#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
CHD5	26038	broad.mit.edu	37	1	6181182	6181182	+	Missense_Mutation	SNP	G	G	A	rs201640978	byFrequency	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:6181182G>A	ENST00000262450.3	-	33	4994	c.4895C>T	c.(4894-4896)cCg>cTg	p.P1632L	CHD5_ENST00000378021.1_Missense_Mutation_p.P489L	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CAGCTGCTCCGGGGAGGGCGG	0.652													G|||	2	0.000399361	0.0	0.0014	5008	,	,		15078	0.0		0.001	False		,,,				2504	0.0					uc001amb.2																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(4894-4896)cCg>cTg		Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.							22.0	27.0	25.0					1																	6181182		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6181182G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.4895C>T	1.37:g.6181182G>A	ENSP00000262450:p.Pro1632Leu					CHD5_uc001alz.2_Missense_Mutation_p.P489L|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	p.P1632L	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	32	5006	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1632					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.4895C>T	CCDS57.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	g	12.62	1.992332	0.35131	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	D;T	0.90504	-2.68;2.27	4.78	4.78	0.61160	.	0.000000	0.64402	U	0.000002	T	0.81312	0.4796	N	0.19112	0.55	0.49299	D	0.99977	P;P	0.39404	0.524;0.672	B;B	0.20184	0.019;0.028	D	0.84130	0.0411	10	0.52906	T	0.07	-26.9676	17.2033	0.86912	0.0:0.0:1.0:0.0	.	1632;489	Q8TDI0;Q5TG85	CHD5_HUMAN;.	L	1632;489;1040;1040;489	ENSP00000262450:P1632L;ENSP00000367260:P489L	ENSP00000262450:P1632L	P	-	2	0	CHD5	6103769	0.084000	0.21492	0.997000	0.53966	0.043000	0.13939	1.671000	0.37513	2.370000	0.80446	0.472000	0.43445	CCG		0.652	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
PIK3CD	5293	broad.mit.edu	37	1	9713992	9713992	+	Intron	SNP	G	G	A	rs539332888		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:9713992G>A	ENST00000377346.4	+	1	58				PIK3CD_ENST00000536656.1_Intron|C1orf200_ENST00000377320.3_Missense_Mutation_p.R117C	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta						adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|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)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.R117C(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	Ggctgagagcggtagctcata	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16745	0.0		0.0	False		,,,				2504	0.0					uc001aqc.4																			1	Substitution - Missense(1)	p.R117C(2)	lung(1)	endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)	9						c.(349-351)Cgc>Tgc		Homo sapiens chromosome 1 open reading frame 200 (C1orf200), non-coding RNA.							37.0	41.0	40.0					1																	9713992		1958	4161	6119	SO:0001627	intron_variant	644997							g.chr1:9713992G>A		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.-138+2132G>A	1.37:g.9713992G>A						PIK3CD_uc001aqa.2_Intron|PIK3CD_uc001aqb.4_Intron	p.R117C						UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)	1	499	-	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)						A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.349C>T	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	5.152	0.213666	0.09810	.	.	ENSG00000179840	ENST00000377320	T	0.01240	5.12	1.11	-2.21	0.06973	.	.	.	.	.	T	0.01254	0.0041	.	.	.	0.09310	N	1	D	0.71674	0.998	B	0.44044	0.439	T	0.37197	-0.9716	8	0.44086	T	0.13	.	0.3577	0.00359	0.2039:0.2461:0.3026:0.2474	.	117	Q5SR53	CA200_HUMAN	C	117	ENSP00000366537:R117C	ENSP00000366537:R117C	R	-	1	0	C1orf200	9636579	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.211000	0.17474	-1.176000	0.02747	-0.499000	0.04595	CGC		0.532	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026	
RORC	6097	broad.mit.edu	37	1	151789268	151789268	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:151789268C>T	ENST00000318247.6	-	4	277	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	RORC_ENST00000356728.6_Missense_Mutation_p.R36Q|RORC_ENST00000480719.1_5'Flank|RORC_ENST00000392697.3_Missense_Mutation_p.R111Q	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	57					adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCGCTGGCTCCGGCGGAAGAA	0.637																																						uc001ezh.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(169-171)cGg>cAg		Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.							32.0	27.0	29.0					1																	151789268		2199	4298	6497	SO:0001583	missense	6097				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151789268C>T	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.170G>A	1.37:g.151789268C>T	ENSP00000327025:p.Arg57Gln					RORC_uc001ezg.3_Missense_Mutation_p.R36Q|RORC_uc010pdo.2_Missense_Mutation_p.R111Q|RORC_uc010pdp.2_Missense_Mutation_p.R57Q	p.R57Q	NM_005060	NP_005051	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	278	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		57					Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	c.170G>A	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	C	35	5.454104	0.96223	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.98958	-5.27;-5.27;-5.27	5.24	5.24	0.73138	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.64402	U	0.000009	D	0.99594	0.9853	H	0.99182	4.46	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.97612	1.0130	10	0.87932	D	0	.	16.3321	0.83039	0.0:1.0:0.0:0.0	.	57;111;57;36	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	Q	36;111;57	ENSP00000349164:R36Q;ENSP00000376461:R111Q;ENSP00000327025:R57Q	ENSP00000327025:R57Q	R	-	2	0	RORC	150055892	0.999000	0.42202	0.997000	0.53966	0.864000	0.49448	7.813000	0.86123	2.436000	0.82500	0.563000	0.77884	CGG		0.637	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1		
RPTN	126638	broad.mit.edu	37	1	152127687	152127687	+	Missense_Mutation	SNP	G	G	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:152127687G>T	ENST00000316073.3	-	3	1952	c.1888C>A	c.(1888-1890)Caa>Aaa	p.Q630K		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	630	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCCTGGTTTTGGTACCCTTCC	0.498																																						uc001ezs.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1888-1890)Caa>Aaa		Homo sapiens repetin (RPTN), mRNA.							229.0	193.0	204.0					1																	152127687		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127687G>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1888C>A	1.37:g.152127687G>T	ENSP00000317895:p.Gln630Lys						p.Q630K	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			2	1953	-			630			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1888C>A	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	G	3.654	-0.070856	0.07228	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.12672	2.66	4.06	1.98	0.26296	.	.	.	.	.	T	0.02848	0.0085	L	0.43152	1.355	0.09310	N	1	B	0.30406	0.278	B	0.27887	0.084	T	0.40421	-0.9564	9	0.06757	T	0.87	-0.2415	9.2482	0.37539	0.0:0.0:0.4617:0.5383	.	630	Q6XPR3	RPTN_HUMAN	K	630;285	ENSP00000317895:Q630K	ENSP00000317895:Q630K	Q	-	1	0	RPTN	150394311	0.000000	0.05858	0.001000	0.08648	0.084000	0.17831	0.632000	0.24583	0.943000	0.37553	-0.234000	0.12200	CAA		0.498	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312	
HMCN1	83872	broad.mit.edu	37	1	185958748	185958748	+	Silent	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:185958748C>T	ENST00000271588.4	+	21	3406	c.3177C>T	c.(3175-3177)taC>taT	p.Y1059Y	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.Y1059Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1059	Ig-like C2-type 7.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGCCGGCTACGCCAAAAGGA	0.483																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(3175-3177)taC>taT		Homo sapiens hemicentin 1 (HMCN1), mRNA.							93.0	89.0	91.0					1																	185958748		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185958748C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3177C>T	1.37:g.185958748C>T						HMCN1_uc001grr.1_Silent_p.Y400Y	p.Y1059Y	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			20	3406	+			1059			Ig-like C2-type 7.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.3177C>T	CCDS30956.1																																																																																				0.483	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
IGFN1	91156	broad.mit.edu	37	1	201182690	201182690	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:201182690C>T	ENST00000335211.4	+	12	8799	c.8669C>T	c.(8668-8670)aCc>aTc	p.T2890I	IGFN1_ENST00000451870.2_Missense_Mutation_p.T433I|IGFN1_ENST00000295591.8_Missense_Mutation_p.T50I	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	433						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGAGATGCTACCCGGAGTTCC	0.562																																						uc001gwc.3																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(8668-8670)aCc>aTc		Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.							88.0	83.0	84.0					1																	201182690		2203	4300	6503	SO:0001583	missense	91156							g.chr1:201182690C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8669C>T	1.37:g.201182690C>T	ENSP00000334714:p.Thr2890Ile					IGFN1_uc001gwb.3_Non-coding_Transcript	p.T2890I	NM_001164586	NP_001158058					11	8799	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.8669C>T	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155373	0.57259	.	.	ENSG00000163395	ENST00000335211;ENST00000451870;ENST00000295591	T;T;T	0.62498	0.4;0.02;0.65	3.01	-0.259	0.12971	.	1.517440	0.04996	U	0.468214	T	0.53867	0.1823	L	0.34521	1.04	0.09310	N	1	P	0.36048	0.534	B	0.40506	0.331	T	0.45716	-0.9242	10	0.38643	T	0.18	.	7.4468	0.27215	0.1771:0.2994:0.5235:0.0	.	2890	F8WAI1	.	I	2890;433;50	ENSP00000334714:T2890I;ENSP00000398386:T433I;ENSP00000295591:T50I	ENSP00000295591:T50I	T	+	2	0	IGFN1	199449313	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	0.000000	0.12993	-0.300000	0.08895	0.491000	0.48974	ACC		0.562	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275	
PLXDC2	84898	broad.mit.edu	37	10	20453469	20453469	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:20453469G>A	ENST00000377252.4	+	7	1697	c.856G>A	c.(856-858)Gtt>Att	p.V286I	PLXDC2_ENST00000377242.3_Missense_Mutation_p.V237I|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	286					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TGCATTTGTCGTTGTCCACAG	0.443																																						uc001iqg.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						c.(856-858)Gtt>Att		Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.							121.0	96.0	105.0					10																	20453469		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20453469G>A	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.856G>A	10.37:g.20453469G>A	ENSP00000366460:p.Val286Ile					PLXDC2_uc001iqh.1_Missense_Mutation_p.V237I|PLXDC2_uc009xkc.1_Non-coding_Transcript	p.V286I	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN			6	1493	+			286					Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.856G>A	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726707	0.48833	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.77877	-1.13;-1.13	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.62612	0.2442	N	0.21508	0.67	0.80722	D	1	P;P	0.49961	0.93;0.885	B;B	0.38194	0.267;0.148	T	0.65829	-0.6073	10	0.02654	T	1	.	19.8381	0.96666	0.0:0.0:1.0:0.0	.	237;286	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	I	286;237;149;272	ENSP00000366460:V286I;ENSP00000366450:V237I	ENSP00000366446:V149I	V	+	1	0	PLXDC2	20493475	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	7.085000	0.76875	2.695000	0.91970	0.460000	0.39030	GTT		0.443	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812	
MYO3A	53904	broad.mit.edu	37	10	26463063	26463063	+	Silent	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:26463063C>T	ENST00000265944.5	+	30	4036	c.3870C>T	c.(3868-3870)agC>agT	p.S1290S	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1290					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTACACTTAGCCAAAGGTCAA	0.428																																						uc001isn.2																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3868-3870)agC>agT		Homo sapiens myosin IIIA (MYO3A), mRNA.							65.0	70.0	68.0					10																	26463063		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26463063C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3870C>T	10.37:g.26463063C>T						MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	p.S1290S	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			29	4230	+			1290					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.3870C>T	CCDS7148.1																																																																																				0.428	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						uc010qex.1																			0											c.(523-525)aAt>aGt		Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							4	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086	
DKK1	22943	broad.mit.edu	37	10	54076434	54076434	+	Missense_Mutation	SNP	A	A	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:54076434A>G	ENST00000373970.3	+	4	807	c.668A>G	c.(667-669)cAt>cGt	p.H223R	PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	223	DKK-type Cys-2.				cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TGTACCAAGCATAGGAGAAAA	0.463																																						uc001jjr.3																			0				kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						c.(667-669)cAt>cGt		Homo sapiens dickkopf 1 homolog (Xenopus laevis) (DKK1), mRNA.							122.0	115.0	117.0					10																	54076434		2203	4300	6503	SO:0001583	missense	22943				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	g.chr10:54076434A>G		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.668A>G	10.37:g.54076434A>G	ENSP00000363081:p.His223Arg					LOC100506939_uc009xox.2_5'Flank	p.H223R	NM_012242	NP_036374	O94907	DKK1_HUMAN			3	822	+			223			DKK-type Cys-2.		B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	c.668A>G	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.590139	0.46214	.	.	ENSG00000107984	ENST00000373970	T	0.44083	0.93	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.48447	0.1500	N	0.25485	0.75	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.33033	-0.9884	10	0.08179	T	0.78	-0.0894	16.0852	0.81042	1.0:0.0:0.0:0.0	.	223	O94907	DKK1_HUMAN	R	223	ENSP00000363081:H223R	ENSP00000363081:H223R	H	+	2	0	DKK1	53746440	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	8.962000	0.93254	2.279000	0.76181	0.533000	0.62120	CAT		0.463	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1		
TMEM26	219623	broad.mit.edu	37	10	63170245	63170245	+	Silent	SNP	C	C	T	rs199811582		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:63170245C>T	ENST00000399298.3	-	6	1310	c.942G>A	c.(940-942)tcG>tcA	p.S314S	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	314						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GACTTCTCAACGAAGCACGGA	0.557																																						uc001jlo.2																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(940-942)tcG>tcA		Homo sapiens transmembrane protein 26 (TMEM26), mRNA.		C		0,4100		0,0,2050	98.0	101.0	100.0		942	0.6	0.0	10		100	2,8402		0,2,4200	no	coding-synonymous	TMEM26	NM_178505.6		0,2,6250	TT,TC,CC		0.0238,0.0,0.016		314/369	63170245	2,12502	2050	4202	6252	SO:0001819	synonymous_variant	219623					integral to membrane		g.chr10:63170245C>T	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.942G>A	10.37:g.63170245C>T						TMEM26_uc001jlp.1_Non-coding_Transcript	p.S314S	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN			5	1311	-	Prostate(12;0.0112)		314					Q6ZVM0|Q8IVN9	Silent	SNP	ENST00000399298.3	37	c.942G>A	CCDS41530.1																																																																																				0.557	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505	
RUFY2	55680	broad.mit.edu	37	10	70154149	70154149	+	Missense_Mutation	SNP	A	A	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:70154149A>G	ENST00000602465.1	-	5	558	c.458T>C	c.(457-459)cTg>cCg	p.L153P	RUFY2_ENST00000388768.2_Missense_Mutation_p.L188P|RUFY2_ENST00000399200.2_Missense_Mutation_p.L119P|RUFY2_ENST00000454950.2_Missense_Mutation_p.L95P|RUFY2_ENST00000342616.4_Missense_Mutation_p.L153P|RUFY2_ENST00000472394.2_5'UTR			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	202	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GCCAACCAGCAGCCCAACAAT	0.383																																						uc001job.3																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(562-564)cTg>cCg		Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.							177.0	169.0	172.0					10																	70154149		2041	4203	6244	SO:0001583	missense	55680					nucleus	metal ion binding	g.chr10:70154149A>G	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.458T>C	10.37:g.70154149A>G	ENSP00000473462:p.Leu153Pro					RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joc.3_Missense_Mutation_p.L119P|RUFY2_uc010qiw.2_Missense_Mutation_p.L95P|RUFY2_uc001jod.1_Missense_Mutation_p.L153P|RUFY2_uc009xpv.1_Missense_Mutation_p.L36P|RUFY2_uc001joe.1_Missense_Mutation_p.L153P	p.L188P	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN			4	890	-			202			RUN.		B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	ENST00000602465.1	37	c.563T>C		.	.	.	.	.	.	.	.	.	.	A	27.6	4.843781	0.91197	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000454950;ENST00000342616	T;T;T;T	0.37915	1.17;2.49;1.17;1.17	5.54	5.54	0.83059	.	0.069579	0.64402	D	0.000014	T	0.65428	0.2690	M	0.87381	2.88	0.80722	D	1	D;D;D;D;D	0.71674	0.988;0.994;0.997;0.99;0.998	D;D;D;P;D	0.75020	0.94;0.985;0.967;0.885;0.959	T	0.72265	-0.4344	10	0.87932	D	0	.	15.8453	0.78883	1.0:0.0:0.0:0.0	.	95;153;153;119;188	B4DFR0;Q5TC51;Q8WXA3-2;Q8WXA3-4;Q8WXA3-3	.;.;.;.;.	P	188;119;95;153	ENSP00000373420:L188P;ENSP00000382151:L119P;ENSP00000404986:L95P;ENSP00000341727:L153P	ENSP00000341727:L153P	L	-	2	0	RUFY2	69824155	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.129000	0.94430	2.330000	0.79161	0.528000	0.53228	CTG		0.383	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987	
