#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
EPHA8	2046	broad.mit.edu	37	1	22903296	22903296	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr1:22903296C>T	ENST00000166244.3	+	3	818	c.746C>T	c.(745-747)gCg>gTg	p.A249V	EPHA8_ENST00000374644.4_Missense_Mutation_p.A249V|EPHA8_ENST00000538803.1_Missense_Mutation_p.A249V	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	249	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TACTGCAGCGCGGAGGGCGAG	0.687																																						uc001bfx.1																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(745-747)gCg>gTg		Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.							43.0	43.0	43.0					1																	22903296		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22903296C>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.746C>T	1.37:g.22903296C>T	ENSP00000166244:p.Ala249Val					EPHA8_uc001bfw.3_Missense_Mutation_p.A249V	p.A249V	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	871	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	249			Cys-rich.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.746C>T	CCDS225.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819262	0.71028	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.74315	-0.83;5.01;5.01	4.09	4.09	0.47781	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.84142	0.5407	M	0.72576	2.205	0.51767	D	0.999934	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.963	D	0.84478	0.0603	10	0.41790	T	0.15	.	15.0354	0.71741	0.0:1.0:0.0:0.0	.	249;249	P29322;P29322-2	EPHA8_HUMAN;.	V	249	ENSP00000166244:A249V;ENSP00000363775:A249V;ENSP00000440274:A249V	ENSP00000166244:A249V	A	+	2	0	EPHA8	22775883	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.854000	0.69503	2.103000	0.63969	0.442000	0.29010	GCG		0.687	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526	
TSSK3	81629	broad.mit.edu	37	1	32828323	32828323	+	Silent	SNP	C	C	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr1:32828323C>A	ENST00000373534.3	+	1	526	c.21C>A	c.(19-21)tcC>tcA	p.S7S	FAM229A_ENST00000432622.1_5'Flank|FAM229A_ENST00000415596.1_Intron	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	7					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				TTCTGCTCTCCAATGGGTACC	0.502																																						uc001bvf.3																			0				NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15						c.(19-21)tcC>tcA		Homo sapiens testis-specific serine kinase 3 (TSSK3), mRNA.							97.0	104.0	101.0					1																	32828323		2203	4300	6503	SO:0001819	synonymous_variant	81629				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:32828323C>A	AF296450	CCDS362.1	1p35-p34	2008-02-05	2005-03-10	2005-03-12	ENSG00000162526	ENSG00000162526			15473	protein-coding gene	gene with protein product		607660	"""serine/threonine kinase 22C (spermiogenesis associated)"""	STK22C		11597141	Standard	NM_052841		Approved	SPOGA3	uc001bvf.3	Q96PN8	OTTHUMG00000007585	ENST00000373534.3:c.21C>A	1.37:g.32828323C>A						LOC100128071_uc021oku.1_5'Flank	p.S7S	NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN			0	462	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)	7					Q5TEE5	Silent	SNP	ENST00000373534.3	37	c.21C>A	CCDS362.1																																																																																				0.502	TSSK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020049.1		
GRIK3	2899	broad.mit.edu	37	1	37356541	37356541	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr1:37356541C>G	ENST00000373091.3	-	2	288	c.272G>C	c.(271-273)aGc>aCc	p.S91T	GRIK3_ENST00000373093.4_Missense_Mutation_p.S91T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	91					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CGCCTCGAAGCTGTCATGGAA	0.527																																						uc001caz.2																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(271-273)aGc>aCc		Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	L-Glutamic Acid(DB00142)						252.0	189.0	210.0					1																	37356541		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37356541C>G	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.272G>C	1.37:g.37356541C>G	ENSP00000362183:p.Ser91Thr					GRIK3_uc001cba.1_Missense_Mutation_p.S91T	p.S91T	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			1	407	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	91					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.272G>C	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	34	5.351833	0.95830	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.22539	1.95;1.95	5.83	5.83	0.93111	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.43743	0.1261	M	0.83953	2.67	0.80722	D	1	B;B	0.22080	0.064;0.064	B;B	0.39738	0.308;0.308	T	0.41822	-0.9487	10	0.72032	D	0.01	.	20.1224	0.97967	0.0:1.0:0.0:0.0	.	91;91	A9Z1Z8;Q13003	.;GRIK3_HUMAN	T	91	ENSP00000362183:S91T;ENSP00000362185:S91T	ENSP00000362183:S91T	S	-	2	0	GRIK3	37129128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.811000	0.86092	2.749000	0.94314	0.650000	0.86243	AGC		0.527	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831	
