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|TCEB3C_ENST00000330682.2_5'Flank|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	738					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTTGGCCATCAGCGGGGCCA	0.562																																						uc002lcr.1		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(2212-2214)CTG>CTA		elongin A2							68.0	75.0	73.0					18																	44559422		2203	4299	6502	SO:0001819	synonymous_variant	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44559422C>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.2214G>A	18.37:g.44559422C>T						KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron|TCEB3C_uc010xdb.1_5'Flank	p.L738L	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	2567	-			738					Q9P2V9	Silent	SNP	ENST00000332567.4	37	c.2214G>A	CCDS11932.1																																																																																				0.562	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		21	127	0	0	0	0	21	127				
CDH19	28513	broad.mit.edu	37	18	64202289	64202289	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:64202289T>C	ENST00000540086.1	-	8	1516	c.1270A>G	c.(1270-1272)Aca>Gca	p.T424A	CDH19_ENST00000262150.2_Missense_Mutation_p.T424A	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	532	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GAGTTACTTGTAGTGATTGTA	0.328																																						uc002lkc.1		NA																	0				ovary(1)|skin(1)	2						c.(1270-1272)ACA>GCA		cadherin 19, type 2 preproprotein							138.0	126.0	130.0					18																	64202289		2202	4295	6497	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64202289T>C	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.1270A>G	18.37:g.64202289T>C	ENSP00000439593:p.Thr424Ala					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.T424A|CDH19_uc002lkd.2_Missense_Mutation_p.T424A	p.T424A	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			8	1408	-		Esophageal squamous(42;0.0132)	424			Cadherin 4.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.1270A>G	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	T	1.959	-0.439306	0.04636	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.56444	0.46;0.46	5.24	1.54	0.23209	Cadherin (5);Cadherin-like (1);	0.677278	0.14722	N	0.302288	T	0.48003	0.1476	M	0.62154	1.92	0.09310	N	1	B;B	0.19935	0.04;0.003	B;B	0.20767	0.031;0.012	T	0.46952	-0.9154	10	0.56958	D	0.05	.	9.4956	0.38986	0.0:0.2872:0.0:0.7128	.	424;424	F5H1K0;Q9H159	.;CAD19_HUMAN	A	424;424;369	ENSP00000262150:T424A;ENSP00000439593:T424A	ENSP00000262150:T424A	T	-	1	0	CDH19	62353269	0.142000	0.22610	0.003000	0.11579	0.037000	0.13140	1.450000	0.35134	0.414000	0.25790	0.482000	0.46254	ACA		0.328	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		4	33	0	0	0	0	4	33				
TMPRSS9	360200	broad.mit.edu	37	19	2408379	2408379	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:2408379G>A	ENST00000332578.3	+	7	766	c.766G>A	c.(766-768)Gcc>Acc	p.A256T		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	256	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGTGGGTGGCCTACGTGGG	0.672																																						uc010xgx.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(766-768)GCC>ACC		transmembrane protease, serine 9							57.0	52.0	54.0					19																	2408379		2203	4300	6503	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2408379G>A	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.766G>A	19.37:g.2408379G>A	ENSP00000330264:p.Ala256Thr					TMPRSS9_uc002lvv.1_Missense_Mutation_p.A290T	p.A256T	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	766	+			256			Extracellular (Potential).|Peptidase S1 1.		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.766G>A	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551085	0.86127	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	T	0.60171	0.21	4.67	4.67	0.58626	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.46442	U	0.000298	T	0.71813	0.3384	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.69824	0.96;0.966	T	0.74490	-0.3648	10	0.56958	D	0.05	.	16.1046	0.81212	0.0:0.0:1.0:0.0	.	256;290	Q7Z410;E7EMP4	TMPS9_HUMAN;.	T	290;256	ENSP00000330264:A256T	ENSP00000330264:A256T	A	+	1	0	TMPRSS9	2359379	1.000000	0.71417	0.990000	0.47175	0.442000	0.32017	9.186000	0.94906	2.155000	0.67459	0.491000	0.48974	GCC		0.672	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		17	21	0	0	0	0	17	21				
PLIN4	729359	broad.mit.edu	37	19	4499579	4499579	+	IGR	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:4499579A>G	ENST00000301286.3	-	0	6341				HDGFRP2_ENST00000301284.4_Missense_Mutation_p.E556G|HDGFRP2_ENST00000586684.1_Missense_Mutation_p.E556G	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4							cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CCAAAGATCgaggcggtgcag	0.622																																						uc002mao.2		NA																	0					0						c.(1666-1668)GAG>GGG		hepatoma-derived growth factor-related protein 2							30.0	35.0	34.0					19																	4499579		1936	4119	6055	SO:0001628	intergenic_variant	84717				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4499579A>G	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571		19.37:g.4499579A>G						HDGFRP2_uc002map.2_Missense_Mutation_p.E556G|HDGFRP2_uc010dtz.1_RNA|HDGFRP2_uc010dua.2_Missense_Mutation_p.E21G|HDGFRP2_uc002maq.1_Missense_Mutation_p.E21G	p.E556G	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN			14	1760	+			556			Potential.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.1667A>G	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.769851	0.31320	.	.	ENSG00000167674	ENST00000301284	T	0.55413	0.52	4.2	4.2	0.49525	.	0.146306	0.46442	D	0.000289	T	0.48077	0.1480	L	0.57536	1.79	0.39715	D	0.971383	B;B;B	0.29909	0.194;0.261;0.261	B;B;B	0.26864	0.074;0.07;0.07	T	0.56414	-0.7983	10	0.72032	D	0.01	.	12.2465	0.54574	1.0:0.0:0.0:0.0	.	556;556;556	Q7Z4V5-2;C9JEE1;Q7Z4V5	.;.;HDGR2_HUMAN	G	556	ENSP00000301284:E556G	ENSP00000301284:E556G	E	+	2	0	AC011498.1	4450579	1.000000	0.71417	0.834000	0.33040	0.372000	0.29890	2.177000	0.42509	1.772000	0.52199	0.379000	0.24179	GAG		0.622	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		8	3	0	0	0	0	8	3				
CYP4F3	4051	broad.mit.edu	37	19	15760804	15760804	+	Silent	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:15760804A>T	ENST00000221307.8	+	7	776	c.729A>T	c.(727-729)atA>atT	p.I243I	CYP4F3_ENST00000585846.1_Silent_p.I243I|CYP4F3_ENST00000591058.1_Silent_p.I243I|CYP4F3_ENST00000586182.2_Silent_p.I243I	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	243					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TCCTGTACATAGACTTCCTGT	0.562																																						uc002nbj.2		NA																	0				ovary(3)	3						c.(727-729)ATA>ATT		cytochrome P450, family 4, subfamily F,							156.0	143.0	147.0					19																	15760804		2203	4300	6503	SO:0001819	synonymous_variant	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15760804A>T	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.729A>T	19.37:g.15760804A>T						CYP4F3_uc010xok.1_Silent_p.I243I|CYP4F3_uc010xol.1_Silent_p.I243I|CYP4F3_uc010xom.1_Silent_p.I94I|CYP4F3_uc002nbk.2_Silent_p.I243I|CYP4F3_uc010xon.1_5'UTR	p.I243I	NM_000896	NP_000887	Q08477	CP4F3_HUMAN			7	779	+			243					B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	c.729A>T	CCDS12332.1																																																																																				0.562	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		7	71	0	0	0	0	7	71				
ZNF506	440515	broad.mit.edu	37	19	19905448	19905448	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:19905448C>G	ENST00000540806.2	-	4	1336	c.1248G>C	c.(1246-1248)aaG>aaC	p.K416N	ZNF506_ENST00000443905.2_Missense_Mutation_p.K416N|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.6_ENST00000589657.1_RNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.K384N|ZNF506_ENST00000587461.1_Intron			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						TATGAATTTTCTTATGTTTAT	0.338																																						uc010eci.2		NA																	0					0						c.(1246-1248)AAG>AAC		zinc finger protein 506 isoform 1							67.0	73.0	71.0					19																	19905448		2041	4227	6268	SO:0001583	missense	440515				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr19:19905448C>G	AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"""Zinc fingers, C2H2-type"", ""-"""	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.1248G>C	19.37:g.19905448C>G	ENSP00000440625:p.Lys416Asn					ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.K384N	p.K416N	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN			4	1396	-			416			C2H2-type 8.		B3KTH6	Missense_Mutation	SNP	ENST00000540806.2	37	c.1248G>C	CCDS42531.1	.	.	.	.	.	.	.	.	.	.	c	13.68	2.309209	0.40895	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.36157	1.27;1.27;1.27	1.01	1.01	0.19927	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29321	0.0730	N	0.08118	0	0.25389	N	0.988545	B;D	0.63046	0.343;0.992	B;P	0.59357	0.167;0.856	T	0.10222	-1.0639	9	0.56958	D	0.05	.	4.9025	0.13782	0.0:0.6069:0.3931:0.0	.	416;384	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	N	416;416;384	ENSP00000393835:K416N;ENSP00000440625:K416N;ENSP00000408892:K384N	ENSP00000393835:K416N	K	-	3	2	ZNF506	19766448	0.000000	0.05858	0.545000	0.28153	0.502000	0.33828	-0.012000	0.12699	0.430000	0.26230	0.430000	0.28490	AAG		0.338	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460794.1	XM_036218		28	29	0	0	0	0	28	29				
NPHS1	4868	broad.mit.edu	37	19	36340485	36340485	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:36340485G>T	ENST00000378910.5	-	6	678	c.679C>A	c.(679-681)Ccc>Acc	p.P227T	NPHS1_ENST00000353632.6_Missense_Mutation_p.P227T|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	227	Ig-like C2-type 2.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCTTGATGGGGGCCTCCAGT	0.587																																						uc002oby.2		NA																	0				ovary(4)|skin(1)	5						c.(679-681)CCC>ACC		nephrin precursor							80.0	75.0	77.0					19																	36340485		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36340485G>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.679C>A	19.37:g.36340485G>T	ENSP00000368190:p.Pro227Thr						p.P227T	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	679	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		227			Ig-like C2-type 2.|Extracellular (Potential).		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.679C>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367620	0.61513	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.86164	-2.08;-2.08	5.53	4.48	0.54585	Immunoglobulin-like fold (1);	0.116625	0.64402	D	0.000016	D	0.87481	0.6188	L	0.59436	1.845	0.40334	D	0.978966	P	0.49090	0.919	P	0.49252	0.604	D	0.88425	0.3031	10	0.56958	D	0.05	-21.3497	12.6314	0.56659	0.083:0.0:0.917:0.0	.	227	O60500	NPHN_HUMAN	T	227	ENSP00000368190:P227T;ENSP00000343634:P227T	ENSP00000343634:P227T	P	-	1	0	NPHS1	41032325	0.998000	0.40836	0.951000	0.38953	0.655000	0.38815	2.984000	0.49353	2.607000	0.88179	0.591000	0.81541	CCC		0.587	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			28	55	1	0	1.31e-24	1.79e-24	28	55				
HIF3A	64344	broad.mit.edu	37	19	46815462	46815462	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:46815462G>C	ENST00000377670.4	+	7	846	c.815G>C	c.(814-816)tGt>tCt	p.C272S	HIF3A_ENST00000472815.1_Missense_Mutation_p.C203S|HIF3A_ENST00000339613.2_Missense_Mutation_p.C216S|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000244303.6_Missense_Mutation_p.C203S|HIF3A_ENST00000600383.1_Missense_Mutation_p.C203S|HIF3A_ENST00000420102.2_Missense_Mutation_p.C221S|HIF3A_ENST00000300862.3_Missense_Mutation_p.C270S	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	272	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to hypoxia (GO:0071456)|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 from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CTGATCGGCTGTTCCGCCTAC	0.602																																						uc002peh.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(814-816)TGT>TCT		hypoxia inducible factor 3, alpha subunit							151.0	136.0	141.0					19																	46815462		2203	4300	6503	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46815462G>C	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.815G>C	19.37:g.46815462G>C	ENSP00000366898:p.Cys272Ser					HIF3A_uc002pef.1_Missense_Mutation_p.C272S|HIF3A_uc002peg.3_Missense_Mutation_p.C272S|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.C216S|HIF3A_uc002pej.1_Missense_Mutation_p.C203S|HIF3A_uc002pek.2_Missense_Mutation_p.C216S|HIF3A_uc010xxy.1_Missense_Mutation_p.C203S|HIF3A_uc002pel.2_Missense_Mutation_p.C270S|HIF3A_uc010xxz.1_Missense_Mutation_p.C221S	p.C272S	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	7	844	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	272			PAS 2.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.815G>C	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357218	0.61293	.	.	ENSG00000124440	ENST00000475432;ENST00000244302;ENST00000377670;ENST00000457865;ENST00000414707;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07	4.3	4.3	0.51218	PAS fold-3 (1);PAS (3);	0.000000	0.43110	D	0.000603	T	0.21468	0.0517	N	0.02802	-0.49	0.42019	D	0.99097	B;D;P;D;P;B;B;P	0.63880	0.055;0.993;0.898;0.987;0.917;0.178;0.261;0.835	B;D;P;P;P;B;B;B	0.65573	0.054;0.936;0.525;0.867;0.656;0.148;0.113;0.381	T	0.44298	-0.9337	10	0.72032	D	0.01	.	14.6642	0.68896	0.0:0.0:1.0:0.0	.	221;203;270;221;216;272;272;272	F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185;E7EWV6	.;.;.;.;.;HIF3A_HUMAN;.;.	S	272;272;272;180;272;203;216;216;270;221	ENSP00000366898:C272S;ENSP00000244303:C203S;ENSP00000341877:C216S;ENSP00000300862:C270S;ENSP00000407771:C221S	ENSP00000244302:C272S	C	+	2	0	HIF3A	51507302	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	8.698000	0.91311	2.390000	0.81377	0.591000	0.81541	TGT		0.602	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			57	98	0	0	0	0	57	98				
ZNF432	9668	broad.mit.edu	37	19	52537631	52537631	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:52537631C>A	ENST00000594154.1	-	5	1513	c.1301G>T	c.(1300-1302)tGt>tTt	p.C434F	ZNF432_ENST00000221315.5_Missense_Mutation_p.C434F			O94892	ZN432_HUMAN	zinc finger protein 432	434					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		ACCTTTTCCACATTCACTACA	0.408																																						uc002pyk.2		NA																	0				breast(2)|pancreas(1)	3						c.(1300-1302)TGT>TTT		zinc finger protein 432							106.0	100.0	102.0					19																	52537631		2203	4300	6503	SO:0001583	missense	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52537631C>A	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1301G>T	19.37:g.52537631C>A	ENSP00000470488:p.Cys434Phe						p.C434F	NM_014650	NP_055465	O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	1619	-		all_neural(266;0.117)	434			C2H2-type 9.			Missense_Mutation	SNP	ENST00000594154.1	37	c.1301G>T	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242684	0.58995	.	.	ENSG00000256087	ENST00000221315	T	0.29655	1.56	2.81	2.81	0.32909	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.68393	0.2996	H	0.97918	4.105	0.38905	D	0.957415	D	0.76494	0.999	D	0.85130	0.997	T	0.81733	-0.0798	9	0.87932	D	0	.	12.7967	0.57564	0.0:1.0:0.0:0.0	.	434	O94892	ZN432_HUMAN	F	434	ENSP00000221315:C434F	ENSP00000221315:C434F	C	-	2	0	ZNF432	57229443	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.962000	0.63687	1.577000	0.49804	0.655000	0.94253	TGT		0.408	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		16	71	1	0	6.32e-08	7.49e-08	16	71				
ZNF610	162963	broad.mit.edu	37	19	52870011	52870011	+	Missense_Mutation	SNP	G	G	C	rs144093967	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:52870011G>C	ENST00000403906.3	+	6	1836	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	ZNF610_ENST00000601151.1_Missense_Mutation_p.Q417H|ZNF610_ENST00000321287.8_Missense_Mutation_p.Q460H|ZNF610_ENST00000327920.8_Missense_Mutation_p.Q460H	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	460					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)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GTACCTTACAGATGGAATGAA	0.393													G|||	5	0.000998403	0.0	0.0	5008	,	,		18137	0.0		0.002	False		,,,				2504	0.0031					uc002pyx.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1378-1380)CAG>CAC		zinc finger protein 610 isoform a		G	HIS/GLN,HIS/GLN,HIS/GLN,HIS/GLN	3,4403	6.2+/-15.9	0,3,2200	62.0	63.0	63.0		1380,1380,1251,1380	-0.6	0.0	19	dbSNP_134	63	30,8570	19.8+/-62.0	1,28,4271	yes	missense,missense,missense,missense	ZNF610	NM_001161425.1,NM_001161426.1,NM_001161427.1,NM_173530.2	24,24,24,24	1,31,6471	CC,CG,GG		0.3488,0.0681,0.2537	probably-damaging,probably-damaging,probably-damaging,probably-damaging	460/463,460/463,417/420,460/463	52870011	33,12973	2203	4300	6503	SO:0001583	missense	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52870011G>C	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.1380G>C	19.37:g.52870011G>C	ENSP00000383922:p.Gln460His					ZNF610_uc002pyy.3_Missense_Mutation_p.Q460H|ZNF610_uc002pyz.3_Missense_Mutation_p.Q417H|ZNF610_uc002pza.2_Missense_Mutation_p.Q460H	p.Q460H	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	6	1786	+			460					A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	c.1380G>C	CCDS12851.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	5.476	0.272893	0.10349	6.81E-4	0.003488	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.05319	3.46;3.46	1.25	-0.629	0.11533	.	.	.	.	.	T	0.03739	0.0106	N	0.20610	0.595	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.04013	0.001;0.001	T	0.41770	-0.9490	9	0.54805	T	0.06	.	2.8584	0.05578	0.5456:0.25:0.2043:0.0	.	417;460	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	H	460;417;460	ENSP00000383922:Q460H;ENSP00000327597:Q460H	ENSP00000324441:Q417H	Q	+	3	2	ZNF610	57561823	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.082000	0.14847	-0.444000	0.07170	-0.373000	0.07131	CAG		0.393	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		3	50	0	0	0	0	3	50				
ZNF415	55786	broad.mit.edu	37	19	53612056	53612056	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:53612056G>A	ENST00000500065.4	-	4	1575	c.1242C>T	c.(1240-1242)tgC>tgT	p.C414C	ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000455735.2_Silent_p.C462C|ZNF415_ENST00000601493.1_Silent_p.C184C|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000421033.1_Silent_p.C426C|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000440291.1_Silent_p.C401C|ZNF415_ENST00000243643.4_Silent_p.C414C|ZNF415_ENST00000448501.1_Silent_p.C462C	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	462					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CACATTCATTGCATTTGTAAG	0.403																																						uc002qax.2		NA																	0				ovary(1)	1						c.(1384-1386)TGC>TGT		RecName: Full=Zinc finger protein 415;							86.0	84.0	85.0					19																	53612056		2203	4300	6503	SO:0001819	synonymous_variant	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612056G>A	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.1242C>T	19.37:g.53612056G>A						ZNF415_uc002qat.2_Silent_p.C426C|ZNF415_uc002qaw.2_Silent_p.C414C|ZNF415_uc010yds.1_Silent_p.C414C|ZNF415_uc010ydt.1_Silent_p.C414C|ZNF415_uc002qau.2_Silent_p.C401C|ZNF415_uc002qav.2_Silent_p.C426C|ZNF415_uc002qba.2_Silent_p.C184C|ZNF415_uc002qay.2_Silent_p.C401C|ZNF415_uc002qaz.2_Silent_p.C462C	p.C462C	NR_028343		Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1735	-			462			C2H2-type 8.		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Silent	SNP	ENST00000500065.4	37	c.1386C>T	CCDS54313.1																																																																																				0.403	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		23	41	0	0	0	0	23	41				
NLRP12	91662	broad.mit.edu	37	19	54313980	54313980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:54313980G>T	ENST00000324134.6	-	3	1101	c.933C>A	c.(931-933)tgC>tgA	p.C311*	NLRP12_ENST00000535162.1_Nonsense_Mutation_p.C311*|NLRP12_ENST00000391775.3_Nonsense_Mutation_p.C311*|NLRP12_ENST00000391772.1_Nonsense_Mutation_p.C311*|NLRP12_ENST00000391773.1_Nonsense_Mutation_p.C311*|NLRP12_ENST00000345770.5_Nonsense_Mutation_p.C311*|NLRP12_ENST00000351894.4_Nonsense_Mutation_p.C311*|NLRP12_ENST00000354278.3_Nonsense_Mutation_p.C311*	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	311	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCAGCAGAGGCACCAGGGTC	0.567																																						uc002qch.3		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(931-933)TGC>TGA		NLR family, pyrin domain containing 12 isoform							44.0	47.0	46.0					19																	54313980		2203	4300	6503	SO:0001587	stop_gained	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313980G>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.933C>A	19.37:g.54313980G>T	ENSP00000319377:p.Cys311*					NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Nonsense_Mutation_p.C311*|NLRP12_uc002qcj.3_Nonsense_Mutation_p.C311*|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Nonsense_Mutation_p.C311*	p.C311*	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1153	-	Ovarian(34;0.19)		311			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Nonsense_Mutation	SNP	ENST00000324134.6	37	c.933C>A	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	37	6.281158	0.97440	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	.	.	.	4.47	4.47	0.54385	.	0.335277	0.22007	N	0.065929	.	.	.	.	.	.	0.21652	N	0.999608	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0654	0.59030	0.0:0.0:1.0:0.0	.	.	.	.	X	311	.	ENSP00000319377:C311X	C	-	3	2	NLRP12	59005792	0.986000	0.35501	0.751000	0.31187	0.771000	0.43674	4.990000	0.63876	2.228000	0.72767	0.306000	0.20318	TGC		0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		14	46	1	0	2.32e-09	2.83e-09	14	46				
TSEN34	79042	broad.mit.edu	37	19	54695621	54695621	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:54695621G>A	ENST00000396383.1	+	3	604	c.293G>A	c.(292-294)aGc>aAc	p.S98N	MBOAT7_ENST00000431666.2_5'Flank|TSEN34_ENST00000302937.4_Missense_Mutation_p.S98N|CTD-3093M3.1_ENST00000594382.1_lincRNA|TSEN34_ENST00000429671.2_Missense_Mutation_p.S98N|TSEN34_ENST00000396388.2_Missense_Mutation_p.S98N|MBOAT7_ENST00000474910.1_5'Flank|MBOAT7_ENST00000245615.1_5'Flank|MBOAT7_ENST00000391754.1_5'Flank|MBOAT7_ENST00000338624.6_5'Flank			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	98					mRNA processing (GO:0006397)|tRNA-type intron splice site recognition and cleavage (GO:0000379)	tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAGGAGCAGAGCGCCTTGGCA	0.582																																					Esophageal Squamous(37;841 964 4869 42824)	uc002qdu.2		NA																	0					0						c.(292-294)AGC>AAC		tRNA-intron endonuclease 34							52.0	55.0	54.0					19																	54695621		1935	4138	6073	SO:0001583	missense	79042				mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr19:54695621G>A	AF211970	CCDS42609.1, CCDS74446.1	19q13.4	2013-08-06	2013-08-06	2005-03-12	ENSG00000170892	ENSG00000170892		"""tRNA splicing endonuclease subunits"""	15506	protein-coding gene	gene with protein product		608754	"""leukocyte receptor cluster (LRC) member 5"", ""tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)"", ""tRNA splicing endonuclease 34 homolog (S. cerevisiae)"""	LENG5		10941842, 15109492	Standard	NM_024075		Approved	SEN34, SEN34L	uc002qdw.3	Q9BSV6	OTTHUMG00000066515	ENST00000396383.1:c.293G>A	19.37:g.54695621G>A	ENSP00000379667:p.Ser98Asn					MBOAT7_uc002qdq.2_5'Flank|MBOAT7_uc002qdr.2_5'Flank|MBOAT7_uc002qds.2_5'Flank|MBOAT7_uc010yen.1_5'Flank|MBOAT7_uc002qdt.3_5'Flank|TSEN34_uc010yeo.1_Missense_Mutation_p.S98N|TSEN34_uc002qdv.2_Missense_Mutation_p.S98N|TSEN34_uc002qdw.2_Missense_Mutation_p.S98N	p.S98N	NM_024075	NP_076980	Q9BSV6	SEN34_HUMAN			3	402	+	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		98					A6NNB1|B0V3J1|Q9BVT1|Q9H6H5	Missense_Mutation	SNP	ENST00000396383.1	37	c.293G>A	CCDS42609.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390027	0.25118	.	.	ENSG00000170892	ENST00000455798;ENST00000456872;ENST00000302937;ENST00000429671;ENST00000396383;ENST00000396388	T;T;T;T;T;T	0.64085	-0.08;-0.07;-0.06;-0.07;-0.06;-0.06	4.36	2.12	0.27331	.	0.565342	0.20267	N	0.095750	T	0.38214	0.1032	N	0.15975	0.35	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.15378	-1.0439	10	0.17369	T	0.5	.	8.0122	0.30359	0.2021:0.0:0.7979:0.0	.	98;98	E7EQB3;Q9BSV6	.;SEN34_HUMAN	N	98;101;98;98;98;98	ENSP00000400743:S98N;ENSP00000408689:S101N;ENSP00000305524:S98N;ENSP00000397402:S98N;ENSP00000379667:S98N;ENSP00000379671:S98N	ENSP00000305524:S98N	S	+	2	0	TSEN34	59387433	0.971000	0.33674	0.496000	0.27539	0.978000	0.69477	3.090000	0.50191	0.947000	0.37659	0.561000	0.74099	AGC		0.582	TSEN34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142200.1	NM_024075		25	72	0	0	0	0	25	72				
LILRB5	10990	broad.mit.edu	37	19	54761048	54761048	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:54761048G>A	ENST00000316219.5	-	1	116	c.9C>T	c.(7-9)ctC>ctT	p.L3L	LILRB5_ENST00000449561.2_Silent_p.L3L|LILRB5_ENST00000345866.6_Silent_p.L3L|LILRB5_ENST00000450632.1_Silent_p.L3L	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	3					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)		CTGAGAGGGTGAGGGTCATGG	0.587																																						uc002qex.2		NA																	0				ovary(1)|pancreas(1)	2						c.(7-9)CTC>CTT		leukocyte immunoglobulin-like receptor,							93.0	83.0	87.0					19																	54761048		2203	4300	6503	SO:0001819	synonymous_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54761048G>A	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.9C>T	19.37:g.54761048G>A						LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Silent_p.L3L|LILRB5_uc002qey.2_Silent_p.L3L|LILRB5_uc002qez.2_Silent_p.L3L|LILRB5_uc002qfa.1_5'UTR|LILRB5_uc010yes.1_RNA	p.L3L	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	1	120	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		3					Q8N760	Silent	SNP	ENST00000316219.5	37	c.9C>T	CCDS12885.1																																																																																				0.587	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			9	44	0	0	0	0	9	44				
ZNF471	57573	broad.mit.edu	37	19	57035697	57035697	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:57035697G>T	ENST00000308031.5	+	5	394	c.261G>T	c.(259-261)tgG>tgT	p.W87C	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TTTCAGATTGGGAATCTATAT	0.333																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	uc002qnh.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(259-261)TGG>TGT		zinc finger protein 471							63.0	63.0	63.0					19																	57035697		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57035697G>T	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.261G>T	19.37:g.57035697G>T	ENSP00000309161:p.Trp87Cys						p.W87C	NM_020813	NP_065864	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	394	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	87					B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.261G>T	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	G	5.043	0.193610	0.09599	.	.	ENSG00000196263	ENST00000308031	T	0.05855	3.38	3.34	-0.166	0.13351	.	.	.	.	.	T	0.04588	0.0125	L	0.45352	1.415	0.58432	D	0.999999	P	0.45078	0.85	B	0.37780	0.258	T	0.51710	-0.8671	9	0.37606	T	0.19	.	3.748	0.08555	0.2453:0.0:0.5619:0.1928	.	87	Q9BX82	ZN471_HUMAN	C	87	ENSP00000309161:W87C	ENSP00000309161:W87C	W	+	3	0	ZNF471	61727509	0.002000	0.14202	0.103000	0.21229	0.750000	0.42670	0.080000	0.14802	0.038000	0.15604	0.563000	0.77884	TGG		0.333	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		14	50	1	0	2.23e-06	2.55e-06	14	50				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						uc002qqo.2		NA																	10	Substitution - Missense(10)		urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)		0						c.(1210-1212)GAC>GAA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	p.D404E	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			3	1484	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	11	1	0	0.004672	0.00481588	3	11				
ZNF135	7694	broad.mit.edu	37	19	58579086	58579086	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:58579086T>A	ENST00000313434.5	+	5	1335	c.1234T>A	c.(1234-1236)Tgt>Agt	p.C412S	ZNF135_ENST00000401053.4_Missense_Mutation_p.C436S|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000511556.1_Missense_Mutation_p.C424S|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000439855.2_Missense_Mutation_p.C412S|ZNF135_ENST00000506786.1_Missense_Mutation_p.C370S	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	412					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GCCCTATGAGTGTGGTGAGTG	0.542																																						uc010yhq.1		NA																	0				ovary(1)	1						c.(1270-1272)TGT>AGT		zinc finger protein 135 isoform 2							69.0	74.0	72.0					19																	58579086		2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58579086T>A	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1234T>A	19.37:g.58579086T>A	ENSP00000321406:p.Cys412Ser					ZNF135_uc002qre.2_Missense_Mutation_p.C412S|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.C370S|ZNF135_uc002qrg.2_Missense_Mutation_p.C382S|ZNF135_uc010yhr.1_Missense_Mutation_p.C233S	p.C424S	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1366	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	424					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.1270T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.74|12.74	2.027886|2.027886	0.35797|0.35797	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786|ENST00000391699	D;D;D;D;D|.	0.85171|.	-1.95;-1.95;-1.95;-1.95;-1.95|.	3.1|3.1	3.1|3.1	0.35709|0.35709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.80722|0.80722	0.4677|0.4677	M|M	0.93420|0.93420	3.415|3.415	0.43583|0.43583	D|D	0.995923|0.995923	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.84506|0.84506	0.0619|0.0619	9|5	0.87932|.	D|.	0|.	.|.	10.6864|10.6864	0.45846|0.45846	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	424;412|.	E9PEV2;P52742|.	.;ZN135_HUMAN|.	S|R	436;412;412;424;370|429	ENSP00000441410:C436S;ENSP00000444828:C412S;ENSP00000321406:C412S;ENSP00000422074:C424S;ENSP00000427691:C370S|.	ENSP00000321406:C412S|.	C|S	+|+	1|3	0|2	ZNF135|ZNF135	63270898|63270898	1.000000|1.000000	0.71417|0.71417	0.042000|0.042000	0.18584|0.18584	0.001000|0.001000	0.01503|0.01503	5.489000|5.489000	0.66875|0.66875	1.417000|1.417000	0.47077|0.47077	0.455000|0.455000	0.32223|0.32223	TGT|AGT		0.542	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		18	25	0	0	0	0	18	25				