COL17A1	1308	broad.mit.edu	37	10	105815707	105815707	+	Missense_Mutation	SNP	C	C	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:105815707C>A	ENST00000353479.5	-	18	1810	c.1520G>T	c.(1519-1521)aGg>aTg	p.R507M	COL17A1_ENST00000480127.1_5'UTR|COL17A1_ENST00000369733.3_Missense_Mutation_p.R507M	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	507	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CAGTATGCTCCTCCTGATCCT	0.597																																						uc001kxr.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(1519-1521)aGg>aTg		Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.							141.0	116.0	125.0					10																	105815707		2203	4300	6503	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105815707C>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1520G>T	10.37:g.105815707C>A	ENSP00000340937:p.Arg507Met					COL17A1_uc010qqv.1_Missense_Mutation_p.R491M	p.R507M	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	17	1689	-		Colorectal(252;0.103)|Breast(234;0.122)	507			Nonhelical region (NC16).		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.1520G>T	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484029	0.26598	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872	T;T	0.45668	0.89;0.89	4.35	2.47	0.30058	.	1.387560	0.05245	N	0.512905	T	0.25195	0.0612	N	0.08118	0	0.09310	N	0.999998	B;B	0.22480	0.034;0.07	B;B	0.23018	0.043;0.037	T	0.25606	-1.0127	10	0.42905	T	0.14	4.6382	6.3179	0.21200	0.0:0.4913:0.2869:0.2218	.	507;507	Q9UMD9-2;Q9UMD9	.;COHA1_HUMAN	M	507;507;491	ENSP00000340937:R507M;ENSP00000358748:R507M	ENSP00000340937:R507M	R	-	2	0	COL17A1	105805697	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.101000	0.15251	0.303000	0.22785	0.462000	0.41574	AGG		0.597	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494	
UBQLN3	50613	broad.mit.edu	37	11	5529360	5529360	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:5529360G>A	ENST00000311659.4	-	2	1576	c.1429C>T	c.(1429-1431)Ctg>Ttg	p.L477L	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_5'Flank|HBG2_ENST00000380252.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	477										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGGATGGCAGCCAGGGAGGC	0.552																																					Ovarian(72;684 1260 12332 41642 52180)	uc021qcw.1																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(1429-1431)Ctg>Ttg		Homo sapiens ubiquilin 3 (UBQLN3), mRNA.							54.0	61.0	59.0					11																	5529360		2201	4297	6498	SO:0001819	synonymous_variant	50613							g.chr11:5529360G>A	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1429C>T	11.37:g.5529360G>A						HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Silent_p.L477L	p.L477L	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	1429	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	477					Q9NRE0	Silent	SNP	ENST00000311659.4	37	c.1429C>T	CCDS7758.1																																																																																				0.552	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481	
DCHS1	8642	broad.mit.edu	37	11	6646055	6646055	+	Silent	SNP	G	G	A	rs370143518		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:6646055G>A	ENST00000299441.3	-	20	7602	c.7191C>T	c.(7189-7191)tcC>tcT	p.S2397S	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2397	Cadherin 23. {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)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCAGAGACGGAGAGAATGG	0.557																																						uc001mem.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(7189-7191)tcC>tcT		Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.							128.0	88.0	101.0					11																	6646055		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6646055G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7191C>T	11.37:g.6646055G>A						DCHS1_uc021qdb.1_5'Flank	p.S2397S	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	19	7592	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2397			Cadherin 23.		O15098	Silent	SNP	ENST00000299441.3	37	c.7191C>T	CCDS7771.1																																																																																				0.557	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737	
RAG1	5896	broad.mit.edu	37	11	36597064	36597064	+	Missense_Mutation	SNP	G	G	A	rs104894286		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:36597064G>A	ENST00000299440.5	+	2	2322	c.2210G>A	c.(2209-2211)cGt>cAt	p.R737H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	737			R -> H (in OS and CHIDG; reduced recombination activity when associated with T-507; dbSNP:rs104894286). {ECO:0000269|PubMed:18463379, ECO:0000269|PubMed:9630231}.		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GATGCCACCCGTCTGGAAGCC	0.502									Familial Hemophagocytic Lymphohistiocytosis				G|||	1	0.000199681	0.0008	0.0	5008	,	,		18590	0.0		0.0	False		,,,				2504	0.0				Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc021qgb.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	GRCh37	CM981696	RAG1	M	rs104894286	c.(2209-2211)cGt>cAt		Homo sapiens recombination activating gene 1 (RAG1), mRNA.		G	HIS/ARG	0,4404		0,0,2202	83.0	80.0	81.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2210	6.1	1.0	11	dbSNP_132	81	1,8595	1.2+/-3.3	0,1,4297	no	missense	RAG1	NM_000448.2	29	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	737/1044	36597064	1,12999	2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597064G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2210G>A	11.37:g.36597064G>A	ENSP00000299440:p.Arg737His					RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.R737H	p.R737H	NM_000448	NP_000439	P15918	RAG1_HUMAN			0	2210	+	all_lung(20;0.226)	all_hematologic(20;0.107)	737		R -> H (in OS and CHIDG; reduced recombination activity when associated with T-507).			E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2210G>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542171	0.85917	0.0	1.16E-4	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.88664	-2.41;-2.41	6.13	6.13	0.99165	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	D	0.96772	0.8946	H	0.96365	3.81	0.80722	A	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96968	0.9706	9	0.87932	D	0	.	20.8401	0.99726	0.0:0.0:1.0:0.0	.	737	P15918	RAG1_HUMAN	H	737	ENSP00000434610:R737H;ENSP00000299440:R737H	ENSP00000299440:R737H	R	+	2	0	RAG1	36553640	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.476000	0.97823	2.932000	0.99384	0.644000	0.83932	CGT		0.502	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448	
OR5D18	219438	broad.mit.edu	37	11	55587399	55587399	+	Silent	SNP	C	C	T	rs147156620		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:55587399C>T	ENST00000333976.4	+	1	314	c.294C>T	c.(292-294)tgC>tgT	p.C98C		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTTTAGGATGCGTAGTACAAT	0.433																																						uc010rin.2																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(292-294)tgC>tgT		Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.		C		3,4397		0,3,2197	203.0	203.0	203.0		294	-5.2	0.0	11	dbSNP_134	203	0,8592		0,0,4296	no	coding-synonymous	OR5D18	NM_001001952.1		0,3,6493	TT,TC,CC		0.0,0.0682,0.0231		98/314	55587399	3,12989	2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587399C>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.294C>T	11.37:g.55587399C>T							p.C98C	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			0	294	+		all_epithelial(135;0.208)	98					Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.294C>T	CCDS31510.1																																																																																				0.433	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952	
OR8J3	81168	broad.mit.edu	37	11	55904467	55904467	+	Missense_Mutation	SNP	G	G	A	rs550603090		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:55904467G>A	ENST00000301529.1	-	1	727	c.728C>T	c.(727-729)tCg>tTg	p.S243L		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TATCATATGCGAAGCGCAGGT	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		20290	0.0		0.0	False		,,,				2504	0.001					uc010riz.2																			0		p.A242T(1)|p.S243S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(727-729)tCg>tTg		Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.							119.0	111.0	113.0					11																	55904467		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904467G>A		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.728C>T	11.37:g.55904467G>A	ENSP00000301529:p.Ser243Leu						p.S243L	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			0	728	-	Esophageal squamous(21;0.00693)		243					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.728C>T	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206656	0.39003	.	.	ENSG00000167822	ENST00000301529	T	0.38560	1.13	3.27	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000038	T	0.76219	0.3957	H	0.98027	4.13	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73820	-0.3862	10	0.87932	D	0	.	14.473	0.67529	0.0:0.0:1.0:0.0	.	243	Q8NGG0	OR8J3_HUMAN	L	243	ENSP00000301529:S243L	ENSP00000301529:S243L	S	-	2	0	OR8J3	55661043	1.000000	0.71417	0.288000	0.24862	0.112000	0.19704	6.243000	0.72384	1.553000	0.49476	0.297000	0.19635	TCG		0.403	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064	
SLC43A3	29015	broad.mit.edu	37	11	57193641	57193641	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:57193641G>A	ENST00000395123.2	-	3	309	c.5C>T	c.(4-6)gCg>gTg	p.A2V	SLC43A3_ENST00000533524.1_Missense_Mutation_p.A2V|SLC43A3_ENST00000529554.1_Missense_Mutation_p.A2V|SLC43A3_ENST00000352187.1_Missense_Mutation_p.A2V|SLC43A3_ENST00000395124.1_Missense_Mutation_p.A2V|SLC43A3_ENST00000528098.1_5'UTR	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	2					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GCCCTGGCCCGCCATGAGCAG	0.587																																						uc010rjr.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(4-6)gCg>gTg		Homo sapiens solute carrier family 43, member 3 (SLC43A3), mRNA.							44.0	51.0	49.0					11																	57193641		2201	4296	6497	SO:0001583	missense	29015				transmembrane transport	integral to membrane		g.chr11:57193641G>A	AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.5C>T	11.37:g.57193641G>A	ENSP00000378555:p.Ala2Val					SLC43A3_uc001nke.3_5'Flank|SLC43A3_uc001nkg.3_Missense_Mutation_p.A2V|SLC43A3_uc001nkh.3_Missense_Mutation_p.A2V|SLC43A3_uc009yme.3_Missense_Mutation_p.A2V|SLC43A3_uc001nki.3_Missense_Mutation_p.A2V|SLC43A3_uc009ymf.1_Missense_Mutation_p.A2V|SLC43A3_uc010rjs.1_Missense_Mutation_p.A2V|SLC43A3_uc009ymg.1_Missense_Mutation_p.A2V	p.A2V	NM_199329	NP_955361	Q8NBI5	S43A3_HUMAN			2	347	-			2					B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	37	c.5C>T	CCDS7956.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723604	0.48728	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524;ENST00000530005;ENST00000525474;ENST00000529112;ENST00000528187;ENST00000529494;ENST00000533245;ENST00000533235;ENST00000524863;ENST00000532795;ENST00000533051;ENST00000529896;ENST00000526621;ENST00000530316;ENST00000529748	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.51325	1.45;1.45;1.45;1.45;1.4;0.8;0.92;0.91;0.88;0.91;0.91;0.92;0.92;0.91;0.89;0.71;0.79	4.86	0.708	0.18144	.	2.073540	0.02291	N	0.070325	T	0.36193	0.0958	L	0.34521	1.04	0.09310	N	1	B;B;B	0.15141	0.012;0.008;0.003	B;B;B	0.10450	0.005;0.002;0.001	T	0.12041	-1.0563	10	0.33141	T	0.24	-2.4754	3.8945	0.09133	0.2501:0.0:0.4471:0.3028	.	2;2;2	B4DV87;E7EQD2;Q8NBI5	.;.;S43A3_HUMAN	V	2	ENSP00000378555:A2V;ENSP00000378556:A2V;ENSP00000337561:A2V;ENSP00000436254:A2V;ENSP00000434515:A2V;ENSP00000435893:A2V;ENSP00000436055:A2V;ENSP00000434913:A2V;ENSP00000435273:A2V;ENSP00000433974:A2V;ENSP00000431762:A2V;ENSP00000435156:A2V;ENSP00000434569:A2V;ENSP00000435109:A2V;ENSP00000435490:A2V;ENSP00000431367:A2V;ENSP00000434710:A2V	ENSP00000337561:A2V	A	-	2	0	SLC43A3	56950217	0.011000	0.17503	0.327000	0.25402	0.336000	0.28762	0.005000	0.13129	0.183000	0.20059	0.561000	0.74099	GCG		0.587	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611	
DYNC2H1	79659	broad.mit.edu	37	11	103006524	103006524	+	Silent	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:103006524C>T	ENST00000375735.2	+	17	2565	c.2421C>T	c.(2419-2421)atC>atT	p.I807I	DYNC2H1_ENST00000398093.3_Silent_p.I807I|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	807	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGAGATTCATCGGCATTCCAA	0.343																																						uc001phn.1																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(2419-2421)atC>atT		Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.							57.0	54.0	55.0					11																	103006524		1807	4059	5866	SO:0001819	synonymous_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103006524C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.2421C>T	11.37:g.103006524C>T						DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.I807I	p.I807I	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	16	2565	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	807			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.2421C>T	CCDS53701.1																																																																																				0.343	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
CD163L1	283316	broad.mit.edu	37	12	7519881	7519881	+	Silent	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr12:7519881C>T	ENST00000313599.3	-	18	4287	c.4230G>A	c.(4228-4230)gaG>gaA	p.E1410E	CD163L1_ENST00000416109.2_Silent_p.E1420E|CD163L1_ENST00000396630.1_Intron			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1410						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGGTCTCCATCTCATGGAATA	0.498																																						uc010sge.2																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(4258-4260)gaG>gaA		Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.							75.0	67.0	69.0					12																	7519881		2203	4300	6503	SO:0001819	synonymous_variant	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7519881C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.4230G>A	12.37:g.7519881C>T						CD163L1_uc001qsy.3_Silent_p.E1410E	p.E1420E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			17	4286	-			1410					B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	ENST00000313599.3	37	c.4260G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	1.631	-0.518940	0.04171	.	.	ENSG00000177675	ENST00000539726	.	.	.	1.93	0.982	0.19762	.	.	.	.	.	T	0.24928	0.0605	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24512	-1.0158	4	.	.	.	.	4.9225	0.13876	0.0:0.7891:0.0:0.2109	.	.	.	.	N	66	.	.	D	-	1	0	CD163L1	7411148	0.160000	0.22878	0.026000	0.17262	0.021000	0.10359	0.068000	0.14531	0.103000	0.17682	0.555000	0.69702	GAT		0.498	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
KRT18	3875	broad.mit.edu	37	12	53346096	53346096	+	Missense_Mutation	SNP	G	G	A	rs147541172	byFrequency	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr12:53346096G>A	ENST00000388835.3	+	6	1352	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	KRT8_ENST00000546897.1_5'Flank|KRT18_ENST00000388837.2_Missense_Mutation_p.R381H|KRT8_ENST00000552551.1_5'Flank|KRT18_ENST00000550600.1_Missense_Mutation_p.R381H|AC107016.2_ENST00000581256.1_RNA|KRT8_ENST00000549198.1_5'Flank	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	381	Coil 2.|Interaction with DNAJB6.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GCCACCTACCGCCGCCTGCTG	0.602																																						uc001sbe.3																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						c.(1141-1143)cGc>cAc		Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.		G	HIS/ARG,HIS/ARG	0,4382		0,0,2191	16.0	19.0	18.0		1142,1142	4.0	1.0	12	dbSNP_134	18	3,8587		0,3,4292	no	missense,missense	KRT18	NM_000224.2,NM_199187.1	29,29	0,3,6483	AA,AG,GG		0.0349,0.0,0.0231	benign,benign	381/431,381/431	53346096	3,12969	2191	4295	6486	SO:0001583	missense	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53346096G>A		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.1142G>A	12.37:g.53346096G>A	ENSP00000373487:p.Arg381His					KRT18_uc009zmn.2_Missense_Mutation_p.R381H|KRT18_uc001sbg.3_Missense_Mutation_p.R381H|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	p.R381H	NM_199187	NP_954657	P05783	K1C18_HUMAN			6	1211	+			381			Coil 2.|Interaction with DNAJB6.|Rod.		Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	ENST00000388835.3	37	c.1142G>A	CCDS31809.1	.	.	.	.	.	.	.	.	.	.	g	14.02	2.411230	0.42817	0.0	3.49E-4	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.94687	-3.49;-3.49;-3.49	4.0	4.0	0.46444	Filament (1);Intermediate filament protein, conserved site (1);	0.105638	0.36555	N	0.002525	D	0.91300	0.7257	L	0.41415	1.275	0.49582	D	0.999803	B;B	0.19200	0.011;0.034	B;B	0.23275	0.019;0.045	D	0.89427	0.3714	10	0.72032	D	0.01	.	14.3934	0.66996	0.0:0.0:1.0:0.0	.	381;381	F8VZY9;P05783	.;K1C18_HUMAN	H	381	ENSP00000373489:R381H;ENSP00000447278:R381H;ENSP00000373487:R381H	ENSP00000373487:R381H	R	+	2	0	KRT18	51632363	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.189000	0.65098	2.535000	0.85469	0.561000	0.74099	CGC		0.602	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187	
ACACB	32	broad.mit.edu	37	12	109693958	109693958	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr12:109693958G>A	ENST00000338432.7	+	45	6299	c.6180G>A	c.(6178-6180)acG>acA	p.T2060T	ACACB_ENST00000543201.1_Silent_p.T726T|ACACB_ENST00000377854.5_Silent_p.T1990T|ACACB_ENST00000377848.3_Silent_p.T2060T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2060	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TGAAGGGAACGTGGCAGAGCG	0.602																																						uc001tob.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(6178-6180)acG>acA		Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	Biotin(DB00121)						59.0	54.0	56.0					12																	109693958		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109693958G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6180G>A	12.37:g.109693958G>A						ACACB_uc001toc.3_Silent_p.T2060T|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.T726T	p.T2060T	NM_001093	NP_001084	O00763	ACACB_HUMAN			44	6299	+			2060			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.6180G>A	CCDS31898.1																																																																																				0.602	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
PITPNM2	57605	broad.mit.edu	37	12	123473301	123473301	+	Silent	SNP	T	T	C			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr12:123473301T>C	ENST00000542749.1	-	17	2913	c.2850A>G	c.(2848-2850)tcA>tcG	p.S950S	PITPNM2_ENST00000320201.4_Silent_p.S950S|PITPNM2_ENST00000392428.1_Silent_p.S671S|PITPNM2_ENST00000280562.5_Silent_p.S944S			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	950	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCACGTCTGTTGACTCCCAGT	0.632																																						uc001uej.1																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(2848-2850)tcA>tcG		Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.							67.0	49.0	55.0					12																	123473301		2200	4296	6496	SO:0001819	synonymous_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123473301T>C	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.2850A>G	12.37:g.123473301T>C						PITPNM2_uc001uek.1_Silent_p.S944S	p.S950S	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	17	3049	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		950			DDHD.		Q9P271	Silent	SNP	ENST00000542749.1	37	c.2850A>G	CCDS9242.1																																																																																				0.632	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845	
MYH6	4624	broad.mit.edu	37	14	23861788	23861789	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr14:23861788_23861789delTC	ENST00000356287.3	-	24	3353_3354	c.3324_3325delGA	c.(3322-3327)aagaaafs	p.KK1108fs	MYH6_ENST00000405093.3_Frame_Shift_Del_p.KK1108fs			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1108					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCTTCAGTTTCTTCTGTAGTT	0.505																																						uc001wjv.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(3322-3327)aagaaafs		Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.																																				SO:0001589	frameshift_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23861788_23861789delTC	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3324_3325delGA	14.37:g.23861788_23861789delTC	ENSP00000348634:p.Lys1108fs						p.K1108fs	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	24	3395_3396	-	all_cancers(95;2.54e-05)		1108					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Frame_Shift_Del	DEL	ENST00000356287.3	37	c.3324_3325delGA	CCDS9600.1																																																																																				0.505	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
SPTBN5	51332	broad.mit.edu	37	15	42160382	42160382	+	Missense_Mutation	SNP	C	C	A	rs374054802	byFrequency	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr15:42160382C>A	ENST00000320955.6	-	34	6319	c.6092G>T	c.(6091-6093)cGg>cTg	p.R2031L	MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2031					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CACCTGGTCCCGCTGGTCCTG	0.642																																						uc001zos.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(5986-5988)cGg>cTg		Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.							20.0	20.0	20.0					15																	42160382		2030	4192	6222	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42160382C>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.6092G>T	15.37:g.42160382C>A	ENSP00000317790:p.Arg2031Leu					MIR4310_uc021sjo.1_5'Flank	p.R1996L	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	33	6320	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	2031						Missense_Mutation	SNP	ENST00000320955.6	37	c.5987G>T		.	.	.	.	.	.	.	.	.	.	.	17.54	3.415825	0.62511	.	.	ENSG00000137877	ENST00000320955	T	0.50548	0.74	4.78	1.84	0.25277	.	0.090641	0.43416	D	0.000577	T	0.61173	0.2326	M	0.73962	2.25	0.09310	N	1	D	0.76494	0.999	D	0.67231	0.95	T	0.52668	-0.8545	10	0.72032	D	0.01	.	7.0745	0.25197	0.0:0.7115:0.0:0.2885	.	2031	Q9NRC6	SPTN5_HUMAN	L	2031	ENSP00000317790:R2031L	ENSP00000317790:R2031L	R	-	2	0	SPTBN5	39947674	0.000000	0.05858	0.060000	0.19600	0.899000	0.52679	0.959000	0.29240	0.101000	0.17610	0.401000	0.26515	CGG		0.642	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642	
ATP8B4	79895	broad.mit.edu	37	15	50209193	50209193	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr15:50209193G>A	ENST00000284509.6	-	20	2220	c.2079C>T	c.(2077-2079)gaC>gaT	p.D693D	ATP8B4_ENST00000559829.1_Silent_p.D693D	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	693						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CATTCATGTCGTCAGTCAGCA	0.408																																						uc001zxu.3																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(2077-2079)gaC>gaT		Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.							275.0	232.0	247.0					15																	50209193		2196	4295	6491	SO:0001819	synonymous_variant	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50209193G>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2079C>T	15.37:g.50209193G>A						ATP8B4_uc010ber.3_Silent_p.D566D|ATP8B4_uc010ufd.2_Silent_p.D503D|ATP8B4_uc010ufe.2_Non-coding_Transcript	p.D693D	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	19	2221	-		all_lung(180;0.00183)	693					Q9H727	Silent	SNP	ENST00000284509.6	37	c.2079C>T	CCDS32238.1																																																																																				0.408	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	
SH3GL3	6457	broad.mit.edu	37	15	84257442	84257442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr15:84257442C>T	ENST00000427482.2	+	8	1063	c.757C>T	c.(757-759)Cga>Tga	p.R253*	SH3GL3_ENST00000324537.5_Nonsense_Mutation_p.R261*|SH3GL3_ENST00000535412.1_Nonsense_Mutation_p.R253*|SH3GL3_ENST00000434347.1_Nonsense_Mutation_p.R261*	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	253	Interaction with ARC. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TGTCCCCAGACGAGAATACAA	0.458																																						uc002bjw.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(757-759)Cga>Tga		Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.							131.0	96.0	108.0					15																	84257442		2203	4300	6503	SO:0001587	stop_gained	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84257442C>T	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.757C>T	15.37:g.84257442C>T	ENSP00000391372:p.Arg253*					SH3GL3_uc010uot.1_Nonsense_Mutation_p.R253*|SH3GL3_uc002bjx.3_Nonsense_Mutation_p.R184*|SH3GL3_uc002bju.3_Nonsense_Mutation_p.R261*|SH3GL3_uc002bjv.3_Non-coding_Transcript	p.R253*	NM_003027	NP_003018	Q99963	SH3G3_HUMAN			7	952	+			253			Interaction with ARC (By similarity).		O43553|O43554	Nonsense_Mutation	SNP	ENST00000427482.2	37	c.757C>T	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	C	41	9.023893	0.99040	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	.	.	.	4.34	1.3	0.21679	.	0.307812	0.31134	N	0.008189	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.6336	10.1325	0.42687	0.5339:0.4661:0.0:0.0	.	.	.	.	X	253;253;261;261	.	ENSP00000320092:R261X	R	+	1	2	SH3GL3	82048446	0.496000	0.26059	0.002000	0.10522	0.992000	0.81027	0.776000	0.26704	0.302000	0.22762	0.655000	0.94253	CGA		0.458	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027	
OR3A4P	390756	broad.mit.edu	37	17	3213978	3213978	+	RNA	SNP	G	G	A	rs141261218	byFrequency	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr17:3213978G>A	ENST00000573491.1	-	0	359																											GCCTATGACCGCTATCTGGCC	0.562													G|||	5	0.000998403	0.0015	0.0	5008	,	,		19981	0.002		0.0	False		,,,				2504	0.001					uc002fvi.2																			0											c.(373-375)cGc>cAc		Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.							82.0	83.0	83.0					17																	3213978		2203	4300	6503			390756							g.chr17:3213978G>A																													17.37:g.3213978G>A							p.R125H							0	440	+									Missense_Mutation	SNP	ENST00000573491.1	37	c.374G>A																																																																																					0.562	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000438371.1		
DNAH9	1770	broad.mit.edu	37	17	11865572	11865572	+	Splice_Site	SNP	A	A	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr17:11865572A>G	ENST00000262442.4	+	68	13300	c.13232A>G	c.(13231-13233)cAg>cGg	p.Q4411R	RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Splice_Site_p.Q4335R|DNAH9_ENST00000608377.1_Splice_Site_p.Q723R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4411					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGGACACACAGGTAAAGCTT	0.473																																						uc002gne.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.e68+1		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							53.0	56.0	55.0					17																	11865572		2203	4300	6503	SO:0001630	splice_region_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11865572A>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.13233+1A>G	17.37:g.11865572A>G						DNAH9_uc010coo.3_Splice_Site_p.Q3629_splice|DNAH9_uc002gnf.3_Splice_Site_p.Q723_splice	p.Q4411_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	68	13301	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4411					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.13233_splice	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.601055	0.66332	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.08634	3.07;3.07;3.07	5.04	5.04	0.67666	Dynein heavy chain (1);	0.056757	0.64402	D	0.000001	T	0.17109	0.0411	L	0.48935	1.535	0.51012	D	0.999905	P	0.50819	0.939	P	0.59825	0.864	T	0.01323	-1.1385	10	0.32370	T	0.25	.	11.0149	0.47682	0.8443:0.1557:0.0:0.0	.	4411	Q9NYC9	DYH9_HUMAN	R	4411;4335;2917;723	ENSP00000262442:Q4411R;ENSP00000414874:Q4335R;ENSP00000379323:Q723R	ENSP00000262442:Q4411R	Q	+	2	0	DNAH9	11806297	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.348000	0.73009	2.116000	0.64780	0.533000	0.62120	CAG		0.473	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	Missense_Mutation
ALDH3A1	218	broad.mit.edu	37	17	19642827	19642827	+	Silent	SNP	G	G	A	rs374241489		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr17:19642827G>A	ENST00000457500.2	-	7	1439	c.1110C>T	c.(1108-1110)aaC>aaT	p.N370N	ALDH3A1_ENST00000494157.2_Silent_p.N297N|ALDH3A1_ENST00000444455.1_Silent_p.N370N|ALDH3A1_ENST00000225740.6_Silent_p.N370N|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000395555.3_Silent_p.N306N	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	370					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		CCACCTTGTCGTTGCTGGAGA	0.632																																						uc002gwk.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(1459-1461)aaC>aaT		Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	NADH(DB00157)	G	,,	0,4406		0,0,2203	68.0	52.0	57.0		1110,1110,1110	-7.2	0.0	17		57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ALDH3A1	NM_000691.4,NM_001135167.1,NM_001135168.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	370/454,370/454,370/454	19642827	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19642827G>A	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.1110C>T	17.37:g.19642827G>A						ALDH3A1_uc010cqu.3_Silent_p.N370N|ALDH3A1_uc010vzd.2_Silent_p.N370N|ALDH3A1_uc002gwj.3_Silent_p.N370N|ALDH3A1_uc010cqv.3_Silent_p.N369N|ALDH3A1_uc002gwl.1_Silent_p.N297N	p.N487N			P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	5	1724	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		370					A8K828|Q9BT37	Silent	SNP	ENST00000457500.2	37	c.1461C>T	CCDS11212.1																																																																																				0.632	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691	
DNAI2	64446	broad.mit.edu	37	17	72283178	72283178	+	Silent	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr17:72283178C>T	ENST00000311014.6	+	4	475	c.408C>T	c.(406-408)gaC>gaT	p.D136D	DNAI2_ENST00000446837.2_Silent_p.D136D|DNAI2_ENST00000579490.1_Silent_p.D193D|DNAI2_ENST00000582036.1_Silent_p.D136D|DNAI2_ENST00000307504.5_Intron			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	136					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ATTTCAATGACGAGGAGGCCA	0.507									Kartagener syndrome																													uc002jkf.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(406-408)gaC>gaT		Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.							155.0	116.0	129.0					17																	72283178		2203	4300	6503	SO:0001819	synonymous_variant	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72283178C>T	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.408C>T	17.37:g.72283178C>T						DNAI2_uc002jkg.3_Silent_p.D136D|DNAI2_uc010dfp.3_Intron	p.D136D	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			3	518	+			136					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	ENST00000311014.6	37	c.408C>T	CCDS11697.1																																																																																				0.507	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036	
AFG3L2	10939	broad.mit.edu	37	18	12356814	12356814	+	Missense_Mutation	SNP	C	C	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr18:12356814C>G	ENST00000269143.3	-	9	1274	c.1043G>C	c.(1042-1044)gGt>gCt	p.G348A		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	348					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	GCCTGGAGGACCAGTGAGAAT	0.418																																						uc002kqz.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(1042-1044)gGt>gCt		Homo sapiens AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA.	Adenosine triphosphate(DB00171)						88.0	74.0	79.0					18																	12356814		2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12356814C>G	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1043G>C	18.37:g.12356814C>G	ENSP00000269143:p.Gly348Ala						p.G348A	NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN			8	1237	-			348					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.1043G>C	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978578	0.92982	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.99089	-5.41	5.41	5.41	0.78517	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.99609	0.9858	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97771	1.0226	10	0.87932	D	0	-4.7233	19.5665	0.95395	0.0:1.0:0.0:0.0	.	348	Q9Y4W6	AFG32_HUMAN	A	348;363	ENSP00000269143:G348A	ENSP00000269143:G348A	G	-	2	0	AFG3L2	12346814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.699000	0.92147	0.655000	0.94253	GGT		0.418	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796	
DSG4	147409	broad.mit.edu	37	18	28986155	28986155	+	Silent	SNP	A	A	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr18:28986155A>G	ENST00000308128.4	+	12	1887	c.1752A>G	c.(1750-1752)ttA>ttG	p.L584L	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Silent_p.L584L|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	584					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGGTGCAGTTATATGCCTGTG	0.483																																						uc002kwr.2																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(1750-1752)ttA>ttG		Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.							108.0	104.0	105.0					18																	28986155		2203	4300	6503	SO:0001819	synonymous_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28986155A>G	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1752A>G	18.37:g.28986155A>G						DSG4_uc002kwq.2_Silent_p.L584L	p.L584L	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		11	1887	+			584					A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	c.1752A>G	CCDS11897.1																																																																																				0.483	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986	
THEG	51298	broad.mit.edu	37	19	362390	362390	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:362390C>T	ENST00000342640.4	-	8	992	c.950G>A	c.(949-951)cGa>cAa	p.R317Q	THEG_ENST00000346878.2_Missense_Mutation_p.R293Q	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	317					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCGAGGATCTCGGTCAGGAAC	0.597																																						uc002lol.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(949-951)cGa>cAa		Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.							100.0	93.0	96.0					19																	362390		2203	4300	6503	SO:0001583	missense	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:362390C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.950G>A	19.37:g.362390C>T	ENSP00000340088:p.Arg317Gln					THEG_uc002lom.3_Missense_Mutation_p.R293Q	p.R317Q	NM_016585	NP_057669	Q9P2T0	THEG_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	993	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	317					A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	c.950G>A	CCDS12025.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.51|18.51	3.640490|3.640490	0.67244|0.67244	.|.	.|.	ENSG00000105549|ENSG00000105549	ENST00000530711|ENST00000342640;ENST00000346878	.|T;T	.|0.34275	.|1.37;1.37	3.55|3.55	2.51|2.51	0.30379|0.30379	.|.	.|0.111738	.|0.38720	.|N	.|0.001594	T|T	0.51719|0.51719	0.1691|0.1691	M|M	0.75777|0.75777	2.31|2.31	0.33188|0.33188	D|D	0.550518|0.550518	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.69307	.|0.946;0.963	T|T	0.62520|0.62520	-0.6837|-0.6837	6|10	0.87932|0.66056	D|D	0|0.02	-13.0681|-13.0681	6.1145|6.1145	0.20120|0.20120	0.0:0.8609:0.0:0.1391|0.0:0.8609:0.0:0.1391	.|.	.|293;317	.|Q9P2T0-2;Q9P2T0	.|.;THEG_HUMAN	K|Q	95|317;293	.|ENSP00000340088:R317Q;ENSP00000264820:R293Q	ENSP00000431699:E95K|ENSP00000340088:R317Q	E|R	-|-	1|2	0|0	THEG|THEG	313390|313390	0.922000|0.922000	0.31269|0.31269	0.983000|0.983000	0.44433|0.44433	0.886000|0.886000	0.51366|0.51366	1.591000|1.591000	0.36665|0.36665	1.982000|1.982000	0.57802|0.57802	0.505000|0.505000	0.49811|0.49811	GAG|CGA		0.597	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2		