KIDINS220	57498	broad.mit.edu	37	2	8919048	8919048	+	Missense_Mutation	SNP	G	G	T	rs200719766		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:8919048G>T	ENST00000256707.3	-	19	2773	c.2592C>A	c.(2590-2592)gaC>gaA	p.D864E	KIDINS220_ENST00000319688.5_Missense_Mutation_p.D865E|KIDINS220_ENST00000427284.1_Missense_Mutation_p.D864E|KIDINS220_ENST00000418530.1_Missense_Mutation_p.D822E|KIDINS220_ENST00000473731.1_Missense_Mutation_p.D864E	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	864	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGCATGGAACGTCTCCATTTG	0.398																																						uc002qzc.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(2590-2592)GAC>GAA		kinase D-interacting substrate of 220 kDa							167.0	154.0	158.0					2																	8919048		1914	4138	6052	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8919048G>T	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2592C>A	2.37:g.8919048G>T	ENSP00000256707:p.Asp864Glu					KIDINS220_uc010yiv.1_Missense_Mutation_p.D630E|KIDINS220_uc002qzd.2_Missense_Mutation_p.D822E|KIDINS220_uc010yiw.1_Missense_Mutation_p.D865E	p.D864E	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			19	2774	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		864			KAP NTPase.|Cytoplasmic (Potential).		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.2592C>A	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	G	4.851	0.158133	0.09236	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.65549	0.94;-0.16;-0.13;-0.05;-0.13;-0.11;-0.1	5.64	1.21	0.21127	KAP P-loop (1);	0.179846	0.64402	D	0.000019	T	0.38746	0.1052	N	0.12182	0.205	0.46654	D	0.999149	B;B;B;B	0.20887	0.049;0.001;0.002;0.003	B;B;B;B	0.26770	0.073;0.015;0.02;0.047	T	0.06570	-1.0819	10	0.30854	T	0.27	.	6.9986	0.24797	0.6533:0.0:0.3467:0.0	.	865;865;822;864	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	E	611;548;864;864;822;864;865;865	ENSP00000420364:D611E;ENSP00000256707:D864E;ENSP00000411849:D864E;ENSP00000414923:D822E;ENSP00000418974:D864E;ENSP00000419964:D865E;ENSP00000319947:D865E	ENSP00000256707:D864E	D	-	3	2	KIDINS220	8836499	0.949000	0.32298	0.974000	0.42286	0.159000	0.22180	0.470000	0.22084	0.401000	0.25424	-0.143000	0.13931	GAC		0.398	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		17	114	1	0	1.34e-09	1.64e-09	17	114				
GALNT14	79623	broad.mit.edu	37	2	31133837	31133837	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:31133837C>G	ENST00000349752.5	-	15	2228	c.1589G>C	c.(1588-1590)gGc>gCc	p.G530A	GALNT14_ENST00000324589.5_Missense_Mutation_p.G535A|GALNT14_ENST00000406653.1_Missense_Mutation_p.G510A|GALNT14_ENST00000356174.3_Missense_Mutation_p.G497A|GALNT14_ENST00000420311.2_Missense_Mutation_p.G495A|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	530	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GATTTCCTTGCCGTTCTCGGT	0.542																																						uc002rnr.2		NA																	0				upper_aerodigestive_tract(2)|skin(1)	3						c.(1588-1590)GGC>GCC		N-acetylgalactosaminyltransferase 14							198.0	157.0	171.0					2																	31133837		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31133837C>G	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1589G>C	2.37:g.31133837C>G	ENSP00000288988:p.Gly530Ala					GALNT14_uc002rnq.2_Missense_Mutation_p.G510A|GALNT14_uc002rns.2_Missense_Mutation_p.G535A|GALNT14_uc010ymr.1_Missense_Mutation_p.G495A	p.G530A	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN			15	2208	-	Acute lymphoblastic leukemia(172;0.155)		530			Lumenal (Potential).|Ricin B-type lectin.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.1589G>C	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	C	1.842	-0.467078	0.04476	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.11	3.31	0.37934	Ricin B-related lectin (1);Ricin B lectin (3);	0.684609	0.14274	N	0.329988	T	0.34483	0.0899	L	0.46157	1.445	0.31628	N	0.649358	B;B;B;B	0.28055	0.199;0.019;0.051;0.047	B;B;B;B	0.25506	0.028;0.018;0.048;0.061	T	0.34229	-0.9837	10	0.13470	T	0.59	.	6.1496	0.20304	0.1507:0.6843:0.0:0.1651	.	495;535;530;510	F5H263;Q96FL9-3;Q96FL9;B3KV89	.;.;GLT14_HUMAN;.	A	530;535;510;497;495	ENSP00000288988:G530A;ENSP00000314500:G535A;ENSP00000385435:G510A;ENSP00000348497:G497A;ENSP00000415514:G495A	ENSP00000314500:G535A	G	-	2	0	GALNT14	30987341	0.304000	0.24472	0.397000	0.26308	0.010000	0.07245	0.570000	0.23653	0.562000	0.29204	0.655000	0.94253	GGC		0.542	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		16	71	0	0	0	0	16	71				
SMEK2	57223	broad.mit.edu	37	2	55831140	55831140	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:55831140C>T	ENST00000345102.5	-	3	572	c.271G>A	c.(271-273)Gat>Aat	p.D91N	SMEK2_ENST00000407823.3_Missense_Mutation_p.D91N|SMEK2_ENST00000272313.5_Missense_Mutation_p.D91N	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	91	WH1.				positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGATCTCATCACAGCCAGCT	0.299																																						uc002rzc.2		NA																	0				skin(1)	1						c.(271-273)GAT>AAT		SMEK homolog 2, suppressor of mek1 isoform 1							75.0	76.0	76.0					2																	55831140		2203	4300	6503	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55831140C>T	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.271G>A	2.37:g.55831140C>T	ENSP00000339769:p.Asp91Asn					SMEK2_uc002rzb.2_Missense_Mutation_p.D91N|SMEK2_uc002rzd.2_Missense_Mutation_p.D91N|SMEK2_uc002rza.2_5'UTR	p.D91N	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		3	646	-			91			WH1.		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.271G>A	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	C	35	5.473730	0.96291	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.44083	0.93;0.93;0.93	5.58	5.58	0.84498	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.57607	0.2065	L	0.42632	1.34	0.80722	D	1	P;D;P	0.76494	0.729;0.999;0.537	P;D;B	0.72982	0.493;0.979;0.32	T	0.48091	-0.9065	10	0.27082	T	0.32	-13.8234	19.5581	0.95361	0.0:1.0:0.0:0.0	.	91;91;91	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3	.;P4R3B_HUMAN;.	N	91	ENSP00000272313:D91N;ENSP00000385912:D91N;ENSP00000339769:D91N	ENSP00000272313:D91N	D	-	1	0	SMEK2	55684644	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.611000	0.88343	0.591000	0.81541	GAT		0.299	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		16	65	0	0	0	0	16	65				
LMAN2L	81562	broad.mit.edu	37	2	97370099	97370099	+	IGR	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:97370099G>A	ENST00000264963.4	-	0	2397				FER1L5_ENST00000457909.1_RNA	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like						ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						ATTCAGCTCCGGTGAGTGGCA	0.483																																						uc010fia.2		NA																	0				ovary(1)	1						c.(6055-6057)CCG>CCA		fer-1-like 5 isoform 2							135.0	142.0	140.0					2																	97370099		1990	4173	6163	SO:0001628	intergenic_variant	90342					integral to membrane		g.chr2:97370099G>A	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453		2.37:g.97370099G>A						FER1L5_uc002sws.3_Silent_p.P728P|FER1L5_uc002swt.3_Silent_p.P728P|FER1L5_uc010yus.1_Silent_p.P727P	p.P2019P	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN			51	6057	+			2019					B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Silent	SNP	ENST00000264963.4	37	c.6057G>A	CCDS2023.1																																																																																				0.483	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		58	120	0	0	0	0	58	120				
LRP1B	53353	broad.mit.edu	37	2	141027836	141027836	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:141027836G>C	ENST00000389484.3	-	86	14193	c.13222C>G	c.(13222-13224)Ccc>Gcc	p.P4408A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4408	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTGTCTCGGGGTCCAGCTGG	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(13222-13224)CCC>GCC		low density lipoprotein-related protein 1B							117.0	105.0	109.0					2																	141027836		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141027836G>C	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13222C>G	2.37:g.141027836G>C	ENSP00000374135:p.Pro4408Ala	TSP Lung(27;0.18)					p.P4408A	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	86	14194	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4408			Extracellular (Potential).|EGF-like 14.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13222C>G	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861115	0.71949	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.40476	1.03	5.73	3.9	0.45041	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	U	0.000001	T	0.28632	0.0709	L	0.39020	1.185	0.41102	D	0.985675	B	0.27229	0.172	B	0.25140	0.058	T	0.04781	-1.0927	10	0.07990	T	0.79	.	11.053	0.47901	0.0667:0.0:0.8039:0.1294	.	4408	Q9NZR2	LRP1B_HUMAN	A	4408;4346	ENSP00000374135:P4408A	ENSP00000374135:P4408A	P	-	1	0	LRP1B	140744306	1.000000	0.71417	0.986000	0.45419	0.828000	0.46876	5.358000	0.66064	0.845000	0.35118	0.655000	0.94253	CCC		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		19	38	0	0	0	0	19	38				
LRP1B	53353	broad.mit.edu	37	2	141128763	141128763	+	Silent	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:141128763A>G	ENST00000389484.3	-	70	11831	c.10860T>C	c.(10858-10860)gcT>gcC	p.A3620A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3620	LDL-receptor class A 28. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGAACCATCAGCACAATCAT	0.303										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(10858-10860)GCT>GCC		low density lipoprotein-related protein 1B							34.0	33.0	34.0					2																	141128763		2201	4289	6490	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141128763A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10860T>C	2.37:g.141128763A>G		TSP Lung(27;0.18)					p.A3620A	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	70	11832	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3620			Extracellular (Potential).|LDL-receptor class A 28.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.10860T>C	CCDS2182.1																																																																																				0.303	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		3	21	0	0	0	0	3	21				
LRP1B	53353	broad.mit.edu	37	2	141571366	141571366	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:141571366A>G	ENST00000389484.3	-	32	6190	c.5219T>C	c.(5218-5220)aTa>aCa	p.I1740T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1740					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACATAGTCTATCGATAGACC	0.343										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(5218-5220)ATA>ACA		low density lipoprotein-related protein 1B							111.0	100.0	104.0					2																	141571366		2201	4300	6501	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141571366A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5219T>C	2.37:g.141571366A>G	ENSP00000374135:p.Ile1740Thr	TSP Lung(27;0.18)					p.I1740T	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	32	6191	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1740			Extracellular (Potential).|LDL-receptor class B 16.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5219T>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.390856	0.62066	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91945	-2.94	5.71	5.71	0.89125	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96327	0.8802	M	0.86097	2.795	0.58432	D	0.999996	D	0.76494	0.999	D	0.78314	0.991	D	0.96930	0.9680	10	0.87932	D	0	.	15.9781	0.80086	1.0:0.0:0.0:0.0	.	1740	Q9NZR2	LRP1B_HUMAN	T	1740;1678	ENSP00000374135:I1740T	ENSP00000374135:I1740T	I	-	2	0	LRP1B	141287836	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.282000	0.95840	2.171000	0.68590	0.533000	0.62120	ATA		0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	58	0	0	0	0	7	58				
MBD5	55777	broad.mit.edu	37	2	149226943	149226943	+	Silent	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:149226943A>T	ENST00000407073.1	+	9	2428	c.1431A>T	c.(1429-1431)gtA>gtT	p.V477V	MBD5_ENST00000404807.1_Silent_p.V477V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	477					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGCCACCTGTAGGACCCCAGG	0.502																																						uc002twm.3		NA																	0				skin(3)|ovary(2)	5						c.(1429-1431)GTA>GTT		methyl-CpG binding domain protein 5							65.0	64.0	64.0					2																	149226943		2203	4300	6503	SO:0001819	synonymous_variant	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149226943A>T	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.1431A>T	2.37:g.149226943A>T						MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Silent_p.V477V|MBD5_uc002twn.1_5'Flank	p.V477V	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	2419	+			477					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	ENST00000407073.1	37	c.1431A>T	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	A	3.618	-0.078079	0.07184	.	.	ENSG00000204406	ENST00000416015	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.1947	14.0813	0.64925	1.0:0.0:0.0:0.0	.	.	.	.	L	217	.	.	X	+	2	0	MBD5	148943413	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.561000	0.23515	1.980000	0.57719	0.533000	0.62120	TAG		0.502	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			7	31	0	0	0	0	7	31				
IFIH1	64135	broad.mit.edu	37	2	163134806	163134806	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:163134806C>A	ENST00000263642.2	-	9	2069	c.1674G>T	c.(1672-1674)atG>atT	p.M558I		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	558					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GAATCCTTGTCATTATTTCTA	0.289																																						uc002uce.2		NA																	0				ovary(1)	1						c.(1672-1674)ATG>ATT		interferon induced with helicase C domain 1							88.0	91.0	90.0					2																	163134806		2202	4299	6501	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163134806C>A	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1674G>T	2.37:g.163134806C>A	ENSP00000263642:p.Met558Ile						p.M558I	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN			9	1896	-			558					Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.1674G>T	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797445	0.90538	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.08984	3.03	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.37348	0.1000	M	0.90082	3.085	0.80722	D	1	D	0.63046	0.992	D	0.63877	0.919	T	0.35895	-0.9770	10	0.72032	D	0.01	-25.9528	19.9923	0.97371	0.0:1.0:0.0:0.0	.	558	Q9BYX4	IFIH1_HUMAN	I	558	ENSP00000263642:M558I	ENSP00000263642:M558I	M	-	3	0	IFIH1	162843052	1.000000	0.71417	0.998000	0.56505	0.889000	0.51656	7.213000	0.77950	2.729000	0.93468	0.585000	0.79938	ATG		0.289	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		5	38	1	0	1.24e-05	1.38e-05	5	38				
COL5A2	1290	broad.mit.edu	37	2	189962019	189962019	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:189962019C>T	ENST00000374866.3	-	6	714	c.440G>A	c.(439-441)gGg>gAg	p.G147E	AC133106.2_ENST00000419029.1_RNA	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	147					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCTTTTGGCCCTCGCTCTCC	0.443																																						uc002uqk.2		NA																	0				ovary(2)	2						c.(439-441)GGG>GAG		alpha 2 type V collagen preproprotein							173.0	145.0	154.0					2																	189962019		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189962019C>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.440G>A	2.37:g.189962019C>T	ENSP00000364000:p.Gly147Glu						p.G147E	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		6	715	-			147					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.440G>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658754	0.88154	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99353	-5.77	5.7	5.7	0.88788	.	0.000000	0.53938	D	0.000041	D	0.99711	0.9889	H	0.98996	4.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97280	0.9917	9	.	.	.	.	16.7461	0.85471	0.0:1.0:0.0:0.0	.	147	P05997	CO5A2_HUMAN	E	147;21	ENSP00000364000:G147E	.	G	-	2	0	COL5A2	189670264	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.775000	0.68915	2.684000	0.91462	0.650000	0.86243	GGG		0.443	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		8	55	0	0	0	0	8	55				
DNAH7	56171	broad.mit.edu	37	2	196834805	196834805	+	Missense_Mutation	SNP	C	C	T	rs368206641		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:196834805C>T	ENST00000312428.6	-	17	2172	c.2072G>A	c.(2071-2073)cGg>cAg	p.R691Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	691	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTCCACAAACCGTTCACACCG	0.323																																						uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(2071-2073)CGG>CAG		dynein, axonemal, heavy chain 7		C	GLN/ARG	0,3624		0,0,1812	89.0	82.0	84.0		2072	5.5	0.9	2		84	1,8121		0,1,4060	no	missense	DNAH7	NM_018897.2	43	0,1,5872	TT,TC,CC		0.0123,0.0,0.0085	benign	691/4025	196834805	1,11745	1812	4061	5873	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196834805C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2072G>A	2.37:g.196834805C>T	ENSP00000311273:p.Arg691Gln						p.R691Q	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			17	2173	-			691			Stem (By similarity).|Potential.		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.2072G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538092	0.27475	0.0	1.23E-4	ENSG00000118997	ENST00000312428	T	0.21191	2.02	5.51	5.51	0.81932	.	0.069004	0.51477	D	0.000083	T	0.22898	0.0553	M	0.76838	2.35	0.80722	D	1	B	0.23650	0.089	B	0.12156	0.007	T	0.04607	-1.0939	10	0.12766	T	0.61	.	10.3686	0.44039	0.0:0.8517:0.0:0.1483	.	691	Q8WXX0	DYH7_HUMAN	Q	691	ENSP00000311273:R691Q	ENSP00000311273:R691Q	R	-	2	0	DNAH7	196543050	0.289000	0.24334	0.864000	0.33941	0.573000	0.36030	3.360000	0.52299	2.759000	0.94783	0.591000	0.81541	CGG		0.323	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		19	54	0	0	0	0	19	54				
PLCL1	5334	broad.mit.edu	37	2	198950188	198950188	+	Missense_Mutation	SNP	C	C	G	rs151231252		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:198950188C>G	ENST00000428675.1	+	2	2345	c.1947C>G	c.(1945-1947)atC>atG	p.I649M	PLCL1_ENST00000437704.2_Missense_Mutation_p.I551M	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	649	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.I551I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CCATGAGGATCGATTCCAGTA	0.423																																						uc010fsp.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)|skin(1)	2						c.(1945-1947)ATC>ATG		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						40.0	43.0	42.0					2																	198950188		2203	4299	6502	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950188C>G	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1947C>G	2.37:g.198950188C>G	ENSP00000402861:p.Ile649Met					PLCL1_uc002uuv.3_Missense_Mutation_p.I570M	p.I649M	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	2238	+			649			PI-PLC Y-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1947C>G	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	9.229	1.035386	0.19590	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.69435	-0.4;-0.4	5.36	-10.7	0.00240	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.082159	0.51477	D	0.000094	T	0.61788	0.2375	L	0.58101	1.795	0.31647	N	0.647302	P;P	0.47409	0.895;0.791	P;P	0.53006	0.715;0.715	T	0.74659	-0.3591	9	.	.	.	.	11.4431	0.50109	0.2316:0.1035:0.0:0.6649	.	649;575	Q15111;B4DYZ4	PLCL1_HUMAN;.	M	649;551	ENSP00000402861:I649M;ENSP00000414138:I551M	.	I	+	3	3	PLCL1	198658433	0.001000	0.12720	0.229000	0.23960	0.907000	0.53573	-1.507000	0.02268	-2.389000	0.00587	-0.258000	0.10820	ATC		0.423	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		5	45	0	0	0	0	5	45				
ABCA12	26154	broad.mit.edu	37	2	215880315	215880315	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:215880315T>A	ENST00000272895.7	-	15	2074	c.1855A>T	c.(1855-1857)Aaa>Taa	p.K619*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.K301*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	619					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAGAATTCTTTCATTGCATCT	0.403																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2		NA																	0				ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(1855-1857)AAA>TAA		ATP-binding cassette, sub-family A, member 12							107.0	103.0	104.0					2																	215880315		2203	4300	6503	SO:0001587	stop_gained	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215880315T>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1855A>T	2.37:g.215880315T>A	ENSP00000272895:p.Lys619*					ABCA12_uc002vev.2_Nonsense_Mutation_p.K301*|ABCA12_uc010zjn.1_5'UTR	p.K619*	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	15	2075	-		Renal(323;0.127)	619					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Nonsense_Mutation	SNP	ENST00000272895.7	37	c.1855A>T	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	32	5.152643	0.94645	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	5.47	0.24	0.15489	.	0.558878	0.18137	N	0.150544	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6616	0.17672	0.0:0.2937:0.1341:0.5722	.	.	.	.	X	619;301	.	ENSP00000272895:K619X	K	-	1	0	ABCA12	215588560	0.035000	0.19736	0.995000	0.50966	0.303000	0.27691	-0.322000	0.08007	-0.109000	0.12044	0.533000	0.62120	AAA		0.403	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		8	25	0	0	0	0	8	25				
MYEOV2	150678	broad.mit.edu	37	2	241066107	241066107	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:241066107C>A	ENST00000307266.3	-	5	631	c.632G>T	c.(631-633)aGc>aTc	p.S211I		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		GCTGTCTTCGCTGACCTCTCG	0.478																																						uc002vyu.1		NA																	0					0						c.(631-633)AGC>ATC		hypothetical protein LOC150678 isoform 1							245.0	201.0	216.0					2																	241066107		2203	4300	6503	SO:0001583	missense	150678							g.chr2:241066107C>A	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000307266.3:c.632G>T	2.37:g.241066107C>A	ENSP00000304147:p.Ser211Ile						p.S211I	NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	5	632	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	Error:Variant_position_missing_in_Q8WXC6_after_alignment					Q8N110	Missense_Mutation	SNP	ENST00000307266.3	37	c.632G>T	CCDS2532.1	.	.	.	.	.	.	.	.	.	.	C	9.144	1.014593	0.19355	.	.	ENSG00000172428	ENST00000307266	.	.	.	1.53	-3.06	0.05379	.	.	.	.	.	T	0.28896	0.0717	.	.	.	0.09310	N	1	B	0.27192	0.171	B	0.20577	0.03	T	0.10706	-1.0618	7	0.87932	D	0	.	8.499	0.33146	0.0:0.6984:0.0:0.3016	.	211	Q8WXC6-1	.	I	211	.	ENSP00000304147:S211I	S	-	2	0	MYEOV2	240714780	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.074000	0.01375	-1.436000	0.01970	-1.238000	0.01547	AGC		0.478	MYEOV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257182.2	NM_138336		41	57	1	0	2.66e-13	3.42e-13	41	57				
CSNK2A1	1457	broad.mit.edu	37	20	489118	489118	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr20:489118G>T	ENST00000217244.3	-	3	453	c.78C>A	c.(76-78)taC>taA	p.Y26*	CSNK2A1_ENST00000400217.2_Intron|CSNK2A1_ENST00000400227.3_Nonsense_Mutation_p.Y26*|CSNK2A1_ENST00000349736.5_Nonsense_Mutation_p.Y26*	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	26					axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CATGTGACTCGTAATCCCAGT	0.458																																						uc002wdw.1		NA																	0				ovary(1)	1						c.(76-78)TAC>TAA		casein kinase II alpha 1 subunit isoform a							143.0	123.0	130.0					20																	489118		2203	4300	6503	SO:0001587	stop_gained	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:489118G>T	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.78C>A	20.37:g.489118G>T	ENSP00000217244:p.Tyr26*					CSNK2A1_uc002wdx.1_Nonsense_Mutation_p.Y26*|CSNK2A1_uc002wdy.1_Intron	p.Y26*	NM_177559	NP_808227	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		3	471	-		Breast(17;0.231)	26					B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Nonsense_Mutation	SNP	ENST00000217244.3	37	c.78C>A	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	G	35	5.502709	0.96371	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973	.	.	.	5.14	-5.03	0.02973	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3143	13.7796	0.63075	0.6518:0.0:0.3482:0.0	.	.	.	.	X	26	.	ENSP00000217244:Y26X	Y	-	3	2	CSNK2A1	437118	0.529000	0.26322	0.895000	0.35142	0.994000	0.84299	-0.074000	0.11450	-1.286000	0.02384	-0.140000	0.14226	TAC		0.458	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		33	29	1	0	1.59e-14	2.07e-14	33	29				
ZHX3	23051	broad.mit.edu	37	20	39832794	39832794	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr20:39832794C>A	ENST00000309060.3	-	4	1178	c.763G>T	c.(763-765)Ggg>Tgg	p.G255W	ZHX3_ENST00000432768.2_Missense_Mutation_p.G255W|ZHX3_ENST00000544979.2_Missense_Mutation_p.G255W|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.G255W|ZHX3_ENST00000559234.1_Missense_Mutation_p.G255W|ZHX3_ENST00000560361.1_Missense_Mutation_p.G255W|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	255	Required for homodimerization and interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				ATCAGGGGCCCGTTGGCGGCA	0.582																																						uc002xjs.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(763-765)GGG>TGG		zinc fingers and homeoboxes 3							55.0	54.0	54.0					20																	39832794		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39832794C>A	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.763G>T	20.37:g.39832794C>A	ENSP00000312222:p.Gly255Trp					ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.G255W|ZHX3_uc002xjt.1_Missense_Mutation_p.G255W|ZHX3_uc002xju.1_Missense_Mutation_p.G255W|ZHX3_uc002xjv.1_Missense_Mutation_p.G255W|ZHX3_uc002xjw.1_Missense_Mutation_p.G255W|ZHX3_uc010ggg.1_Missense_Mutation_p.G255W	p.G255W	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN			3	1141	-		Myeloproliferative disorder(115;0.00425)	255			Required for homodimerization and interaction with NFYA.		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.763G>T	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276776	0.80580	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768	T;T;T;T;T	0.33216	1.42;2.84;2.84;2.63;1.42	6.07	6.07	0.98685	.	0.047440	0.85682	D	0.000000	T	0.59169	0.2174	M	0.72894	2.215	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	T	0.58053	-0.7704	10	0.87932	D	0	-20.8345	20.6439	0.99570	0.0:1.0:0.0:0.0	.	255;255;255	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	W	255;255;255;255;33;255	ENSP00000312222:G255W;ENSP00000362360:G255W;ENSP00000442290:G255W;ENSP00000443783:G255W;ENSP00000415498:G255W	ENSP00000312222:G255W	G	-	1	0	ZHX3	39266208	0.909000	0.30893	0.981000	0.43875	0.407000	0.30961	3.261000	0.51530	2.884000	0.98904	0.655000	0.94253	GGG		0.582	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		22	69	1	0	1.87e-06	2.14e-06	22	69				
L3MBTL1	26013	broad.mit.edu	37	20	42168941	42168941	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr20:42168941T>A	ENST00000427442.2	+	20	2417	c.2258T>A	c.(2257-2259)aTc>aAc	p.I753N	L3MBTL1_ENST00000373135.3_Missense_Mutation_p.I685N|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.I685N|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.I690N|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.I753N			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	685					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						AAGTGGACCATCGATGAGGTG	0.612																																						uc010zwh.1		NA																	0					0						c.(2257-2259)ATC>AAC		l(3)mbt-like isoform I							82.0	74.0	76.0					20																	42168941		2203	4300	6503	SO:0001583	missense	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42168941T>A	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.2258T>A	20.37:g.42168941T>A	ENSP00000402107:p.Ile753Asn					L3MBTL_uc002xkl.2_Missense_Mutation_p.I685N|L3MBTL_uc002xkm.2_Missense_Mutation_p.I685N|L3MBTL_uc010ggl.2_Missense_Mutation_p.I690N|L3MBTL_uc002xkn.1_Missense_Mutation_p.I444N|L3MBTL_uc002xko.2_Missense_Mutation_p.I337N|L3MBTL_uc002xkp.2_Missense_Mutation_p.I73N|SGK2_uc002xkq.1_5'UTR	p.I753N	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		20	2304	+		Myeloproliferative disorder(115;0.00452)	685			SAM.		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	c.2258T>A	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	T	22.3	4.275167	0.80580	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861;ENST00000373133	T;T;T;T;T;T	0.49139	2.06;2.06;2.05;2.04;2.05;0.79	5.56	5.56	0.83823	.	0.061247	0.64402	D	0.000003	T	0.56321	0.1977	L	0.49513	1.565	0.43099	D	0.99478	B;B;D;P;B	0.71674	0.317;0.171;0.998;0.935;0.317	B;B;D;P;B	0.69142	0.193;0.124;0.962;0.748;0.124	T	0.56757	-0.7926	10	0.33141	T	0.24	.	7.0345	0.24985	0.0:0.1632:0.0:0.8368	.	753;337;73;685;685	Q9Y468-5;Q9Y468-3;Q6ZWF5;Q9Y468-2;Q9Y468-1	.;.;.;.;.	N	753;753;685;685;690;471;337	ENSP00000402107:I753N;ENSP00000398516:I753N;ENSP00000362227:I685N;ENSP00000403316:I685N;ENSP00000362226:I690N;ENSP00000410139:I471N	ENSP00000362225:I337N	I	+	2	0	L3MBTL1	41602355	0.992000	0.36948	1.000000	0.80357	0.968000	0.65278	2.243000	0.43115	2.108000	0.64289	0.533000	0.62120	ATC		0.612	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		34	43	0	0	0	0	34	43				
EDN3	1908	broad.mit.edu	37	20	57896161	57896161	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr20:57896161C>T	ENST00000337938.2	+	3	841	c.455C>T	c.(454-456)tCa>tTa	p.S152L	EDN3_ENST00000395654.3_Missense_Mutation_p.S152L|EDN3_ENST00000371025.3_Missense_Mutation_p.S152L|EDN3_ENST00000311585.7_Missense_Mutation_p.S152L|EDN3_ENST00000371028.2_Missense_Mutation_p.S152L	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	152					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CTGCAGCTCTCACATCGGCCA	0.582																																						uc002yap.2		NA																	0				skin(1)	1						c.(454-456)TCA>TTA		endothelin 3 isoform 1 preproprotein							115.0	104.0	107.0					20																	57896161		2203	4300	6503	SO:0001583	missense	1908				cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	g.chr20:57896161C>T	X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"""Endogenous ligands"""	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.455C>T	20.37:g.57896161C>T	ENSP00000337128:p.Ser152Leu					EDN3_uc002yao.1_Missense_Mutation_p.S152L|EDN3_uc002yaq.2_Missense_Mutation_p.S152L|EDN3_uc002yar.2_Missense_Mutation_p.S152L|EDN3_uc002yas.2_Missense_Mutation_p.S152L	p.S152L	NM_000114	NP_000105	P14138	EDN3_HUMAN			3	824	+	all_lung(29;0.0115)		152					E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Missense_Mutation	SNP	ENST00000337938.2	37	c.455C>T	CCDS13477.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667711	0.47677	.	.	ENSG00000124205	ENST00000337938;ENST00000311585;ENST00000371028;ENST00000371025;ENST00000395654	D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99	4.87	0.393	0.16294	.	0.819911	0.10844	N	0.627904	T	0.78039	0.4221	L	0.60455	1.87	0.09310	N	1	P;P;P;P	0.50710	0.473;0.873;0.938;0.873	B;B;B;B	0.42555	0.284;0.387;0.391;0.387	T	0.68021	-0.5519	10	0.40728	T	0.16	-0.6632	1.1491	0.01782	0.1837:0.4377:0.1779:0.2007	.	152;152;152;152	P14138-2;Q7Z6D2;P14138;Q4FAT2	.;.;EDN3_HUMAN;.	L	152	ENSP00000337128:S152L;ENSP00000311854:S152L;ENSP00000360067:S152L;ENSP00000360064:S152L;ENSP00000379015:S152L	ENSP00000311854:S152L	S	+	2	0	EDN3	57329556	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.222000	0.17699	0.562000	0.29204	0.561000	0.74099	TCA		0.582	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2	NM_000114		33	77	0	0	0	0	33	77				
LAMA5	3911	broad.mit.edu	37	20	60908211	60908211	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr20:60908211G>A	ENST00000252999.3	-	26	3283	c.3217C>T	c.(3217-3219)Cgg>Tgg	p.R1073W	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1073	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGGCAGGGCCGGGGCAGGCTG	0.701																																						uc002ycq.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(3217-3219)CGG>TGG		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						12.0	15.0	14.0					20																	60908211		2177	4263	6440	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60908211G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.3217C>T	20.37:g.60908211G>A	ENSP00000252999:p.Arg1073Trp						p.R1073W	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		26	3284	-	Breast(26;1.57e-08)		1073			Domain IV 1 (domain IV B).		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.3217C>T	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992130	0.74703	.	.	ENSG00000130702	ENST00000252999	T	0.20200	2.09	4.89	1.44	0.22558	.	0.108090	0.64402	D	0.000020	T	0.19725	0.0474	M	0.65975	2.015	0.80722	D	1	B	0.26445	0.149	B	0.20577	0.03	T	0.05716	-1.0868	10	0.72032	D	0.01	.	6.9231	0.24399	0.0961:0.0:0.3321:0.5717	.	1073	O15230	LAMA5_HUMAN	W	1073	ENSP00000252999:R1073W	ENSP00000252999:R1073W	R	-	1	2	LAMA5	60341606	1.000000	0.71417	0.961000	0.40146	0.981000	0.71138	3.587000	0.53957	0.442000	0.26555	0.561000	0.74099	CGG		0.701	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		8	6	0	0	0	0	8	6				
TFIP11	24144	broad.mit.edu	37	22	26894935	26894935	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr22:26894935T>A	ENST00000407690.1	-	10	1619	c.1336A>T	c.(1336-1338)Act>Tct	p.T446S	TFIP11_ENST00000407148.1_Missense_Mutation_p.T446S|TFIP11_ENST00000405938.1_Missense_Mutation_p.T446S|TFIP11_ENST00000407431.1_Missense_Mutation_p.T446S|TFIP11_ENST00000496523.1_5'Flank	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	446					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GTGCCATAAGTGCAGTCCTGA	0.557																																						uc003acr.2		NA																	0					0						c.(1336-1338)ACT>TCT		tuftelin interacting protein 11							143.0	138.0	140.0					22																	26894935		2203	4300	6503	SO:0001583	missense	24144				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:26894935T>A	AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1336A>T	22.37:g.26894935T>A	ENSP00000384421:p.Thr446Ser					TFIP11_uc003acs.2_Missense_Mutation_p.T446S|TFIP11_uc003act.2_Missense_Mutation_p.T446S	p.T446S	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN			9	1710	-			446					O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	ENST00000407690.1	37	c.1336A>T	CCDS13838.1	.	.	.	.	.	.	.	.	.	.	T	8.938	0.965188	0.18583	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.05	2.9	0.33743	GC-rich sequence DNA-binding factor domain (1);	0.301158	0.36815	N	0.002384	T	0.20901	0.0503	N	0.17312	0.475	0.29889	N	0.82536	B	0.02656	0.0	B	0.04013	0.001	T	0.26538	-1.0100	10	0.07175	T	0.84	-8.6052	8.0982	0.30842	0.0:0.1714:0.0:0.8286	.	446	Q9UBB9	TFP11_HUMAN	S	446;446;446;131;446	ENSP00000384421:T446S;ENSP00000383892:T446S;ENSP00000385861:T446S;ENSP00000384297:T446S	ENSP00000384297:T446S	T	-	1	0	TFIP11	25224935	0.031000	0.19500	0.367000	0.25926	0.537000	0.34900	0.459000	0.21908	0.405000	0.25532	0.533000	0.62120	ACT		0.557	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697		106	63	0	0	0	0	106	63				
ADSL	158	broad.mit.edu	37	22	40757500	40757501	+	Missense_Mutation	DNP	GC	GC	TG			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr22:40757500_40757501GC>TG	ENST00000216194.7	+	9	927_928	c.871_872GC>TG	c.(871-873)GCg>TGg	p.A291W	ADSL_ENST00000342312.6_Missense_Mutation_p.A291W|ADSL_ENST00000480775.1_3'UTR|ADSL_ENST00000454266.2_Missense_Mutation_p.A305W	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	291					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)	p.A291V(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						AGGCTCAAGTGCGATGCCATAT	0.525																																					Colon(4;65 130 1097 1516)	uc003ayp.3		NA																	2	Substitution - Missense(2)		large_intestine(2)	ovary(1)	1						c.(871-873)GCG>TGG		adenylosuccinate lyase isoform a																																				SO:0001583	missense	158				AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	g.chr22:40757500_40757501GC>TG	X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	Exception_encountered	22.37:g.40757500_40757501delinsTG	ENSP00000216194:p.Ala291Trp					ADSL_uc003ays.3_Missense_Mutation_p.A291W|ADSL_uc003ayq.3_Missense_Mutation_p.A291W|ADSL_uc003ayr.3_Missense_Mutation_p.A67W|ADSL_uc003ayt.3_Missense_Mutation_p.A276W|ADSL_uc010gyb.1_RNA	p.A291W	NM_000026	NP_000017	P30566	PUR8_HUMAN			9	930_931	+			291					B0QY76|O75495|Q5TI34	Missense_Mutation	DNP	ENST00000216194.7	37	c.871_872GC>TG	CCDS14001.1																																																																																				0.525	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		17	99	0	0	0	0	17	99				
SGSM3	27352	broad.mit.edu	37	22	40800432	40800432	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr22:40800432C>T	ENST00000248929.9	+	5	528	c.339C>T	c.(337-339)gcC>gcT	p.A113A	SGSM3_ENST00000454798.2_Silent_p.A46A	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TGGTGCTGGCCGGCATCCCAC	0.607																																						uc003ayu.1		NA																	0				ovary(2)	2						c.(337-339)GCC>GCT		small G protein signaling modulator 3							46.0	39.0	41.0					22																	40800432		2203	4300	6503	SO:0001819	synonymous_variant	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40800432C>T	AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	25228	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.339C>T	22.37:g.40800432C>T						SGSM3_uc010gyc.1_Silent_p.A113A|SGSM3_uc011aos.1_Silent_p.A46A|SGSM3_uc011aot.1_Silent_p.A50A|SGSM3_uc010gyd.1_Silent_p.A113A	p.A113A	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN			5	548	+			113						Silent	SNP	ENST00000248929.9	37	c.339C>T	CCDS14002.1																																																																																				0.607	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705		23	12	0	0	0	0	23	12				
CELSR1	9620	broad.mit.edu	37	22	46806456	46806456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr22:46806456G>A	ENST00000262738.3	-	7	4771	c.4772C>T	c.(4771-4773)tCc>tTc	p.S1591F		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1591	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGATCCAGGGACCTGGGTAG	0.642																																						uc003bhw.1		NA																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(4771-4773)TCC>TTC		cadherin EGF LAG seven-pass G-type receptor 1							45.0	45.0	45.0					22																	46806456		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46806456G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4772C>T	22.37:g.46806456G>A	ENSP00000262738:p.Ser1591Phe					CELSR1_uc011arc.1_5'Flank	p.S1591F	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	7	4772	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1591			Extracellular (Potential).|Laminin G-like 1.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.4772C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228362	0.79576	.	.	ENSG00000075275	ENST00000262738	T	0.77877	-1.13	4.73	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	U	0.000004	D	0.83774	0.5327	M	0.69523	2.12	0.80722	D	1	D	0.65815	0.995	D	0.63877	0.919	T	0.80863	-0.1192	10	0.02654	T	1	.	17.3403	0.87293	0.0:0.0:1.0:0.0	.	1591	Q9NYQ6	CELR1_HUMAN	F	1591	ENSP00000262738:S1591F	ENSP00000262738:S1591F	S	-	2	0	CELSR1	45185120	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	9.121000	0.94375	2.178000	0.69098	0.655000	0.94253	TCC		0.642	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		32	26	0	0	0	0	32	26				
CNTN6	27255	broad.mit.edu	37	3	1444056	1444056	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:1444056A>G	ENST00000446702.2	+	22	3499	c.2872A>G	c.(2872-2874)Aca>Gca	p.T958A	CNTN6_ENST00000350110.2_Missense_Mutation_p.T958A|CNTN6_ENST00000539053.1_Missense_Mutation_p.T886A			Q9UQ52	CNTN6_HUMAN	contactin 6	958	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AACAAACAATACATCAGCTGA	0.368																																						uc003boz.2		NA																	0				skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(2872-2874)ACA>GCA		contactin 6 precursor							103.0	105.0	104.0					3																	1444056		2203	4299	6502	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1444056A>G	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2872A>G	3.37:g.1444056A>G	ENSP00000407822:p.Thr958Ala					CNTN6_uc011asj.1_Missense_Mutation_p.T886A|CNTN6_uc003bpa.2_Missense_Mutation_p.T958A	p.T958A	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	22	3139	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	958			Fibronectin type-III 4.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2872A>G	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587179	0.66105	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.50548	0.74;0.74;0.74	5.46	5.46	0.80206	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000011	T	0.68467	0.3004	M	0.81341	2.54	0.58432	D	0.999999	P	0.42973	0.796	P	0.59595	0.86	T	0.69506	-0.5127	10	0.44086	T	0.13	.	15.5466	0.76108	1.0:0.0:0.0:0.0	.	958	Q9UQ52	CNTN6_HUMAN	A	958;886;958	ENSP00000407822:T958A;ENSP00000442791:T886A;ENSP00000341882:T958A	ENSP00000341882:T958A	T	+	1	0	CNTN6	1419056	1.000000	0.71417	0.855000	0.33649	0.995000	0.86356	8.701000	0.91331	2.077000	0.62373	0.533000	0.62120	ACA		0.368	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		19	21	0	0	0	0	19	21				
ATP2B2	491	broad.mit.edu	37	3	10401651	10401651	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:10401651G>A	ENST00000352432.4	-	12	1885	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	ATP2B2_ENST00000383800.4_Missense_Mutation_p.R561C|ATP2B2_ENST00000397077.1_Missense_Mutation_p.R561C|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R592C|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R606C			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	606					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ATGGACTTGCGCACGGAGTTG	0.577																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1816-1818)CGC>TGC		plasma membrane calcium ATPase 2 isoform 1							105.0	86.0	92.0					3																	10401651		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10401651G>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1816C>T	3.37:g.10401651G>A	ENSP00000324172:p.Arg606Cys					ATP2B2_uc003bvv.2_Missense_Mutation_p.R561C|ATP2B2_uc003bvw.2_Missense_Mutation_p.R561C|ATP2B2_uc010hdo.2_Missense_Mutation_p.R311C	p.R606C	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			13	2255	-			606			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.1816C>T	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984389	0.74474	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	4.93	3.96	0.45880	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.90954	0.7156	H	0.99336	4.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.999;1.0	D	0.92652	0.6134	10	0.87932	D	0	-25.3853	10.1956	0.43051	0.0:0.0:0.5371:0.4628	.	541;573;606	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	C	606;561;561;606;592;541;462;606	ENSP00000324172:R606C;ENSP00000373311:R561C;ENSP00000380267:R561C;ENSP00000353414:R606C;ENSP00000344677:R592C;ENSP00000414854:R462C	ENSP00000342954:R606C	R	-	1	0	ATP2B2	10376651	0.864000	0.29904	1.000000	0.80357	0.998000	0.95712	0.990000	0.29642	2.272000	0.75746	0.591000	0.81541	CGC		0.577	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		53	42	0	0	0	0	53	42				
KLHL40	131377	broad.mit.edu	37	3	42727527	42727527	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:42727527C>T	ENST00000287777.4	+	1	517	c.417C>T	c.(415-417)ctC>ctT	p.L139L		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	139	BACK.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											TCTTCCGTCTCGGCCTCCTGC	0.652																																						uc003clv.1		NA																	0				ovary(1)	1						c.(415-417)CTC>CTT		kelch repeat and BTB (POZ) domain containing 5							94.0	98.0	97.0					3																	42727527		2201	4292	6493	SO:0001819	synonymous_variant	131377							g.chr3:42727527C>T	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.417C>T	3.37:g.42727527C>T							p.L139L	NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	1	517	+			139			BACK.		Q86SI1|Q96MR2	Silent	SNP	ENST00000287777.4	37	c.417C>T	CCDS2703.1																																																																																				0.652	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		52	50	0	0	0	0	52	50				
IMPG2	50939	broad.mit.edu	37	3	100963144	100963144	+	Silent	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:100963144T>C	ENST00000193391.7	-	13	2218	c.2031A>G	c.(2029-2031)ccA>ccG	p.P677P		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	677					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GCTCTTCCTCTGGAAAGTGTG	0.443																																						uc003duq.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(2029-2031)CCA>CCG		interphotoreceptor matrix proteoglycan 2							101.0	96.0	98.0					3																	100963144		2203	4300	6503	SO:0001819	synonymous_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100963144T>C	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2031A>G	3.37:g.100963144T>C						IMPG2_uc011bhe.1_Silent_p.P540P	p.P677P	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			13	2234	-			677			Extracellular (Potential).		A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	c.2031A>G	CCDS2940.1																																																																																				0.443	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			3	43	0	0	0	0	3	43				
GRAMD1C	54762	broad.mit.edu	37	3	113634611	113634611	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:113634611C>T	ENST00000358160.4	+	10	1508	c.1016C>T	c.(1015-1017)gCt>gTt	p.A339V	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.A172V|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.A68V|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.A134V	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	339						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						CATATCAGTGCTGACAGAATG	0.338																																						uc003eaq.3		NA																	0				ovary(2)|skin(1)	3						c.(1015-1017)GCT>GTT		GRAM domain containing 1C							105.0	103.0	103.0					3																	113634611		2202	4297	6499	SO:0001583	missense	54762					integral to membrane		g.chr3:113634611C>T		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1016C>T	3.37:g.113634611C>T	ENSP00000350881:p.Ala339Val					GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA|GRAMD1C_uc003ear.2_Missense_Mutation_p.A172V|GRAMD1C_uc003eas.2_Missense_Mutation_p.A134V|GRAMD1C_uc003eat.2_5'UTR	p.A339V	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN			10	1092	+			339					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.1016C>T	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129951	0.37630	.	.	ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000462838;ENST00000440446	T;T;T;T	0.37915	1.8;1.17;1.18;1.23	5.98	5.1	0.69264	.	0.049925	0.85682	D	0.000000	T	0.18964	0.0455	N	0.16098	0.37	0.45318	D	0.998311	B;B	0.30068	0.267;0.025	B;B	0.31245	0.126;0.008	T	0.06075	-1.0847	10	0.02654	T	1	.	11.7687	0.51945	0.0:0.9184:0.0:0.0816	.	172;339	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	V	339;68;172;134;134	ENSP00000350881:A339V;ENSP00000399844:A68V;ENSP00000419132:A172V;ENSP00000408135:A134V	ENSP00000350881:A339V	A	+	2	0	GRAMD1C	115117301	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.902000	0.56310	2.838000	0.97847	0.655000	0.94253	GCT		0.338	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577		11	40	0	0	0	0	11	40				
DRD3	1814	broad.mit.edu	37	3	113866346	113866346	+	Missense_Mutation	SNP	G	G	A	rs141573183		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:113866346G>A	ENST00000460779.1	-	5	731	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	DRD3_ENST00000295881.7_Missense_Mutation_p.R148W|DRD3_ENST00000467632.1_Missense_Mutation_p.R148W|DRD3_ENST00000383673.2_Missense_Mutation_p.R148W	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	148					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCCACGCGCCGACAGGAGCTC	0.562																																						uc003ebd.2		NA																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(442-444)CGG>TGG		dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	118.0	101.0	107.0		442,442	3.6	0.8	3	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DRD3	NM_000796.3,NM_033663.3	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	148/401,148/368	113866346	1,13005	2203	4300	6503	SO:0001583	missense	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113866346G>A		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.442C>T	3.37:g.113866346G>A	ENSP00000419402:p.Arg148Trp					DRD3_uc010hqn.1_Missense_Mutation_p.R148W|DRD3_uc003ebb.1_Missense_Mutation_p.R148W|DRD3_uc003ebc.1_Missense_Mutation_p.R148W	p.R148W	NM_000796	NP_000787	P35462	DRD3_HUMAN			5	865	-			148			Cytoplasmic.		A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.442C>T	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876122	0.72180	0.0	1.16E-4	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.46	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.055575	0.64402	D	0.000001	T	0.69788	0.3150	M	0.90595	3.13	0.47511	D	0.999445	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.996;0.998;0.993	T	0.77067	-0.2725	10	0.87932	D	0	.	14.4206	0.67180	0.0:0.0:0.602:0.398	.	148;148;148;148	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	W	148	ENSP00000419402:R148W;ENSP00000420662:R148W;ENSP00000373169:R148W;ENSP00000295881:R148W	ENSP00000281274:R148W	R	-	1	2	DRD3	115349036	0.987000	0.35691	0.821000	0.32701	0.917000	0.54804	2.111000	0.41883	0.796000	0.33947	0.655000	0.94253	CGG		0.562	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		4	69	0	0	0	0	4	69				
PCCB	5096	broad.mit.edu	37	3	135969356	135969356	+	Silent	SNP	C	C	T	rs199935380		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:135969356C>T	ENST00000251654.4	+	1	209	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L	PCCB_ENST00000466072.1_Silent_p.L47L|PCCB_ENST00000490504.1_Silent_p.L47L|PCCB_ENST00000483687.1_Silent_p.L47L|PCCB_ENST00000462637.1_Silent_p.L47L|PCCB_ENST00000469217.1_Silent_p.L47L|PCCB_ENST00000468777.1_Silent_p.L47L|PCCB_ENST00000478469.1_Silent_p.L47L|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000471595.1_Silent_p.L47L|PCCB_ENST00000482086.1_Intron	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	47	Carboxyltransferase.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	CCGGACCGCGCTGCTGGGAGG	0.667											OREG0015823	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003eqy.1		NA																	0					0						c.(139-141)CTG>TTG		propionyl Coenzyme A carboxylase, beta	Biotin(DB00121)|L-Valine(DB00161)						16.0	17.0	17.0					3																	135969356		2190	4288	6478	SO:0001819	synonymous_variant	5096				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	g.chr3:135969356C>T		CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.139C>T	3.37:g.135969356C>T			OREG0015823	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1622	PCCB_uc003eqz.1_Silent_p.L47L|PCCB_uc011bmc.1_Silent_p.L47L	p.L47L	NM_000532	NP_000523	P05166	PCCB_HUMAN			1	190	+			47			Carboxyltransferase.		B7Z2Z4|Q16813|Q96CX0	Silent	SNP	ENST00000251654.4	37	c.139C>T	CCDS3089.1																																																																																				0.667	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1			9	16	0	0	0	0	9	16				
TRIM42	287015	broad.mit.edu	37	3	140409849	140409849	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:140409849G>A	ENST00000286349.3	+	4	2091	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	634	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GGACTCTTTTGAGATGGAATT	0.418																																						uc003eto.1		NA																	0				lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(1900-1902)GAG>AAG		tripartite motif-containing 42							141.0	130.0	134.0					3																	140409849		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140409849G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1900G>A	3.37:g.140409849G>A	ENSP00000286349:p.Glu634Lys						p.E634K	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			4	2091	+			634			Fibronectin type-III.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.1900G>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845751	0.91197	.	.	ENSG00000155890	ENST00000286349	T	0.58210	0.35	5.82	5.82	0.92795	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.60405	0.2266	N	0.24115	0.695	0.38867	D	0.956609	D	0.69078	0.997	D	0.80764	0.994	T	0.65586	-0.6132	10	0.87932	D	0	-8.8584	15.6013	0.76628	0.0:0.0:1.0:0.0	.	634	Q8IWZ5	TRI42_HUMAN	K	634	ENSP00000286349:E634K	ENSP00000286349:E634K	E	+	1	0	TRIM42	141892539	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.484000	0.60271	2.754000	0.94517	0.650000	0.86243	GAG		0.418	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		19	78	0	0	0	0	19	78				
SLC7A14	57709	broad.mit.edu	37	3	170185021	170185021	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr3:170185021T>C	ENST00000231706.5	-	8	2453	c.2138A>G	c.(2137-2139)gAg>gGg	p.E713G	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	713					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCTCTCGCCCTCTGTGGCGTA	0.572																																						uc003fgz.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(2137-2139)GAG>GGG		solute carrier family 7 (cationic amino acid							71.0	72.0	71.0					3																	170185021		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170185021T>C	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.2138A>G	3.37:g.170185021T>C	ENSP00000231706:p.Glu713Gly					CLDN11_uc011bpt.1_Intron|uc003fha.1_5'Flank	p.E713G	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		8	2454	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		713					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.2138A>G	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.144796	0.57044	.	.	ENSG00000013293	ENST00000231706	D	0.87966	-2.32	5.76	5.76	0.90799	.	0.478052	0.22640	N	0.057470	T	0.78521	0.4296	N	0.14661	0.345	0.46954	D	0.999265	B	0.02656	0.0	B	0.01281	0.0	T	0.72606	-0.4242	10	0.33141	T	0.24	.	16.0659	0.80870	0.0:0.0:0.0:1.0	.	713	Q8TBB6	S7A14_HUMAN	G	713	ENSP00000231706:E713G	ENSP00000231706:E713G	E	-	2	0	SLC7A14	171667715	1.000000	0.71417	0.982000	0.44146	0.977000	0.68977	5.265000	0.65519	2.209000	0.71365	0.533000	0.62120	GAG		0.572	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		24	48	0	0	0	0	24	48				
CC2D2A	57545	broad.mit.edu	37	4	15556795	15556795	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:15556795A>G	ENST00000503292.1	+	21	2767	c.2587A>G	c.(2587-2589)Aat>Gat	p.N863D	CC2D2A_ENST00000413206.1_Missense_Mutation_p.N863D|CC2D2A_ENST00000424120.1_Missense_Mutation_p.N863D|CC2D2A_ENST00000389652.5_Missense_Mutation_p.N814D	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	863					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GCTCGACCCAAATGACCCCAA	0.463																																						uc010idv.2		NA																	0				pancreas(2)|ovary(1)	3						c.(2587-2589)AAT>GAT		coiled-coil and C2 domain containing 2A isoform							116.0	123.0	121.0					4																	15556795		1995	4177	6172	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15556795A>G	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.2587A>G	4.37:g.15556795A>G	ENSP00000421809:p.Asn863Asp					CC2D2A_uc003gnx.2_Missense_Mutation_p.N814D|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	p.N863D	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN			21	2832	+			863					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.2587A>G	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.948925	0.92660	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	5.54	5.54	0.83059	.	0.101970	0.64402	D	0.000004	T	0.80204	0.4580	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82739	-0.0308	10	0.62326	D	0.03	.	15.6705	0.77270	1.0:0.0:0.0:0.0	.	863;814	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	D	863;863;814;814;863;814	ENSP00000403465:N863D;ENSP00000398391:N863D;ENSP00000421809:N863D;ENSP00000374303:N814D	ENSP00000374303:N814D	N	+	1	0	CC2D2A	15165893	1.000000	0.71417	0.537000	0.28052	0.992000	0.81027	9.064000	0.93933	2.115000	0.64714	0.533000	0.62120	AAT		0.463	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		10	27	0	0	0	0	10	27				
LPHN3	23284	broad.mit.edu	37	4	62758534	62758534	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:62758534C>G	ENST00000514591.1	+	9	1766	c.1437C>G	c.(1435-1437)gaC>gaG	p.D479E	LPHN3_ENST00000507625.1_Missense_Mutation_p.D547E|LPHN3_ENST00000508946.1_Missense_Mutation_p.D479E|LPHN3_ENST00000507164.1_Missense_Mutation_p.D547E|LPHN3_ENST00000506746.1_Missense_Mutation_p.D547E|LPHN3_ENST00000514996.1_Missense_Mutation_p.D479E|LPHN3_ENST00000514157.1_Missense_Mutation_p.D479E|LPHN3_ENST00000506700.1_Missense_Mutation_p.D479E|LPHN3_ENST00000512091.2_Missense_Mutation_p.D479E|LPHN3_ENST00000504896.1_Missense_Mutation_p.D479E|LPHN3_ENST00000508693.1_Missense_Mutation_p.D547E|LPHN3_ENST00000511324.1_Missense_Mutation_p.D547E|LPHN3_ENST00000506720.1_Missense_Mutation_p.D547E|LPHN3_ENST00000509896.1_Missense_Mutation_p.D547E|LPHN3_ENST00000545650.1_Missense_Mutation_p.D479E			Q9HAR2	LPHN3_HUMAN	latrophilin 3	479					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						TACTTGATGACATGACCACAC	0.527																																						uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(1435-1437)GAC>GAG		latrophilin 3 precursor							126.0	117.0	120.0					4																	62758534		2017	4173	6190	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62758534C>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.1437C>G	4.37:g.62758534C>G	ENSP00000422533:p.Asp479Glu					LPHN3_uc003hcq.3_Missense_Mutation_p.D479E|LPHN3_uc003hcs.1_Missense_Mutation_p.D308E	p.D479E	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			7	1610	+			479			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1437C>G	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506013	0.26949	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.74	2.78	0.32641	.	0.202437	0.42964	D	0.000623	T	0.27731	0.0682	N	0.19112	0.55	0.28859	N	0.895633	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.06716	-1.0811	10	0.17832	T	0.49	.	1.4921	0.02459	0.2568:0.4404:0.1251:0.1777	.	479;479	E9PE04;Q9HAR2-2	.;.	E	479;479;547;547;479;479;479;479;479;547;547;547;479;479;479;547;547;479	ENSP00000423388:D479E;ENSP00000422533:D479E;ENSP00000423787:D547E;ENSP00000425033:D547E;ENSP00000424120:D479E;ENSP00000439831:D479E;ENSP00000421476:D547E;ENSP00000424030:D547E;ENSP00000421372:D547E;ENSP00000425201:D479E;ENSP00000423434:D479E;ENSP00000421627:D479E;ENSP00000420931:D547E;ENSP00000425884:D547E;ENSP00000424258:D479E	ENSP00000280009:D479E	D	+	3	2	LPHN3	62441129	0.218000	0.23608	0.961000	0.40146	0.970000	0.65996	-0.204000	0.09425	0.769000	0.33313	0.563000	0.77884	GAC		0.527	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			9	42	0	0	0	0	9	42				
SEC31A	22872	broad.mit.edu	37	4	83748592	83748592	+	Missense_Mutation	SNP	C	C	G	rs368504379		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:83748592C>G	ENST00000395310.2	-	24	3403	c.3221G>C	c.(3220-3222)gGc>gCc	p.G1074A	SEC31A_ENST00000264405.5_Missense_Mutation_p.G823A|SEC31A_ENST00000509142.1_Missense_Mutation_p.G960A|SEC31A_ENST00000500777.2_Missense_Mutation_p.G921A|SEC31A_ENST00000355196.2_Missense_Mutation_p.G1074A|SEC31A_ENST00000505984.1_Missense_Mutation_p.G1020A|SEC31A_ENST00000311785.7_Missense_Mutation_p.G960A|SEC31A_ENST00000348405.4_Missense_Mutation_p.G1035A|SEC31A_ENST00000505472.1_Missense_Mutation_p.G1105A|SEC31A_ENST00000432794.1_Missense_Mutation_p.G1087A|SEC31A_ENST00000326950.5_Missense_Mutation_p.G1035A|SEC31A_ENST00000513858.1_Missense_Mutation_p.G921A|SEC31A_ENST00000443462.2_Missense_Mutation_p.G1054A|SEC31A_ENST00000508502.1_Missense_Mutation_p.G1059A|SEC31A_ENST00000448323.1_Missense_Mutation_p.G1074A	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1074	Interaction with PDCD6.|Pro-rich.				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)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TGGTGGCATGCCTGTTTGACC	0.502																																						uc003hnf.2		NA																SEC31A/JAK2(4)|SEC31A/ALK(3)	0				haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8						c.(3220-3222)GGC>GCC		SEC31 homolog A isoform 1							185.0	177.0	180.0					4																	83748592		2203	4300	6503	SO:0001583	missense	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83748592C>G	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3221G>C	4.37:g.83748592C>G	ENSP00000378721:p.Gly1074Ala					SEC31A_uc003hnd.2_Missense_Mutation_p.G243A|SEC31A_uc003hne.2_Missense_Mutation_p.G823A|SEC31A_uc011ccl.1_Missense_Mutation_p.G1020A|SEC31A_uc003hnl.2_Missense_Mutation_p.G921A|SEC31A_uc003hng.2_Missense_Mutation_p.G1059A|SEC31A_uc003hnh.2_Missense_Mutation_p.G1074A|SEC31A_uc003hni.2_Missense_Mutation_p.G960A|SEC31A_uc003hnj.2_Missense_Mutation_p.G1035A|SEC31A_uc011ccm.1_Missense_Mutation_p.G1054A|SEC31A_uc011ccn.1_Missense_Mutation_p.G1059A|SEC31A_uc003hnk.2_Missense_Mutation_p.G1035A|SEC31A_uc003hnm.2_Missense_Mutation_p.G1074A	p.G1074A	NM_001077207	NP_001070675	O94979	SC31A_HUMAN			24	3385	-		Hepatocellular(203;0.114)	1074			Interaction with PDCD6.|Pro-rich.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.3221G>C	CCDS3596.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	0.854|0.854|0.854	-0.737435|-0.737435|-0.737435	0.03111|0.03111|0.03111	.|.|.	.|.|.	ENSG00000138674|ENSG00000138674|ENSG00000138674	ENST00000503937|ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984|ENST00000515062;ENST00000511338	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	.|0.37235|.	.|1.4;1.21;2.48;2.53;1.31;2.37;2.48;1.4;1.31;1.24;1.21;2.55;2.48;3.25;2.47|.	5.63|5.63|5.63	3.83|3.83|3.83	0.44106|0.44106|0.44106	.|.|.	.|0.309163|.	.|0.35870|.	.|N|.	.|0.002931|.	T|T|T	0.16514|0.16514|0.16514	0.0397|0.0397|0.0397	N|N|N	0.03115|0.03115|0.03115	-0.41|-0.41|-0.41	0.21445|0.21445|0.21445	N|N|N	0.999686|0.999686|0.999686	.|B;B;B;B;B;B;B;B;B|.	.|0.06786|.	.|0.0;0.0;0.0;0.0;0.0;0.001;0.0;0.001;0.0|.	.|B;B;B;B;B;B;B;B;B|.	.|0.12156|.	.|0.002;0.001;0.001;0.001;0.001;0.003;0.001;0.007;0.004|.	T|T|T	0.10567|0.10567|0.10567	-1.0624|-1.0624|-1.0624	5|10|5	.|0.02654|.	.|T|.	.|1|.	-4.9659|-4.9659|-4.9659	9.184|9.184|9.184	0.37158|0.37158|0.37158	0.2556:0.5369:0.2075:0.0|0.2556:0.5369:0.2075:0.0|0.2556:0.5369:0.2075:0.0	.|.|.	.|1054;1020;921;1035;960;1059;1074;823;1087|.	.|B4DIW6;B7ZL00;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7;O94979-8|.	.|.;.;.;.;.;.;SC31A_HUMAN;.;.|.	P|A|S	237|1035;921;1074;1054;960;1087;1074;1035;960;1105;921;1059;1074;823;1020|58;170	.|ENSP00000337602:G1035A;ENSP00000426886:G921A;ENSP00000378721:G1074A;ENSP00000408027:G1054A;ENSP00000426569:G960A;ENSP00000407944:G1087A;ENSP00000400926:G1074A;ENSP00000325087:G1035A;ENSP00000309070:G960A;ENSP00000421633:G1105A;ENSP00000421464:G921A;ENSP00000424635:G1059A;ENSP00000347329:G1074A;ENSP00000264405:G823A;ENSP00000424451:G1020A|.	.|ENSP00000264405:G823A|.	A|G|R	-|-|-	1|2|3	0|0|2	SEC31A|SEC31A|SEC31A	83967616|83967616|83967616	0.092000|0.092000|0.092000	0.21681|0.21681|0.21681	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.047000|0.047000|0.047000	0.14425|0.14425|0.14425	0.547000|0.547000|0.547000	0.23299|0.23299|0.23299	2.657000|2.657000|2.657000	0.90304|0.90304|0.90304	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GCA|GGC|AGG		0.502	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		30	147	0	0	0	0	30	147				