SBNO2	22904	broad.mit.edu	37	19	1105195	1105195	+	IGR	SNP	G	G	A	rs369712159		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:1105195G>A	ENST00000361757.3	-	0	4922				GPX4_ENST00000589115.1_Missense_Mutation_p.R32Q|GPX4_ENST00000354171.8_Missense_Mutation_p.R32Q	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)						bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCGCGTCCCGGGACGACTGG	0.672																																						uc021umh.1																			0				endometrium(1)|kidney(2)	3						c.(205-207)cGg>cAg		Homo sapiens glutathione peroxidase 4 (phospholipid hydroperoxidase) (GPX4), transcript variant 3, mRNA.	Glutathione(DB00143)	G	GLN/ARG,GLN/ARG,GLN/ARG	0,4118		0,0,2059	30.0	33.0	32.0		95,206,95	1.8	0.5	19		32	1,8345		0,1,4172	no	missense,missense,missense	GPX4	NM_001039847.1,NM_001039848.1,NM_002085.3	43,43,43	0,1,6231	AA,AG,GG		0.012,0.0,0.0080	benign,benign,benign	32/228,69/235,32/198	1105195	1,12463	2059	4173	6232	SO:0001628	intergenic_variant	2879				multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity	g.chr19:1105195G>A	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9			19.37:g.1105195G>A						GPX4_uc021umg.1_Missense_Mutation_p.R32Q|GPX4_uc021umf.1_Missense_Mutation_p.R32Q	p.R69Q	NM_001039848	NP_002076	P36969	GPX4_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)	1	291	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	32					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.206G>A	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	G	2.375	-0.343399	0.05243	0.0	1.2E-4	ENSG00000167468	ENST00000354171	T	0.03553	3.89	3.93	1.79	0.24919	.	.	.	.	.	T	0.01835	0.0058	N	0.08118	0	0.09310	N	1	B;B;B	0.18968	0.006;0.032;0.032	B;B;B	0.16722	0.016;0.008;0.008	T	0.49771	-0.8904	9	0.13853	T	0.58	.	4.3788	0.11284	0.2028:0.1878:0.6094:0.0	.	5;32;32	P36969-2;Q6PI42;P36969	.;.;GPX4_HUMAN	Q	32	ENSP00000346103:R32Q	ENSP00000346103:R32Q	R	+	2	0	GPX4	1056195	0.995000	0.38212	0.476000	0.27291	0.031000	0.12232	3.192000	0.50989	0.337000	0.23665	-0.794000	0.03295	CGG		0.672	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963	
CD209	30835	broad.mit.edu	37	19	7808071	7808071	+	Missense_Mutation	SNP	C	C	T	rs200282091		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:7808071C>T	ENST00000315599.7	-	7	1091	c.1069G>A	c.(1069-1071)Gcg>Acg	p.A357T	CD209_ENST00000593821.1_Missense_Mutation_p.A221T|CD209_ENST00000394161.5_Missense_Mutation_p.A121T|CD209_ENST00000602261.1_Missense_Mutation_p.A265T|CD209_ENST00000601256.1_Missense_Mutation_p.R295H|CD209_ENST00000354397.6_Missense_Mutation_p.A351T|CD209_ENST00000394173.4_Missense_Mutation_p.A196T|CD209_ENST00000593660.1_Missense_Mutation_p.A287T|CD209_ENST00000601951.1_Missense_Mutation_p.A333T|CD209_ENST00000315591.8_Missense_Mutation_p.A333T|CD209_ENST00000204801.8_Missense_Mutation_p.A313T|CD209_ENST00000301357.8_Missense_Mutation_p.A221T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	357	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTAAATTCCGCGCAGTCTTCC	0.527													c|||	1	0.000199681	0.0008	0.0	5008	,	,		19290	0.0		0.0	False		,,,				2504	0.0					uc002mht.2																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1069-1071)Gcg>Acg		Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	251.0	229.0	236.0		661,937,793,997,1051,586,1069	3.5	0.0	19		236	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	CD209	NM_001144893.1,NM_001144894.1,NM_001144895.1,NM_001144896.1,NM_001144897.1,NM_001144899.1,NM_021155.3	58,58,58,58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign,benign	221/269,313/361,265/313,333/381,351/399,196/244,357/405	7808071	1,13005	2203	4300	6503	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7808071C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.1069G>A	19.37:g.7808071C>T	ENSP00000315477:p.Ala357Thr					CD209_uc010xju.1_Missense_Mutation_p.A196T|CD209_uc010dvp.2_Missense_Mutation_p.R295H|CD209_uc002mhr.2_Missense_Mutation_p.A333T|CD209_uc002mhs.2_Missense_Mutation_p.A287T|CD209_uc002mhu.2_Missense_Mutation_p.A265T|CD209_uc010dvq.2_Missense_Mutation_p.A351T|CD209_uc002mhq.2_Missense_Mutation_p.A357T|CD209_uc002mhv.2_Missense_Mutation_p.A333T|CD209_uc002mhx.2_Missense_Mutation_p.A313T|CD209_uc002mhw.2_Missense_Mutation_p.A221T|CD209_uc010dvr.2_Missense_Mutation_p.A121T	p.A357T	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			6	1136	-			357			C-type lectin.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.1069G>A	CCDS12186.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.08	2.427520	0.43122	0.0	1.16E-4	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000394161	T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07	3.45	3.45	0.39498	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.40815	0.1132	M	0.69463	2.115	0.09310	N	1	B;D;D;D;P;B;D;D;D;P;D	0.69078	0.438;0.997;0.985;0.996;0.93;0.379;0.975;0.957;0.986;0.903;0.96	B;D;B;D;B;B;B;B;P;B;B	0.65573	0.054;0.936;0.351;0.933;0.182;0.024;0.432;0.15;0.556;0.064;0.239	T	0.08391	-1.0724	9	0.66056	D	0.02	.	10.7263	0.46070	0.0:1.0:0.0:0.0	.	357;121;351;313;221;333;265;357;287;333;357	B2R907;Q9NNX6-4;Q9NNX6-2;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;.;CD209_HUMAN;.;.;.	T	357;351;333;313;265;221;121	ENSP00000315477:A357T;ENSP00000346373:A351T;ENSP00000315407:A333T;ENSP00000204801:A313T;ENSP00000301357:A221T;ENSP00000377716:A121T	ENSP00000204801:A313T	A	-	1	0	CD209	7714071	0.006000	0.16342	0.012000	0.15200	0.015000	0.08874	2.594000	0.46189	2.221000	0.72209	0.455000	0.32223	GCG		0.527	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155	
MUC16	94025	broad.mit.edu	37	19	9072932	9072932	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:9072932G>A	ENST00000397910.4	-	3	14717	c.14514C>T	c.(14512-14514)acC>acT	p.T4838T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4840	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGCTGAACCGGTGGTCCCCA	0.463																																						uc002mkp.3																			0		p.T4837T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(14512-14514)acC>acT		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							170.0	159.0	163.0					19																	9072932		2068	4197	6265	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072932G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14514C>T	19.37:g.9072932G>A							p.T4838T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	14718	-			4840			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.14514C>T	CCDS54212.1																																																																																				0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	G	C	rs376579156	byFrequency	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:12187275G>C	ENST00000439326.3	+	4	1515	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R447P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433																																						uc002mtb.2																			1	Substitution - Missense(1)	p.R447P(2)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1339-1341)cGt>cCt		Homo sapiens zinc finger protein 844 (ZNF844), mRNA.							60.0	54.0	56.0					19																	12187275		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187275G>C	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1340G>C	19.37:g.12187275G>C	ENSP00000392024:p.Arg447Pro					ZNF844_uc010dym.1_Missense_Mutation_p.R290P	p.R447P	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN			3	1483	+			447					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1340G>C	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	T	0.637	-0.814748	0.02776	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.03717	3.83	2.88	-3.56	0.04626	.	.	.	.	.	T	0.00524	0.0017	N	0.00049	-2.415	0.51482	D	0.999921	B	0.02656	0.0	B	0.01281	0.0	T	0.45175	-0.9279	9	0.02654	T	1	.	2.6221	0.04919	0.1164:0.4107:0.122:0.3509	.	447	Q08AG5	ZN844_HUMAN	P	447	ENSP00000392024:R447P	ENSP00000392024:R447P	R	+	2	0	ZNF844	12048275	0.000000	0.05858	0.012000	0.15200	0.001000	0.01503	-7.066000	0.00045	-0.984000	0.03507	-4.296000	0.00007	CGT		0.433	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2		
ZNF345	25850	broad.mit.edu	37	19	37368940	37368940	+	Missense_Mutation	SNP	G	G	C			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:37368940G>C	ENST00000529555.1	+	2	1996	c.1208G>C	c.(1207-1209)tGt>tCt	p.C403S	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.C403S|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.C403S			Q14585	ZN345_HUMAN	zinc finger protein 345	403					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTAAAGAATGTGGAAAGTCC	0.418																																						uc002oex.3																			0		p.E402Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24						c.(1207-1209)tGt>tCt		Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.							83.0	80.0	81.0					19																	37368940		2203	4300	6503	SO:0001583	missense	25850				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	g.chr19:37368940G>C	X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"""Zinc fingers, C2H2-type"""	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.1208G>C	19.37:g.37368940G>C	ENSP00000431202:p.Cys403Ser					ZNF345_uc021utn.1_Missense_Mutation_p.C403S|ZNF345_uc002oey.4_Missense_Mutation_p.C403S|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.C403S|ZNF345_uc021utp.1_Missense_Mutation_p.C403S|ZNF345_uc021utq.1_Missense_Mutation_p.C403S	p.C403S	NM_003419	NP_003410	Q14585	ZN345_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	1589	+	Esophageal squamous(110;0.183)		403						Missense_Mutation	SNP	ENST00000529555.1	37	c.1208G>C	CCDS12497.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715571	0.48622	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	D;D	0.85861	-2.04;-2.04	3.93	2.89	0.33648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92254	0.7543	M	0.92317	3.295	0.27128	N	0.961965	D	0.63880	0.993	P	0.61533	0.89	D	0.84148	0.0421	9	0.87932	D	0	.	9.246	0.37527	0.1124:0.0:0.8876:0.0	.	403	Q14585	ZN345_HUMAN	S	403;403;167	ENSP00000431216:C403S;ENSP00000431202:C403S	ENSP00000442320:C167S	C	+	2	0	ZNF345	42060780	1.000000	0.71417	0.994000	0.49952	0.688000	0.40055	5.898000	0.69838	2.162000	0.67917	0.561000	0.74099	TGT		0.418	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388258.1		
KLC3	147700	broad.mit.edu	37	19	45849928	45849929	+	Frame_Shift_Ins	INS	-	-	G	rs141629020		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:45849928_45849929insG	ENST00000391946.2	+	3	487_488	c.385_386insG	c.(385-387)cggfs	p.R129fs	KLC3_ENST00000470402.1_Frame_Shift_Ins_p.R143fs|KLC3_ENST00000585434.1_Frame_Shift_Ins_p.R129fs	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	129					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GACGCAGCGGCGGCTTCGGGCC	0.713																																						uc002pbg.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8						c.(427-429)cggfs		Homo sapiens kinesin light chain 3 (KLC3), mRNA.																																				SO:0001589	frameshift_variant	147700					cytoplasm|kinesin complex|microtubule	microtubule motor activity	g.chr19:45849928_45849929insG	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"""Tetratricopeptide (TTC) repeat domain containing"""	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.387dupG	19.37:g.45849930_45849930dupG	ENSP00000375810:p.Arg129fs					KLC3_uc002pbe.3_Frame_Shift_Ins_p.R129fs|KLC3_uc002pbf.1_Frame_Shift_Ins_p.R129fs|KLC3_uc010ejy.1_Frame_Shift_Ins_p.R129fs	p.R143fs	NM_177417	NP_803136	Q6P597	KLC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	1	527_528	+		Ovarian(192;0.0728)|all_neural(266;0.112)	129					A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Frame_Shift_Ins	INS	ENST00000391946.2	37	c.427_428insG	CCDS12660.2																																																																																				0.713	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1	NM_145275	
KIR3DL1	3811	broad.mit.edu	37	19	55341632	55341632	+	Missense_Mutation	SNP	C	C	T	rs573252093		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:55341632C>T	ENST00000391728.4	+	9	1270	c.1237C>T	c.(1237-1239)Cgc>Tgc	p.R413C	KIR3DL1_ENST00000538269.1_Missense_Mutation_p.R413C|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.R318C|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.R396C|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.R396C|KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000402254.2_Intron	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	413					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AAAAATCACTCGCCCTTCTCA	0.507													.|||	1	0.000199681	0.0008	0.0	5008	,	,		15489	0.0		0.0	False		,,,				2504	0.0					uc002qhm.1																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23								Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.							248.0	235.0	240.0					19																	55341632		2174	4167	6341	SO:0001583	missense	3811				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55341632C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1237C>T	19.37:g.55341632C>T	ENSP00000375608:p.Arg413Cys					KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.R413C|KIR3DL2_uc010esf.3_Missense_Mutation_p.R318C|KIR3DL2_uc021vbo.1_Missense_Mutation_p.R396C|KIR3DL2_uc002qhk.4_Missense_Mutation_p.R413C|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_5'Flank		NM_012314	NP_036446	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)			+								O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37		CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	2.778	-0.254123	0.05829	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T	0.00482	7.15;7.1;7.15;7.1;7.16	0.569	0.569	0.17340	.	.	.	.	.	T	0.00384	0.0012	L	0.48174	1.505	0.09310	N	1	B;B;B	0.16166	0.006;0.016;0.004	B;B;B	0.09377	0.004;0.004;0.002	T	0.37056	-0.9722	8	0.48119	T	0.1	.	.	.	.	.	396;318;413	Q15702;Q14946;P43629	.;.;KI3L1_HUMAN	C	413;396;391;413;396;318	ENSP00000443350:R413C;ENSP00000442355:R396C;ENSP00000375608:R413C;ENSP00000326868:R396C;ENSP00000350901:R318C	ENSP00000326868:R396C	R	+	1	0	KIR3DL1	60033444	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	0.678000	0.25277	0.567000	0.29293	0.184000	0.17185	CGC		0.507	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289	
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_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																			10	Substitution - Missense(10)	p.D404E(20)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		Homo sapiens zinc finger protein 814 (ZNF814), mRNA.							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.2_Intron	p.D404E	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			2	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	
LHCGR	3973	broad.mit.edu	37	2	48960045	48960045	+	Intron	SNP	G	G	C	rs374481158		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr2:48960045G>C	ENST00000294954.7	-	2	183				STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Intron|LHCGR_ENST00000405626.1_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor						activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TTCCCAAGAAGGACATCGTTT	0.363																																						uc021vhf.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91								Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 2, mRNA.		G	,	0,3720		0,0,1860	145.0	130.0	135.0		,	3.7	0.0	2		135	1,8187		0,1,4093	no	intron,intron	LHCGR,STON1-GTF2A1L	NM_000233.3,NM_001198593.1	,	0,1,5953	CC,CG,GG		0.0122,0.0,0.0084	,	,	48960045	1,11907	1860	4094	5954	SO:0001627	intron_variant	11036				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48960045G>C		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.162-1608C>G	2.37:g.48960045G>C						LHCGR_uc002rwu.4_Intron|LHCGR_uc002rwv.2_Intron		NM_001198593	NP_001185522	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)				+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)						Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37		CCDS1842.1	.	.	.	.	.	.	.	.	.	.	G	9.993	1.231445	0.22626	0.0	1.22E-4	ENSG00000242441	ENST00000508440	.	.	.	5.84	3.72	0.42706	.	.	.	.	.	T	0.36580	0.0972	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.19516	-1.0303	4	.	.	.	.	8.8145	0.34987	0.1962:0.0:0.8038:0.0	.	.	.	.	T	97	.	.	R	+	2	0	GTF2A1L	48813549	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	0.114000	0.15520	1.477000	0.48234	0.655000	0.94253	AGG		0.363	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3	
DPP10	57628	broad.mit.edu	37	2	116548904	116548904	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr2:116548904C>T	ENST00000410059.1	+	19	2152	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	DPP10_ENST00000409163.1_Nonsense_Mutation_p.R508*|DPP10_ENST00000310323.8_Nonsense_Mutation_p.R551*|DPP10_ENST00000393147.2_Nonsense_Mutation_p.R562*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	558						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTTATGGACCGAAACCAGTA	0.289																																						uc002tle.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1684-1686)Cga>Tga		Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.							94.0	97.0	96.0					2																	116548904		2203	4298	6501	SO:0001587	stop_gained	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116548904C>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1672C>T	2.37:g.116548904C>T	ENSP00000386565:p.Arg558*					DPP10_uc002tla.2_Nonsense_Mutation_p.R558*|DPP10_uc002tlb.2_Nonsense_Mutation_p.R508*|DPP10_uc002tlc.2_Nonsense_Mutation_p.R554*|DPP10_uc002tlf.2_Nonsense_Mutation_p.R551*	p.R562*	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN			18	1705	+			558					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Nonsense_Mutation	SNP	ENST00000410059.1	37	c.1684C>T	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	40	8.330808	0.98764	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	.	.	.	5.54	2.6	0.31112	.	0.316995	0.31495	N	0.007545	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-24.4944	9.7865	0.40679	0.238:0.6331:0.1289:0.0	.	.	.	.	X	558;508;562;551;508	.	ENSP00000309066:R551X	R	+	1	2	DPP10	116265374	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	1.438000	0.35002	0.366000	0.24427	0.650000	0.86243	CGA		0.289	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868	
NCL	4691	broad.mit.edu	37	2	232325239	232325239	+	Missense_Mutation	SNP	T	T	C			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr2:232325239T>C	ENST00000322723.4	-	5	1088	c.848A>G	c.(847-849)gAa>gGa	p.E283G	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	283					angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTTGGCCATTTCCTTCTTTCG	0.433																																						uc002vru.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35						c.(847-849)gAa>gGa		Homo sapiens nucleolin (NCL), mRNA.							201.0	177.0	185.0					2																	232325239		2203	4300	6503	SO:0001583	missense	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232325239T>C		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.848A>G	2.37:g.232325239T>C	ENSP00000318195:p.Glu283Gly					SNORD82_uc010fxw.1_5'Flank	p.E283G	NM_005381	NP_005372	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	4	989	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	283					Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	c.848A>G	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198255	0.79015	.	.	ENSG00000115053	ENST00000322723;ENST00000392033	T	0.25085	1.82	5.36	5.36	0.76844	.	0.141244	0.64402	D	0.000005	T	0.48995	0.1531	M	0.75264	2.295	0.80722	D	1	D	0.67145	0.996	P	0.62740	0.906	T	0.53837	-0.8382	10	0.87932	D	0	-16.4532	14.5804	0.68284	0.0:0.0:0.0:1.0	.	283	P19338	NUCL_HUMAN	G	283;175	ENSP00000318195:E283G	ENSP00000318195:E283G	E	-	2	0	NCL	232033483	1.000000	0.71417	0.941000	0.38009	0.493000	0.33554	6.870000	0.75526	2.033000	0.60031	0.524000	0.50904	GAA		0.433	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381	