MMRN1	22915	broad.mit.edu	37	4	90856493	90856493	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:90856493G>T	ENST00000394980.1	+	7	1981	c.1662G>T	c.(1660-1662)aaG>aaT	p.K554N	MMRN1_ENST00000508372.1_Missense_Mutation_p.K296N|MMRN1_ENST00000264790.2_Missense_Mutation_p.K554N|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	554					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AAAATATAAAGAAGCAGAGTT	0.383																																						uc003hst.2		NA																	0				ovary(4)	4						c.(1660-1662)AAG>AAT		multimerin 1							73.0	75.0	74.0					4																	90856493		2203	4299	6502	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90856493G>T	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.1662G>T	4.37:g.90856493G>T	ENSP00000378431:p.Lys554Asn					MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.K296N	p.K554N	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	1733	+		Hepatocellular(203;0.114)	554					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.1662G>T	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	6.218	0.408357	0.11754	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.70282	-0.12;-0.12;-0.47	5.12	4.27	0.50696	.	0.399186	0.25341	N	0.031371	T	0.65375	0.2685	M	0.64997	1.995	0.80722	D	1	B	0.21905	0.062	B	0.20184	0.028	T	0.64262	-0.6449	10	0.49607	T	0.09	.	8.9381	0.35713	0.1291:0.1669:0.7039:0.0	.	554	Q13201	MMRN1_HUMAN	N	554;554;296	ENSP00000378431:K554N;ENSP00000264790:K554N;ENSP00000426461:K296N	ENSP00000264790:K554N	K	+	3	2	MMRN1	91075516	1.000000	0.71417	0.902000	0.35471	0.084000	0.17831	1.535000	0.36061	1.464000	0.47987	0.591000	0.81541	AAG		0.383	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		10	59	1	0	5.51e-06	6.19e-06	10	59				
SGMS2	166929	broad.mit.edu	37	4	108831579	108831579	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:108831579A>T	ENST00000394684.4	+	7	1525	c.968A>T	c.(967-969)aAa>aTa	p.K323I	SGMS2_ENST00000394686.3_Missense_Mutation_p.K323I|RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000359079.4_Missense_Mutation_p.K323I|RP11-286E11.1_ENST00000499098.1_RNA	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	323					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		TTTTTTGAGAAAAATGTACAA	0.398																																						uc003hyl.3		NA																	0		p.K323N(1)		lung(1)	1						c.(967-969)AAA>ATA		sphingomyelin synthase 2	Choline(DB00122)						73.0	77.0	76.0					4																	108831579		2203	4300	6503	SO:0001583	missense	166929				sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr4:108831579A>T	BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.968A>T	4.37:g.108831579A>T	ENSP00000378176:p.Lys323Ile					uc003hym.1_Intron|SGMS2_uc003hyn.2_Missense_Mutation_p.K323I|SGMS2_uc003hyo.2_Missense_Mutation_p.K323I	p.K323I	NM_001136258	NP_001129730	Q8NHU3	SMS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	7	1523	+			323			Cytoplasmic (Potential).		A8K2S9|B2RA61	Missense_Mutation	SNP	ENST00000394684.4	37	c.968A>T	CCDS3677.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178764	0.78564	.	.	ENSG00000164023	ENST00000394684;ENST00000359079;ENST00000394686	T;T;T	0.48201	0.82;0.82;0.82	6.07	6.07	0.98685	.	0.082586	0.85682	D	0.000000	T	0.55893	0.1949	L	0.47190	1.495	0.48511	D	0.999667	D	0.56968	0.978	P	0.54664	0.758	T	0.51426	-0.8707	10	0.34782	T	0.22	-12.4812	16.6406	0.85098	1.0:0.0:0.0:0.0	.	323	Q8NHU3	SMS2_HUMAN	I	323	ENSP00000378176:K323I;ENSP00000351981:K323I;ENSP00000378178:K323I	ENSP00000351981:K323I	K	+	2	0	SGMS2	109051028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.351000	0.52232	2.326000	0.78906	0.533000	0.62120	AAA		0.398	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1	NM_152621		29	30	0	0	0	0	29	30				
NDST4	64579	broad.mit.edu	37	4	115998155	115998155	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:115998155G>T	ENST00000264363.2	-	2	716	c.38C>A	c.(37-39)aCa>aAa	p.T13K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	13					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AACAATCAATGTTCGAAAACT	0.348																																						uc003ibu.2		NA																	0				skin(3)|ovary(1)	4						c.(37-39)ACA>AAA		heparan sulfate N-deacetylase/N-sulfotransferase							28.0	29.0	28.0					4																	115998155		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115998155G>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.38C>A	4.37:g.115998155G>T	ENSP00000264363:p.Thr13Lys					NDST4_uc010imw.2_Intron	p.T13K	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	717	-		Ovarian(17;0.156)	13			Cytoplasmic (Potential).		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.38C>A	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253756	0.22965	.	.	ENSG00000138653	ENST00000264363	T	0.35236	1.32	5.12	5.12	0.69794	.	0.181326	0.51477	D	0.000098	T	0.31857	0.0810	L	0.34521	1.04	0.50039	D	0.999842	B	0.22683	0.073	B	0.23018	0.043	T	0.05194	-1.0900	10	0.33141	T	0.24	.	18.5612	0.91101	0.0:0.0:1.0:0.0	.	13	Q9H3R1	NDST4_HUMAN	K	13	ENSP00000264363:T13K	ENSP00000264363:T13K	T	-	2	0	NDST4	116217604	0.995000	0.38212	0.933000	0.37362	0.992000	0.81027	2.421000	0.44688	2.377000	0.81083	0.411000	0.27672	ACA		0.348	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		4	20	1	0	0.00909568	0.00930835	4	20				
PCDH10	57575	broad.mit.edu	37	4	134073285	134073285	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:134073285G>T	ENST00000264360.5	+	1	2816	c.1990G>T	c.(1990-1992)Ggg>Tgg	p.G664W		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	664	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(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)		GCGCGACCATGGGCAGCCGCC	0.731																																						uc003iha.2		NA																	0				ovary(2)	2						c.(1990-1992)GGG>TGG		protocadherin 10 isoform 1 precursor							17.0	21.0	19.0					4																	134073285		2191	4288	6479	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073285G>T	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.1990G>T	4.37:g.134073285G>T	ENSP00000264360:p.Gly664Trp					PCDH10_uc003igz.2_Missense_Mutation_p.G664W	p.G664W	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2816	+			664			Cadherin 6.|Extracellular (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1990G>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064723	0.76187	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.51071	0.72	4.47	4.47	0.54385	Cadherin (4);Cadherin-like (1);	0.000000	0.44097	D	0.000488	T	0.80014	0.4546	H	0.97516	4.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87963	0.2731	10	0.87932	D	0	.	16.9329	0.86195	0.0:0.0:1.0:0.0	.	664;664	Q9P2E7;Q96SF0	PCD10_HUMAN;.	W	664	ENSP00000264360:G664W	ENSP00000264360:G664W	G	+	1	0	PCDH10	134292735	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.416000	0.97383	2.310000	0.77875	0.655000	0.94253	GGG		0.731	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		5	35	1	0	0.000602214	0.000635733	5	35				
MAB21L2	10586	broad.mit.edu	37	4	151504953	151504953	+	Silent	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:151504953C>A	ENST00000317605.4	+	1	1877	c.772C>A	c.(772-774)Cgg>Agg	p.R258R	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000535741.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	258					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GAAGACTCTGCGGGACCGCCA	0.627																																						uc003ilw.2		NA																	0				ovary(1)	1						c.(772-774)CGG>AGG		mab-21-like protein 2							43.0	45.0	44.0					4																	151504953		2203	4300	6503	SO:0001819	synonymous_variant	10586				nervous system development	nucleus		g.chr4:151504953C>A	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.772C>A	4.37:g.151504953C>A						LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	p.R258R	NM_006439	NP_006430	Q9Y586	MB212_HUMAN		GBM - Glioblastoma multiforme(119;0.159)	1	1877	+	all_hematologic(180;0.151)		258					B3KP37|Q9HBA7	Silent	SNP	ENST00000317605.4	37	c.772C>A	CCDS3774.1																																																																																				0.627	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		31	23	1	0	2.44e-19	3.24e-19	31	23				
GLRB	2743	broad.mit.edu	37	4	158060002	158060002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:158060002G>T	ENST00000264428.4	+	7	922	c.652G>T	c.(652-654)Gga>Tga	p.G218*	GLRB_ENST00000541722.1_Nonsense_Mutation_p.G218*|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Nonsense_Mutation_p.G218*	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	218					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	CTGGCAGTCAGGAGATCCTGT	0.284																																						uc003ipj.2		NA																	0				skin(2)	2						c.(652-654)GGA>TGA		glycine receptor, beta isoform A precursor	Glycine(DB00145)						78.0	84.0	82.0					4																	158060002		2203	4295	6498	SO:0001587	stop_gained	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158060002G>T	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.652G>T	4.37:g.158060002G>T	ENSP00000264428:p.Gly218*						p.G218*	NM_000824	NP_000815	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	7	854	+	all_hematologic(180;0.24)	Renal(120;0.0458)	218			Extracellular (Probable).		A8K3K2|D3DP23|F5GWE1	Nonsense_Mutation	SNP	ENST00000264428.4	37	c.652G>T	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	G	38	7.100187	0.98063	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	.	.	.	5.5	5.5	0.81552	.	0.108661	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.3898	0.94576	0.0:0.0:1.0:0.0	.	.	.	.	X	218	.	ENSP00000264428:G218X	G	+	1	0	GLRB	158279452	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.769000	0.98969	2.586000	0.87340	0.650000	0.86243	GGA		0.284	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824		12	70	1	0	2.62e-11	3.29e-11	12	70				
KLHL2	11275	broad.mit.edu	37	4	166232680	166232680	+	Silent	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr4:166232680T>C	ENST00000226725.6	+	11	1561	c.1302T>C	c.(1300-1302)aaT>aaC	p.N434N	KLHL2_ENST00000421009.2_Silent_p.N337N|KLHL2_ENST00000538127.1_Silent_p.N346N|KLHL2_ENST00000514860.1_Silent_p.N438N|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000506761.1_Silent_p.N268N	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	434					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		CTCCCATGAATACAAGGAGGA	0.418																																						uc003irb.2		NA																	0					0						c.(1300-1302)AAT>AAC		kelch-like 2, Mayven isoform 1							416.0	355.0	376.0					4																	166232680		2203	4300	6503	SO:0001819	synonymous_variant	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166232680T>C	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1302T>C	4.37:g.166232680T>C						KLHL2_uc011cjm.1_Silent_p.N438N|KLHL2_uc003irc.2_Silent_p.N346N|KLHL2_uc010ira.2_Silent_p.N87N	p.N434N	NM_007246	NP_009177	O95198	KLHL2_HUMAN		GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)	11	1561	+	all_hematologic(180;0.221)		434			Kelch 3.		A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Silent	SNP	ENST00000226725.6	37	c.1302T>C	CCDS34094.1																																																																																				0.418	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1			29	155	0	0	0	0	29	155				
SEMA5A	9037	broad.mit.edu	37	5	9136622	9136622	+	Silent	SNP	C	C	A	rs201206342		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:9136622C>A	ENST00000382496.5	-	13	2258	c.1593G>T	c.(1591-1593)gcG>gcT	p.A531A		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	531					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCACCGGACACGCAGAGATGC	0.587																																						uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1591-1593)GCG>GCT		semaphorin 5A precursor							98.0	76.0	84.0					5																	9136622		2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9136622C>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1593G>T	5.37:g.9136622C>A							p.A531A	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			13	2305	-			531			Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.1593G>T	CCDS3875.1																																																																																				0.587	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			4	27	1	0	0.00024832	0.000266091	4	27				
SEMA5A	9037	broad.mit.edu	37	5	9190523	9190523	+	Missense_Mutation	SNP	G	G	C	rs147170997		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:9190523G>C	ENST00000382496.5	-	11	1794	c.1129C>G	c.(1129-1131)Cag>Gag	p.Q377E		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	377	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATGAACTTCTGAGCATCCTGC	0.577																																						uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1129-1131)CAG>GAG		semaphorin 5A precursor		G	GLU/GLN	1,4405	2.1+/-5.4	0,1,2202	133.0	106.0	115.0		1129	5.6	1.0	5	dbSNP_134	115	0,8600		0,0,4300	no	missense	SEMA5A	NM_003966.2	29	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging	377/1075	9190523	1,13005	2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9190523G>C	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1129C>G	5.37:g.9190523G>C	ENSP00000371936:p.Gln377Glu						p.Q377E	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			11	1841	-			377			Sema.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.1129C>G	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725128	0.89298	2.27E-4	0.0	ENSG00000112902	ENST00000382496	T	0.20463	2.07	5.61	5.61	0.85477	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.054264	0.85682	N	0.000000	T	0.38054	0.1026	L	0.37750	1.13	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.04708	-1.0932	10	0.54805	T	0.06	.	17.1311	0.86726	0.0:0.0:1.0:0.0	.	377	Q13591	SEM5A_HUMAN	E	377	ENSP00000371936:Q377E	ENSP00000371936:Q377E	Q	-	1	0	SEMA5A	9243523	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.647000	0.98478	2.636000	0.89361	0.655000	0.94253	CAG		0.577	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			23	33	0	0	0	0	23	33				
HTR1A	3350	broad.mit.edu	37	5	63256581	63256581	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:63256581C>T	ENST00000323865.3	-	1	1199	c.966G>A	c.(964-966)gaG>gaA	p.E322E	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	322					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CATTTTTCCTCTCGAAAGAGG	0.617																																						uc011cqt.1		NA																	0				ovary(2)|pancreas(2)	4						c.(964-966)GAG>GAA		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						55.0	59.0	58.0					5																	63256581		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256581C>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.966G>A	5.37:g.63256581C>T							p.E322E	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	966	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	322			Cytoplasmic (By similarity).		Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.966G>A	CCDS34168.1																																																																																				0.617	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		7	55	0	0	0	0	7	55				
IQGAP2	10788	broad.mit.edu	37	5	75954373	75954373	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:75954373G>T	ENST00000274364.6	+	21	2707	c.2410G>T	c.(2410-2412)Gtt>Ttt	p.V804F	IQGAP2_ENST00000379730.3_Missense_Mutation_p.V306F|IQGAP2_ENST00000502745.1_Missense_Mutation_p.V300F|IQGAP2_ENST00000396234.3_Missense_Mutation_p.V300F	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	804					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GGAACTAGAGGTTGCACGATT	0.448																																						uc003kek.2		NA																	0				ovary(6)|central_nervous_system(1)	7						c.(2410-2412)GTT>TTT		IQ motif containing GTPase activating protein 2							121.0	113.0	116.0					5																	75954373		2203	4300	6503	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75954373G>T	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2410G>T	5.37:g.75954373G>T	ENSP00000274364:p.Val804Phe					IQGAP2_uc010izv.2_Missense_Mutation_p.V357F|IQGAP2_uc011csv.1_Missense_Mutation_p.V300F|IQGAP2_uc003kel.2_Missense_Mutation_p.V300F	p.V804F	NM_006633	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	21	2632	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	804					A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.2410G>T	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.588499	0.46110	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000514350;ENST00000505766;ENST00000514001;ENST00000396234;ENST00000545384;ENST00000502745	T;T;T;T;T;T;T	0.04551	4.26;4.13;3.67;4.25;3.6;4.13;4.13	6.06	4.19	0.49359	.	0.276437	0.34338	N	0.004059	T	0.04634	0.0126	L	0.37466	1.105	0.42538	D	0.993069	B;B;B;B	0.12013	0.005;0.003;0.005;0.001	B;B;B;B	0.20384	0.029;0.013;0.029;0.013	T	0.41963	-0.9479	10	0.19147	T	0.46	-27.3746	10.6821	0.45821	0.0697:0.0:0.7976:0.1328	.	306;754;300;804	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	F	804;306;777;754;357;300;357;300	ENSP00000274364:V804F;ENSP00000442313:V306F;ENSP00000423672:V777F;ENSP00000421097:V754F;ENSP00000422661:V357F;ENSP00000379535:V300F;ENSP00000426027:V300F	ENSP00000274364:V804F	V	+	1	0	IQGAP2	75990129	0.997000	0.39634	0.981000	0.43875	0.799000	0.45148	2.234000	0.43035	2.882000	0.98803	0.655000	0.94253	GTT		0.448	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		37	45	1	0	2.19e-23	2.98e-23	37	45				
TMEM167A	153339	broad.mit.edu	37	5	82357723	82357723	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:82357723C>T	ENST00000502346.1	-	3	293	c.121G>A	c.(121-123)Ggt>Agt	p.G41S	SCARNA18_ENST00000459004.1_RNA|TMEM167A_ENST00000511450.1_5'UTR	NM_174909.4	NP_777569.1	Q8TBQ9	KISHA_HUMAN	transmembrane protein 167A	41						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(1)	2						CAAAATATACCCAACAATCTG	0.303																																						uc003khx.3		NA																	0					0						c.(121-123)GGT>AGT		transmembrane protein 167A precursor							55.0	54.0	54.0					5																	82357723		2203	4298	6501	SO:0001583	missense	153339					Golgi membrane|integral to membrane		g.chr5:82357723C>T	BC107575, AK055070	CCDS34198.1	5q14.2	2008-06-06	2008-06-06	2008-06-06	ENSG00000174695	ENSG00000174695			28330	protein-coding gene	gene with protein product			"""transmembrane protein 167"""	TMEM167		1316117	Standard	NM_174909		Approved	FLJ30508, MGC23909	uc003khx.4	Q8TBQ9	OTTHUMG00000162570	ENST00000502346.1:c.121G>A	5.37:g.82357723C>T	ENSP00000424707:p.Gly41Ser						p.G41S	NM_174909	NP_777569	Q8TBQ9	KISHA_HUMAN			3	251	-			41			Extracellular (Potential).		Q0P692	Missense_Mutation	SNP	ENST00000502346.1	37	c.121G>A	CCDS34198.1	.	.	.	.	.	.	.	.	.	.	C	35	5.552778	0.96501	.	.	ENSG00000174695	ENST00000502346	.	.	.	6.06	6.06	0.98353	.	0.104534	0.64402	D	0.000004	T	0.78136	0.4236	.	.	.	0.80722	D	1	D	0.61080	0.989	P	0.59357	0.856	T	0.77752	-0.2470	8	0.56958	D	0.05	.	20.2194	0.98323	0.0:1.0:0.0:0.0	.	41	Q8TBQ9	KISHA_HUMAN	S	41	.	ENSP00000424707:G41S	G	-	1	0	TMEM167A	82393479	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.476000	0.73587	2.879000	0.98667	0.650000	0.86243	GGT		0.303	TMEM167A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369631.2	NM_174909		9	40	0	0	0	0	9	40				
BRD8	10902	broad.mit.edu	37	5	137476488	137476488	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:137476488A>G	ENST00000254900.5	-	26	3892	c.3521T>C	c.(3520-3522)cTg>cCg	p.L1174P	NME5_ENST00000265191.2_5'Flank	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1174	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTGGAACATCAGCATCAGGTC	0.483																																						uc003lcf.1		NA																	0				ovary(1)	1						c.(3520-3522)CTG>CCG		bromodomain containing 8 isoform 2							330.0	316.0	321.0					5																	137476488		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137476488A>G	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.3521T>C	5.37:g.137476488A>G	ENSP00000254900:p.Leu1174Pro					BRD8_uc003lcc.1_Intron|NME5_uc003lce.2_5'Flank	p.L1174P	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		26	3576	-			1174			Bromo 2.		O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.3521T>C	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.429005	0.83667	.	.	ENSG00000112983	ENST00000254900;ENST00000427976	T;T	0.32272	1.46;1.46	5.96	5.96	0.96718	Bromodomain (5);	0.000000	0.39210	N	0.001436	T	0.73001	0.3531	H	0.98980	4.39	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.84674	0.0713	10	0.87932	D	0	-4.5035	15.6296	0.76893	1.0:0.0:0.0:0.0	.	1174	Q9H0E9	BRD8_HUMAN	P	1174;280	ENSP00000254900:L1174P;ENSP00000392646:L280P	ENSP00000254900:L1174P	L	-	2	0	BRD8	137504387	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	9.339000	0.96797	2.285000	0.76669	0.533000	0.62120	CTG		0.483	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		60	255	0	0	0	0	60	255				
PCDHA8	56140	broad.mit.edu	37	5	140223207	140223207	+	Silent	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:140223207G>C	ENST00000531613.1	+	1	2301	c.2301G>C	c.(2299-2301)acG>acC	p.T767T	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.T767T|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	767					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGAAGACGGACCTCATGG	0.572																																						uc003lhs.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2299-2301)ACG>ACC		protocadherin alpha 8 isoform 1 precursor							60.0	60.0	60.0					5																	140223207		2196	4263	6459	SO:0001819	synonymous_variant	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140223207G>C	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.2301G>C	5.37:g.140223207G>C						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.T767T	p.T767T	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2301	+			767			Cytoplasmic (Potential).		B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.2301G>C	CCDS54919.1																																																																																				0.572	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		12	33	0	0	0	0	12	33				
PCDHB12	56124	broad.mit.edu	37	5	140588692	140588692	+	Missense_Mutation	SNP	C	C	A	rs145009914		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:140588692C>A	ENST00000239450.2	+	1	402	c.213C>A	c.(211-213)aaC>aaA	p.N71K	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	71	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAATGATAACAAAGAGTGTT	0.522																																						uc003liz.2		NA																	0				skin(2)|ovary(1)	3						c.(211-213)AAC>AAA		protocadherin beta 12 precursor		C	LYS/ASN	1,4405	2.1+/-5.4	0,1,2202	76.0	85.0	82.0		213	-0.2	0.0	5	dbSNP_134	82	0,8600		0,0,4300	no	missense	PCDHB12	NM_018932.3	94	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	benign	71/796	140588692	1,13005	2203	4300	6503	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140588692C>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.213C>A	5.37:g.140588692C>A	ENSP00000239450:p.Asn71Lys					PCDHB12_uc011dak.1_Intron	p.N71K	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	402	+			71			Extracellular (Potential).|Cadherin 1.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.213C>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	8.067	0.769339	0.15983	2.27E-4	0.0	ENSG00000120328	ENST00000239450	T	0.27256	1.68	4.25	-0.146	0.13432	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.14960	0.0361	L	0.35793	1.09	0.09310	N	0.999999	B	0.06786	0.001	B	0.19148	0.024	T	0.32745	-0.9895	9	0.24483	T	0.36	.	0.9347	0.01342	0.2652:0.3327:0.2171:0.185	.	71	Q9Y5F1	PCDBC_HUMAN	K	71	ENSP00000239450:N71K	ENSP00000239450:N71K	N	+	3	2	PCDHB12	140568876	0.000000	0.05858	0.027000	0.17364	0.835000	0.47333	-3.337000	0.00507	0.029000	0.15352	0.561000	0.74099	AAC		0.522	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		31	62	1	0	2.08e-15	2.72e-15	31	62				
WWC1	23286	broad.mit.edu	37	5	167855056	167855056	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:167855056G>T	ENST00000265293.4	+	12	2331	c.1829G>T	c.(1828-1830)gGg>gTg	p.G610V	WWC1_ENST00000521089.1_Missense_Mutation_p.G610V	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	610					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ACGGCCCAGGGGTGTGGCCTG	0.542																																						uc003lzu.2		NA																	0				ovary(2)|skin(2)|breast(1)	5						c.(1828-1830)GGG>GTG		WW and C2 domain containing 1 isoform 3							90.0	82.0	85.0					5																	167855056		2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167855056G>T	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1829G>T	5.37:g.167855056G>T	ENSP00000265293:p.Gly610Val					WWC1_uc003lzv.2_Missense_Mutation_p.G610V|WWC1_uc011den.1_Missense_Mutation_p.G610V|WWC1_uc003lzw.2_Missense_Mutation_p.G409V	p.G610V	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	12	1922	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	610					B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.1829G>T	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119676	0.37436	.	.	ENSG00000113645	ENST00000265293;ENST00000521089	T;T	0.18338	2.22;2.22	5.18	4.29	0.51040	.	0.802620	0.11474	N	0.560365	T	0.12092	0.0294	N	0.15975	0.35	0.33700	D	0.614438	B;B;B;B	0.15930	0.001;0.015;0.008;0.005	B;B;B;B	0.15870	0.007;0.009;0.014;0.006	T	0.15263	-1.0443	10	0.18710	T	0.47	.	15.6635	0.77206	0.0:0.1375:0.8625:0.0	.	610;516;516;610	Q8IX03-2;F5H498;B3KX05;Q8IX03	.;.;.;KIBRA_HUMAN	V	610	ENSP00000265293:G610V;ENSP00000427772:G610V	ENSP00000265293:G610V	G	+	2	0	WWC1	167787634	1.000000	0.71417	0.012000	0.15200	0.822000	0.46500	4.626000	0.61269	1.371000	0.46172	0.655000	0.94253	GGG		0.542	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		15	31	1	0	6.32e-08	7.49e-08	15	31				
SLIT3	6586	broad.mit.edu	37	5	168135107	168135107	+	Splice_Site	SNP	T	T	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:168135107T>G	ENST00000519560.1	-	26	3139		c.e26-2		SLIT3_ENST00000332966.8_Silent_p.P913P|CTC-558O2.1_ENST00000521870.1_RNA|SLIT3_ENST00000404867.3_Splice_Site|CTC-558O2.1_ENST00000522615.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCACTGGCCCTGGGCAGCAAA	0.612																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NA																	0				ovary(3)|skin(1)	4						c.e26-1		slit homolog 3 precursor							130.0	94.0	106.0					5																	168135107		2203	4300	6503	SO:0001630	splice_region_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168135107T>G	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2720-2A>C	5.37:g.168135107T>G						SLIT3_uc010jjg.2_Silent_p.P913P	p.G907_splice	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		26	3140	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)						A6H8U9|J3KNP3|O95804|Q9UFH5	Splice_Site	SNP	ENST00000519560.1	37	c.2720_splice	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.035197	0.75617	.	.	ENSG00000184347	ENST00000519560;ENST00000404867	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6294	0.68645	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLIT3	168067685	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.040000	0.89188	1.863000	0.54032	0.477000	0.44152	.		0.612	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	Intron	5	41	0	0	0	0	5	41				
SPDL1	54908	broad.mit.edu	37	5	169015579	169015579	+	Splice_Site	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:169015579G>C	ENST00000265295.4	+	2	438	c.159G>C	c.(157-159)gaG>gaC	p.E53D	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		CCATGACTGAGGTAGGACTCT	0.363																																						uc003mae.3		NA																	0				ovary(1)|liver(1)	2						c.(157-159)GAG>GAC		coiled-coil domain containing 99							111.0	108.0	109.0					5																	169015579		2203	4300	6503	SO:0001630	splice_region_variant	54908				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding	g.chr5:169015579G>C	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.159+1G>C	5.37:g.169015579G>C						CCDC99_uc010jjj.2_Intron|CCDC99_uc011deq.1_5'UTR|CCDC99_uc010jjk.2_5'UTR	p.E53D	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	438	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	53			Potential.			Missense_Mutation	SNP	ENST00000265295.4	37	c.159G>C	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432041	0.83776	.	.	ENSG00000040275	ENST00000265295;ENST00000274631;ENST00000506574;ENST00000515224;ENST00000508247;ENST00000513941;ENST00000513795	T	0.52526	0.66	5.42	5.42	0.78866	.	0.101739	0.64402	D	0.000003	T	0.66616	0.2807	M	0.72894	2.215	0.54753	D	0.999988	D	0.89917	1.0	D	0.83275	0.996	T	0.68743	-0.5328	10	0.72032	D	0.01	-20.1859	12.8812	0.58017	0.0747:0.0:0.9253:0.0	.	53	Q96EA4	SPDLY_HUMAN	D	53	ENSP00000265295:E53D	ENSP00000265295:E53D	E	+	3	2	CCDC99	168948157	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.223000	0.72257	2.704000	0.92352	0.655000	0.94253	GAG		0.363	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785	Missense_Mutation	9	38	0	0	0	0	9	38				
CDHR2	54825	broad.mit.edu	37	5	176005489	176005489	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:176005489G>A	ENST00000510636.1	+	16	1972	c.1698G>A	c.(1696-1698)ctG>ctA	p.L566L	CDHR2_ENST00000261944.5_Silent_p.L566L|CDHR2_ENST00000506348.1_Silent_p.L566L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	566	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCGGGAACCTGTCCTCCTCCA	0.627																																						uc003mem.1		NA																	0				ovary(2)	2						c.(1696-1698)CTG>CTA		protocadherin LKC precursor							86.0	64.0	72.0					5																	176005489		2202	4300	6502	SO:0001819	synonymous_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176005489G>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1698G>A	5.37:g.176005489G>A						CDHR2_uc003men.1_Silent_p.L566L	p.L566L	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN			16	1764	+			566			Extracellular (Potential).|Cadherin 5.		A1L3U4|A6NC80|Q9NXP8	Silent	SNP	ENST00000510636.1	37	c.1698G>A	CCDS34297.1																																																																																				0.627	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		4	23	0	0	0	0	4	23				
NSD1	64324	broad.mit.edu	37	5	176637776	176637776	+	Nonsense_Mutation	SNP	C	C	A	rs368839996		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:176637776C>A	ENST00000439151.2	+	5	2421	c.2376C>A	c.(2374-2376)tgC>tgA	p.C792*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.C689*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.C523*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.C523*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	792					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTATAAAGTGCAAACACAAAG	0.428			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(2374-2376)TGC>TGA		nuclear receptor binding SET domain protein 1							55.0	55.0	55.0					5																	176637776		2203	4300	6503	SO:0001587	stop_gained	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176637776C>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2376C>A	5.37:g.176637776C>A	ENSP00000395929:p.Cys792*	HNSCC(47;0.14)				NSD1_uc003mft.3_Nonsense_Mutation_p.C523*|NSD1_uc003mfs.1_Nonsense_Mutation_p.C689*|NSD1_uc011dfx.1_Nonsense_Mutation_p.C440*	p.C792*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	2514	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	792					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.2376C>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	37	6.016932	0.97205	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.35	5.35	0.76521	.	0.184296	0.39407	N	0.001362	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1949	0.86890	0.0:1.0:0.0:0.0	.	.	.	.	X	523;523;792;523;689	.	.	C	+	3	2	NSD1	176570382	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	1.375000	0.34295	2.656000	0.90262	0.655000	0.94253	TGC		0.428	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		11	38	1	0	0.000673444	0.000708299	11	38				
NSD1	64324	broad.mit.edu	37	5	176684042	176684042	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:176684042G>C	ENST00000439151.2	+	13	4901	c.4856G>C	c.(4855-4857)tGt>tCt	p.C1619S	NSD1_ENST00000347982.4_Missense_Mutation_p.C1350S|NSD1_ENST00000354179.4_Missense_Mutation_p.C1350S|NSD1_ENST00000361032.4_Missense_Mutation_p.C1516S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1619					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CATGAAGAGTGTGTCCAGAAG	0.468			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(4855-4857)TGT>TCT		nuclear receptor binding SET domain protein 1							142.0	122.0	129.0					5																	176684042		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176684042G>C	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4856G>C	5.37:g.176684042G>C	ENSP00000395929:p.Cys1619Ser	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.C1350S|NSD1_uc003mfs.1_Missense_Mutation_p.C1516S|NSD1_uc011dfx.1_Missense_Mutation_p.C1267S	p.C1619S	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	13	4994	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1619			PHD-type 2.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.4856G>C	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813106	0.90707	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.96011	-3.88;-3.88;-3.88;-3.88	4.9	4.9	0.64082	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.64402	D	0.000007	D	0.98314	0.9441	M	0.92219	3.285	0.80722	D	1	D;D;D	0.89917	1.0;0.986;0.999	D;D;D	0.91635	0.999;0.973;0.995	D	0.99232	1.0882	10	0.87932	D	0	.	18.9766	0.92740	0.0:0.0:1.0:0.0	.	1350;1516;1619	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	S	1350;1619;1350;1516	ENSP00000346111:C1350S;ENSP00000395929:C1619S;ENSP00000343209:C1350S;ENSP00000354310:C1516S	ENSP00000343209:C1350S	C	+	2	0	NSD1	176616648	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.732000	0.98816	2.649000	0.89929	0.650000	0.86243	TGT		0.468	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		39	50	0	0	0	0	39	50				
NSD1	64324	broad.mit.edu	37	5	176721512	176721512	+	Silent	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:176721512C>A	ENST00000439151.2	+	23	7188	c.7143C>A	c.(7141-7143)ccC>ccA	p.P2381P	NSD1_ENST00000347982.4_Silent_p.P2112P|NSD1_ENST00000354179.4_Silent_p.P2112P|NSD1_ENST00000361032.4_Silent_p.P2278P	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2381	Pro-rich.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTCAGTTCCCACTGGCCTGA	0.562			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(7141-7143)CCC>CCA		nuclear receptor binding SET domain protein 1							53.0	56.0	55.0					5																	176721512		2203	4300	6503	SO:0001819	synonymous_variant	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176721512C>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.7143C>A	5.37:g.176721512C>A		HNSCC(47;0.14)				NSD1_uc003mft.3_Silent_p.P2112P|NSD1_uc011dfx.1_Silent_p.P2029P	p.P2381P	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	23	7281	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2381			Pro-rich.		Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	c.7143C>A	CCDS4412.1																																																																																				0.562	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		16	63	1	0	2.32e-05	2.57e-05	16	63				
NCR2	9436	broad.mit.edu	37	6	41318574	41318574	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:41318574G>C	ENST00000373089.5	+	5	891	c.803G>C	c.(802-804)aGc>aCc	p.S268T	NCR2_ENST00000373083.4_3'UTR|NCR2_ENST00000373086.3_3'UTR	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	268					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					actaagataagcgatgatgat	0.408																																						uc003oqh.2		NA																	0				ovary(1)	1						c.(802-804)AGC>ACC		natural cytotoxicity triggering receptor 2							95.0	88.0	91.0					6																	41318574		2203	4300	6503	SO:0001583	missense	9436				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr6:41318574G>C	AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	6732	protein-coding gene	gene with protein product		604531	"""lymphocyte antigen 95 (activating NK-receptor; NK-p44)"""	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.803G>C	6.37:g.41318574G>C	ENSP00000362181:p.Ser268Thr					NCR2_uc003oqi.2_3'UTR|NCR2_uc003oqj.2_3'UTR	p.S268T	NM_004828	NP_004819	O95944	NCTR2_HUMAN			5	890	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		268			Cytoplasmic (Potential).		Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Missense_Mutation	SNP	ENST00000373089.5	37	c.803G>C	CCDS4855.1	.	.	.	.	.	.	.	.	.	.	G	2.786	-0.252503	0.05829	.	.	ENSG00000096264	ENST00000373089	T	0.15603	2.41	0.885	-1.77	0.07982	.	.	.	.	.	T	0.01870	0.0059	N	0.14661	0.345	0.09310	N	1	B	0.32425	0.371	B	0.19148	0.024	T	0.39781	-0.9597	9	0.87932	D	0	.	1.5363	0.02546	0.3883:0.0:0.3024:0.3094	.	268	O95944	NCTR2_HUMAN	T	268	ENSP00000362181:S268T	ENSP00000362181:S268T	S	+	2	0	NCR2	41426552	0.005000	0.15991	0.001000	0.08648	0.010000	0.07245	0.404000	0.20999	-1.061000	0.03185	-0.339000	0.08088	AGC		0.408	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040511.3			16	34	0	0	0	0	16	34				
COL19A1	1310	broad.mit.edu	37	6	70778326	70778326	+	Silent	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:70778326G>T	ENST00000322773.4	+	15	1284	c.1182G>T	c.(1180-1182)ggG>ggT	p.G394G	COL19A1_ENST00000393344.1_Silent_p.G16G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	394	Collagen-like 3.|Triple-helical region 2 (COL2).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTTCCCTGGGGATACAAGGCC	0.418																																						uc003pfc.1		NA																	0				ovary(2)|breast(2)	4						c.(1180-1182)GGG>GGT		alpha 1 type XIX collagen precursor							101.0	94.0	96.0					6																	70778326		2203	4300	6503	SO:0001819	synonymous_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70778326G>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1182G>T	6.37:g.70778326G>T						COL19A1_uc010kam.1_Silent_p.G290G	p.G394G	NM_001858	NP_001849	Q14993	COJA1_HUMAN			15	1299	+			394			Triple-helical region 2 (COL2).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.1182G>T	CCDS4970.1																																																																																				0.418	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			13	38	1	0	1.68e-08	2.01e-08	13	38				
SLC35F1	222553	broad.mit.edu	37	6	118556735	118556735	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:118556735T>C	ENST00000360388.4	+	3	614	c.413T>C	c.(412-414)aTa>aCa	p.I138T		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	138					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTGGGACTCATAGACCTGGAA	0.433																																						uc003pxx.3		NA																	0				breast(1)	1						c.(412-414)ATA>ACA		solute carrier family 35, member F1							157.0	142.0	147.0					6																	118556735		2203	4300	6503	SO:0001583	missense	222553				transport	integral to membrane		g.chr6:118556735T>C	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.413T>C	6.37:g.118556735T>C	ENSP00000353557:p.Ile138Thr						p.I138T	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	3	614	+			138			Helical; (Potential).		E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	c.413T>C	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	T	7.112	0.576245	0.13686	.	.	ENSG00000196376	ENST00000360388	T	0.69175	-0.38	5.76	4.6	0.57074	.	0.106857	0.64402	D	0.000014	T	0.46308	0.1386	L	0.54965	1.715	0.37008	D	0.895601	B	0.16166	0.016	B	0.22152	0.038	T	0.46871	-0.9160	10	0.39692	T	0.17	.	11.9096	0.52731	0.0:0.068:0.0:0.932	.	138	Q5T1Q4	S35F1_HUMAN	T	138	ENSP00000353557:I138T	ENSP00000353557:I138T	I	+	2	0	SLC35F1	118663428	1.000000	0.71417	0.975000	0.42487	0.029000	0.11900	3.050000	0.49877	1.124000	0.41980	-0.263000	0.10527	ATA		0.433	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		23	46	0	0	0	0	23	46				
FAM184A	79632	broad.mit.edu	37	6	119341265	119341265	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:119341265C>A	ENST00000338891.7	-	4	1653	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*	FAM184A_ENST00000521531.1_Nonsense_Mutation_p.E404*|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Nonsense_Mutation_p.E284*|FAM184A_ENST00000522284.1_Nonsense_Mutation_p.E284*|FAM184A_ENST00000352896.5_Nonsense_Mutation_p.E284*	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	404						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTTTCTGATTCTAAATCTTTA	0.363																																						uc003pyj.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						c.(1210-1212)GAA>TAA		hypothetical protein LOC79632 isoform 1							102.0	89.0	93.0					6																	119341265		1806	4077	5883	SO:0001587	stop_gained	79632							g.chr6:119341265C>A	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1210G>T	6.37:g.119341265C>A	ENSP00000342604:p.Glu404*					FAM184A_uc003pyk.3_Nonsense_Mutation_p.E284*|FAM184A_uc003pyl.3_Nonsense_Mutation_p.E284*	p.E404*	NM_024581	NP_078857	Q8NB25	F184A_HUMAN			4	1558	-			404			Potential.		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Nonsense_Mutation	SNP	ENST00000338891.7	37	c.1210G>T	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	42	9.417430	0.99164	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	.	.	.	5.98	5.98	0.97165	.	0.050868	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-18.513	20.4581	0.99154	0.0:1.0:0.0:0.0	.	.	.	.	X	404;284;284;404;284	.	ENSP00000342604:E404X	E	-	1	0	FAM184A	119382964	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.118000	0.77137	2.835000	0.97688	0.650000	0.86243	GAA		0.363	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		13	35	1	0	9.05e-12	1.15e-11	13	35				
LAMA2	3908	broad.mit.edu	37	6	129674405	129674405	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:129674405C>G	ENST00000421865.2	+	32	4669	c.4620C>G	c.(4618-4620)gaC>gaG	p.D1540E		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1540	Laminin EGF-like 17. {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)		TGCCCTGTGACCCTGTCACAG	0.602																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(4618-4620)GAC>GAG		laminin alpha 2 subunit isoform a precursor							86.0	75.0	79.0					6																	129674405		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.chr6:129674405C>G	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.4620C>G	6.37:g.129674405C>G	ENSP00000400365:p.Asp1540Glu					LAMA2_uc003qbo.2_Missense_Mutation_p.D1540E	p.D1540E	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	32	4725	+			1540			Laminin EGF-like 17.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4620C>G	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124813	0.56613	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.56941	0.43	5.75	1.01	0.19927	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.58708	0.2141	M	0.79123	2.44	0.42300	D	0.992171	D;D	0.76494	0.999;0.998	D;D	0.72338	0.969;0.977	T	0.63111	-0.6710	10	0.87932	D	0	.	9.9446	0.41600	0.0:0.5308:0.0:0.4692	.	1540;1540	A6NF00;P24043	.;LAMA2_HUMAN	E	1540	ENSP00000400365:D1540E	ENSP00000346769:D1540E	D	+	3	2	LAMA2	129716098	0.998000	0.40836	0.458000	0.27068	0.600000	0.36913	1.516000	0.35856	-0.096000	0.12329	-0.384000	0.06662	GAC		0.602	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			23	50	0	0	0	0	23	50				
LAMA2	3908	broad.mit.edu	37	6	129714275	129714275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:129714275G>T	ENST00000421865.2	+	37	5369	c.5320G>T	c.(5320-5322)Gaa>Taa	p.E1774*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1774	Domain II and I.				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)		GGATCTCCGGGAAAAACTGGC	0.448																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(5320-5322)GAA>TAA		laminin alpha 2 subunit isoform a precursor							78.0	81.0	80.0					6																	129714275		2203	4300	6503	SO:0001587	stop_gained	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.chr6:129714275G>T	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.5320G>T	6.37:g.129714275G>T	ENSP00000400365:p.Glu1774*					LAMA2_uc003qbo.2_Nonsense_Mutation_p.E1774*	p.E1774*	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	37	5425	+			1774			Domain II and I.|Potential.		Q14736|Q5VUM2|Q93022	Nonsense_Mutation	SNP	ENST00000421865.2	37	c.5320G>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	42	9.661261	0.99231	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	.	.	.	5.37	4.5	0.54988	.	0.379169	0.29515	N	0.011927	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	16.3198	0.82945	0.0:0.132:0.868:0.0	.	.	.	.	X	1774	.	ENSP00000346769:E1774X	E	+	1	0	LAMA2	129755968	1.000000	0.71417	0.106000	0.21319	0.024000	0.10985	3.533000	0.53561	1.242000	0.43836	0.579000	0.79373	GAA		0.448	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			17	47	1	0	4.75e-09	5.76e-09	17	47				
ENPP3	5169	broad.mit.edu	37	6	132039838	132039838	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:132039838G>A	ENST00000414305.1	+	17	1767	c.1439G>A	c.(1438-1440)gGa>gAa	p.G480E	ENPP3_ENST00000358229.5_Missense_Mutation_p.G480E|ENPP3_ENST00000357639.3_Missense_Mutation_p.G480E			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	480	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AATTGTGGAGGAGGCAACCAT	0.294																																						uc003qcu.3		NA																	0				ovary(3)|skin(1)	4						c.(1438-1440)GGA>GAA		ectonucleotide pyrophosphatase/phosphodiesterase							98.0	103.0	102.0					6																	132039838		2203	4299	6502	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132039838G>A	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1439G>A	6.37:g.132039838G>A	ENSP00000406261:p.Gly480Glu					ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.G480E	p.G480E	NM_005021	NP_005012	O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	17	1786	+	Breast(56;0.0753)		480			Extracellular (Potential).|Phosphodiesterase.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.1439G>A	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607144	0.66558	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.76578	-1.03;-1.03;-1.03	5.6	5.6	0.85130	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.208448	0.36134	N	0.002765	D	0.85847	0.5792	M	0.79693	2.465	0.80722	D	1	D	0.63046	0.992	D	0.65323	0.934	D	0.86037	0.1517	10	0.54805	T	0.06	-20.7518	16.8962	0.86101	0.0:0.0:1.0:0.0	.	480	O14638	ENPP3_HUMAN	E	480	ENSP00000406261:G480E;ENSP00000350265:G480E;ENSP00000350964:G480E	ENSP00000350265:G480E	G	+	2	0	ENPP3	132081531	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	3.214000	0.51161	2.798000	0.96311	0.650000	0.86243	GGA		0.294	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			25	67	0	0	0	0	25	67				
SYNE1	23345	broad.mit.edu	37	6	152665276	152665276	+	Silent	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:152665276G>T	ENST00000367255.5	-	74	12766	c.12165C>A	c.(12163-12165)gtC>gtA	p.V4055V	SYNE1_ENST00000423061.1_Silent_p.V3984V|SYNE1_ENST00000341594.5_Silent_p.V3920V|SYNE1_ENST00000448038.1_Silent_p.V3984V|SYNE1_ENST00000265368.4_Silent_p.V4055V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4055					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.V4055V(2)|p.V3984V(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATCCGGCTGGACTGCAGAAA	0.483										HNSCC(10;0.0054)																												uc010kiw.2		NA																	3	Substitution - coding silent(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(12163-12165)GTC>GTA		spectrin repeat containing, nuclear envelope 1							120.0	114.0	116.0					6																	152665276		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152665276G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12165C>A	6.37:g.152665276G>T		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.V3984V|SYNE1_uc003qou.3_Silent_p.V4055V|SYNE1_uc010kja.1_Silent_p.V760V	p.V4055V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	74	12767	-		Ovarian(120;0.0955)	4055			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.12165C>A	CCDS5236.2																																																																																				0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		42	39	1	0	3.62e-18	4.79e-18	42	39				
SDK1	221935	broad.mit.edu	37	7	4188976	4188976	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:4188976C>T	ENST00000404826.2	+	30	4645	c.4506C>T	c.(4504-4506)ggC>ggT	p.G1502G	SDK1_ENST00000389531.3_Silent_p.G1502G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1502	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGGTCCCGGGCAGCGACGGGG	0.677																																						uc003smx.2		NA																	0				large_intestine(3)|ovary(2)|skin(1)	6						c.(4504-4506)GGC>GGT		sidekick 1 precursor							26.0	27.0	27.0					7																	4188976		2203	4299	6502	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4188976C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4506C>T	7.37:g.4188976C>T						SDK1_uc010kso.2_Silent_p.G778G|SDK1_uc003smy.2_5'UTR	p.G1502G	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	30	4645	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1502			Fibronectin type-III 9.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.4506C>T	CCDS34590.1																																																																																				0.677	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		10	22	0	0	0	0	10	22				
ABCA13	154664	broad.mit.edu	37	7	48312325	48312325	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:48312325T>A	ENST00000435803.1	+	17	3086	c.3062T>A	c.(3061-3063)cTt>cAt	p.L1021H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1021					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCAGAGGTTCTTGGGGGAATT	0.338																																						uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(3061-3063)CTT>CAT		ATP binding cassette, sub-family A (ABC1),							23.0	22.0	22.0					7																	48312325		1808	4071	5879	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48312325T>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.3062T>A	7.37:g.48312325T>A	ENSP00000411096:p.Leu1021His					ABCA13_uc010kyr.2_Missense_Mutation_p.L524H	p.L1021H	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	3087	+			1021					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.3062T>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.913831	0.52439	.	.	ENSG00000179869	ENST00000435803	D	0.92048	-2.96	5.67	4.52	0.55395	.	0.159667	0.29444	N	0.012135	D	0.94295	0.8167	M	0.66939	2.045	0.35038	D	0.759451	D	0.89917	1.0	D	0.65573	0.936	D	0.95983	0.8979	10	0.87932	D	0	.	9.7336	0.40376	0.0:0.0782:0.0:0.9218	.	1021	Q86UQ4	ABCAD_HUMAN	H	1021	ENSP00000411096:L1021H	ENSP00000411096:L1021H	L	+	2	0	ABCA13	48282871	0.826000	0.29277	0.020000	0.16555	0.885000	0.51271	4.448000	0.60027	1.085000	0.41206	0.533000	0.62120	CTT		0.338	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		8	13	0	0	0	0	8	13				
PCLO	27445	broad.mit.edu	37	7	82582945	82582945	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:82582945T>A	ENST00000333891.9	-	5	7661	c.7324A>T	c.(7324-7326)Aag>Tag	p.K2442*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.K2442*|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTGTTAACTTTTTTTTAGGA	0.498																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(7324-7326)AAG>TAG		piccolo isoform 1							55.0	52.0	53.0					7																	82582945		1855	4091	5946	SO:0001587	stop_gained	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82582945T>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7324A>T	7.37:g.82582945T>A	ENSP00000334319:p.Lys2442*					PCLO_uc003uhv.2_Nonsense_Mutation_p.K2442*|PCLO_uc010lec.2_5'Flank	p.K2442*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	7613	-			2373			Pro-rich.			Nonsense_Mutation	SNP	ENST00000333891.9	37	c.7324A>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	49	15.436418	0.99834	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.4734	0.61295	0.0:0.0:0.0:1.0	.	.	.	.	X	2373;2442;2442	.	ENSP00000334319:K2442X	K	-	1	0	PCLO	82420881	1.000000	0.71417	0.962000	0.40283	0.379000	0.30106	3.810000	0.55613	1.671000	0.50874	0.397000	0.26171	AAG		0.498	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		3	12	0	0	0	0	3	12				
GRM3	2913	broad.mit.edu	37	7	86479718	86479718	+	Silent	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:86479718C>T	ENST00000361669.2	+	5	3523	c.2424C>T	c.(2422-2424)agC>agT	p.S808S	GRM3_ENST00000536043.1_Silent_p.S680S|GRM3_ENST00000439827.1_Missense_Mutation_p.P453S|GRM3_ENST00000394720.2_Missense_Mutation_p.P451S|GRM3_ENST00000546348.1_Silent_p.S400S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	808					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TCTCTGTCAGCCTGAGTGGCT	0.488																																					GBM(52;969 1098 3139 52280)	uc003uid.2		NA																	0				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(2422-2424)AGC>AGT		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						234.0	162.0	187.0					7																	86479718		2203	4300	6503	SO:0001819	synonymous_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86479718C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2424C>T	7.37:g.86479718C>T						GRM3_uc010lef.2_Missense_Mutation_p.P451S|GRM3_uc010leg.2_Silent_p.S680S|GRM3_uc010leh.2_Silent_p.S400S	p.S808S	NM_000840	NP_000831	Q14832	GRM3_HUMAN			5	3523	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		808			Helical; Name=7; (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.2424C>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751240	0.49257	.	.	ENSG00000198822	ENST00000439827;ENST00000394720	D;D	0.88201	-2.35;-2.35	5.97	5.09	0.68999	.	.	.	.	.	T	0.81293	0.4792	.	.	.	0.25732	N	0.985258	B	0.02656	0.0	B	0.09377	0.004	T	0.66791	-0.5834	7	.	.	.	.	10.3816	0.44115	0.0:0.8372:0.0:0.1628	.	453	G5E9K2	.	S	453;451	ENSP00000398767:P453S;ENSP00000378209:P451S	.	P	+	1	0	GRM3	86317654	0.987000	0.35691	1.000000	0.80357	0.999000	0.98932	0.273000	0.18662	1.541000	0.49316	0.655000	0.94253	CCT		0.488	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			17	30	0	0	0	0	17	30				
TRRAP	8295	broad.mit.edu	37	7	98609784	98609784	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:98609784G>T	ENST00000359863.4	+	72	11595	c.11386G>T	c.(11386-11388)Gcc>Tcc	p.A3796S	TRRAP_ENST00000355540.3_Missense_Mutation_p.A3767S|AC004893.11_ENST00000360902.1_RNA|TRRAP_ENST00000446306.3_Missense_Mutation_p.A3785S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3796	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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)			TCTCTCGGCCGCCGGGCAGCC	0.582																																						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.(11386-11388)GCC>TCC		transformation/transcription domain-associated							64.0	58.0	60.0					7																	98609784		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.chr7:98609784G>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.11386G>T	7.37:g.98609784G>T	ENSP00000352925:p.Ala3796Ser					TRRAP_uc011kis.1_Missense_Mutation_p.A3767S|TRRAP_uc003upr.2_Missense_Mutation_p.A3502S|TRRAP_uc003ups.2_5'Flank	p.A3796S	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		72	11595	+	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)		3796			PI3K/PI4K.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.11386G>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	9.430	1.085256	0.20390	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.80909	-1.43;-1.43	5.44	5.44	0.79542	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.000000	0.85682	D	0.000000	T	0.68311	0.2987	L	0.27053	0.805	0.80722	D	1	B;B;B	0.27013	0.118;0.04;0.166	B;B;B	0.18871	0.023;0.007;0.015	T	0.66027	-0.6025	10	0.05959	T	0.93	.	19.2669	0.93990	0.0:0.0:1.0:0.0	.	3767;3524;3796	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	S	3796;3767;3784	ENSP00000352925:A3796S;ENSP00000347733:A3767S	ENSP00000347733:A3767S	A	+	1	0	TRRAP	98447720	1.000000	0.71417	0.825000	0.32803	0.136000	0.21042	9.466000	0.97665	2.549000	0.85964	0.655000	0.94253	GCC		0.582	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		16	23	1	0	2e-07	2.35e-07	16	23				
GAL3ST4	79690	broad.mit.edu	37	7	99757693	99757693	+	Missense_Mutation	SNP	C	C	A	rs200495131		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:99757693C>A	ENST00000360039.4	-	4	1711	c.1319G>T	c.(1318-1320)cGg>cTg	p.R440L	C7orf43_ENST00000457641.1_5'Flank|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R440L|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R378L|C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000498638.1_5'Flank	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	440					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAATCCACTCCGAAGTATATA	0.557																																						uc003utt.2		NA																	0				ovary(3)	3						c.(1318-1320)CGG>CTG		galactose-3-O-sulfotransferase 4							93.0	81.0	85.0					7																	99757693		2203	4300	6503	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99757693C>A	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.1319G>T	7.37:g.99757693C>A	ENSP00000353142:p.Arg440Leu					C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R440L|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R378L	p.R440L	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN			3	2336	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		440			Lumenal (Potential).		A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.1319G>T	CCDS5688.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995261	0.54147	.	.	ENSG00000197093	ENST00000413800;ENST00000360039;ENST00000426974	T;T;T	0.15603	2.41;2.41;2.41	5.92	1.29	0.21616	.	0.473238	0.19393	U	0.115369	T	0.24275	0.0588	M	0.72894	2.215	0.09310	N	1	P;P	0.49307	0.922;0.756	P;B	0.48304	0.573;0.297	T	0.07751	-1.0756	10	0.59425	D	0.04	-5.7265	8.857	0.35234	0.0:0.5059:0.0:0.4941	.	378;440	B4DWL8;Q96RP7	.;G3ST4_HUMAN	L	440;440;378	ENSP00000400451:R440L;ENSP00000353142:R440L;ENSP00000398304:R378L	ENSP00000353142:R440L	R	-	2	0	GAL3ST4	99595629	0.038000	0.19896	0.992000	0.48379	0.715000	0.41141	0.211000	0.17474	0.192000	0.20272	-0.291000	0.09656	CGG		0.557	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		14	67	1	0	1.05e-09	1.3e-09	14	67				
FBXL13	222235	broad.mit.edu	37	7	102604000	102604000	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:102604000G>T	ENST00000313221.4	-	8	1130	c.704C>A	c.(703-705)cCc>cAc	p.P235H	FBXL13_ENST00000379305.3_Missense_Mutation_p.P235H|FBXL13_ENST00000455112.2_Missense_Mutation_p.P235H|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000456695.1_Missense_Mutation_p.P235H|FBXL13_ENST00000393772.2_Missense_Mutation_p.P235H|FBXL13_ENST00000379308.3_Missense_Mutation_p.P235H|FBXL13_ENST00000379306.3_Missense_Mutation_p.P235H|FBXL13_ENST00000436908.1_Missense_Mutation_p.P235H	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	235										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GAAAGTTTTGGGTCGGAGAAG	0.328																																						uc003vaq.2		NA																	0					0						c.(703-705)CCC>CAC		F-box and leucine-rich repeat protein 13 isoform							83.0	85.0	84.0					7																	102604000		2203	4300	6503	SO:0001583	missense	222235							g.chr7:102604000G>T	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.704C>A	7.37:g.102604000G>T	ENSP00000321927:p.Pro235His					FBXL13_uc010liq.1_Missense_Mutation_p.P50H|FBXL13_uc010lir.1_Missense_Mutation_p.P235H|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.P235H|FBXL13_uc003vav.2_RNA	p.P235H	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN			8	1131	-			235			LRR 1.		C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.704C>A	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079133	0.36662	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.53206	2.32;2.32;2.32;2.32;0.63;0.63;2.32;2.32	5.83	-0.046	0.13849	.	1.198870	0.05993	N	0.646383	T	0.42291	0.1196	N	0.22421	0.69	0.09310	N	1	P;D;P;P	0.57257	0.705;0.979;0.943;0.58	P;P;P;B	0.54372	0.532;0.75;0.631;0.396	T	0.28073	-1.0055	10	0.44086	T	0.13	.	3.3542	0.07163	0.1636:0.2871:0.447:0.1024	.	235;235;235;235	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	H	235;235;235;162;235;235;235;235;235	ENSP00000377367:P235H;ENSP00000368610:P235H;ENSP00000368608:P235H;ENSP00000368607:P235H;ENSP00000388608:P235H;ENSP00000321927:P235H;ENSP00000409716:P235H;ENSP00000391550:P235H	ENSP00000321927:P235H	P	-	2	0	FBXL13	102391236	0.000000	0.05858	0.001000	0.08648	0.868000	0.49771	0.209000	0.17435	-0.009000	0.14296	0.650000	0.86243	CCC		0.328	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		20	55	1	0	3.62e-10	4.5e-10	20	55				