TOP1	7150	broad.mit.edu	37	20	39726941	39726941	+	Silent	SNP	G	G	A	rs369208633		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr20:39726941G>A	ENST00000361337.2	+	11	1189	c.939G>A	c.(937-939)acG>acA	p.T313T	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	313					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	AAGCCCAGACGGAAGCTCGGA	0.368			T	NUP98	AML*																																	uc002xjl.3				Dom	yes		20	20q12-q13.1	7150	T	topoisomerase (DNA) I			L	NUP98		AML*		0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(937-939)acG>acA		Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	G		1,4405	2.1+/-5.4	0,1,2202	83.0	83.0	83.0		939	-2.3	0.8	20		83	0,8600		0,0,4300	no	coding-synonymous	TOP1	NM_003286.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		313/766	39726941	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7150				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	g.chr20:39726941G>A		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.939G>A	20.37:g.39726941G>A							p.T313T	NM_003286	NP_003277	P11387	TOP1_HUMAN			10	1185	+		Myeloproliferative disorder(115;0.00878)	313					A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Silent	SNP	ENST00000361337.2	37	c.939G>A	CCDS13312.1																																																																																				0.368	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2		
SLC12A5	57468	broad.mit.edu	37	20	44665416	44665416	+	Missense_Mutation	SNP	A	A	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr20:44665416A>G	ENST00000454036.2	+	5	581	c.532A>G	c.(532-534)Acg>Gcg	p.T178A	SLC12A5_ENST00000372315.1_Missense_Mutation_p.T155A|SLC12A5_ENST00000608944.1_Missense_Mutation_p.T104A|SLC12A5_ENST00000243964.3_Missense_Mutation_p.T155A	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	178					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCAATTGCAACGAATGGTGT	0.612																																						uc010zxl.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(532-534)Acg>Gcg		Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	Bumetanide(DB00887)|Potassium Chloride(DB00761)						153.0	114.0	127.0					20																	44665416		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44665416A>G	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.532A>G	20.37:g.44665416A>G	ENSP00000387694:p.Thr178Ala					SLC12A5_uc002xra.2_Missense_Mutation_p.T155A|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.T155A	p.T178A	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			4	608	+		Myeloproliferative disorder(115;0.0122)	178					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.532A>G	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	A	13.49	2.251290	0.39797	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000539566;ENST00000243964	D;D;D;D	0.98914	-5.23;-5.23;-5.23;-5.23	4.65	3.54	0.40534	Amino acid permease domain (1);	0.059462	0.64402	D	0.000003	D	0.99399	0.9788	H	0.98754	4.32	0.80722	D	1	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.66716	0.946;0.911;0.946	D	0.98423	1.0578	10	0.87932	D	0	.	9.9308	0.41521	0.8477:0.0:0.0:0.1523	.	178;155;155	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	A	178;155;155;155	ENSP00000387694:T178A;ENSP00000361389:T155A;ENSP00000446091:T155A;ENSP00000243964:T155A	ENSP00000243964:T155A	T	+	1	0	SLC12A5	44098823	1.000000	0.71417	0.992000	0.48379	0.042000	0.13812	9.006000	0.93592	0.792000	0.33850	-0.490000	0.04691	ACG		0.612	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		
TFF2	7032	broad.mit.edu	37	21	43767708	43767708	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr21:43767708C>T	ENST00000291526.4	-	3	433	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	TFF2_ENST00000475297.1_5'UTR	NM_005423.4	NP_005414.1	Q03403	TFF2_HUMAN	trefoil factor 2	88	P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				calcium-mediated signaling (GO:0019722)|chemokine-mediated signaling pathway (GO:0070098)|digestion (GO:0007586)|negative regulation of gastric acid secretion (GO:0060455)|negative regulation of inflammatory response (GO:0050728)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				large_intestine(1)|pancreas(1)|urinary_tract(1)	3						ACAGTTTCTTCGGTCTGAGAC	0.602																																						uc002zaw.3																			0				large_intestine(1)|pancreas(1)|urinary_tract(1)	3						c.(262-264)cGa>cAa		Homo sapiens trefoil factor 2 (TFF2), mRNA.							76.0	65.0	69.0					21																	43767708		2203	4300	6503	SO:0001583	missense	7032				digestion	extracellular region		g.chr21:43767708C>T		CCDS13684.1	21q22.3	2008-07-28	2008-07-28		ENSG00000160181	ENSG00000160181			11756	protein-coding gene	gene with protein product		182590	"""spasmolytic protein 1"""	SML1		1505966, 9043862	Standard	NM_005423		Approved		uc002zaw.3	Q03403	OTTHUMG00000086797	ENST00000291526.4:c.263G>A	21.37:g.43767708C>T	ENSP00000291526:p.Arg88Gln						p.R88Q	NM_005423	NP_005414	Q03403	TFF2_HUMAN			2	405	-			88			P-type 2.		Q15854	Missense_Mutation	SNP	ENST00000291526.4	37	c.263G>A	CCDS13684.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754229	0.69648	.	.	ENSG00000160181	ENST00000291526	T	0.76968	-1.06	4.2	4.2	0.49525	P-type trefoil, conserved site (1);P-type trefoil (5);	0.000000	0.52532	D	0.000062	D	0.90304	0.6967	H	0.94808	3.585	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83355	-0.0001	9	.	.	.	-18.2562	12.285	0.54788	0.0:1.0:0.0:0.0	.	88	Q03403	TFF2_HUMAN	Q	88	ENSP00000291526:R88Q	.	R	-	2	0	TFF2	42640777	0.044000	0.20184	0.022000	0.16811	0.010000	0.07245	2.020000	0.41010	2.345000	0.79718	0.650000	0.86243	CGA		0.602	TFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195355.1	NM_005423	
KRTAP10-2	386679	broad.mit.edu	37	21	45970888	45970888	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr21:45970888C>T	ENST00000391621.1	-	1	500	c.454G>A	c.(454-456)Gtg>Atg	p.V152M	TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	152	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						CAGGTGGGCACGCAGCACACA	0.617																																						uc002zfi.1																			0				large_intestine(1)|lung(4)|skin(1)	6						c.(454-456)Gtg>Atg		Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.							128.0	128.0	128.0					21																	45970888		2203	4300	6503	SO:0001583	missense	386679					keratin filament		g.chr21:45970888C>T	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.454G>A	21.37:g.45970888C>T	ENSP00000375479:p.Val152Met					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.V152M	NM_198693	NP_941966	P60368	KR102_HUMAN			0	501	-			152			22 X 5 AA repeats of C-C-X(3).		Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	c.454G>A	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	c	7.675	0.687892	0.14973	.	.	ENSG00000205445	ENST00000391621	T	0.00678	5.87	3.1	-3.29	0.05017	.	.	.	.	.	T	0.00815	0.0027	M	0.65498	2.005	0.09310	N	1	P	0.39116	0.66	B	0.32762	0.152	T	0.35847	-0.9772	9	0.49607	T	0.09	.	1.2778	0.02034	0.162:0.1803:0.1611:0.4967	.	152	P60368	KR102_HUMAN	M	152	ENSP00000375479:V152M	ENSP00000375479:V152M	V	-	1	0	KRTAP10-2	44795316	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.034000	0.01424	-0.793000	0.04475	-0.390000	0.06520	GTG		0.617	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1		
KRTAP10-7	386675	broad.mit.edu	37	21	46021573	46021573	+	Missense_Mutation	SNP	T	T	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr21:46021573T>G	ENST00000380102.2	+	1	1077	c.1052T>G	c.(1051-1053)gTg>gGg	p.V351G	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	351	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCCTCCTGTGTGTCTCTCCTT	0.672																																						uc002zfn.4																			0				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1036-1038)gTg>gGg		Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.							33.0	38.0	37.0					21																	46021573		2190	4278	6468	SO:0001583	missense	386675					keratin filament		g.chr21:46021573T>G	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.1052T>G	21.37:g.46021573T>G	ENSP00000369445:p.Val351Gly					TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.V346G	NM_198689	NP_941962	P60409	KR107_HUMAN			1	1062	+			351			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	ENST00000380102.2	37	c.1037T>G		.	.	.	.	.	.	.	.	.	.	t	6.513	0.462906	0.12402	.	.	ENSG00000205441	ENST00000380102	T	0.00724	5.78	3.89	3.89	0.44902	.	.	.	.	.	T	0.01029	0.0034	M	0.71036	2.16	0.51233	D	0.999919	P	0.37101	0.582	B	0.31686	0.134	T	0.65874	-0.6062	9	0.29301	T	0.29	.	6.8316	0.23913	0.2076:0.0:0.0:0.7924	.	346	P60409-2	.	G	351	ENSP00000369445:V351G	ENSP00000369445:V351G	V	+	2	0	KRTAP10-7	44846001	0.996000	0.38824	0.991000	0.47740	0.068000	0.16541	1.864000	0.39469	1.538000	0.49270	0.383000	0.25322	GTG		0.672	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
CDC42EP1	11135	broad.mit.edu	37	22	37964570	37964570	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr22:37964570G>A	ENST00000249014.4	+	3	1339	c.919G>A	c.(919-921)Ggg>Agg	p.G307R		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	307					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCCAGTGGGAGGGGGTCCCCG	0.692																																						uc003asz.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15						c.(919-921)Ggg>Agg		Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.							16.0	16.0	16.0					22																	37964570		2193	4296	6489	SO:0001583	missense	11135				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding	g.chr22:37964570G>A	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.919G>A	22.37:g.37964570G>A	ENSP00000249014:p.Gly307Arg						p.G307R	NM_152243	NP_689449	Q00587	BORG5_HUMAN			2	1322	+	Melanoma(58;0.0574)		307					A8K825|Q96GN1	Missense_Mutation	SNP	ENST00000249014.4	37	c.919G>A	CCDS13949.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390338	0.42410	.	.	ENSG00000128283	ENST00000249014	T	0.28895	1.59	4.9	3.88	0.44766	.	1.317480	0.05133	N	0.492842	T	0.17492	0.0420	N	0.08118	0	0.09310	N	1	B	0.18863	0.031	B	0.11329	0.006	T	0.22382	-1.0218	10	0.20519	T	0.43	-19.0437	7.7164	0.28706	0.0908:0.1764:0.7328:0.0	.	307	Q00587	BORG5_HUMAN	R	307	ENSP00000249014:G307R	ENSP00000249014:G307R	G	+	1	0	CDC42EP1	36294516	0.869000	0.29996	0.002000	0.10522	0.040000	0.13550	5.519000	0.67074	1.188000	0.43014	0.561000	0.74099	GGG		0.692	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318993.1	NM_152243	
SUSD5	26032	broad.mit.edu	37	3	33194586	33194586	+	Missense_Mutation	SNP	G	G	A	rs372702857		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:33194586G>A	ENST00000309558.3	-	5	1955	c.1538C>T	c.(1537-1539)aCg>aTg	p.T513M		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	513					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGCCATGATCGTTGAGGGGAT	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21630	0.0		0.0	False		,,,				2504	0.0					uc003cfo.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1537-1539)aCg>aTg		Homo sapiens sushi domain containing 5 (SUSD5), mRNA.		G	MET/THR	3,4107		0,3,2052	171.0	181.0	177.0		1538	2.8	0.0	3		177	0,8410		0,0,4205	no	missense	SUSD5	NM_015551.1	81	0,3,6257	AA,AG,GG		0.0,0.073,0.024	possibly-damaging	513/630	33194586	3,12517	2055	4205	6260	SO:0001583	missense	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33194586G>A	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1538C>T	3.37:g.33194586G>A	ENSP00000308727:p.Thr513Met						p.T513M	NM_015551	NP_056366	O60279	SUSD5_HUMAN			4	1956	-			513						Missense_Mutation	SNP	ENST00000309558.3	37	c.1538C>T	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	G	9.059	0.994069	0.19043	7.3E-4	0.0	ENSG00000173705	ENST00000309558	T	0.08193	3.12	5.56	2.75	0.32379	.	0.843298	0.10411	N	0.677863	T	0.14830	0.0358	L	0.57536	1.79	0.09310	N	1	D	0.76494	0.999	P	0.53689	0.732	T	0.18429	-1.0337	10	0.39692	T	0.17	-6.4031	5.0228	0.14370	0.0719:0.3327:0.4103:0.1852	.	513	O60279	SUSD5_HUMAN	M	513	ENSP00000308727:T513M	ENSP00000308727:T513M	T	-	2	0	SUSD5	33169590	0.067000	0.21026	0.015000	0.15790	0.253000	0.25986	1.843000	0.39259	0.280000	0.22209	-0.133000	0.14855	ACG		0.522	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054	
VILL	50853	broad.mit.edu	37	3	38048114	38048114	+	Missense_Mutation	SNP	G	G	T	rs376387498		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:38048114G>T	ENST00000283713.6	+	19	2646	c.2380G>T	c.(2380-2382)Ggg>Tgg	p.G794W	VILL_ENST00000383759.2_Missense_Mutation_p.G794W|VILL_ENST00000465644.1_Missense_Mutation_p.G512W			O15195	VILL_HUMAN	villin-like	794	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CACGATCAACGGGGGCCTGCG	0.672																																						uc003chj.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(2380-2382)Ggg>Tgg		Homo sapiens villin-like (VILL), mRNA.							28.0	34.0	32.0					3																	38048114		2202	4296	6498	SO:0001583	missense	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38048114G>T		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2380G>T	3.37:g.38048114G>T	ENSP00000283713:p.Gly794Trp					VILL_uc003chl.3_Missense_Mutation_p.G794W	p.G794W	NM_015873	NP_056957	O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	18	2666	+			794			HP.		A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	c.2380G>T	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	g	13.28	2.191082	0.38707	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.15603	2.5;2.5;2.41	4.19	0.15	0.14883	Villin headpiece (3);	1.006310	0.07981	N	0.985590	T	0.28433	0.0703	L	0.36672	1.1	0.09310	N	1	D	0.76494	0.999	D	0.72338	0.977	T	0.31833	-0.9929	10	0.44086	T	0.13	-9.9622	8.6807	0.34207	0.3641:0.0:0.6359:0.0	.	794	O15195	VILL_HUMAN	W	794;794;780;512	ENSP00000283713:G794W;ENSP00000373266:G794W;ENSP00000422096:G512W	ENSP00000283713:G794W	G	+	1	0	VILL	38023118	0.007000	0.16637	0.001000	0.08648	0.005000	0.04900	1.560000	0.36331	0.055000	0.16094	-0.378000	0.06908	GGG		0.672	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873	
SHISA5	51246	broad.mit.edu	37	3	48510545	48510545	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:48510545G>A	ENST00000296444.2	-	6	1020	c.684C>T	c.(682-684)taC>taT	p.Y228Y	SHISA5_ENST00000444115.1_Silent_p.Y197Y|SHISA5_ENST00000465449.1_5'UTR|SHISA5_ENST00000442747.1_Silent_p.Y197Y|SHISA5_ENST00000443308.2_Silent_p.Y221Y|SHISA5_ENST00000426002.1_Silent_p.Y125Y	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	228	Pro-rich.				intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			large_intestine(1)|lung(1)	2						AGGCCGGGTTGTAAGGAGGCT	0.637																																						uc003ctp.1																			0				large_intestine(1)|lung(1)	2						c.(682-684)taC>taT		Homo sapiens shisa homolog 5 (Xenopus laevis) (SHISA5), mRNA.							53.0	54.0	54.0					3																	48510545		2203	4300	6503	SO:0001819	synonymous_variant	51246				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding	g.chr3:48510545G>A	AF520698	CCDS2770.1, CCDS63621.1, CCDS63622.1, CCDS63623.1	3p21.31	2013-07-31	2013-07-31		ENSG00000164054	ENSG00000164054		"""Shisa homologs"""	30376	protein-coding gene	gene with protein product		607290	"""shisa homolog 5 (Xenopus laevis)"""			11042152, 12135983	Standard	NM_016479		Approved	SCOTIN, hShisa5	uc011bbk.1	Q8N114	OTTHUMG00000133529	ENST00000296444.2:c.684C>T	3.37:g.48510545G>A						SHISA5_uc003ctm.2_Silent_p.Y125Y|SHISA5_uc011bbk.1_Nonsense_Mutation_p.Q137*|SHISA5_uc011bbl.2_Silent_p.Y126Y|SHISA5_uc003cto.1_Silent_p.Y197Y|SHISA5_uc003cts.1_Silent_p.Y197Y|SHISA5_uc003ctt.3_3'UTR	p.Y228Y	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN			5	818	-			228			Pro-rich.		B3KW99|F8W9N8|Q69YY9|Q7Z433|Q8NHL9|Q96MW8|Q9BV58	Silent	SNP	ENST00000296444.2	37	c.684C>T	CCDS2770.1	.	.	.	.	.	.	.	.	.	.	G	9.520	1.108034	0.20714	.	.	ENSG00000164054	ENST00000536074	.	.	.	5.05	2.24	0.28232	.	.	.	.	.	T	0.63141	0.2486	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63435	-0.6638	5	0.87932	D	0	-14.7121	7.7368	0.28819	0.2855:0.0:0.7145:0.0	.	.	.	.	I	49	.	ENSP00000445956:T49I	T	-	2	0	SHISA5	48485549	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.114000	0.41911	0.642000	0.30620	0.563000	0.77884	ACA		0.637	SHISA5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257504.3	NM_016479	
POC1A	25886	broad.mit.edu	37	3	52156395	52156395	+	Splice_Site	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:52156395C>T	ENST00000296484.2	-	9	1020	c.981G>A	c.(979-981)ctG>ctA	p.L327L	POC1A_ENST00000474012.1_Splice_Site_p.L289L|POC1A_ENST00000394970.2_Splice_Site_p.L327L	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	327					cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						AGCCACTTACCAGATTCCCCA	0.547																																						uc003dcu.3																			0				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						c.e9+1		Homo sapiens POC1 centriolar protein homolog A (Chlamydomonas) (POC1A), transcript variant 1, mRNA.							64.0	60.0	61.0					3																	52156395		2203	4300	6503	SO:0001630	splice_region_variant	25886					centriole|microtubule basal body		g.chr3:52156395C>T	AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"""WD repeat domain containing"""	24488	protein-coding gene	gene with protein product		614783	"""WD repeat domain 51A"", ""POC1 centriolar protein homolog A (Chlamydomonas)"""	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.981+1G>A	3.37:g.52156395C>T						POC1A_uc003dcv.3_Splice_Site_p.L289_splice|POC1A_uc003dcw.3_Splice_Site_p.L327_splice	p.L327_splice	NM_015426	NP_001155053	Q8NBT0	POC1A_HUMAN			9	1299	-			327					A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Silent	SNP	ENST00000296484.2	37	c.981_splice	CCDS2846.1																																																																																				0.547	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349685.1	NM_015426	Silent