DOCK4	9732	broad.mit.edu	37	7	111379256	111379256	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:111379256G>A	ENST00000437633.1	-	48	5395	c.5139C>T	c.(5137-5139)aaC>aaT	p.N1713N	DOCK4_ENST00000428084.1_Silent_p.N1722N|DOCK4_ENST00000494651.2_Silent_p.N596N	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1713	Ser-rich.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACAGGCAAGAGTTTTCTCGGG	0.483																																						uc003vfx.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(5137-5139)AAC>AAT		dedicator of cytokinesis 4							197.0	195.0	196.0					7																	111379256		1970	4170	6140	SO:0001819	synonymous_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111379256G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.5139C>T	7.37:g.111379256G>A						DOCK4_uc011kml.1_Silent_p.N594N|DOCK4_uc011kmm.1_Silent_p.N620N|DOCK4_uc003vfw.2_Silent_p.N1163N|DOCK4_uc003vfy.2_Silent_p.N1758N|DOCK4_uc003vfv.2_Silent_p.N26N	p.N1713N	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			48	5408	-		Acute lymphoblastic leukemia(1;0.0441)	1713			Ser-rich.		O14584|O94824|Q8NB45	Silent	SNP	ENST00000437633.1	37	c.5139C>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	9.040	0.989332	0.18966	.	.	ENSG00000128512	ENST00000423057;ENST00000445943	.	.	.	5.95	5.07	0.68467	.	.	.	.	.	T	0.63861	0.2547	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62666	-0.6806	4	.	.	.	.	12.1622	0.54110	0.1369:0.0:0.8631:0.0	.	.	.	.	I	1174;1746	.	.	T	-	2	0	DOCK4	111166492	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.439000	0.44846	1.529000	0.49120	-0.140000	0.14226	ACT		0.483	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		15	85	0	0	0	0	15	85				
CHRM2	1129	broad.mit.edu	37	7	136700500	136700500	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:136700500G>C	ENST00000445907.2	+	3	1416	c.888G>C	c.(886-888)atG>atC	p.M296I	CHRM2_ENST00000397608.3_Missense_Mutation_p.M296I|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.M296I|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.M296I|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.M296I|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.M296I	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	296					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCTCTAATATGAGAGATGATG	0.478																																						uc003vtf.1		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(886-888)ATG>ATC		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						73.0	76.0	75.0					7																	136700500		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700500G>C		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.888G>C	7.37:g.136700500G>C	ENSP00000399745:p.Met296Ile					CHRM2_uc003vtg.1_Missense_Mutation_p.M296I|CHRM2_uc003vtj.1_Missense_Mutation_p.M296I|CHRM2_uc003vtk.1_Missense_Mutation_p.M296I|CHRM2_uc003vtl.1_Missense_Mutation_p.M296I|CHRM2_uc003vtm.1_Missense_Mutation_p.M296I|CHRM2_uc003vti.1_Missense_Mutation_p.M296I|CHRM2_uc003vto.1_Missense_Mutation_p.M296I|CHRM2_uc003vtn.1_Missense_Mutation_p.M296I|uc003vtp.1_Intron	p.M296I	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1511	+			296			Cytoplasmic (By similarity).		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.888G>C	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	6.446	0.450384	0.12223	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2;0.2	5.4	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.853390	0.10468	N	0.671148	T	0.33381	0.0861	N	0.08118	0	0.24477	N	0.994368	B	0.02656	0.0	B	0.01281	0.0	T	0.08472	-1.0720	10	0.25751	T	0.34	-7.9751	5.3491	0.16026	0.1161:0.123:0.62:0.1409	.	296	P08172	ACM2_HUMAN	I	296	ENSP00000399745:M296I;ENSP00000415386:M296I;ENSP00000319984:M296I;ENSP00000380733:M296I;ENSP00000384937:M296I;ENSP00000384401:M296I	ENSP00000319984:M296I	M	+	3	0	CHRM2	136351040	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.373000	0.52394	2.541000	0.85698	0.655000	0.94253	ATG		0.478	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			9	67	0	0	0	0	9	67				
TMEM213	155006	broad.mit.edu	37	7	138487681	138487681	+	Missense_Mutation	SNP	G	G	A	rs200306735		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:138487681G>A	ENST00000442682.2	+	3	344	c.191G>A	c.(190-192)cGc>cAc	p.R64H	TMEM213_ENST00000397602.3_Missense_Mutation_p.R63H|TMEM213_ENST00000458494.1_Missense_Mutation_p.R40H|TMEM213_ENST00000422794.2_Missense_Mutation_p.R114H|TMEM213_ENST00000413208.1_Intron	NM_001085429.1	NP_001078898.1	A2RRL7	TM213_HUMAN	transmembrane protein 213	64						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|lung(1)	6						CGGTGCTGCCGCACAGGAGTG	0.627																																						uc010lna.2		NA																	0					0						c.(190-192)CGC>CAC		transmembrane protein 213		G	HIS/ARG	1,4235		0,1,2117	36.0	41.0	40.0		191	-3.7	0.0	7		40	1,8441		0,1,4220	yes	missense	TMEM213	NM_001085429.1	29	0,2,6337	AA,AG,GG		0.0118,0.0236,0.0158	possibly-damaging	64/108	138487681	2,12676	2118	4221	6339	SO:0001583	missense	155006					integral to membrane		g.chr7:138487681G>A		CCDS47722.1	7q34	2008-08-08			ENSG00000214128	ENSG00000214128			27220	protein-coding gene	gene with protein product							Standard	NM_001085429		Approved		uc010lna.3	A2RRL7	OTTHUMG00000157182	ENST00000442682.2:c.191G>A	7.37:g.138487681G>A	ENSP00000390407:p.Arg64His					TMEM213_uc010lnb.2_Missense_Mutation_p.R63H	p.R64H	NM_001085429	NP_001078898	A2RRL7	TM213_HUMAN			3	302	+			64			Extracellular (Potential).		A4D1R3|C9JH49|C9JX41|C9K0P0	Missense_Mutation	SNP	ENST00000442682.2	37	c.191G>A	CCDS47722.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320933	0.60634	2.36E-4	1.18E-4	ENSG00000214128	ENST00000422794;ENST00000397602;ENST00000442682;ENST00000458494	.	.	.	5.9	-3.73	0.04398	.	0.665889	0.11256	N	0.583087	T	0.12944	0.0314	N	0.02247	-0.625	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.25328	-1.0135	9	0.30078	T	0.28	-15.3016	9.4532	0.38739	0.339:0.1275:0.5334:0.0	.	63;64	A2RRL7-3;A2RRL7	.;TM213_HUMAN	H	114;63;64;40	.	ENSP00000380727:R63H	R	+	2	0	TMEM213	138138221	0.000000	0.05858	0.006000	0.13384	0.413000	0.31143	-0.930000	0.03972	-0.846000	0.04174	-0.300000	0.09419	CGC		0.627	TMEM213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347800.2	NM_001085429		19	36	0	0	0	0	19	36				
ZNF398	57541	broad.mit.edu	37	7	148851047	148851047	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:148851047G>T	ENST00000475153.1	+	2	302	c.35G>T	c.(34-36)tGg>tTg	p.W12L	ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.W17L|ZNF398_ENST00000483892.1_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	12					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			ACATCTGAATGGGACTCCGAG	0.493																																						uc003wfl.2		NA																	0				ovary(1)	1						c.(34-36)TGG>TTG		zinc finger 398 isoform a							82.0	77.0	79.0					7																	148851047		2203	4300	6503	SO:0001583	missense	57541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148851047G>T	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.35G>T	7.37:g.148851047G>T	ENSP00000420418:p.Trp12Leu					ZNF398_uc011kul.1_5'UTR|ZNF398_uc011kum.1_Missense_Mutation_p.W17L	p.W12L	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		2	310	+	Melanoma(164;0.15)		12					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	c.35G>T	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.570023	0.65765	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.10573	3.29;2.86	5.1	5.1	0.69264	.	0.000000	0.44483	D	0.000457	T	0.11324	0.0276	N	0.24115	0.695	0.80722	D	1	P;P	0.51791	0.948;0.948	P;B	0.46975	0.533;0.431	T	0.03898	-1.0994	10	0.52906	T	0.07	-14.9821	14.0294	0.64606	0.0:0.0:1.0:0.0	.	17;12	B4DXA9;Q8TD17	.;ZN398_HUMAN	L	12;17	ENSP00000420418:W12L;ENSP00000439340:W17L	ENSP00000420418:W12L	W	+	2	0	ZNF398	148481980	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.128000	0.57951	2.363000	0.80096	0.563000	0.77884	TGG		0.493	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			21	88	1	0	2.98e-07	3.49e-07	21	88				
ZNF862	643641	broad.mit.edu	37	7	149545456	149545456	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:149545456G>A	ENST00000223210.4	+	4	1119	c.874G>A	c.(874-876)Gat>Aat	p.D292N		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AGAAATCACTGATGGCATCCA	0.403																																						uc010lpn.2		NA																	0				skin(1)	1						c.(874-876)GAT>AAT		zinc finger protein 862							11.0	12.0	12.0					7																	149545456		1855	4071	5926	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149545456G>A	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.874G>A	7.37:g.149545456G>A	ENSP00000223210:p.Asp292Asn					ZNF862_uc003wgm.2_RNA	p.D292N	NM_001099220	NP_001092690	O60290	ZN862_HUMAN			4	1066	+			292					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.874G>A	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	9.258	1.042554	0.19748	.	.	ENSG00000106479	ENST00000223210	T	0.01084	5.36	5.05	1.49	0.22878	.	0.962351	0.08531	N	0.931981	T	0.00845	0.0028	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47749	-0.9093	10	0.16896	T	0.51	-2.0191	6.5262	0.22303	0.4789:0.0:0.5211:0.0	.	292	O60290	ZN862_HUMAN	N	292	ENSP00000223210:D292N	ENSP00000223210:D292N	D	+	1	0	ZNF862	149176389	0.004000	0.15560	0.002000	0.10522	0.526000	0.34562	-0.031000	0.12287	0.437000	0.26423	0.655000	0.94253	GAT		0.403	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		3	14	0	0	0	0	3	14				
USP17L2	377630	broad.mit.edu	37	8	11994697	11994697	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:11994697C>A	ENST00000333796.3	-	1	1889	c.1573G>T	c.(1573-1575)Gct>Tct	p.A525S	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	525	Mediates interaction with SUDS3.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						ACAAGCAGAGCCCTCTTGCTG	0.577																																						uc003wvc.1		NA																	0				skin(2)|upper_aerodigestive_tract(1)	3						c.(1573-1575)GCT>TCT		deubiquitinating enzyme 3							69.0	81.0	77.0					8																	11994697		1482	3041	4523	SO:0001583	missense	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11994697C>A	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.1573G>T	8.37:g.11994697C>A	ENSP00000333329:p.Ala525Ser					FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron	p.A525S	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN			1	1573	-			525						Missense_Mutation	SNP	ENST00000333796.3	37	c.1573G>T	CCDS43713.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.437040	0.01098	.	.	ENSG00000223443	ENST00000333796	T	0.11604	2.76	0.418	-0.836	0.10770	.	1.995500	0.03431	N	0.207765	T	0.03783	0.0107	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30238	-0.9985	8	0.02654	T	1	.	.	.	.	.	525	Q6R6M4	U17L2_HUMAN	S	525	ENSP00000333329:A525S	ENSP00000333329:A525S	A	-	1	0	USP17L2	12032106	0.002000	0.14202	0.014000	0.15608	0.013000	0.08279	-0.580000	0.05827	-0.520000	0.06435	-0.532000	0.04303	GCT		0.577	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402		12	42	1	0	1.05e-09	1.3e-09	12	42				
ANK1	286	broad.mit.edu	37	8	41572572	41572572	+	Silent	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:41572572G>A	ENST00000347528.4	-	15	1706	c.1623C>T	c.(1621-1623)caC>caT	p.H541H	ANK1_ENST00000352337.4_Silent_p.H541H|ANK1_ENST00000379758.2_Silent_p.H541H|ANK1_ENST00000265709.8_Silent_p.H574H|ANK1_ENST00000396942.1_Silent_p.H541H|ANK1_ENST00000289734.7_Silent_p.H541H|ANK1_ENST00000396945.1_Silent_p.H541H	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	541	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.H541H(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCCGCCACGTGCAGAGGGG	0.627																																						uc003xok.2		NA																	1	Substitution - coding silent(1)		prostate(1)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(1621-1623)CAC>CAT		ankyrin 1 isoform 1							64.0	66.0	66.0					8																	41572572		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41572572G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1623C>T	8.37:g.41572572G>A						NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.H541H|ANK1_uc003xoj.2_Silent_p.H541H|ANK1_uc003xol.2_Silent_p.H541H|ANK1_uc003xom.2_Silent_p.H574H	p.H541H	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		15	1707	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	541			89 kDa domain.|ANK 16.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.1623C>T	CCDS6119.1																																																																																				0.627	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		24	67	0	0	0	0	24	67				
DCAF4L2	138009	broad.mit.edu	37	8	88886180	88886180	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:88886180C>G	ENST00000319675.3	-	1	116	c.20G>C	c.(19-21)cGa>cCa	p.R7P		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	7										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CTCGAGCAGTCGCGGTCTTTT	0.522																																						uc003ydz.2		NA																	0				ovary(1)	1						c.(19-21)CGA>CCA		WD repeat domain 21C							48.0	47.0	48.0					8																	88886180		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88886180C>G	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.20G>C	8.37:g.88886180C>G	ENSP00000316496:p.Arg7Pro						p.R7P	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	117	-			7						Missense_Mutation	SNP	ENST00000319675.3	37	c.20G>C	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	C	7.062	0.566514	0.13560	.	.	ENSG00000176566	ENST00000319675	T	0.64803	-0.12	1.39	-2.79	0.05841	.	0.667308	0.15593	N	0.254294	T	0.45418	0.1341	L	0.40543	1.245	0.09310	N	1	P	0.39352	0.669	B	0.38327	0.271	T	0.36792	-0.9733	10	0.54805	T	0.06	.	5.4354	0.16478	0.0:0.3384:0.0:0.6616	.	7	Q8NA75	DC4L2_HUMAN	P	7	ENSP00000316496:R7P	ENSP00000316496:R7P	R	-	2	0	DCAF4L2	88955296	0.833000	0.29383	0.001000	0.08648	0.030000	0.12068	-0.432000	0.06956	-0.919000	0.03803	-0.670000	0.03821	CGA		0.522	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		14	34	0	0	0	0	14	34				
RIPK2	8767	broad.mit.edu	37	8	90798848	90798848	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:90798848G>A	ENST00000220751.4	+	9	1371	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	RIPK2_ENST00000540020.1_Missense_Mutation_p.E216K	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	353					activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|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)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TCAGCTCCATGAAAATAGTGG	0.318																																						uc003yee.2		NA																	0				ovary(2)	2						c.(1057-1059)GAA>AAA		receptor-interacting serine-threonine kinase 2							107.0	109.0	108.0					8																	90798848		2203	4300	6503	SO:0001583	missense	8767				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|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	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity	g.chr8:90798848G>A	AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.1057G>A	8.37:g.90798848G>A	ENSP00000220751:p.Glu353Lys					RIPK2_uc003yef.2_Missense_Mutation_p.E216K	p.E353K	NM_003821	NP_003812	O43353	RIPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0474)		9	1371	+			353					B7Z748|Q6UWF0	Missense_Mutation	SNP	ENST00000220751.4	37	c.1057G>A	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	G	1.831	-0.469886	0.04445	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	T;T	0.80304	-1.14;-1.36	5.51	-5.52	0.02560	.	1.359280	0.05144	N	0.494832	T	0.54822	0.1882	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51188	-0.8737	10	0.07325	T	0.83	-2.1166	6.4024	0.21646	0.3471:0.2636:0.3893:0.0	.	353	O43353	RIPK2_HUMAN	K	353;216	ENSP00000220751:E353K;ENSP00000441623:E216K	ENSP00000220751:E353K	E	+	1	0	RIPK2	90867989	0.000000	0.05858	0.000000	0.03702	0.434000	0.31775	-0.178000	0.09782	-1.075000	0.03129	-0.455000	0.05494	GAA		0.318	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			24	112	0	0	0	0	24	112				
KIAA1429	25962	broad.mit.edu	37	8	95538791	95538791	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:95538791C>T	ENST00000297591.5	-	8	1756	c.1681G>A	c.(1681-1683)Gaa>Aaa	p.E561K	KIAA1429_ENST00000437199.1_Missense_Mutation_p.E561K|KIAA1429_ENST00000421249.2_Missense_Mutation_p.E561K	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	561					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GACAAGACTTCATAGAAATGG	0.403																																						uc003ygo.1		NA																	0				ovary(1)|skin(1)	2						c.(1681-1683)GAA>AAA		hypothetical protein LOC25962 isoform 1							116.0	115.0	116.0					8																	95538791		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95538791C>T	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1681G>A	8.37:g.95538791C>T	ENSP00000297591:p.Glu561Lys					KIAA1429_uc003ygp.2_Missense_Mutation_p.E561K|KIAA1429_uc010maz.1_RNA	p.E561K	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		8	1694	-	Breast(36;3.29e-05)		561					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.1681G>A	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075170	0.76415	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.61859	0.07;0.13;0.09	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.57989	0.2091	L	0.34521	1.04	0.80722	D	1	D;D	0.54207	0.965;0.965	P;P	0.47402	0.546;0.546	T	0.60860	-0.7179	10	0.72032	D	0.01	-20.5972	20.3748	0.98911	0.0:1.0:0.0:0.0	.	561;561	Q69YN4-4;Q69YN4	.;VIR_HUMAN	K	561	ENSP00000297591:E561K;ENSP00000395600:E561K;ENSP00000398390:E561K	ENSP00000297591:E561K	E	-	1	0	KIAA1429	95607967	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.410000	0.59774	2.817000	0.96982	0.563000	0.77884	GAA		0.403	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		33	164	0	0	0	0	33	164				
ANKRD46	157567	broad.mit.edu	37	8	101541965	101541965	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:101541965C>T	ENST00000520552.1	-	3	258	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	ANKRD46_ENST00000519316.1_Missense_Mutation_p.E33K|ANKRD46_ENST00000335659.3_Missense_Mutation_p.E33K|ANKRD46_ENST00000519597.1_Missense_Mutation_p.E33K|ANKRD46_ENST00000520311.1_Missense_Mutation_p.E33K	NM_001270379.1	NP_001257308.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	33						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			AAGCCACTTTCCAAAAGCCGC	0.453																																						uc003yjm.2		NA																	0					0						c.(97-99)GAA>AAA		ankyrin repeat domain 46							88.0	81.0	83.0					8																	101541965		2203	4300	6503	SO:0001583	missense	157567					integral to membrane		g.chr8:101541965C>T	AB077205	CCDS6287.1, CCDS59109.1	8q22.3	2013-01-10						"""Ankyrin repeat domain containing"""	27229	protein-coding gene	gene with protein product							Standard	NM_001270377		Approved		uc003yjm.4	Q86W74		ENST00000520552.1:c.97G>A	8.37:g.101541965C>T	ENSP00000429015:p.Glu33Lys					ANKRD46_uc003yjn.1_Missense_Mutation_p.E33K|ANKRD46_uc003yjo.1_Missense_Mutation_p.E33K|ANKRD46_uc003yjp.1_Missense_Mutation_p.E33K	p.E33K	NM_198401	NP_940683	Q86W74	ANR46_HUMAN	Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)		3	301	-	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		33			ANK 1.		Q6P9B7	Missense_Mutation	SNP	ENST00000520552.1	37	c.97G>A	CCDS59109.1	.	.	.	.	.	.	.	.	.	.	C	33	5.262454	0.95368	.	.	ENSG00000186106	ENST00000520552;ENST00000335659;ENST00000519597;ENST00000520311;ENST00000519316;ENST00000358990;ENST00000524072;ENST00000523000;ENST00000521345	T;T;T;T;T;T;T;T;T	0.67171	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.25	5.6	5.6	0.85130	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.71804	0.3383	N	0.16307	0.4	0.80722	D	1	P;D	0.57257	0.927;0.979	P;D	0.74023	0.801;0.982	T	0.74542	-0.3631	10	0.51188	T	0.08	-0.2348	19.6107	0.95606	0.0:1.0:0.0:0.0	.	33;33	Q86W74-2;Q86W74	.;ANR46_HUMAN	K	33	ENSP00000429015:E33K;ENSP00000335287:E33K;ENSP00000430056:E33K;ENSP00000428388:E33K;ENSP00000430827:E33K;ENSP00000351881:E33K;ENSP00000430357:E33K;ENSP00000430800:E33K;ENSP00000429647:E33K	ENSP00000335287:E33K	E	-	1	0	ANKRD46	101611141	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	7.370000	0.79589	2.648000	0.89879	0.655000	0.94253	GAA		0.453	ANKRD46-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379899.1	NM_198401		14	90	0	0	0	0	14	90				
SYBU	55638	broad.mit.edu	37	8	110587410	110587410	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:110587410G>C	ENST00000422135.1	-	8	2232	c.1717C>G	c.(1717-1719)Ctc>Gtc	p.L573V	SYBU_ENST00000276646.9_Missense_Mutation_p.L573V|SYBU_ENST00000440310.1_Missense_Mutation_p.L573V|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000533065.1_Missense_Mutation_p.L454V|SYBU_ENST00000528647.1_Missense_Mutation_p.L572V|SYBU_ENST00000533171.1_Missense_Mutation_p.L573V|SYBU_ENST00000533895.1_Missense_Mutation_p.L572V|SYBU_ENST00000529690.1_Missense_Mutation_p.L443V|SYBU_ENST00000532779.1_Missense_Mutation_p.L505V|SYBU_ENST00000419099.1_Missense_Mutation_p.L572V|SYBU_ENST00000408889.3_Missense_Mutation_p.L454V|SYBU_ENST00000408908.2_Missense_Mutation_p.L573V|SYBU_ENST00000528331.1_Missense_Mutation_p.L454V|SYBU_ENST00000446070.2_Missense_Mutation_p.L572V|SYBU_ENST00000399066.3_Missense_Mutation_p.L570V|SYBU_ENST00000529175.1_Missense_Mutation_p.L367V|SYBU_ENST00000433638.1_Missense_Mutation_p.L573V|SYBU_ENST00000424158.2_Missense_Mutation_p.L578V	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	573					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCTCTCATGAGGCGGTTTGCA	0.547																																						uc003ynj.3		NA																	0				ovary(1)	1						c.(1717-1719)CTC>GTC		Golgi-localized syntaphilin-related protein							54.0	56.0	56.0					8																	110587410		1978	4147	6125	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110587410G>C	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1717C>G	8.37:g.110587410G>C	ENSP00000407118:p.Leu573Val					SYBU_uc003yni.3_Missense_Mutation_p.L570V|SYBU_uc003ynk.3_Missense_Mutation_p.L454V|SYBU_uc010mco.2_Missense_Mutation_p.L572V|SYBU_uc003ynl.3_Missense_Mutation_p.L572V|SYBU_uc010mcp.2_Missense_Mutation_p.L573V|SYBU_uc010mcq.2_Missense_Mutation_p.L573V|SYBU_uc003yno.3_Missense_Mutation_p.L454V|SYBU_uc010mcr.2_Missense_Mutation_p.L573V|SYBU_uc003ynm.3_Missense_Mutation_p.L572V|SYBU_uc003ynn.3_Missense_Mutation_p.L572V|SYBU_uc010mcs.2_Missense_Mutation_p.L454V|SYBU_uc010mct.2_Missense_Mutation_p.L573V|SYBU_uc010mcu.2_Missense_Mutation_p.L572V|SYBU_uc003ynp.3_Missense_Mutation_p.L505V|SYBU_uc010mcv.2_Missense_Mutation_p.L573V|SYBU_uc003ynh.3_Missense_Mutation_p.L367V|SYBU_uc011lhw.1_Missense_Mutation_p.L443V	p.L573V	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN			7	1880	-			573					A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.1717C>G	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.300557	0.01364	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.97	5.06	0.68205	.	0.414726	0.25490	N	0.030307	T	0.28101	0.0693	L	0.33485	1.01	0.22096	N	0.999361	B;B;B;B;B	0.26081	0.018;0.141;0.005;0.004;0.004	B;B;B;B;B	0.22753	0.016;0.041;0.013;0.009;0.009	T	0.12630	-1.0540	9	0.11794	T	0.64	-21.7797	10.3464	0.43909	0.0813:0.2321:0.6866:0.0	.	443;505;572;573;570	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	V	572;578;505;570;572;454;367;573;572;573;572;573;573;573;454;454;443;573	.	ENSP00000276646:L573V	L	-	1	0	SYBU	110656586	0.997000	0.39634	0.981000	0.43875	0.171000	0.22731	3.070000	0.50033	2.837000	0.97791	0.655000	0.94253	CTC		0.547	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		12	69	0	0	0	0	12	69				
CSMD3	114788	broad.mit.edu	37	8	113256689	113256689	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:113256689C>A	ENST00000297405.5	-	65	10580	c.10336G>T	c.(10336-10338)Ggt>Tgt	p.G3446C	CSMD3_ENST00000455883.2_Missense_Mutation_p.G3277C|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3406C|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3376C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3446	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTGTTCCACCTGCTAAGAAG	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(10336-10338)GGT>TGT		CUB and Sushi multiple domains 3 isoform 1							132.0	116.0	122.0					8																	113256689		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113256689C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10336G>T	8.37:g.113256689C>A	ENSP00000297405:p.Gly3446Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G2648C|CSMD3_uc003ynt.2_Missense_Mutation_p.G3406C|CSMD3_uc011lhx.1_Missense_Mutation_p.G3277C	p.G3446C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			65	10495	-			3446			Extracellular (Potential).|Sushi 28.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10336G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771100	0.90108	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75	5.37	5.37	0.77165	Complement control module (2);Sushi/SCR/CCP (3);	0.154736	0.42053	D	0.000780	D	0.92215	0.7531	H	0.98612	4.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	D	0.94772	0.7946	10	0.87932	D	0	.	19.3052	0.94158	0.0:1.0:0.0:0.0	.	3277;3446;3406	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	3406;3446;2716;3277;3376	ENSP00000345799:G3406C;ENSP00000297405:G3446C;ENSP00000341558:G2716C;ENSP00000412263:G3277C;ENSP00000343124:G3376C	ENSP00000297405:G3446C	G	-	1	0	CSMD3	113325865	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.458000	0.80787	2.793000	0.96121	0.591000	0.81541	GGT		0.428	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		17	75	1	0	3.41e-10	4.25e-10	17	75				
FER1L6	654463	broad.mit.edu	37	8	125061872	125061872	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:125061872A>G	ENST00000522917.1	+	22	2955	c.2749A>G	c.(2749-2751)Aca>Gca	p.T917A	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.T917A	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	917	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTGGGTGCCACAGTGGCTGC	0.473																																						uc003yqw.2		NA																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(2749-2751)ACA>GCA		fer-1-like 6							64.0	70.0	68.0					8																	125061872		1944	4159	6103	SO:0001583	missense	654463					integral to membrane		g.chr8:125061872A>G	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2749A>G	8.37:g.125061872A>G	ENSP00000428280:p.Thr917Ala					uc003yqy.1_Intron	p.T917A	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		22	2955	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		917			Cytoplasmic (Potential).|C2 3.			Missense_Mutation	SNP	ENST00000522917.1	37	c.2749A>G	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	A	14.33	2.501978	0.44455	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.64438	-0.1;-0.1	5.91	5.91	0.95273	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	T	0.53206	0.1782	N	0.04820	-0.15	0.80722	D	1	P	0.49447	0.924	P	0.57468	0.821	T	0.52366	-0.8585	10	0.06494	T	0.89	.	16.0098	0.80391	1.0:0.0:0.0:0.0	.	917	Q2WGJ9	FR1L6_HUMAN	A	917	ENSP00000428280:T917A;ENSP00000381982:T917A	ENSP00000381982:T917A	T	+	1	0	FER1L6	125131053	1.000000	0.71417	0.997000	0.53966	0.668000	0.39293	6.773000	0.75006	2.254000	0.74563	0.533000	0.62120	ACA		0.473	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		14	49	0	0	0	0	14	49				
PTP4A3	11156	broad.mit.edu	37	8	142437153	142437153	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:142437153G>T	ENST00000521578.1	+	4	1258	c.313G>T	c.(313-315)Gtg>Ttg	p.V105L	PTP4A3_ENST00000524028.1_Intron|PTP4A3_ENST00000520105.1_Missense_Mutation_p.V105L|PTP4A3_ENST00000329397.1_Missense_Mutation_p.V105L|PTP4A3_ENST00000349124.1_Missense_Mutation_p.V105L			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	105	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			TGTGCACTGCGTGGCGGGCCT	0.682																																						uc003ywg.1		NA																	0					0						c.(313-315)GTG>TTG		protein tyrosine phosphatase type IVA, member 3							55.0	66.0	62.0					8																	142437153		2203	4297	6500	SO:0001583	missense	11156					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr8:142437153G>T	AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365		ENST00000521578.1:c.313G>T	8.37:g.142437153G>T	ENSP00000428976:p.Val105Leu					PTP4A3_uc003ywh.1_Missense_Mutation_p.V105L|PTP4A3_uc010met.1_Intron	p.V105L	NM_032611	NP_116000	O75365	TP4A3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0474)		3	647	+	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		105			Tyrosine-protein phosphatase.		Q8IVN5|Q99849|Q9BTW5	Missense_Mutation	SNP	ENST00000521578.1	37	c.313G>T	CCDS6383.1	.	.	.	.	.	.	.	.	.	.	G	34	5.407505	0.96051	.	.	ENSG00000184489	ENST00000521578;ENST00000520105;ENST00000329397;ENST00000349124	D;T;D;T	0.82893	-1.66;0.7;-1.66;0.7	5.27	5.27	0.74061	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.92254	0.7543	M	0.86343	2.81	0.80722	D	1	D;P	0.76494	0.999;0.461	D;P	0.79784	0.993;0.519	D	0.93335	0.6704	10	0.87932	D	0	-4.1849	17.8229	0.88655	0.0:0.0:1.0:0.0	.	105;105	O75365-2;O75365	.;TP4A3_HUMAN	L	105	ENSP00000428976:V105L;ENSP00000428758:V105L;ENSP00000332274:V105L;ENSP00000331730:V105L	ENSP00000332274:V105L	V	+	1	0	PTP4A3	142506335	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	9.712000	0.98738	2.619000	0.88677	0.561000	0.74099	GTG		0.682	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378977.1	NM_032611		27	147	1	0	8.53e-09	1.03e-08	27	147				
GPAA1	8733	broad.mit.edu	37	8	145140516	145140516	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr8:145140516C>A	ENST00000355091.4	+	11	1613	c.1492C>A	c.(1492-1494)Ctg>Atg	p.L498M	GPAA1_ENST00000361036.6_Missense_Mutation_p.L438M	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	498					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGATGGCACTGAAGCTGGT	0.597																																						uc003zax.2		NA																	0					0						c.(1492-1494)CTG>ATG		glycosylphosphatidylinositol anchor attachment							72.0	82.0	78.0					8																	145140516		2074	4203	6277	SO:0001583	missense	8733				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding	g.chr8:145140516C>A	AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.1492C>A	8.37:g.145140516C>A	ENSP00000347206:p.Leu498Met						p.L498M	NM_003801	NP_003792	O43292	GPAA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		11	1602	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		498			Helical; (Potential).		Q9NSS0|Q9UQ31	Missense_Mutation	SNP	ENST00000355091.4	37	c.1492C>A	CCDS43776.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887000	0.72410	.	.	ENSG00000197858	ENST00000355091;ENST00000361036	.	.	.	4.86	3.98	0.46160	.	0.000000	0.64402	D	0.000002	T	0.71022	0.3291	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71454	-0.4588	9	0.49607	T	0.09	-16.2016	10.5328	0.44986	0.0:0.9064:0.0:0.0936	.	498	O43292	GPAA1_HUMAN	M	498;438	.	ENSP00000347206:L498M	L	+	1	2	GPAA1	145212504	0.995000	0.38212	0.889000	0.34880	0.997000	0.91878	3.245000	0.51407	1.265000	0.44215	0.655000	0.94253	CTG		0.597	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801		30	97	1	0	4.75e-14	6.14e-14	30	97				
TRPM3	80036	broad.mit.edu	37	9	73150933	73150933	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:73150933C>A	ENST00000377110.3	-	25	5303	c.5060G>T	c.(5059-5061)aGc>aTc	p.S1687I	TRPM3_ENST00000377106.1_Missense_Mutation_p.S1559I|TRPM3_ENST00000358082.3_Missense_Mutation_p.S1549I|TRPM3_ENST00000396280.5_Missense_Mutation_p.S1536I|TRPM3_ENST00000357533.2_Missense_Mutation_p.S1691I|TRPM3_ENST00000396285.1_Missense_Mutation_p.S1546I|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1714I|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1549I|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1559I|TRPM3_ENST00000377105.1_Missense_Mutation_p.S1546I|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1546I			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1712					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CATGGACAGGCTGTCCCCTCG	0.522																																						uc004aid.2		NA																	0				ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(5059-5061)AGC>ATC		transient receptor potential cation channel,							123.0	123.0	123.0					9																	73150933		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73150933C>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.5060G>T	9.37:g.73150933C>A	ENSP00000366314:p.Ser1687Ile					TRPM3_uc004ahu.2_Missense_Mutation_p.S1529I|TRPM3_uc004ahv.2_Missense_Mutation_p.S1489I|TRPM3_uc004ahw.2_Missense_Mutation_p.S1559I|TRPM3_uc004ahx.2_Missense_Mutation_p.S1546I|TRPM3_uc004ahy.2_Missense_Mutation_p.S1549I|TRPM3_uc004ahz.2_Missense_Mutation_p.S1536I|TRPM3_uc004aia.2_Missense_Mutation_p.S1534I|TRPM3_uc004aib.2_Missense_Mutation_p.S1524I|TRPM3_uc004aic.2_Intron	p.S1687I	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			25	5304	-			1712			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377110.3	37	c.5060G>T	CCDS43835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.819|9.819	1.185309|1.185309	0.21870|0.21870	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T	.|0.60672	.|0.29;0.2;0.2;0.17;0.28;0.17;0.21;0.2;0.2;0.28	5.77|5.77	4.81|4.81	0.61882|0.61882	.|.	.|0.264926	.|0.42053	.|D	.|0.000769	T|T	0.39410|0.39410	0.1077|0.1077	N|N	0.19112|0.19112	0.55|0.55	0.35973|0.35973	D|D	0.835473|0.835473	.|B;B;B;B;B;B;B	.|0.28324	.|0.104;0.104;0.146;0.019;0.207;0.104;0.063	.|B;B;B;B;B;B;B	.|0.30646	.|0.118;0.082;0.037;0.01;0.082;0.082;0.037	T|T	0.48305|0.48305	-0.9047|-0.9047	5|10	.|0.66056	.|D	.|0.02	-10.838|-10.838	4.5681|4.5681	0.12196|0.12196	0.0:0.5649:0.1632:0.2719|0.0:0.5649:0.1632:0.2719	.|.	.|1687;1677;1691;1549;1546;1659;1546	.|Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.	H|I	1535|1687;1559;1549;1546;1691;1546;1546;1559;1549;1714	.|ENSP00000366314:S1687I;ENSP00000366310:S1559I;ENSP00000354066:S1549I;ENSP00000366309:S1546I;ENSP00000350140:S1691I;ENSP00000386127:S1546I;ENSP00000379581:S1546I;ENSP00000379587:S1559I;ENSP00000350791:S1549I;ENSP00000389542:S1714I	.|ENSP00000350140:S1691I	Q|S	-|-	3|2	2|0	TRPM3|TRPM3	72340753|72340753	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.814000|0.814000	0.46013|0.46013	0.744000|0.744000	0.26245|0.26245	1.298000|1.298000	0.44778|0.44778	0.655000|0.655000	0.94253|0.94253	CAG|AGC		0.522	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		40	72	1	0	2.19e-29	3.02e-29	40	72				
SPATA31E1	286234	broad.mit.edu	37	9	90502529	90502529	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:90502529C>T	ENST00000325643.5	+	4	3193	c.3127C>T	c.(3127-3129)Cca>Tca	p.P1043S		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1043					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGAGAAGCCCCCAACTTGGGA	0.602																																						uc004app.3		NA																	0				ovary(3)	3						c.(3127-3129)CCA>TCA		chromosome 9 open reading frame 79							66.0	66.0	66.0					9																	90502529		2203	4300	6503	SO:0001583	missense	286234					integral to membrane		g.chr9:90502529C>T	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3127C>T	9.37:g.90502529C>T	ENSP00000322640:p.Pro1043Ser						p.P1043S	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	3162	+			1043					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.3127C>T	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	c	9.818	1.185084	0.21870	.	.	ENSG00000177992	ENST00000325643	T	0.05925	3.37	2.97	-1.54	0.08584	.	.	.	.	.	T	0.03915	0.0110	L	0.36672	1.1	0.09310	N	1	B	0.33637	0.42	B	0.32289	0.143	T	0.44034	-0.9354	9	0.13108	T	0.6	.	3.3061	0.07001	0.0:0.3477:0.213:0.4393	.	1043	Q6ZUB1	CI079_HUMAN	S	1043	ENSP00000322640:P1043S	ENSP00000322640:P1043S	P	+	1	0	C9orf79	89692349	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.128000	0.10531	-0.300000	0.08895	-0.302000	0.09304	CCA		0.602	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		9	60	0	0	0	0	9	60				
SPATA31C1	441452	broad.mit.edu	37	9	90537073	90537073	+	RNA	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:90537073C>A	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCAGAGGGCCCCGCGAGGGAT	0.547																																						uc010mqi.2		NA																	0					0						c.(2251-2253)CCG>ACG		family with sequence similarity 75, member C1							13.0	14.0	13.0					9																	90537073		692	1591	2283			441452							g.chr9:90537073C>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90537073C>A						FAM75C1_uc004apq.3_Missense_Mutation_p.P734T	p.P751T	NM_001145124	NP_001138596					4	2280	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.2251C>A																																																																																					0.547	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		9	28	1	0	2.81e-09	3.41e-09	9	28				
ABCA1	19	broad.mit.edu	37	9	107547893	107547893	+	Silent	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:107547893T>C	ENST00000374736.3	-	49	6823	c.6429A>G	c.(6427-6429)gtA>gtG	p.V2143V		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2143	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CTGCTATTCGTACAACTATTG	0.428																																						uc004bcl.2		NA																	0				large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(6427-6429)GTA>GTG		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						71.0	73.0	72.0					9																	107547893		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107547893T>C	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6429A>G	9.37:g.107547893T>C						NIPSNAP3B_uc004bcj.1_Intron	p.V2143V	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	49	6742	-			2143			ABC transporter 2.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.6429A>G	CCDS6762.1																																																																																				0.428	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		11	63	0	0	0	0	11	63				
SVEP1	79987	broad.mit.edu	37	9	113163273	113163273	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:113163273T>C	ENST00000401783.2	-	40	10019	c.9683A>G	c.(9682-9684)gAg>gGg	p.E3228G	SVEP1_ENST00000297826.5_Missense_Mutation_p.E1154G|SVEP1_ENST00000374469.1_Missense_Mutation_p.E3205G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3228	Sushi 30. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAATGGTGGCTCCCAGGTTCC	0.368																																						uc010mtz.2		NA																	0				ovary(7)	7						c.(9682-9684)GAG>GGG		polydom							80.0	78.0	79.0					9																	113163273		1872	4102	5974	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113163273T>C	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9683A>G	9.37:g.113163273T>C	ENSP00000384917:p.Glu3228Gly					SVEP1_uc010mty.2_Missense_Mutation_p.E1154G	p.E3228G	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			40	10020	-			3228			Sushi 30.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.9683A>G	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.645725	0.29246	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.65549	-0.16;-0.16;-0.16	5.77	1.98	0.26296	Complement control module (2);Sushi/SCR/CCP (3);	0.574208	0.19360	N	0.116177	T	0.48132	0.1483	L	0.48986	1.54	0.80722	D	1	B	0.33777	0.425	B	0.31812	0.136	T	0.37056	-0.9722	10	0.49607	T	0.09	.	2.4774	0.04579	0.3875:0.0724:0.1106:0.4294	.	3228	Q4LDE5	SVEP1_HUMAN	G	3228;3205;1154	ENSP00000384917:E3228G;ENSP00000363593:E3205G;ENSP00000297826:E1154G	ENSP00000297826:E1154G	E	-	2	0	SVEP1	112203094	0.981000	0.34729	0.962000	0.40283	0.548000	0.35241	2.202000	0.42743	0.089000	0.17243	-0.282000	0.10007	GAG		0.368	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				14	29	0	0	0	0	14	29				
PAPPA	5069	broad.mit.edu	37	9	119097340	119097340	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:119097340C>A	ENST00000328252.3	+	13	3967	c.3598C>A	c.(3598-3600)Cct>Act	p.P1200T	PAPPA_ENST00000534838.1_Missense_Mutation_p.P238T	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1200					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GACCTACAGCCCTGCCGAGCA	0.617																																						uc004bjn.2		NA																	0				ovary(4)|skin(4)|pancreas(1)	9						c.(3598-3600)CCT>ACT		pregnancy-associated plasma protein A							58.0	54.0	55.0					9																	119097340		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119097340C>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3598C>A	9.37:g.119097340C>A	ENSP00000330658:p.Pro1200Thr					PAPPA_uc011lxp.1_Missense_Mutation_p.P895T|PAPPA_uc011lxq.1_Missense_Mutation_p.P575T	p.P1200T	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			13	3979	+			1200					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.3598C>A	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598306	0.66332	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.03801	4.58;3.8	5.86	3.92	0.45320	.	0.143577	0.64402	D	0.000004	T	0.07458	0.0188	M	0.73598	2.24	0.52501	D	0.999957	B;P	0.37015	0.167;0.578	B;B	0.37047	0.221;0.24	T	0.24870	-1.0148	10	0.25751	T	0.34	-2.884	8.3669	0.32391	0.0:0.7342:0.1633:0.1025	.	238;1200	F5GZ19;Q13219	.;PAPP1_HUMAN	T	1200;238	ENSP00000330658:P1200T;ENSP00000441461:P238T	ENSP00000330658:P1200T	P	+	1	0	PAPPA	118137161	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.441000	0.44864	0.696000	0.31696	0.655000	0.94253	CCT		0.617	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		9	54	1	0	0.00829132	0.00853121	9	54				
COL5A1	1289	broad.mit.edu	37	9	137704317	137704317	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr9:137704317A>G	ENST00000371817.3	+	47	4127	c.3713A>G	c.(3712-3714)gAg>gGg	p.E1238G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1238	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCTCCAGGCGAGAAGGGTGAG	0.527																																						uc004cfe.2		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(3712-3714)GAG>GGG		alpha 1 type V collagen preproprotein							111.0	85.0	94.0					9																	137704317		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137704317A>G	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3713A>G	9.37:g.137704317A>G	ENSP00000360882:p.Glu1238Gly						p.E1238G	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	47	4095	+		Myeloproliferative disorder(178;0.0341)	1238			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.3713A>G	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.541470	0.45280	.	.	ENSG00000130635	ENST00000371817	D	0.93247	-3.19	4.77	4.77	0.60923	.	0.000000	0.85682	U	0.000000	D	0.94820	0.8327	L	0.42008	1.315	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.95349	0.8445	10	0.72032	D	0.01	.	14.2863	0.66247	1.0:0.0:0.0:0.0	.	1238	P20908	CO5A1_HUMAN	G	1238	ENSP00000360882:E1238G	ENSP00000360882:E1238G	E	+	2	0	COL5A1	136844138	1.000000	0.71417	0.953000	0.39169	0.093000	0.18481	9.225000	0.95219	1.786000	0.52430	0.523000	0.50628	GAG		0.527	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		6	40	0	0	0	0	6	40				
FRMPD4	9758	broad.mit.edu	37	X	12734432	12734432	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:12734432T>A	ENST00000380682.1	+	15	2360	c.1854T>A	c.(1852-1854)tgT>tgA	p.C618*		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	618					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						AGGCCCCCTGTGAGGCAGACT	0.532																																						uc004cuz.1		NA																	0				central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						c.(1852-1854)TGT>TGA		FERM and PDZ domain containing 4							78.0	78.0	78.0					X																	12734432		2203	4300	6503	SO:0001587	stop_gained	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12734432T>A	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.1854T>A	X.37:g.12734432T>A	ENSP00000370057:p.Cys618*					FRMPD4_uc011mij.1_Nonsense_Mutation_p.C610*	p.C618*	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			15	2360	+			618					A8K0X9|O15032	Nonsense_Mutation	SNP	ENST00000380682.1	37	c.1854T>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	T	41	9.126180	0.99073	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	.	.	.	5.86	0.84	0.18912	.	0.417032	0.28156	N	0.016382	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	2.8544	0.05568	0.1084:0.3066:0.1098:0.4752	.	.	.	.	X	618;609;607	.	ENSP00000304583:C607X	C	+	3	2	FRMPD4	12644353	0.465000	0.25815	0.553000	0.28255	0.945000	0.59286	-0.630000	0.05502	-0.190000	0.10465	0.486000	0.48141	TGT		0.532	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		47	30	0	0	0	0	47	30				
HUWE1	10075	broad.mit.edu	37	X	53672318	53672318	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:53672318C>G	ENST00000342160.3	-	6	906	c.449G>C	c.(448-450)cGt>cCt	p.R150P	HUWE1_ENST00000262854.6_Missense_Mutation_p.R150P|HUWE1_ENST00000218328.8_Missense_Mutation_p.R150P			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	150					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGATCCCAGACGAGTGATGTA	0.458																																						uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(448-450)CGT>CCT		HECT, UBA and WWE domain containing 1							88.0	72.0	78.0					X																	53672318		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53672318C>G	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.449G>C	X.37:g.53672318C>G	ENSP00000340648:p.Arg150Pro						p.R150P	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			7	851	-			150					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.449G>C	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560191	0.86335	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000432528	T;T;T	0.66280	-0.02;-0.02;-0.2	5.23	5.23	0.72850	Armadillo-like helical (1);E3 ubiquitin ligase, domain of unknown function DUF908 (1);Armadillo-type fold (1);	0.404596	0.24843	N	0.035153	T	0.80565	0.4647	M	0.80616	2.505	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.83595	0.0125	10	0.87932	D	0	.	16.5667	0.84600	0.0:1.0:0.0:0.0	.	150	Q7Z6Z7	HUWE1_HUMAN	P	150	ENSP00000340648:R150P;ENSP00000262854:R150P;ENSP00000218328:R150P	ENSP00000218328:R150P	R	-	2	0	HUWE1	53689043	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.847000	0.75404	2.167000	0.68274	0.600000	0.82982	CGT		0.458	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		16	14	0	0	0	0	16	14				
HEPH	9843	broad.mit.edu	37	X	65480093	65480093	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:65480093T>C	ENST00000343002.2	+	18	3852	c.3188T>C	c.(3187-3189)tTt>tCt	p.F1063S	HEPH_ENST00000419594.1_Missense_Mutation_p.F874S|HEPH_ENST00000441993.2_Missense_Mutation_p.F1066S|HEPH_ENST00000519389.1_Missense_Mutation_p.F1117S|HEPH_ENST00000336279.5_Missense_Mutation_p.F796S|HEPH_ENST00000374727.3_Missense_Mutation_p.F1066S			Q9BQS7	HEPH_HUMAN	hephaestin	1063	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.F1063C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTCACTGTTTTTTCTCGAACA	0.473																																						uc011moz.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	lung(5)|ovary(4)	9						c.(3196-3198)TTT>TCT		hephaestin isoform a							94.0	76.0	82.0					X																	65480093		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65480093T>C	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3188T>C	X.37:g.65480093T>C	ENSP00000343939:p.Phe1063Ser					HEPH_uc004dwn.2_Missense_Mutation_p.F1066S|HEPH_uc004dwo.2_Missense_Mutation_p.F796S|HEPH_uc010nkr.2_Missense_Mutation_p.F874S|HEPH_uc011mpa.1_Missense_Mutation_p.F1066S	p.F1066S	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			19	3257	+			1063			Extracellular (Potential).|Plastocyanin-like 6.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.3197T>C		.	.	.	.	.	.	.	.	.	.	T	16.73	3.203888	0.58234	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99737	-6.59;-6.59;-6.59;-6.59;-6.59;-6.59	4.81	4.81	0.61882	Cupredoxin (2);	0.891873	0.09660	N	0.772529	D	0.97648	0.9229	N	0.01576	-0.805	0.31139	N	0.706799	B;B;B	0.25312	0.004;0.023;0.123	B;B;B	0.35655	0.027;0.122;0.207	D	0.99886	1.1124	10	0.38643	T	0.18	.	10.7601	0.46259	0.0:0.0:0.0:1.0	.	1117;874;1063	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	S	1117;1066;796;1066;874;1063	ENSP00000430620:F1117S;ENSP00000363859:F1066S;ENSP00000337418:F796S;ENSP00000411687:F1066S;ENSP00000413211:F874S;ENSP00000343939:F1063S	ENSP00000337418:F796S	F	+	2	0	HEPH	65396818	0.453000	0.25721	0.055000	0.19348	0.444000	0.32077	5.349000	0.66010	1.770000	0.52166	0.486000	0.48141	TTT		0.473	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		17	12	0	0	0	0	17	12				
ATRX	546	broad.mit.edu	37	X	76907828	76907828	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:76907828C>G	ENST00000373344.5	-	15	4547	c.4333G>C	c.(4333-4335)Gaa>Caa	p.E1445Q	ATRX_ENST00000395603.3_Missense_Mutation_p.E1407Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1445	Poly-Glu.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						tcctcctcttcttcctcAGAA	0.378			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(4333-4335)GAA>CAA		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						60.0	56.0	57.0					X																	76907828		2201	4298	6499	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76907828C>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4333G>C	X.37:g.76907828C>G	ENSP00000362441:p.Glu1445Gln					ATRX_uc004ecq.3_Missense_Mutation_p.E1407Q|ATRX_uc004eco.3_Missense_Mutation_p.E1230Q	p.E1445Q	NM_000489	NP_000480	P46100	ATRX_HUMAN			15	4565	-			1445			Poly-Glu.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.4333G>C	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	c	1.299	-0.605408	0.03717	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.94232	-3.38;-3.38	3.5	3.5	0.40072	.	10.690300	0.00357	U	0.000030	D	0.86439	0.5933	N	0.03608	-0.345	0.80722	D	1	B;B	0.23185	0.081;0.048	B;B	0.28139	0.086;0.039	T	0.69822	-0.5041	10	0.36615	T	0.2	.	9.5578	0.39351	0.0:1.0:0.0:0.0	.	1407;1445	P46100-4;P46100	.;ATRX_HUMAN	Q	1445;1407	ENSP00000362441:E1445Q;ENSP00000378967:E1407Q	ENSP00000362441:E1445Q	E	-	1	0	ATRX	76794484	1.000000	0.71417	0.661000	0.29709	0.120000	0.20174	2.157000	0.42320	1.999000	0.58509	0.591000	0.81541	GAA		0.378	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		22	21	0	0	0	0	22	21				
BEX4	56271	broad.mit.edu	37	X	102471104	102471104	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:102471104C>A	ENST00000372695.5	+	3	258	c.23C>A	c.(22-24)gCg>gAg	p.A8E	BEX4_ENST00000372691.3_Missense_Mutation_p.A8E	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	8						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						GAGGAACTAGCGGCAAACAAT	0.512																																						uc004ejv.3		NA																	0				skin(1)	1						c.(22-24)GCG>GAG		BEX family member 4							37.0	41.0	40.0					X																	102471104		2186	4247	6433	SO:0001583	missense	56271					cytoplasm|nucleus		g.chrX:102471104C>A	AL035494	CCDS35355.1	Xq22.1-q22.3	2014-03-21	2008-11-04	2007-08-24	ENSG00000102409	ENSG00000102409			25475	protein-coding gene	gene with protein product		300692	"""brain expressed X-linked-like 1"", ""BEX family member 4"""	BEXL1		15958283, 16221301	Standard	NM_001080425		Approved	FLJ10097	uc004ejw.4	Q9NWD9	OTTHUMG00000022091	ENST00000372695.5:c.23C>A	X.37:g.102471104C>A	ENSP00000361780:p.Ala8Glu					BEX4_uc004ejw.3_Missense_Mutation_p.A8E	p.A8E	NM_001080425	NP_001073894	Q9NWD9	BEX4_HUMAN			3	258	+			8						Missense_Mutation	SNP	ENST00000372695.5	37	c.23C>A	CCDS35355.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.212922	0.39102	.	.	ENSG00000102409	ENST00000372695;ENST00000372691	T;T	0.09911	2.93;2.93	3.89	-3.9	0.04181	.	1.334320	0.05540	N	0.565569	T	0.10637	0.0260	L	0.59436	1.845	0.09310	N	1	P	0.43094	0.799	B	0.32762	0.152	T	0.35001	-0.9806	10	0.66056	D	0.02	.	11.0074	0.47641	0.0:0.2363:0.0:0.7637	.	8	Q9NWD9	BEX4_HUMAN	E	8	ENSP00000361780:A8E;ENSP00000361776:A8E	ENSP00000361776:A8E	A	+	2	0	BEX4	102357760	0.000000	0.05858	0.000000	0.03702	0.253000	0.25986	-1.136000	0.03222	-1.226000	0.02574	-0.503000	0.04515	GCG		0.512	BEX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057694.1	XM_043653		20	21	1	0	7.21e-19	9.57e-19	20	21				
ACSL4	2182	broad.mit.edu	37	X	108904779	108904779	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:108904779T>C	ENST00000469796.2	-	14	2197	c.1801A>G	c.(1801-1803)Atc>Gtc	p.I601V	ACSL4_ENST00000348502.6_Missense_Mutation_p.I560V|ACSL4_ENST00000340800.2_Missense_Mutation_p.I601V			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	601					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	AAAGCACAGATGTTGTCAATA	0.333																																					Pancreas(188;358 2127 38547 41466 45492)	uc004eoi.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(1801-1803)ATC>GTC		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						163.0	140.0	148.0					X																	108904779		2203	4299	6502	SO:0001583	missense	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108904779T>C	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1801A>G	X.37:g.108904779T>C	ENSP00000419171:p.Ile601Val					ACSL4_uc004eoj.2_Missense_Mutation_p.I560V|ACSL4_uc004eok.2_Missense_Mutation_p.I560V	p.I601V	NM_022977	NP_075266	O60488	ACSL4_HUMAN			15	2306	-			601			Cytoplasmic (Potential).		D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	c.1801A>G	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.138081	0.77775	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.09163	3.01;3.01;3.01	5.12	5.12	0.69794	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.21550	0.0519	L	0.47078	1.49	0.80722	D	1	P	0.41080	0.737	P	0.55303	0.773	T	0.01648	-1.1304	10	0.27082	T	0.32	-12.125	14.2541	0.66040	0.0:0.0:0.0:1.0	.	601	O60488	ACSL4_HUMAN	V	560;601;601	ENSP00000262835:I560V;ENSP00000419171:I601V;ENSP00000339787:I601V	ENSP00000339787:I601V	I	-	1	0	ACSL4	108791435	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.997000	0.88414	1.813000	0.52934	0.412000	0.27726	ATC		0.333	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		22	19	0	0	0	0	22	19				
ALG13	79868	broad.mit.edu	37	X	110951259	110951259	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:110951259C>G	ENST00000394780.3	+	4	400	c.388C>G	c.(388-390)Ctg>Gtg	p.L130V	ALG13_ENST00000251943.4_Missense_Mutation_p.L26V|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	130	Deubiquitinase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						TCACAGGGTCCTGACTTGTCC	0.512																																						uc011msy.1		NA																	0				lung(1)	1						c.(388-390)CTG>GTG		SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);							33.0	27.0	29.0					X																	110951259		1568	3582	5150	SO:0001583	missense	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110951259C>G	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.388C>G	X.37:g.110951259C>G	ENSP00000378260:p.Leu130Val					ALG13_uc011msw.1_Missense_Mutation_p.L52V|ALG13_uc011msx.1_Missense_Mutation_p.L26V|ALG13_uc011msz.1_Missense_Mutation_p.L52V|ALG13_uc011mta.1_Missense_Mutation_p.L26V|ALG13_uc011mtb.1_Missense_Mutation_p.L26V	p.L130V			Q9NP73	ALG13_HUMAN			4	422	+			130					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	ENST00000394780.3	37	c.388C>G	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	C	1.625	-0.520506	0.04171	.	.	ENSG00000101901	ENST00000251943;ENST00000486353;ENST00000394780;ENST00000495283	T;T;T;T	0.79749	1.02;-1.3;-1.3;0.86	4.59	-0.453	0.12201	.	.	.	.	.	T	0.69780	0.3149	L	0.36672	1.1	0.09310	N	1	B;B;B	0.30281	0.275;0.08;0.275	B;B;B	0.30943	0.109;0.122;0.109	T	0.59742	-0.7397	9	0.87932	D	0	.	7.6559	0.28375	0.0:0.4134:0.0:0.5866	.	52;130;26	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	V	26;130;130;26	ENSP00000251943:L26V;ENSP00000426892:L130V;ENSP00000378260:L130V;ENSP00000427093:L26V	ENSP00000251943:L26V	L	+	1	2	ALG13	110837915	0.018000	0.18449	0.000000	0.03702	0.375000	0.29983	0.229000	0.17833	-0.247000	0.09597	-0.192000	0.12808	CTG		0.512	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		7	7	0	0	0	0	7	7				
TRPC5	7224	broad.mit.edu	37	X	111097062	111097062	+	Silent	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:111097062T>A	ENST00000262839.2	-	4	2091	c.1173A>T	c.(1171-1173)acA>acT	p.T391T		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	391					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATGAAGGTCTGTCCTGACAA	0.483																																						uc004epl.1		NA																	0				urinary_tract(1)	1						c.(1171-1173)ACA>ACT		transient receptor potential cation channel,							124.0	107.0	113.0					X																	111097062		2203	4300	6503	SO:0001819	synonymous_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111097062T>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1173A>T	X.37:g.111097062T>A						TRPC5_uc004epm.1_Silent_p.T391T	p.T391T	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			4	2092	-			391			Extracellular (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	37	c.1173A>T	CCDS14561.1																																																																																				0.483	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		46	28	0	0	0	0	46	28				
UBE2NL	389898	broad.mit.edu	37	X	142967322	142967322	+	Silent	SNP	T	T	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:142967322T>A	ENST00000370494.1	+	1	150	c.120T>A	c.(118-120)gcT>gcA	p.A40A		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	40						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTCATTGCTGGGGAATCAA	0.473																																						uc004fca.2		NA																	0					0						c.(118-120)GCT>GCA		ubiquitin-conjugating enzyme E2N-like							95.0	93.0	94.0					X																	142967322		2203	4300	6503	SO:0001819	synonymous_variant	389898						acid-amino acid ligase activity	g.chrX:142967322T>A			Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.120T>A	X.37:g.142967322T>A							p.A40A	NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN			1	150	+	Acute lymphoblastic leukemia(192;6.56e-05)		40					E9KL27	Silent	SNP	ENST00000370494.1	37	c.120T>A	CCDS35420.1																																																																																				0.473	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989		53	35	0	0	0	0	53	35				
ATP2B3	492	broad.mit.edu	37	X	152807330	152807330	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chrX:152807330C>A	ENST00000349466.2	+	4	936	c.610C>A	c.(610-612)Ctc>Atc	p.L204I	ATP2B3_ENST00000370186.1_Missense_Mutation_p.L204I|ATP2B3_ENST00000370181.2_Missense_Mutation_p.L204I|ATP2B3_ENST00000393842.1_Missense_Mutation_p.L204I|ATP2B3_ENST00000359149.3_Missense_Mutation_p.L204I|ATP2B3_ENST00000263519.4_Missense_Mutation_p.L204I			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	204					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGGCAGCTCCTCCAGGTCCC	0.622																																						uc004fht.1		NA																	0				pancreas(1)	1						c.(610-612)CTC>ATC		plasma membrane calcium ATPase 3 isoform 3b							92.0	87.0	89.0					X																	152807330		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152807330C>A	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.610C>A	X.37:g.152807330C>A	ENSP00000343886:p.Leu204Ile					ATP2B3_uc004fhs.1_Missense_Mutation_p.L204I	p.L204I	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			3	736	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		204			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.610C>A	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	C	5.661	0.306630	0.10733	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65;-2.65	5.79	1.48	0.22813	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.291814	0.31102	N	0.008259	T	0.68035	0.2957	N	0.02973	-0.45	0.31675	N	0.643811	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.61407	-0.7069	10	0.02654	T	1	-20.1232	2.8257	0.05484	0.4411:0.2585:0.2134:0.087	.	204;204	Q16720;Q16720-2	AT2B3_HUMAN;.	I	204	ENSP00000359205:L204I;ENSP00000343886:L204I;ENSP00000377425:L204I;ENSP00000352062:L204I;ENSP00000263519:L204I;ENSP00000359200:L204I	ENSP00000263519:L204I	L	+	1	0	ATP2B3	152460524	0.955000	0.32602	0.999000	0.59377	0.993000	0.82548	2.250000	0.43178	0.588000	0.29660	0.600000	0.82982	CTC		0.622	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		61	27	1	0	3.07e-27	4.21e-27	61	27				
AMPD1	270	broad.mit.edu	37	1	115216688	115216688	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:115216688delA	ENST00000520113.2	-	14	1930	c.1915delT	c.(1915-1917)tacfs	p.Y639fs	AMPD1_ENST00000369538.3_Frame_Shift_Del_p.Y635fs|AMPD1_ENST00000353928.6_Frame_Shift_Del_p.Y606fs			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	639					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AAAAACAAGTACTGTAGCACG	0.343																																						uc001efe.1		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(1816-1818)TACfs		adenosine monophosphate deaminase 1 (isoform M)	Adenosine monophosphate(DB00131)						69.0	72.0	71.0					1																	115216688		2203	4300	6503	SO:0001589	frameshift_variant	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115216688delA	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1915delT	1.37:g.115216688delA	ENSP00000430075:p.Tyr639fs					AMPD1_uc001eff.1_Frame_Shift_Del_p.Y602fs	p.Y606fs	NM_000036	NP_000027	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	14	1900	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	606					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Frame_Shift_Del	DEL	ENST00000520113.2	37	c.1816delT	CCDS876.2																																																																																				0.343	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			10	75	NA	NA	NA	NA	10	75	---	---	---	---