EPHA6	285220	broad.mit.edu	37	3	97124120	97124120	+	Splice_Site	SNP	T	T	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:97124120T>A	ENST00000389672.5	+	6	1769		c.e6+2			NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6							integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TATGAGAAAGTAGGTCTTATT	0.353																																						uc010how.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.e6+2		Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.							56.0	52.0	53.0					3																	97124120		1830	4075	5905	SO:0001630	splice_region_variant	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97124120T>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1731+2T>A	3.37:g.97124120T>A							p.K577_splice	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			6	1774	+			482					D6RAL5	Splice_Site	SNP	ENST00000389672.5	37	c.1731_splice	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.742208	0.89573	.	.	ENSG00000080224	ENST00000389672	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7258	0.77756	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHA6	98606810	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.542000	0.82095	2.123000	0.65237	0.528000	0.53228	.		0.353	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448	Intron
IMPG2	50939	broad.mit.edu	37	3	100964883	100964883	+	Missense_Mutation	SNP	C	C	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:100964883C>G	ENST00000193391.7	-	12	1493	c.1306G>C	c.(1306-1308)Gat>Cat	p.D436H		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	436					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)	GAGCTGAAATCAAGTGGTGGA	0.468																																						uc003duq.2																			0				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						c.(1306-1308)Gat>Cat		Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.							96.0	107.0	103.0					3																	100964883		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100964883C>G	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.1306G>C	3.37:g.100964883C>G	ENSP00000193391:p.Asp436His					IMPG2_uc011bhe.2_Missense_Mutation_p.D299H	p.D436H	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			11	1509	-			436					A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.1306G>C	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408752	0.83340	.	.	ENSG00000081148	ENST00000193391	T	0.32515	1.45	6.03	6.03	0.97812	.	0.215436	0.39985	N	0.001217	T	0.44159	0.1280	L	0.27053	0.805	0.34146	D	0.666948	D;D	0.76494	0.999;0.999	D;D	0.65573	0.936;0.909	T	0.52609	-0.8553	10	0.72032	D	0.01	-5.6416	18.7374	0.91761	0.0:1.0:0.0:0.0	.	436;436	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	H	436	ENSP00000193391:D436H	ENSP00000193391:D436H	D	-	1	0	IMPG2	102447573	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.168000	0.50801	2.861000	0.98227	0.655000	0.94253	GAT		0.468	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3		
CASR	846	broad.mit.edu	37	3	122003194	122003194	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:122003194C>T	ENST00000490131.1	+	7	2765	c.2393C>T	c.(2392-2394)cCg>cTg	p.P798L	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000498619.1_Missense_Mutation_p.P808L|CASR_ENST00000296154.5_Missense_Mutation_p.P798L	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	798					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CGGAAGCTGCCGGAGAACTTC	0.552																																						uc003eew.4																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2422-2424)cCg>cTg		Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	Cinacalcet(DB01012)						55.0	53.0	53.0					3																	122003194		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003194C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.2393C>T	3.37:g.122003194C>T	ENSP00000418685:p.Pro798Leu					CASR_uc003eev.4_Missense_Mutation_p.P798L	p.P808L	NM_001178065	NP_001171536	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	6	2861	+			798					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.2423C>T	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280344	0.80692	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89875	-2.58;-2.58;-2.58	6.04	6.04	0.98038	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96911	0.8991	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97612	1.0130	10	0.87932	D	0	.	19.5674	0.95401	0.0:1.0:0.0:0.0	.	808;798	E7ENE0;P41180	.;CASR_HUMAN	L	798;808;798	ENSP00000418685:P798L;ENSP00000420194:P808L;ENSP00000296154:P798L	ENSP00000296154:P798L	P	+	2	0	CASR	123485884	1.000000	0.71417	0.974000	0.42286	0.932000	0.56968	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	CCG		0.552	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388	
PLXNA1	5361	broad.mit.edu	37	3	126708342	126708342	+	Silent	SNP	C	C	T	rs372794860	byFrequency	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:126708342C>T	ENST00000393409.2	+	1	906	c.906C>T	c.(904-906)tgC>tgT	p.C302C	PLXNA1_ENST00000251772.4_Silent_p.C279C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	302	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCATTGGCTGCGAGCAGGCGG	0.662													C|||	17	0.00339457	0.0	0.0	5008	,	,		18615	0.0169		0.0	False		,,,				2504	0.0					uc003ejg.3																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(904-906)tgC>tgT		Homo sapiens plexin A1 (PLXNA1), mRNA.		C		0,4404		0,0,2202	140.0	146.0	144.0		906	-3.8	0.9	3		144	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PLXNA1	NM_032242.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		302/1897	126708342	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126708342C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.906C>T	3.37:g.126708342C>T							p.C302C	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	0	906	+			302			Sema.			Silent	SNP	ENST00000393409.2	37	c.906C>T	CCDS33847.2																																																																																				0.662	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242	
THPO	7066	broad.mit.edu	37	3	184090840	184090840	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:184090840G>A	ENST00000204615.7	-	6	737	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Intron|THPO_ENST00000477594.1_Intron|THPO_ENST00000445696.2_Missense_Mutation_p.R171W	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	175					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTGGGGCCCGCCTGACGCAG	0.562																																						uc003fol.1																			0				NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(523-525)Cgg>Tgg		Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.							76.0	81.0	79.0					3																	184090840		2203	4300	6503	SO:0001583	missense	7066				cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity	g.chr3:184090840G>A		CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"""Endogenous ligands"""	11795	protein-coding gene	gene with protein product	"""prepro-thrombopoietin"", ""megakaryocyte stimulating factor"", ""myeloproliferative leukemia virus oncogene ligand"", ""megakaryocyte growth and development factor"", ""MPL ligand"", ""megakaryocyte colony-stimulating factor"", ""c-mpl ligand"", ""thrombopoietin nirs variant 1"""	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.523C>T	3.37:g.184090840G>A	ENSP00000204615:p.Arg175Trp					THPO_uc003fom.2_Missense_Mutation_p.R171W|THPO_uc021xii.1_Missense_Mutation_p.A169V|THPO_uc003fon.3_Intron|THPO_uc011bro.2_Intron|THPO_uc003fop.3_Intron|THPO_uc011brp.2_Intron|THPO_uc011brq.2_Intron|THPO_uc003for.1_Intron|THPO_uc003fos.1_Intron	p.R175W	NM_000460	NP_000451	P40225	TPO_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	738	-	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		175					A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Missense_Mutation	SNP	ENST00000204615.7	37	c.523C>T	CCDS3265.1	.	.	.	.	.	.	.	.	.	.	g	16.85	3.236677	0.58886	.	.	ENSG00000090534	ENST00000204615;ENST00000445696	T;T	0.47869	0.83;0.83	4.32	4.32	0.51571	Four-helical cytokine, core (1);	0.337248	0.21781	N	0.069204	T	0.47040	0.1424	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.57425	0.725;0.82	T	0.51718	-0.8670	10	0.87932	D	0	-10.7468	12.1905	0.54268	0.0:0.0:1.0:0.0	.	171;175	P40225-2;P40225	.;TPO_HUMAN	W	175;171	ENSP00000204615:R175W;ENSP00000410763:R171W	ENSP00000204615:R175W	R	-	1	2	THPO	185573534	1.000000	0.71417	0.802000	0.32245	0.665000	0.39181	2.734000	0.47368	2.240000	0.73641	0.454000	0.30748	CGG		0.562	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345554.1	NM_000460	
DEFB131	644414	broad.mit.edu	37	4	9452176	9452176	+	Frame_Shift_Del	DEL	G	G	-			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr4:9452176delG	ENST00000334879.1	+	2	149	c.149delG	c.(148-150)tgtfs	p.C50fs		NM_001040448.2|NM_001242853.1	NP_001035538.2|NP_001229782.1	P59861	DB131_HUMAN	defensin, beta 131	50					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				lung(2)	2						ATTAGATACTGTGCTGACTTC	0.383																																						uc011bwt.2																			0				lung(2)	2						c.(148-150)tgtfs		Homo sapiens defensin, beta 131 (DEFB131), mRNA.							43.0	35.0	38.0					4																	9452176		1855	4098	5953	SO:0001589	frameshift_variant	644414				defense response to bacterium	extracellular region		g.chr4:9452176delG	AF529414	CCDS43213.1	4p16.1	2010-03-30			ENSG00000186146	ENSG00000186146		"""Defensins, beta"""	18108	protein-coding gene	gene with protein product						11854508, 16033865, 12600824	Standard	NM_001040448		Approved	DEFB-31	uc011bwt.2	P59861	OTTHUMG00000160187	ENST00000334879.1:c.149delG	4.37:g.9452176delG	ENSP00000335538:p.Cys50fs						p.C50fs	NM_001040448	NP_001035538	P59861	DB131_HUMAN			1	149	+			50						Frame_Shift_Del	DEL	ENST00000334879.1	37	c.149delG	CCDS43213.1																																																																																				0.383	DEFB131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359607.1	NM_001040448	
PLEKHG4B	153478	broad.mit.edu	37	5	163559	163559	+	Silent	SNP	G	G	A	rs114260538	byFrequency	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:163559G>A	ENST00000283426.6	+	11	2354	c.2304G>A	c.(2302-2304)ccG>ccA	p.P768P		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	768							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P768P(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGAAGCTCCCGCTGTGGCAGC	0.652													G|||	4	0.000798722	0.0	0.0029	5008	,	,		15776	0.001		0.0	False		,,,				2504	0.001					uc003jak.2																			1	Substitution - coding silent(1)	p.P768P(1)	lung(1)	endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11						c.(2302-2304)ccG>ccA		Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.		G		0,4404		0,0,2202	34.0	40.0	38.0		2304	-1.1	0.0	5	dbSNP_132	38	1,8595		0,1,4297	no	coding-synonymous	PLEKHG4B	NM_052909.3		0,1,6499	AA,AG,GG		0.0116,0.0,0.0077		768/1272	163559	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:163559G>A	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2304G>A	5.37:g.163559G>A							p.P768P	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	10	2354	+			768						Silent	SNP	ENST00000283426.6	37	c.2304G>A	CCDS34124.1																																																																																				0.652	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909	
MAST4	375449	broad.mit.edu	37	5	65892596	65892596	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:65892596C>T	ENST00000403625.2	+	1	408	c.113C>T	c.(112-114)tCg>tTg	p.S38L	MAST4_ENST00000404260.3_Missense_Mutation_p.S38L|MAST4_ENST00000406039.1_Missense_Mutation_p.S38L|MAST4_ENST00000406374.1_Missense_Mutation_p.S38L	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	38						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGTGCTTCCTCGGCCGAGTCC	0.731																																						uc021xzk.1																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(112-114)tCg>tTg		Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.							6.0	7.0	7.0					5																	65892596		1752	3929	5681	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:65892596C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.113C>T	5.37:g.65892596C>T	ENSP00000385727:p.Ser38Leu					MAST4_uc010iwz.3_Missense_Mutation_p.S38L|MAST4_uc003jur.4_Missense_Mutation_p.S38L	p.S38L	NM_001164664	NP_001158136	O15021	MAST4_HUMAN		Lung(70;0.011)	0	421	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	38					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.113C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014506	0.75161	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000406374;ENST00000406039	T;T;T;T	0.66099	-0.19;-0.19;1.24;1.26	3.44	3.44	0.39384	.	0.705128	0.11681	U	0.539871	T	0.58509	0.2127	N	0.19112	0.55	0.25642	N	0.986194	D;D	0.64830	0.994;0.994	P;P	0.53224	0.721;0.721	T	0.52449	-0.8574	10	0.87932	D	0	.	11.8764	0.52550	0.0:1.0:0.0:0.0	.	38;38	E7EX28;O15021-4	.;.	L	38	ENSP00000385048:S38L;ENSP00000385727:S38L;ENSP00000385088:S38L;ENSP00000384547:S38L	ENSP00000385727:S38L	S	+	2	0	MAST4	65928352	0.536000	0.26378	0.988000	0.46212	0.890000	0.51754	1.111000	0.31159	1.760000	0.52011	0.305000	0.20034	TCG		0.731	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		
TAF9	6880	broad.mit.edu	37	5	68647987	68647987	+	Silent	SNP	G	G	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:68647987G>T	ENST00000380822.4	-	5	471	c.420C>A	c.(418-420)atC>atA	p.I140I	TAF9_ENST00000380818.3_Silent_p.I137I|TAF9_ENST00000502819.1_5'UTR|TAF9_ENST00000512561.1_Silent_p.I109I	NM_016283.4	NP_057367.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	0					cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		GCTGATGCACGATTTCTTCCT	0.373																																						uc003jwa.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8						c.(418-420)atC>atA		Homo sapiens TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa (TAF9), transcript variant 2, mRNA.							102.0	94.0	97.0					5																	68647987		2202	4300	6502	SO:0001819	synonymous_variant	6880					Cajal body	adenylate kinase activity|ATP binding|protein binding	g.chr5:68647987G>T	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000380822.4:c.420C>A	5.37:g.68647987G>T						TAF9_uc003jwb.3_Silent_p.I137I	p.I140I	NM_016283	NP_057367	Q9Y3D8	KAD6_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	4	512	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	140					D3DWA3|Q5U0D1|Q9BTS1	Silent	SNP	ENST00000380822.4	37	c.420C>A	CCDS4001.1																																																																																				0.373	TAF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216793.1	NM_003187	
SLCO6A1	133482	broad.mit.edu	37	5	101794118	101794138	+	In_Frame_Del	DEL	TTCCAAGTTTCAGATCTTTAA	TTCCAAGTTTCAGATCTTTAA	-			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:101794118_101794138delTTCCAAGTTTCAGATCTTTAA	ENST00000506729.1	-	6	1250_1270	c.1079_1099delTTAAAGATCTGAAACTTGGAA	c.(1078-1101)cttaaagatctgaaacttggaact>cct	p.360_367LKDLKLGT>P	SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000389019.3_In_Frame_Del_p.298_305LKDLKLGT>P|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379807.3_In_Frame_Del_p.360_367LKDLKLGT>P			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	360						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTGATATTAGTTCCAAGTTTCAGATCTTTAAGTCTGCTGTC	0.285																																						uc003knn.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1078-1101)cttaaagatctgaaacttggaact>cct		Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.																																				SO:0001651	inframe_deletion	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101794118_101794138delTTCCAAGTTTCAGATCTTTAA	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1079_1099delTTAAAGATCTGAAACTTGGAA	5.37:g.101794118_101794138delTTCCAAGTTTCAGATCTTTAA	ENSP00000421339:p.Leu360_Thr367delinsPro					SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_In_Frame_Del_p.360_367LKDLKLGT>P|SLCO6A1_uc003knq.3_In_Frame_Del_p.298_305LKDLKLGT>P	p.360_367LKDLKLGT>P	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	5	1251_1271	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	360					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	In_Frame_Del	DEL	ENST00000506729.1	37	c.1079_1099delTTAAAGATCTGAAACTTGGAA	CCDS34206.1																																																																																				0.285	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	
SEC24A	10802	broad.mit.edu	37	5	134033601	134033601	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:134033601G>A	ENST00000398844.2	+	15	2408	c.2120G>A	c.(2119-2121)cGg>cAg	p.R707Q		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	707					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)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTATTTCTCGGTATTCAGCA	0.383																																						uc003kzs.3																			0				NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(2119-2121)cGg>cAg		Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.							220.0	202.0	208.0					5																	134033601		1922	4130	6052	SO:0001583	missense	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134033601G>A	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2120G>A	5.37:g.134033601G>A	ENSP00000381823:p.Arg707Gln					SEC24A_uc011cxu.2_Missense_Mutation_p.R471Q	p.R707Q	NM_021982	NP_068817	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		14	2412	+			707					A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.2120G>A	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	G	35	5.522301	0.96431	.	.	ENSG00000113615	ENST00000398844	T	0.25085	1.82	5.6	5.6	0.85130	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	T	0.37571	0.1008	M	0.62723	1.935	0.80722	D	1	P;D	0.56287	0.872;0.975	B;P	0.48141	0.192;0.568	T	0.05007	-1.0912	10	0.33141	T	0.24	-12.9266	19.6088	0.95594	0.0:0.0:1.0:0.0	.	471;707	B4E205;O95486	.;SC24A_HUMAN	Q	707	ENSP00000381823:R707Q	ENSP00000381823:R707Q	R	+	2	0	SEC24A	134061500	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.762000	0.98944	2.636000	0.89361	0.467000	0.42956	CGG		0.383	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1		