KCNN3	3782	broad.mit.edu	37	1	154680586	154680588	+	In_Frame_Del	DEL	GCT	GCT	-	rs149440400		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:154680586_154680588delGCT	ENST00000271915.4	-	8	2375_2377	c.2060_2062delAGC	c.(2059-2064)cagctc>ctc	p.Q687del	KCNN3_ENST00000361147.4_In_Frame_Del_p.Q382del|KCNN3_ENST00000515643.1_5'UTR|KCNN3_ENST00000358505.2_In_Frame_Del_p.Q374del	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	692					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GCAGACAGGAGCTGCTGCTGCTG	0.64																																						uc001ffp.2		NA																	0				lung(1)	1						c.(2059-2064)CAGCTC>CTC		small conductance calcium-activated potassium																																				SO:0001651	inframe_deletion	3782					integral to membrane	calmodulin binding	g.chr1:154680586_154680588delGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.2060_2062delAGC	1.37:g.154680595_154680597delGCT	ENSP00000271915:p.Gln687del					KCNN3_uc001ffo.2_In_Frame_Del_p.Q382del	p.Q687del	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		8	2374_2376	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		692			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Del	DEL	ENST00000271915.4	37	c.2060_2062delAGC	CCDS30880.1																																																																																				0.640	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		7	129	NA	NA	NA	NA	7	129	---	---	---	---
IL19	29949	broad.mit.edu	37	1	207010323	207010323	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr1:207010323delA	ENST00000270218.6	+	4	1104	c.165delA	c.(163-165)ccafs	p.P55fs	IL19_ENST00000340758.2_Frame_Shift_Del_p.P93fs	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	55					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			ACACCTTCCCAAATGTCACTA	0.418																																						uc001hep.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(163-165)CCAfs		interleukin 19 isoform 2 precursor							246.0	214.0	225.0					1																	207010323		2203	4300	6503	SO:0001589	frameshift_variant	29949				apoptosis|immune response|signal transduction	extracellular space	cytokine activity	g.chr1:207010323delA	AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"""Interleukins and interleukin receptors"""	5990	protein-coding gene	gene with protein product	"""melanoma differentiation associated protein-like protein"""	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000270218.6:c.165delA	1.37:g.207010323delA	ENSP00000270218:p.Pro55fs					IL19_uc001heo.2_Frame_Shift_Del_p.P93fs|IL19_uc010prx.1_Frame_Shift_Del_p.P55fs	p.P55fs	NM_013371	NP_037503	Q9UHD0	IL19_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		4	1104	+			55					B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Frame_Shift_Del	DEL	ENST00000270218.6	37	c.165delA	CCDS1469.1																																																																																				0.418	IL19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088567.2	NM_153758		24	176	NA	NA	NA	NA	24	176	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15646284	15646284	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:15646284delC	ENST00000378076.3	-	20	2394	c.2041delG	c.(2041-2043)gaafs	p.E681fs	ITGA8_ENST00000477064.1_5'Flank	NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	681					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TATGCTCCTTCCCCTTCATTT	0.358																																						uc001ioc.1		NA																	0				ovary(3)|lung(3)	6						c.(2041-2043)GAAfs		integrin, alpha 8 precursor							207.0	167.0	180.0					10																	15646284		2203	4299	6502	SO:0001589	frameshift_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15646284delC	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2041delG	10.37:g.15646284delC	ENSP00000367316:p.Glu681fs					ITGA8_uc010qcb.1_Frame_Shift_Del_p.E666fs	p.E681fs	NM_003638	NP_003629	P53708	ITA8_HUMAN			20	2041	-			681			Extracellular (Potential).		B0YJ31|Q5VX94	Frame_Shift_Del	DEL	ENST00000378076.3	37	c.2041delG	CCDS31155.1																																																																																				0.358	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		12	36	NA	NA	NA	NA	12	36	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37508037	37508037	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:37508037delT	ENST00000602533.1	+	34	3328	c.3229delT	c.(3229-3231)tttfs	p.F1077fs	ANKRD30A_ENST00000374660.1_Frame_Shift_Del_p.F1196fs|ANKRD30A_ENST00000361713.1_Frame_Shift_Del_p.F1077fs			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1133					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATAAATACTTTGAGGACAT	0.333																																						uc001iza.1		NA																	0				ovary(7)|breast(1)|skin(1)	9						c.(3229-3231)TTTfs		ankyrin repeat domain 30A							87.0	88.0	87.0					10																	37508037		1815	4063	5878	SO:0001589	frameshift_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508037delT	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3229delT	10.37:g.37508037delT	ENSP00000473551:p.Phe1077fs						p.F1077fs	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			34	3328	+			1133			Potential.		Q5W025	Frame_Shift_Del	DEL	ENST00000602533.1	37	c.3229delT																																																																																					0.333	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		24	96	NA	NA	NA	NA	24	96	---	---	---	---
FAM213A	84293	broad.mit.edu	37	10	82187100	82187100	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr10:82187100delG	ENST00000372181.1	+	4	894	c.424delG	c.(424-426)ggtfs	p.G142fs	FAM213A_ENST00000372185.1_Frame_Shift_Del_p.G131fs|FAM213A_ENST00000372188.1_Frame_Shift_Del_p.G142fs|FAM213A_ENST00000372187.5_Frame_Shift_Del_p.G142fs	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	F213A_HUMAN	family with sequence similarity 213, member A	142					oxidation-reduction process (GO:0055114)|regulation of osteoclast differentiation (GO:0045670)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)										AAAGTTCTATGGTCCACAAAG	0.493																																						uc001kcc.3		NA																	0					0						c.(424-426)GGTfs		hypothetical protein LOC84293 precursor							118.0	113.0	114.0					10																	82187100		2203	4300	6503	SO:0001589	frameshift_variant	84293					extracellular region		g.chr10:82187100delG	AF086462	CCDS7368.1, CCDS58089.1	10q23.1	2011-12-08	2011-12-08	2011-12-08	ENSG00000122378	ENSG00000122378			28651	protein-coding gene	gene with protein product	"""peroxiredoxin-like 2 activated in M-CSF stimulated monocytes"""		"""chromosome 10 open reading frame 58"""	C10orf58		11483580, 19951071	Standard	NM_032333		Approved	MGC4248, PAMM	uc001kce.4	Q9BRX8	OTTHUMG00000018614	ENST00000372181.1:c.424delG	10.37:g.82187100delG	ENSP00000361254:p.Gly142fs					C10orf58_uc001kcd.3_Frame_Shift_Del_p.G131fs|C10orf58_uc001kce.3_Frame_Shift_Del_p.G142fs|C10orf58_uc001kcf.3_Frame_Shift_Del_p.G142fs	p.G142fs	NM_032333	NP_115709	Q9BRX8	CJ058_HUMAN	Colorectal(32;0.229)		5	584	+			142					B2RD81|Q6UW08|Q8N2K3|Q8NBK9|Q96JR0	Frame_Shift_Del	DEL	ENST00000372181.1	37	c.424delG	CCDS7368.1																																																																																				0.493	FAM213A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049077.2			36	116	NA	NA	NA	NA	36	116	---	---	---	---
ERBB3	2065	broad.mit.edu	37	12	56490314	56490319	+	In_Frame_Del	DEL	AAGGCT	AAGGCT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr12:56490314_56490319delAAGGCT	ENST00000267101.3	+	18	2523_2528	c.2083_2088delAAGGCT	c.(2083-2088)aaggctdel	p.KA695del	ERBB3_ENST00000450146.2_In_Frame_Del_p.KA52del|ERBB3_ENST00000415288.2_In_Frame_Del_p.KA636del|ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000553131.1_5'UTR	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	695					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCCCAGTGAGAAGGCTAACAAAGTCT	0.51																																						uc001sjh.2		NA																	0				lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(2083-2088)AAGGCTdel		erbB-3 isoform 1 precursor																																				SO:0001651	inframe_deletion	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56490314_56490319delAAGGCT	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2083_2088delAAGGCT	12.37:g.56490314_56490319delAAGGCT	ENSP00000267101:p.Lys695_Ala696del					ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_In_Frame_Del_p.KA52del|ERBB3_uc010sqc.1_In_Frame_Del_p.KA636del|ERBB3_uc009zok.2_Splice_Site_p.K137_splice|ERBB3_uc001sjk.2_5'UTR	p.KA695del	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		18	2276_2281	+			695_696			Cytoplasmic (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	In_Frame_Del	DEL	ENST00000267101.3	37	c.2083_2088delAAGGCT	CCDS31833.1																																																																																				0.510	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			48	163	NA	NA	NA	NA	48	163	---	---	---	---
ADCY4	196883	broad.mit.edu	37	14	24788954	24788954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:24788954delA	ENST00000310677.4	-	22	2840	c.2727delT	c.(2725-2727)tttfs	p.F909fs	ADCY4_ENST00000418030.2_Frame_Shift_Del_p.F909fs|ADCY4_ENST00000554068.2_Frame_Shift_Del_p.F909fs	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	909					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TCACCTCATCAAAATCAGCAA	0.453																																						uc001wov.2		NA																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(2725-2727)TTTfs		adenylate cyclase 4							95.0	90.0	92.0					14																	24788954		2203	4300	6503	SO:0001589	frameshift_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24788954delA	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2727delT	14.37:g.24788954delA	ENSP00000312126:p.Phe909fs					ADCY4_uc001wow.2_Frame_Shift_Del_p.F909fs|ADCY4_uc010toh.1_Frame_Shift_Del_p.F595fs|ADCY4_uc001wox.2_Frame_Shift_Del_p.F909fs|ADCY4_uc001woy.2_Frame_Shift_Del_p.F909fs	p.F909fs	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	21	2733	-			909			Cytoplasmic (Potential).		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Frame_Shift_Del	DEL	ENST00000310677.4	37	c.2727delT	CCDS9627.1																																																																																				0.453	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			27	52	NA	NA	NA	NA	27	52	---	---	---	---
TMX1	81542	broad.mit.edu	37	14	51713848	51713858	+	Frame_Shift_Del	DEL	GGACTAAGAAG	GGACTAAGAAG	-	rs560514277|rs199971564		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr14:51713848_51713858delGGACTAAGAAG	ENST00000457354.2	+	4	478_488	c.353_363delGGACTAAGAAG	c.(352-363)aggactaagaagfs	p.RTKK118fs	SNORA70_ENST00000364506.1_RNA	NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	118	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide isomerase activity (GO:0003756)			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						CAGGGTCCAAGGACTAAGAAGGACTTCATAA	0.351																																						uc001wza.3		NA																	0					0						c.(352-363)AGGACTAAGAAGfs		thioredoxin domain containing 1 precursor																																				SO:0001589	frameshift_variant	81542				anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity	g.chr14:51713848_51713858delGGACTAAGAAG	AB048246	CCDS41953.1	14q22.1	2011-10-19	2009-02-23	2009-02-23				"""Protein disulfide isomerases"""	15487	protein-coding gene	gene with protein product	"""thioredoxin-related transmembrane protein"", ""protein disulfide isomerase family A, member 11"""	610527	"""thioredoxin domain-containing"", ""thioredoxin domain containing"", ""thioredoxin domain containing 1"""	TXNDC, TXNDC1		11152479	Standard	NM_030755		Approved	TMX, PDIA11	uc001wza.4	Q9H3N1		ENST00000457354.2:c.353_363delGGACTAAGAAG	14.37:g.51713848_51713858delGGACTAAGAAG	ENSP00000393316:p.Arg118fs					TMX1_uc010aoa.2_Frame_Shift_Del_p.R34fs	p.R118fs	NM_030755	NP_110382	Q9H3N1	TMX1_HUMAN			4	478_488	+			118_121			Thioredoxin.|Extracellular (Potential).		B2R7A4|Q8N487|Q8NBN5|Q9Y4T6	Frame_Shift_Del	DEL	ENST00000457354.2	37	c.353_363delGGACTAAGAAG	CCDS41953.1																																																																																				0.351	TMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411206.1	NM_030755		8	95	NA	NA	NA	NA	8	95	---	---	---	---
SLC9A5	6553	broad.mit.edu	37	16	67289038	67289043	+	In_Frame_Del	DEL	TCTTTA	TCTTTA	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr16:67289038_67289043delTCTTTA	ENST00000299798.11	+	3	670_675	c.605_610delTCTTTA	c.(604-612)ctctttatc>ctc	p.FI203del	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	203					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AATGAGACTCTCTTTATCATCGTCTT	0.583																																						uc002esm.2		NA																	0				ovary(1)|pancreas(1)	2						c.(604-612)CTCTTTATC>CTC		solute carrier family 9 (sodium/hydrogen																																				SO:0001651	inframe_deletion	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67289038_67289043delTCTTTA		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.605_610delTCTTTA	16.37:g.67289038_67289043delTCTTTA	ENSP00000299798:p.Phe203_Ile204del					SLC9A5_uc010cee.2_5'UTR|SLC9A5_uc010vji.1_5'UTR	p.FI203del	NM_004594	NP_004585	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	3	668_673	+		Ovarian(137;0.0563)	203_204			Helical; (Potential).		A5PKY7|Q9Y626	In_Frame_Del	DEL	ENST00000299798.11	37	c.605_610delTCTTTA	CCDS42178.1																																																																																				0.583	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			7	95	NA	NA	NA	NA	7	95	---	---	---	---
MYO19	80179	broad.mit.edu	37	17	34852240	34852241	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:34852240_34852241delTT	ENST00000431794.3	-	26	3289_3290	c.2767_2768delAA	c.(2767-2769)aagfs	p.K923fs	ZNHIT3_ENST00000588253.1_Intron|ZNHIT3_ENST00000592616.1_Intron|ZNHIT3_ENST00000590858.1_Intron|MYO19_ENST00000268852.9_Frame_Shift_Del_p.K723fs	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	923	Mitochondrial targeting.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCAGTGAAACTTTATCGATCCC	0.495																																						uc010wcy.1		NA																	0				ovary(1)	1						c.(2767-2769)AAGfs		myosin XIX isoform 2																																				SO:0001589	frameshift_variant	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34852240_34852241delTT	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2767_2768delAA	17.37:g.34852240_34852241delTT	ENSP00000409936:p.Lys923fs					MYO19_uc002hmw.2_Frame_Shift_Del_p.K723fs|MYO19_uc010cuu.2_RNA|ZNHIT3_uc010cut.1_Intron	p.K923fs	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	27	3759_3760	-		Breast(25;0.00957)|Ovarian(249;0.17)	923			Mitochondrial targeting.		Q59GS4|Q9H5X2	Frame_Shift_Del	DEL	ENST00000431794.3	37	c.2767_2768delAA	CCDS54112.1																																																																																				0.495	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		10	44	NA	NA	NA	NA	10	44	---	---	---	---
FSCN2	25794	broad.mit.edu	37	17	79503253	79503255	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr17:79503253_79503255delGAA	ENST00000417245.2	+	3	1201_1203	c.1065_1067delGAA	c.(1063-1068)atgaag>atg	p.K357del	FSCN2_ENST00000334850.7_In_Frame_Del_p.K357del	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	357					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACGTGTGCATGAAGAAGAATGGG	0.601																																						uc010wup.1		NA																	0					0						c.(1063-1068)ATGAAG>ATG		fascin 2 isoform 1			,	1,3983		0,1,1991					,	3.5	1.0			65	2,8040		0,2,4019	no	coding,coding	FSCN2	NM_012418.3,NM_001077182.2	,	0,3,6010	A1A1,A1R,RR		0.0249,0.0251,0.0249	,	,		3,12023				SO:0001651	inframe_deletion	25794				actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging	g.chr17:79503253_79503255delGAA	AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"""Fascins"""	3960	protein-coding gene	gene with protein product		607643	"""fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)"", ""fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"""			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.1065_1067delGAA	17.37:g.79503259_79503261delGAA	ENSP00000388716:p.Lys357del					FSCN2_uc010wuo.1_In_Frame_Del_p.K357del	p.K357del	NM_012418	NP_036550	O14926	FSCN2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		3	1206_1208	+	all_neural(118;0.0878)|Melanoma(429;0.242)		357					A0AVC4|A8MRA6	In_Frame_Del	DEL	ENST00000417245.2	37	c.1065_1067delGAA	CCDS45811.1																																																																																				0.601	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394746.1	NM_012418		5	5	NA	NA	NA	NA	5	5	---	---	---	---
SMCHD1	23347	broad.mit.edu	37	18	2703849	2703852	+	Frame_Shift_Del	DEL	GAAT	GAAT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr18:2703849_2703852delGAAT	ENST00000320876.6	+	13	2145_2148	c.1807_1810delGAAT	c.(1807-1812)gaatggfs	p.EW603fs	SMCHD1_ENST00000261598.8_Frame_Shift_Del_p.EW603fs|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	603					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						TGCAGCAATAGAATGGGATGGAAA	0.319																																						uc002klm.3		NA																	0					0						c.(1807-1812)GAATGGfs		structural maintenance of chromosomes flexible																																				SO:0001589	frameshift_variant	23347				chromosome organization		ATP binding	g.chr18:2703849_2703852delGAAT	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.1807_1810delGAAT	18.37:g.2703849_2703852delGAAT	ENSP00000326603:p.Glu603fs					SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_5'Flank	p.E603fs	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			13	1996_1999	+			603_604					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Frame_Shift_Del	DEL	ENST00000320876.6	37	c.1807_1810delGAAT	CCDS45822.1																																																																																				0.319	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			12	83	NA	NA	NA	NA	12	83	---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15271836	15271836	+	Frame_Shift_Del	DEL	G	G	-	rs200415679		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:15271836delG	ENST00000263388.2	-	33	6678	c.6603delC	c.(6601-6603)cccfs	p.P2201fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2201					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCGGGGAGACGGGGGTCCCTG	0.741																																						uc002nan.2		NA																	0				lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(6601-6603)CCCfs		Notch homolog 3 precursor							3.0	5.0	4.0					19																	15271836		1884	3883	5767	SO:0001589	frameshift_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15271836delG	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6603delC	19.37:g.15271836delG	ENSP00000263388:p.Pro2201fs						p.P2201fs	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		33	6679	-			2201			Cytoplasmic (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Frame_Shift_Del	DEL	ENST00000263388.2	37	c.6603delC	CCDS12326.1																																																																																				0.741	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		2	4	NA	NA	NA	NA	2	4	---	---	---	---
ZNF211	10520	broad.mit.edu	37	19	58152339	58152340	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr19:58152339_58152340delCT	ENST00000347302.3	+	3	664_665	c.485_486delCT	c.(484-486)cctfs	p.P162fs	ZNF211_ENST00000420680.1_Frame_Shift_Del_p.P166fs|ZNF211_ENST00000544273.1_Frame_Shift_Del_p.P174fs|ZNF211_ENST00000299871.5_Frame_Shift_Del_p.P227fs|ZNF211_ENST00000541801.1_Frame_Shift_Del_p.P153fs|ZNF211_ENST00000391703.3_Frame_Shift_Del_p.P101fs|ZNF211_ENST00000240731.4_Frame_Shift_Del_p.P175fs|ZNF211_ENST00000254182.7_Frame_Shift_Del_p.P153fs	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	162					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(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACAGAGGCACCTTTCAGAAGTT	0.47																																						uc002qpq.2		NA																	0				ovary(2)	2						c.(484-486)CCTfs		zinc finger protein 211 isoform 2																																				SO:0001589	frameshift_variant	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58152339_58152340delCT	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.485_486delCT	19.37:g.58152339_58152340delCT	ENSP00000339562:p.Pro162fs					ZNF211_uc010yhb.1_Frame_Shift_Del_p.P166fs|ZNF211_uc002qpp.2_Frame_Shift_Del_p.P175fs|ZNF211_uc002qpr.2_Frame_Shift_Del_p.P226fs|ZNF211_uc002qps.2_Frame_Shift_Del_p.P227fs|ZNF211_uc002qpt.2_Frame_Shift_Del_p.P174fs|ZNF211_uc010yhc.1_Frame_Shift_Del_p.P174fs|ZNF211_uc010yhd.1_Frame_Shift_Del_p.P101fs|ZNF211_uc010yhe.1_Frame_Shift_Del_p.P153fs	p.P162fs	NM_198855	NP_942152	Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	665_666	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	162					B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Frame_Shift_Del	DEL	ENST00000347302.3	37	c.485_486delCT	CCDS12957.1																																																																																				0.470	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			25	58	NA	NA	NA	NA	25	58	---	---	---	---
RNF181	51255	broad.mit.edu	37	2	85824002	85824006	+	Frame_Shift_Del	DEL	TGCCT	TGCCT	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:85824002_85824006delTGCCT	ENST00000306368.4	+	3	305_309	c.275_279delTGCCT	c.(274-279)atgcctfs	p.MP92fs	RNF181_ENST00000441634.1_Frame_Shift_Del_p.MP92fs	NM_016494.3	NP_057578.1	Q9P0P0	RN181_HUMAN	ring finger protein 181	92					protein autoubiquitination (GO:0051865)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)|stomach(1)	2						GCCATTGAGATGCCTTGCCATCACC	0.532																																						uc002spv.1		NA																	0					0						c.(274-279)ATGCCTfs		ring finger protein 181																																				SO:0001589	frameshift_variant	51255						ligase activity|zinc ion binding	g.chr2:85824002_85824006delTGCCT	AF151072	CCDS1981.1	2p11.2	2013-01-09			ENSG00000168894	ENSG00000168894		"""RING-type (C3HC4) zinc fingers"""	28037	protein-coding gene	gene with protein product		612490				11042152	Standard	XM_005264359		Approved	HSPC238	uc002spv.1	Q9P0P0	OTTHUMG00000130182	ENST00000306368.4:c.275_279delTGCCT	2.37:g.85824002_85824006delTGCCT	ENSP00000306906:p.Met92fs						p.M92fs	NM_016494	NP_057578	Q9P0P0	RN181_HUMAN			3	325_329	+			92_93			RING-type; atypical.		Q53H81	Frame_Shift_Del	DEL	ENST00000306368.4	37	c.275_279delTGCCT	CCDS1981.1																																																																																				0.532	RNF181-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252500.1	NM_016494		15	194	NA	NA	NA	NA	15	194	---	---	---	---
ALPP	250	broad.mit.edu	37	2	233243704	233243716	+	Frame_Shift_Del	DEL	TGGAACCGCGAGG	TGGAACCGCGAGG	-	rs113323105|rs61747708	byFrequency	TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr2:233243704_233243716delTGGAACCGCGAGG	ENST00000392027.2	+	2	369_381	c.100_112delTGGAACCGCGAGG	c.(100-114)tggaaccgcgaggcafs	p.WNREA34fs	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	34					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CCCGGACTTCTGGAACCGCGAGGCAGCCGAGGC	0.634																																						uc002vsq.2		NA																	0				ovary(1)	1						c.(100-114)TGGAACCGCGAGGCAfs		placental alkaline phosphatase preproprotein																																				SO:0001589	frameshift_variant	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233243704_233243716delTGGAACCGCGAGG	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.100_112delTGGAACCGCGAGG	2.37:g.233243704_233243716delTGGAACCGCGAGG	ENSP00000375881:p.Trp34fs					ALPP_uc002vsr.2_5'Flank	p.W34fs	NM_001632	NP_001623	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	2	265_277	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	34_38					P05188|P06861|Q53S78|Q96DB7	Frame_Shift_Del	DEL	ENST00000392027.2	37	c.100_112delTGGAACCGCGAGG	CCDS2490.1																																																																																				0.634	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		11	96	NA	NA	NA	NA	11	96	---	---	---	---
CHEK2	11200	broad.mit.edu	37	22	29095857	29095867	+	Frame_Shift_Del	DEL	AGCTTGCAGGT	AGCTTGCAGGT	-	rs587780193		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr22:29095857_29095867delAGCTTGCAGGT	ENST00000405598.1	-	10	1158_1168	c.967_977delACCTGCAAGCT	c.(967-978)acctgcaagctcfs	p.TCKL323fs	CHEK2_ENST00000382580.2_Frame_Shift_Del_p.TCKL366fs|CHEK2_ENST00000328354.6_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000382578.1_Frame_Shift_Del_p.TCKL232fs|CHEK2_ENST00000544772.1_Frame_Shift_Del_p.TCKL102fs|CHEK2_ENST00000402731.1_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000348295.3_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Frame_Shift_Del_p.TCKL323fs|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Frame_Shift_Del_p.TCKL232fs			O96017	CHK2_HUMAN	checkpoint kinase 2	323	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		T -> P (in prostate cancer; somatic mutation). {ECO:0000269|PubMed:12533788}.		cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GTAAAAATAGAGCTTGCAGGTAGCTTCTTTC	0.464			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1		NA	yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			0				central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20	GRCh37	CM030425	CHEK2	M		c.(967-978)ACCTGCAAGCTCfs	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a																																				SO:0001589	frameshift_variant	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29095857_29095867delAGCTTGCAGGT	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.967_977delACCTGCAAGCT	22.37:g.29095857_29095867delAGCTTGCAGGT	ENSP00000386087:p.Thr323fs					CHEK2_uc003ads.1_Frame_Shift_Del_p.T102fs|CHEK2_uc010gvh.1_Frame_Shift_Del_p.T232fs|CHEK2_uc010gvi.1_Frame_Shift_Del_p.T323fs|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Frame_Shift_Del_p.T366fs|CHEK2_uc003adv.1_Frame_Shift_Del_p.T323fs|CHEK2_uc003adw.1_Frame_Shift_Del_p.T323fs|CHEK2_uc003adx.1_Frame_Shift_Del_p.T102fs|CHEK2_uc003ady.1_Frame_Shift_Del_p.T323fs|CHEK2_uc003adz.1_Frame_Shift_Del_p.T127fs	p.T323fs	NM_007194	NP_009125	O96017	CHK2_HUMAN			9	1039_1049	-			323_326			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Frame_Shift_Del	DEL	ENST00000405598.1	37	c.967_977delACCTGCAAGCT	CCDS13843.1																																																																																				0.464	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		48	124	NA	NA	NA	NA	48	124	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26988405	26988405	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr5:26988405delC	ENST00000231021.4	-	2	208	c.36delG	c.(34-36)tggfs	p.W12fs		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	12					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						ACATATAGGTCCAGATGAATA	0.348																																					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.(34-36)TGGfs		cadherin 9, type 2 preproprotein							134.0	139.0	137.0					5																	26988405		2203	4300	6503	SO:0001589	frameshift_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26988405delC	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.36delG	5.37:g.26988405delC	ENSP00000231021:p.Trp12fs					CDH9_uc010iug.2_Frame_Shift_Del_p.W12fs	p.W12fs	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			2	205	-			12					Q3B7I5	Frame_Shift_Del	DEL	ENST00000231021.4	37	c.36delG	CCDS3893.1																																																																																				0.348	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		7	84	NA	NA	NA	NA	7	84	---	---	---	---
LIN28B	389421	broad.mit.edu	37	6	105474345	105474346	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr6:105474345_105474346insA	ENST00000345080.4	+	3	574_575	c.371_372insA	c.(370-375)ccaaagfs	p.PK124fs		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	124					miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				AAAAGAAAACCAAAGGGAGATA	0.376																																						uc003pqv.1		NA																	0					0						c.(370-372)CCAfs		lin-28 homolog B																																				SO:0001589	frameshift_variant	389421				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr6:105474345_105474346insA	AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.374dupA	6.37:g.105474348_105474348dupA	ENSP00000344401:p.Pro124fs					LIN28B_uc010kda.1_Frame_Shift_Ins_p.P84fs	p.P124fs	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN			3	574_575	+		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)	124					A1L165|B2RPN6|Q5TCM4	Frame_Shift_Ins	INS	ENST00000345080.4	37	c.371_372insA	CCDS34504.1																																																																																				0.376	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041646.2	NM_001004317		25	83	NA	NA	NA	NA	25	83	---	---	---	---
EPHA1	2041	broad.mit.edu	37	7	143095840	143095841	+	Frame_Shift_Ins	INS	-	-	G	rs143087087|rs375682369		TCGA-CV-7440-01A-11D-2129-08	TCGA-CV-7440-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	901c2ed5-8348-4dd9-a84c-6c0b18d6525e	10c383d7-07ab-4de5-b6e3-e19dd22e0d47	g.chr7:143095840_143095841insG	ENST00000275815.3	-	6	1275_1276	c.1189_1190insC	c.(1189-1191)cggfs	p.R397fs		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	397	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GGTGAGCCCCCGGGCCCCCGGC	0.614																																						uc003wcz.2		NA																	0				ovary(3)|lung(1)|breast(1)	5						c.(1189-1191)CGGfs		ephrin receptor EphA1 precursor																																				SO:0001589	frameshift_variant	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143095840_143095841insG	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1190dupC	7.37:g.143095843_143095843dupG	ENSP00000275815:p.Arg397fs						p.R397fs	NM_005232	NP_005223	P21709	EPHA1_HUMAN			6	1276_1277	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	397			Extracellular (Potential).|Fibronectin type-III 1.		A1L3V3|B5A966|B5A967|Q15405	Frame_Shift_Ins	INS	ENST00000275815.3	37	c.1189_1190insC	CCDS5884.1																																																																																				0.614	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			13	41	NA	NA	NA	NA	13	41	---	---	---	---