SH3RF2	153769	broad.mit.edu	37	5	145435652	145435652	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:145435652G>A	ENST00000511217.1	+	7	1483	c.1431G>A	c.(1429-1431)cgG>cgA	p.R477R	SH3RF2_ENST00000359120.4_Silent_p.R477R|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	477			R -> Q (in dbSNP:rs35165046).		negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGATCCACGGCAAAGCCGTC	0.562																																						uc003lnt.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(1429-1431)cgG>cgA		Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.							136.0	129.0	132.0					5																	145435652		2203	4300	6503	SO:0001819	synonymous_variant	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145435652G>A	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1431G>A	5.37:g.145435652G>A						SH3RF2_uc011dbl.1_Silent_p.R477R|SH3RF2_uc011dbm.1_5'UTR|SH3RF2_uc003lnu.3_5'UTR|SH3RF2_uc011dbn.1_5'UTR	p.R477R	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1669	+			477		R -> Q (in dbSNP:rs35165046).			A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	ENST00000511217.1	37	c.1431G>A	CCDS4280.1																																																																																				0.562	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550	
TRIM41	90933	broad.mit.edu	37	5	180651777	180651777	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:180651777G>A	ENST00000315073.5	+	1	1488	c.778G>A	c.(778-780)Gtg>Atg	p.V260M	MIR4638_ENST00000581158.1_RNA|CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Missense_Mutation_p.V260M	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	260					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGCACAGCGTGGTGCCATT	0.552																																						uc003mne.2																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(778-780)Gtg>Atg		Homo sapiens tripartite motif containing 41 (TRIM41), transcript variant 1, mRNA.							76.0	67.0	70.0					5																	180651777		2203	4300	6503	SO:0001583	missense	90933					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr5:180651777G>A	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.778G>A	5.37:g.180651777G>A	ENSP00000320869:p.Val260Met					TRNA_Lys_uc021ykf.1_5'Flank|TRNA_Val_uc021ykg.1_5'Flank|MIR4638_uc021ykh.1_5'Flank|AX748230_uc003mnb.1_Missense_Mutation_p.R39C|TRIM41_uc003mnc.2_Missense_Mutation_p.V260M|TRIM41_uc003mnd.2_Missense_Mutation_p.V260M|TRIM41_uc003mnf.2_Non-coding_Transcript	p.V260M	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		0	1515	+	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	260					B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	37	c.778G>A	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.546881	0.45383	.	.	ENSG00000146063	ENST00000351937;ENST00000315073;ENST00000421508	T;T	0.51817	0.69;0.69	5.08	5.08	0.68730	Zinc finger, B-box (3);	0.000000	0.48767	D	0.000173	T	0.60676	0.2287	L	0.49455	1.56	0.30492	N	0.7713	D;P;P	0.89917	1.0;0.88;0.88	D;B;B	0.79784	0.993;0.363;0.294	T	0.62067	-0.6932	10	0.52906	T	0.07	.	11.8191	0.52228	0.0:0.177:0.823:0.0	.	260;260;260	Q8WV44;Q8WV44-2;Q8WV44-4	TRI41_HUMAN;.;.	M	260;260;139	ENSP00000336749:V260M;ENSP00000320869:V260M	ENSP00000320869:V260M	V	+	1	0	TRIM41	180584383	0.931000	0.31567	1.000000	0.80357	0.995000	0.86356	2.765000	0.47621	2.345000	0.79718	0.491000	0.48974	GTG		0.552	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627	
MCM3	4172	broad.mit.edu	37	6	52141940	52141940	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr6:52141940G>A	ENST00000229854.7	-	8	1166	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	MCM3_ENST00000596288.1_Nonsense_Mutation_p.R409*|MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Nonsense_Mutation_p.R318*			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	364	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GGGATAGCTCGGGGTGCAGTG	0.597																																						uc003pan.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(1090-1092)Cga>Tga		Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.							60.0	60.0	60.0					6																	52141940		2203	4300	6503	SO:0001587	stop_gained	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52141940G>A	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1090C>T	6.37:g.52141940G>A	ENSP00000229854:p.Arg364*					MCM3_uc011dwu.1_Nonsense_Mutation_p.R318*	p.R364*	NM_002388	NP_002379	P25205	MCM3_HUMAN			7	1200	-	Lung NSC(77;0.0931)		364			MCM.		B4DWW4|Q92660|Q9BTR3|Q9NUE7	Nonsense_Mutation	SNP	ENST00000229854.7	37	c.1090C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.473340	0.97594	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	.	.	.	5.22	3.38	0.38709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-12.4865	14.0232	0.64571	0.0:0.0:0.7159:0.284	.	.	.	.	X	364;318	.	ENSP00000229854:R364X	R	-	1	2	MCM3	52249899	1.000000	0.71417	0.921000	0.36526	0.991000	0.79684	2.978000	0.49305	0.712000	0.32039	0.655000	0.94253	CGA		0.597	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1		
BMP5	653	broad.mit.edu	37	6	55684540	55684540	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr6:55684540C>T	ENST00000370830.3	-	2	1294	c.596G>A	c.(595-597)cGg>cAg	p.R199Q	BMP5_ENST00000446683.2_Missense_Mutation_p.R199Q	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	199					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTGTATATCCGGAATTCAGC	0.368																																						uc003pcq.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45						c.(595-597)cGg>cAg		Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.							110.0	103.0	106.0					6																	55684540		2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55684540C>T		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.596G>A	6.37:g.55684540C>T	ENSP00000359866:p.Arg199Gln					BMP5_uc011dxf.2_Missense_Mutation_p.R199Q	p.R199Q	NM_021073	NP_066551	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		1	1308	-	Lung NSC(77;0.0462)		199					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.596G>A	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	C	34	5.384724	0.95967	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	T;T	0.73469	-0.75;-0.75	5.74	5.74	0.90152	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84615	0.5511	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85289	0.1066	10	0.87932	D	0	.	19.9403	0.97159	0.0:1.0:0.0:0.0	.	199;199	B4E0Y4;P22003	.;BMP5_HUMAN	Q	199	ENSP00000359866:R199Q;ENSP00000391818:R199Q	ENSP00000359866:R199Q	R	-	2	0	BMP5	55792499	1.000000	0.71417	0.932000	0.37286	0.947000	0.59692	7.487000	0.81328	2.712000	0.92718	0.650000	0.86243	CGG		0.368	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1		
NOX3	50508	broad.mit.edu	37	6	155764472	155764472	+	Missense_Mutation	SNP	C	C	T	rs142034685		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr6:155764472C>T	ENST00000159060.2	-	5	523	c.421G>A	c.(421-423)Gca>Aca	p.A141T		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	141	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TTGGAAAGTGCGGCCAGAAGT	0.577													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14574	0.0		0.0	False		,,,				2504	0.0					uc003qqm.3																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(421-423)Gca>Aca		Homo sapiens NADPH oxidase 3 (NOX3), mRNA.		C	THR/ALA	0,4406		0,0,2203	120.0	99.0	106.0		421	2.8	0.5	6	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOX3	NM_015718.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	141/569	155764472	1,13005	2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155764472C>T	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.421G>A	6.37:g.155764472C>T	ENSP00000159060:p.Ala141Thr						p.A141T	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	4	524	-		Breast(66;0.0183)	141			Ferric oxidoreductase.		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.421G>A	CCDS5250.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	6.386	0.439422	0.12104	0.0	1.16E-4	ENSG00000074771	ENST00000159060	D	0.95482	-3.72	5.52	2.75	0.32379	Flavoprotein transmembrane component (1);	0.555369	0.17453	N	0.173710	T	0.81446	0.4824	L	0.29908	0.895	0.09310	N	1	B	0.17268	0.021	B	0.12156	0.007	T	0.70622	-0.4821	10	0.17369	T	0.5	-8.7208	6.2068	0.20608	0.0:0.6442:0.0:0.3558	.	141	Q9HBY0	NOX3_HUMAN	T	141	ENSP00000159060:A141T	ENSP00000159060:A141T	A	-	1	0	NOX3	155806164	0.013000	0.17824	0.466000	0.27168	0.135000	0.20990	2.218000	0.42889	1.324000	0.45282	0.561000	0.74099	GCA		0.577	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1		
DTX2	113878	broad.mit.edu	37	7	76109950	76109950	+	Missense_Mutation	SNP	A	A	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr7:76109950A>G	ENST00000324432.5	+	4	634	c.124A>G	c.(124-126)Atc>Gtc	p.I42V	DTX2_ENST00000446600.1_Intron|DTX2_ENST00000413936.2_Missense_Mutation_p.I42V|AC007078.4_ENST00000479299.2_RNA|DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000430490.2_Missense_Mutation_p.I42V|DTX2_ENST00000307569.8_Missense_Mutation_p.I42V|DTX2_ENST00000446820.2_Missense_Mutation_p.I42V	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	42	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CTGCAGCTTCATCGAGCAGCA	0.662																																						uc011kgk.1																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27								Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.							39.0	38.0	38.0					7																	76109950		2203	4300	6503	SO:0001583	missense	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76109950A>G		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.124A>G	7.37:g.76109950A>G	ENSP00000322885:p.Ile42Val					DTX2_uc003uff.4_Missense_Mutation_p.I42V|DTX2_uc003ufg.4_Missense_Mutation_p.I42V|DTX2_uc003ufh.4_Missense_Mutation_p.I42V|DTX2_uc003ufj.4_Missense_Mutation_p.I42V		NM_020892	NP_065943	Q86UW9	DTX2_HUMAN					+								Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37		CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	16.19	3.052377	0.55218	.	.	ENSG00000091073	ENST00000425780;ENST00000324432;ENST00000307569;ENST00000457529;ENST00000413936;ENST00000423646;ENST00000438930;ENST00000430490;ENST00000423250;ENST00000429179;ENST00000435861;ENST00000446820	T;T;T;T;T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.68	5.68	0.88126	WWE domain (2);WWE domain, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.75221	0.3820	L	0.58101	1.795	0.58432	D	0.999998	D;D	0.71674	0.988;0.998	P;D	0.71414	0.844;0.973	T	0.76356	-0.2989	10	0.52906	T	0.07	-31.253	15.093	0.72211	1.0:0.0:0.0:0.0	.	42;42	Q86UW9-2;Q86UW9	.;DTX2_HUMAN	V	42	ENSP00000407398:I42V;ENSP00000322885:I42V;ENSP00000305242:I42V;ENSP00000390881:I42V;ENSP00000390218:I42V;ENSP00000415838:I42V;ENSP00000387894:I42V;ENSP00000411986:I42V;ENSP00000403342:I42V;ENSP00000399639:I42V;ENSP00000392545:I42V	ENSP00000305242:I42V	I	+	1	0	AC005522.1	75947886	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	8.919000	0.92770	2.166000	0.68216	0.460000	0.39030	ATC		0.662	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2		
CALCR	799	broad.mit.edu	37	7	93067382	93067382	+	Missense_Mutation	SNP	G	G	A	rs527875590		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr7:93067382G>A	ENST00000394441.1	-	10	1235	c.920C>T	c.(919-921)gCg>gTg	p.A307V	CALCR_ENST00000359558.2_Missense_Mutation_p.A341V|CALCR_ENST00000360249.4_Missense_Mutation_p.A323V|CALCR_ENST00000421592.1_Missense_Mutation_p.A323V|CALCR_ENST00000426151.1_Missense_Mutation_p.A307V	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	341					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.A341V(1)|p.A307V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	CACAAGTGCCGCCATGACAGG	0.348													G|||	1	0.000199681	0.0	0.0	5008	,	,		19838	0.0		0.0	False		,,,				2504	0.001					uc003umv.2																			2	Substitution - Missense(2)	p.A341V(1)|p.A307V(1)	lung(2)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45						c.(1021-1023)gCg>gTg		Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	Salmon Calcitonin(DB00017)						73.0	69.0	70.0					7																	93067382		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	g.chr7:93067382G>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.920C>T	7.37:g.93067382G>A	ENSP00000377959:p.Ala307Val					CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.A307V|CALCR_uc003umw.2_Missense_Mutation_p.A307V	p.A341V	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		12	1322	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		323					A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.1022C>T	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.221564	0.39300	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	4.67	0.705	0.18127	.	.	.	.	.	T	0.31358	0.0794	L	0.53729	1.69	0.51482	D	0.999922	P;B	0.40909	0.732;0.075	B;B	0.39876	0.312;0.045	T	0.06373	-1.0830	9	0.49607	T	0.09	.	8.6301	0.33915	0.1237:0.1272:0.7491:0.0	.	341;307	F5H605;A4D1G6	.;.	V	341;323;323;307;307	ENSP00000352561:A341V;ENSP00000353385:A323V;ENSP00000399552:A323V;ENSP00000377959:A307V;ENSP00000389295:A307V	ENSP00000352561:A341V	A	-	2	0	CALCR	92905318	1.000000	0.71417	0.202000	0.23494	0.501000	0.33797	3.324000	0.52022	0.018000	0.15052	0.655000	0.94253	GCG		0.348	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742	
LAMB1	3912	broad.mit.edu	37	7	107600245	107600245	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr7:107600245G>A	ENST00000222399.6	-	19	2579	c.2349C>T	c.(2347-2349)tcC>tcT	p.S783S	LAMB1_ENST00000393560.1_Silent_p.S783S|LAMB1_ENST00000393561.1_Silent_p.S807S	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	783	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	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-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GATCACACACGGAACTTAACG	0.572																																						uc003vev.2																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(2419-2421)tcC>tcT		Homo sapiens laminin, beta 1 (LAMB1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						50.0	43.0	46.0					7																	107600245		2203	4300	6503	SO:0001819	synonymous_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107600245G>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.2349C>T	7.37:g.107600245G>A						LAMB1_uc003vew.2_Silent_p.S783S|LAMB1_uc003vex.3_Silent_p.S783S	p.S807S	NM_002291	NP_002282	P07942	LAMB1_HUMAN			16	2582	-			783			Laminin EGF-like 6.		Q14D91	Silent	SNP	ENST00000222399.6	37	c.2421C>T	CCDS5750.1																																																																																				0.572	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291	
PODXL	5420	broad.mit.edu	37	7	131195806	131195807	+	Frame_Shift_Ins	INS	-	-	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr7:131195806_131195807insG	ENST00000378555.3	-	2	733_734	c.486_487insC	c.(484-489)agcagcfs	p.S163fs	PODXL_ENST00000537928.1_Frame_Shift_Ins_p.S163fs|PODXL_ENST00000465001.1_5'Flank|PODXL_ENST00000541194.1_Frame_Shift_Ins_p.S165fs|PODXL_ENST00000322985.9_Frame_Shift_Ins_p.S163fs			O00592	PODXL_HUMAN	podocalyxin-like	163	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ACACTGTGGCTGCTTTTCCCCC	0.535																																						uc003vqw.4																			0		p.K161E(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(484-489)agcagcfs		Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131195806_131195807insG		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.487dupC	7.37:g.131195807_131195807dupG	ENSP00000367817:p.Ser163fs					PODXL_uc003vqx.4_Frame_Shift_Ins_p.S162fs	p.S162fs	NM_001018111	NP_001018121	O00592	PODXL_HUMAN			1	744_745	-	Melanoma(18;0.162)		162			Thr-rich.		A6NHX8|Q52LZ7|Q53ER6	Frame_Shift_Ins	INS	ENST00000378555.3	37	c.486_487insC	CCDS34755.1																																																																																				0.535	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111	
PRSS58	136541	broad.mit.edu	37	7	141955123	141955123	+	Missense_Mutation	SNP	C	C	T	rs138718517		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr7:141955123C>T	ENST00000552471.1	-	3	507	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	PRSS58_ENST00000547058.2_Missense_Mutation_p.R63Q			Q8IYP2	PRS58_HUMAN	protease, serine, 58	63	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.R63L(1)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CAATATCACCCGAAGCTTTCT	0.428																																						uc003vxb.3																			1	Substitution - Missense(1)	p.R63L(2)|p.L62P(1)	lung(1)	kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(187-189)cGg>cAg		Homo sapiens protease, serine, 58 (PRSS58), mRNA.							119.0	114.0	116.0					7																	141955123		2203	4300	6503	SO:0001583	missense	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141955123C>T		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.188G>A	7.37:g.141955123C>T	ENSP00000446916:p.Arg63Gln					PRSS58_uc003vxc.4_Missense_Mutation_p.R63Q	p.R63Q	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN			2	508	-			63			Peptidase S1.		B3KVJ6|D3DXD2	Missense_Mutation	SNP	ENST00000552471.1	37	c.188G>A	CCDS5871.1	.	.	.	.	.	.	.	.	.	.	C	0.697	-0.792369	0.02884	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.88431	-2.38;-2.38	4.63	-9.27	0.00659	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.57125	0.2032	N	0.01624	-0.795	0.09310	N	1	B	0.18741	0.03	B	0.08055	0.003	T	0.57130	-0.7864	9	0.02654	T	1	.	1.3154	0.02106	0.1808:0.3004:0.2921:0.2267	.	63	Q8IYP2	PRS58_HUMAN	Q	63	ENSP00000447588:R63Q;ENSP00000446916:R63Q	ENSP00000307206:R63Q	R	-	2	0	PRSS58	141601600	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-1.401000	0.02502	-3.101000	0.00244	-0.315000	0.08773	CGG		0.428	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317	
ADAMDEC1	27299	broad.mit.edu	37	8	24251644	24251644	+	Missense_Mutation	SNP	C	C	G	rs201994292	byFrequency	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:24251644C>G	ENST00000256412.4	+	4	567	c.347C>G	c.(346-348)aCg>aGg	p.T116R	ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.T37R|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.T37R	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	116					immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GAAATTACCACGAAACCTGAG	0.463																																					Ovarian(147;687 1849 3699 25981 31337)	uc003xdz.2																			0				NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9						c.(346-348)aCg>aGg		Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.							78.0	74.0	75.0					8																	24251644		2203	4300	6503	SO:0001583	missense	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24251644C>G	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.347C>G	8.37:g.24251644C>G	ENSP00000256412:p.Thr116Arg					ADAMDEC1_uc010lub.2_Missense_Mutation_p.T37R|ADAMDEC1_uc011lab.1_Missense_Mutation_p.T37R	p.T116R	NM_014479	NP_001138744	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	3	567	+		Prostate(55;0.0181)	116					B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	c.347C>G	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	C	2.983	-0.209822	0.06140	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.05786	3.39;3.39;3.39	5.46	1.37	0.22104	Peptidase M12B, propeptide (1);	0.840931	0.10506	N	0.666723	T	0.08758	0.0217	L	0.44542	1.39	0.09310	N	1	P	0.37955	0.612	B	0.42214	0.38	T	0.32241	-0.9914	10	0.52906	T	0.07	-2.4905	9.691	0.40127	0.0:0.5135:0.3995:0.087	.	116	O15204	ADEC1_HUMAN	R	116;37;37	ENSP00000256412:T116R;ENSP00000442592:T37R;ENSP00000428993:T37R	ENSP00000256412:T116R	T	+	2	0	ADAMDEC1	24307589	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.182000	0.09726	0.341000	0.23771	-0.222000	0.12452	ACG		0.463	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479	
FZD3	7976	broad.mit.edu	37	8	28385048	28385048	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:28385048G>A	ENST00000240093.3	+	5	1249	c.771G>A	c.(769-771)ttG>ttA	p.L257L	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Silent_p.L257L	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	257					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TTGGATTTTTGCTTGAAGATC	0.378																																						uc003xgx.3																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41						c.(769-771)ttG>ttA		Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.							89.0	91.0	91.0					8																	28385048		2203	4299	6502	SO:0001819	synonymous_variant	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28385048G>A	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.771G>A	8.37:g.28385048G>A						FZD3_uc010lvb.3_Silent_p.L257L	p.L257L	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	4	1300	+		Ovarian(32;2.06e-05)	257					A8K615	Silent	SNP	ENST00000240093.3	37	c.771G>A	CCDS6069.1																																																																																				0.378	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866	
GPR124	25960	broad.mit.edu	37	8	37693258	37693258	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:37693258G>A	ENST00000412232.2	+	13	2033	c.2020G>A	c.(2020-2022)Gtg>Atg	p.V674M	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	674					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GAGGCGTGGCGTGGCCACCCC	0.652																																						uc003xkj.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(2020-2022)Gtg>Atg		Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.							38.0	41.0	40.0					8																	37693258		2203	4300	6503	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37693258G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2020G>A	8.37:g.37693258G>A	ENSP00000406367:p.Val674Met					GPR124_uc010lvy.3_Intron	p.V674M	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		12	2406	+			674					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.2020G>A	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	34	5.305345	0.95601	.	.	ENSG00000020181	ENST00000416514;ENST00000412232	T	0.62941	-0.01	5.29	5.29	0.74685	.	0.072573	0.56097	D	0.000038	T	0.76579	0.4007	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.79004	-0.1980	10	0.87932	D	0	-16.3131	18.9399	0.92601	0.0:0.0:1.0:0.0	.	674	Q96PE1	GP124_HUMAN	M	667;674	ENSP00000406367:V674M	ENSP00000406367:V674M	V	+	1	0	GPR124	37812416	1.000000	0.71417	0.974000	0.42286	0.858000	0.48976	7.373000	0.79623	2.497000	0.84241	0.655000	0.94253	GTG		0.652	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2		
SBSPON	157869	broad.mit.edu	37	8	73993342	73993342	+	Silent	SNP	G	G	A	rs200404302		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:73993342G>A	ENST00000297354.6	-	2	525	c.321C>T	c.(319-321)aaC>aaT	p.N107N	RP11-956J14.1_ENST00000442274.1_RNA|SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	107	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)										GCGCCCCGCCGTTCTGAGGCT	0.657																																						uc003xzf.3																			0											c.(319-321)aaC>aaT		Homo sapiens chromosome 8 open reading frame 84 (C8orf84), mRNA.							65.0	75.0	72.0					8																	73993342		1999	4157	6156	SO:0001819	synonymous_variant	157869				immune response	extracellular region	polysaccharide binding|scavenger receptor activity	g.chr8:73993342G>A		CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"""RPE spondin"", ""rpe-spondin"""		"""chromosome 8 open reading frame 84"""	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.321C>T	8.37:g.73993342G>A							p.N107N	NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN			1	526	-			107			TSP type-1.		A8KAA5|Q96J64	Silent	SNP	ENST00000297354.6	37	c.321C>T	CCDS43747.2																																																																																				0.657	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347584.2	NM_153225	
VPS13B	157680	broad.mit.edu	37	8	100874087	100874087	+	Silent	SNP	C	C	A	rs560723051		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:100874087C>A	ENST00000358544.2	+	58	11314	c.11203C>A	c.(11203-11205)Cgg>Agg	p.R3735R	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.R3710R	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3735					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCACTACAACCGGCAGGAGGA	0.657																																					Colon(161;2205 2542 7338 31318)	uc003yiv.3																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(11203-11205)Cgg>Agg		Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.							38.0	27.0	31.0					8																	100874087		2198	4298	6496	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100874087C>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11203C>A	8.37:g.100874087C>A						VPS13B_uc003yiw.3_Silent_p.R3710R	p.R3735R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		57	11314	+	Breast(36;3.73e-07)		3735					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.11203C>A	CCDS6280.1																																																																																				0.657	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
PKHD1L1	93035	broad.mit.edu	37	8	110463211	110463211	+	Silent	SNP	A	A	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:110463211A>T	ENST00000378402.5	+	41	6287	c.6183A>T	c.(6181-6183)ggA>ggT	p.G2061G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2061	IPT/TIG 13.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TAGGCACGGGAGCTGAGCAAG	0.458										HNSCC(38;0.096)	OREG0018931	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003yne.3																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(6181-6183)ggA>ggT		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.							89.0	98.0	95.0					8																	110463211		2067	4190	6257	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110463211A>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6183A>T	8.37:g.110463211A>T		HNSCC(38;0.096)	OREG0018931	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1427		p.G2061G	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		40	6287	+			2061			IPT/TIG 13.		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.6183A>T	CCDS47911.1																																																																																				0.458	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
SPATA31D1	389763	broad.mit.edu	37	9	84609453	84609453	+	Silent	SNP	C	C	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr9:84609453C>A	ENST00000344803.2	+	4	4115	c.4068C>A	c.(4066-4068)acC>acA	p.T1356T		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1356					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGATGAAGACCTCTTTGCAGT	0.433																																						uc004amn.3																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						c.(4066-4068)acC>acA		Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.							27.0	24.0	25.0					9																	84609453		1851	4080	5931	SO:0001819	synonymous_variant	389763					integral to membrane		g.chr9:84609453C>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4068C>A	9.37:g.84609453C>A							p.T1356T	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			3	4115	+			1356						Silent	SNP	ENST00000344803.2	37	c.4068C>A	CCDS47986.1																																																																																				0.433	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
ST6GALNAC6	30815	broad.mit.edu	37	9	130653179	130653179	+	Silent	SNP	C	C	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr9:130653179C>A	ENST00000373146.1	-	5	620	c.441G>T	c.(439-441)gtG>gtT	p.V147V	ST6GALNAC6_ENST00000291839.5_Silent_p.V147V|ST6GALNAC6_ENST00000373144.3_Silent_p.V113V|ST6GALNAC6_ENST00000373141.1_Silent_p.V113V|ST6GALNAC6_ENST00000373142.1_Silent_p.V147V|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000485320.1_5'UTR			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	147					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCTTGTTGCCCACATCAGCTG	0.607																																						uc004bsp.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(439-441)gtG>gtT		Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 (ST6GALNAC6), mRNA.							95.0	87.0	90.0					9																	130653179		2203	4300	6503	SO:0001819	synonymous_variant	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130653179C>A	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.441G>T	9.37:g.130653179C>A						ST6GALNAC6_uc004bsn.1_Silent_p.V113V|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bso.1_Silent_p.V147V|ST6GALNAC6_uc004bsq.1_Silent_p.V113V|ST6GALNAC6_uc004bsr.2_Silent_p.V113V|ST6GALNAC6_uc010mxp.1_Non-coding_Transcript	p.V147V			Q969X2	SIA7F_HUMAN			4	560	-			147					B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Silent	SNP	ENST00000373146.1	37	c.441G>T	CCDS6882.1																																																																																				0.607	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443	
ZMYM3	9203	broad.mit.edu	37	X	70466243	70466243	+	Silent	SNP	G	G	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:70466243G>T	ENST00000353904.2	-	15	2719	c.2532C>A	c.(2530-2532)gtC>gtA	p.V844V	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Silent_p.V844V|ZMYM3_ENST00000373998.1_Silent_p.V832V|ZMYM3_ENST00000373988.1_Silent_p.V846V|ZMYM3_ENST00000373984.3_Silent_p.V846V	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	844					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CCTTGCAGGAGACGCCCCGAT	0.597																																						uc004dzh.2																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2530-2532)gtC>gtA		Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.							85.0	65.0	72.0					X																	70466243		2203	4300	6503	SO:0001819	synonymous_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70466243G>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2532C>A	X.37:g.70466243G>T						BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Silent_p.V844V|ZMYM3_uc004dzj.2_Silent_p.V832V	p.V844V	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			14	2711	-	Renal(35;0.156)		844					D3DVV3|O15089|Q96E26	Silent	SNP	ENST00000353904.2	37	c.2532C>A	CCDS14409.1																																																																																				0.597	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599	
ERCC6L	54821	broad.mit.edu	37	X	71428507	71428507	+	Missense_Mutation	SNP	A	A	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:71428507A>T	ENST00000334463.3	-	2	245	c.110T>A	c.(109-111)cTg>cAg	p.L37Q	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_5'UTR	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	37					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TGCTTCTTCCAGGTCTCCATT	0.363																																						uc004eaq.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(109-111)cTg>cAg		Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.							95.0	80.0	85.0					X																	71428507		2203	4300	6503	SO:0001583	missense	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71428507A>T	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.110T>A	X.37:g.71428507A>T	ENSP00000334675:p.Leu37Gln					PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_5'UTR	p.L37Q	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN			1	207	-	Renal(35;0.156)		37					Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	c.110T>A	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.197933	0.38806	.	.	ENSG00000186871	ENST00000334463	D	0.92647	-3.08	5.19	5.19	0.71726	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	D	0.86218	0.5880	L	0.34521	1.04	0.41332	D	0.987249	P	0.45396	0.857	B	0.36922	0.236	D	0.87493	0.2428	9	0.72032	D	0.01	-4.3447	11.9259	0.52819	1.0:0.0:0.0:0.0	.	37	Q2NKX8	ERC6L_HUMAN	Q	37	ENSP00000334675:L37Q	ENSP00000334675:L37Q	L	-	2	0	ERCC6L	71345232	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.774000	0.75012	1.718000	0.51419	0.486000	0.48141	CTG		0.363	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669	
SLC6A14	11254	broad.mit.edu	37	X	115590033	115590033	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:115590033G>A	ENST00000371900.4	+	14	1929	c.1841G>A	c.(1840-1842)cGt>cAt	p.R614H	SLC6A14_ENST00000463626.1_3'UTR	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	614					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GAACAACATCGTGGGGAAAGA	0.403																																						uc004eqi.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1840-1842)cGt>cAt		Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	L-Proline(DB00172)						125.0	116.0	119.0					X																	115590033		2203	4300	6503	SO:0001583	missense	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115590033G>A	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1841G>A	X.37:g.115590033G>A	ENSP00000360967:p.Arg614His						p.R614H	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN			13	1972	+			614					Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	c.1841G>A	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668167	0.88348	.	.	ENSG00000087916	ENST00000371900	T	0.74842	-0.88	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.81683	0.4874	L	0.39245	1.2	0.52099	D	0.999948	D	0.89917	1.0	D	0.91635	0.999	T	0.83097	-0.0130	10	0.72032	D	0.01	.	16.199	0.82057	0.0:0.0:1.0:0.0	.	614	Q9UN76	S6A14_HUMAN	H	614	ENSP00000360967:R614H	ENSP00000360967:R614H	R	+	2	0	SLC6A14	115504061	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	8.785000	0.91822	2.516000	0.84829	0.538000	0.68166	CGT		0.403	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1		
ZNF280C	55609	broad.mit.edu	37	X	129339341	129339341	+	Silent	SNP	G	G	A	rs375528832		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:129339341G>A	ENST00000370978.4	-	17	2244	c.2091C>T	c.(2089-2091)tcC>tcT	p.S697S		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	697					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GATCTAAGCCGGAAGAATCAG	0.323																																						uc004evm.3																			0		p.S696Y(1)		endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(2089-2091)tcC>tcT		Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.		A		0,3835		0,0,0,1632,571	98.0	84.0	89.0		2091	-3.7	0.1	X		89	2,6725		0,1,1,2427,1870	no	coding-synonymous	ZNF280C	NM_017666.4		0,1,1,4059,2441	AA,AG,A,GG,G		0.0297,0.0,0.0189		697/738	129339341	2,10560	2203	4299	6502	SO:0001819	synonymous_variant	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129339341G>A	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.2091C>T	X.37:g.129339341G>A							p.S697S	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN			16	2294	-			697					A8K2V8|Q9NXR3	Silent	SNP	ENST00000370978.4	37	c.2091C>T	CCDS14622.1																																																																																				0.323	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666	
F9	2158	broad.mit.edu	37	X	138643870	138643870	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:138643870G>A	ENST00000218099.2	+	8	1033	c.1026G>A	c.(1024-1026)acG>acA	p.T342T	F9_ENST00000394090.2_Silent_p.T304T	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	342	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		T -> K (in HEMB; mild).|T -> M (in HEMB; moderate). {ECO:0000269|PubMed:12604421, ECO:0000269|PubMed:2773937, ECO:0000269|PubMed:9222764}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	AGGAATACACGAACATCTTCC	0.433																																						uc004fas.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35						c.(1024-1026)acG>acA		Homo sapiens coagulation factor IX (F9), mRNA.	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						200.0	165.0	177.0					X																	138643870		2203	4300	6503	SO:0001819	synonymous_variant	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138643870G>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.1026G>A	X.37:g.138643870G>A						F9_uc004fat.1_Silent_p.T304T	p.T342T	NM_000133	NP_000124	P00740	FA9_HUMAN			7	1055	+	Acute lymphoblastic leukemia(192;0.000127)		342		T -> K (in HEMB; mild).|T -> M (in HEMB; moderate).	Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Silent	SNP	ENST00000218099.2	37	c.1026G>A	CCDS14666.1																																																																																				0.433	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1		
F8	2157	broad.mit.edu	37	X	154194774	154194774	+	Frame_Shift_Del	DEL	T	T	-	rs387906441		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:154194774delT	ENST00000360256.4	-	8	1398	c.1198delA	c.(1198-1200)actfs	p.T400fs	F8_ENST00000483822.1_5'UTR	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	400	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGTACCCAAGTTTTAGGATGC	0.448																																						uc004fmt.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(1198-1200)actfs		Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						150.0	116.0	128.0					X																	154194774		2203	4300	6503	SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154194774delT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1198delA	X.37:g.154194774delT	ENSP00000353393:p.Thr400fs						p.T400fs	NM_000132	NP_000123	P00451	FA8_HUMAN			7	1369	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		400			F5/8 type A 2.|Plastocyanin-like 3.		Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	c.1198delA	CCDS35457.1																																																																																				0.448	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