ITIH2	3698	broad.mit.edu	37	10	7763617	7763617	+	Silent	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr10:7763617C>T	ENST00000358415.4	+	8	910	c.744C>T	c.(742-744)caC>caT	p.H248H	ITIH2_ENST00000379587.4_Silent_p.H237H	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	248					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCTAGGCGCACGTCTCCTTCA	0.587																																						uc001ijs.3																			0		p.H248L(1)|p.A247A(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(742-744)caC>caT		Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.							134.0	121.0	125.0					10																	7763617		2203	4300	6503	SO:0001819	synonymous_variant	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7763617C>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.744C>T	10.37:g.7763617C>T							p.H248H	NM_002216	NP_002207	P19823	ITIH2_HUMAN			7	906	+			248					Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	c.744C>T	CCDS31141.1																																																																																				0.587	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	
EXOC6	54536	broad.mit.edu	37	10	94653171	94653171	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr10:94653171G>A	ENST00000260762.6	+	2	181	c.167G>A	c.(166-168)cGt>cAt	p.R56H	EXOC6_ENST00000371552.4_Missense_Mutation_p.R51H|EXOC6_ENST00000371547.4_Missense_Mutation_p.R72H|EXOC6_ENST00000371543.1_Missense_Mutation_p.R56H|EXOC6_ENST00000443748.2_Missense_Mutation_p.R56H	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	56					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GCTTGTATCCGTAATCATGAC	0.333																																						uc010qnr.2																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(214-216)cGt>cAt		Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.							103.0	105.0	104.0					10																	94653171		2203	4297	6500	SO:0001583	missense	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94653171G>A	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.167G>A	10.37:g.94653171G>A	ENSP00000260762:p.Arg56His					EXOC6_uc001kie.3_Missense_Mutation_p.R51H|EXOC6_uc001kif.4_Missense_Mutation_p.R56H|EXOC6_uc001kig.3_Missense_Mutation_p.R56H|EXOC6_uc009xub.3_Missense_Mutation_p.R56H|EXOC6_uc009xuc.3_Missense_Mutation_p.R56H	p.R72H	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN			2	358	+		Colorectal(252;0.123)	56					E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	ENST00000260762.6	37	c.215G>A	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953411	0.73902	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000371543;ENST00000443748;ENST00000260762	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.51244	0.1663	L	0.52011	1.625	0.31188	N	0.701319	D;D;B;P;P	0.89917	0.998;1.0;0.347;0.603;0.603	P;D;B;B;B	0.64410	0.815;0.925;0.097;0.111;0.066	T	0.46884	-0.9159	10	0.46703	T	0.11	-11.6453	20.6397	0.99537	0.0:0.0:1.0:0.0	.	72;56;48;56;51	F2Z2Q3;E7EW84;B4DEZ1;Q8TAG9;E9PHI3	.;.;.;EXOC6_HUMAN;.	H	72;51;56;56;56	ENSP00000360602:R72H;ENSP00000360607:R51H;ENSP00000360598:R56H;ENSP00000396206:R56H;ENSP00000260762:R56H	ENSP00000260762:R56H	R	+	2	0	EXOC6	94643151	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.948000	0.87774	2.880000	0.98712	0.650000	0.86243	CGT		0.333	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053	
SORBS1	10580	broad.mit.edu	37	10	97194458	97194458	+	Missense_Mutation	SNP	T	T	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr10:97194458T>A	ENST00000361941.3	-	3	119	c.93A>T	c.(91-93)ttA>ttT	p.L31F	SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371245.3_Missense_Mutation_p.L31F|SORBS1_ENST00000371246.2_Missense_Mutation_p.L31F|SORBS1_ENST00000353505.5_Missense_Mutation_p.L31F|SORBS1_ENST00000306402.6_Missense_Mutation_p.L31F|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.L31F|SORBS1_ENST00000393949.1_Missense_Mutation_p.L31F|SORBS1_ENST00000354106.3_Missense_Mutation_p.L31F|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.L31F|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000347291.4_Missense_Mutation_p.L31F|SORBS1_ENST00000277982.5_Missense_Mutation_p.L31F	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGCGTGCGCGTAAAGGGTCGG	0.483																																						uc001kkp.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(91-93)ttA>ttT		Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.							87.0	86.0	86.0					10																	97194458		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97194458T>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.93A>T	10.37:g.97194458T>A	ENSP00000355136:p.Leu31Phe					SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Missense_Mutation_p.L19F|SORBS1_uc001kko.3_Missense_Mutation_p.L31F|SORBS1_uc001kkq.3_Missense_Mutation_p.L31F|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Missense_Mutation_p.L31F|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.L31F|SORBS1_uc010qoe.2_Intron|SORBS1_uc010qof.1_Intron|SORBS1_uc001kkx.1_Intron	p.L31F	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	2	138	-		Colorectal(252;0.0429)	31						Missense_Mutation	SNP	ENST00000361941.3	37	c.93A>T	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.116652	0.37339	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000354106	T;T;T;T;T;T;T;T;T;T;T	0.21543	2.55;2.1;2.43;2.2;2.72;2.2;2.55;2.0;2.43;2.72;2.2	5.82	-5.2	0.02823	.	0.624550	0.12019	N	0.507188	T	0.20495	0.0493	N	0.24115	0.695	0.09310	N	0.999999	P;B;B;P;P;B	0.44946	0.846;0.005;0.0;0.761;0.846;0.001	P;B;B;P;P;B	0.54460	0.753;0.004;0.002;0.571;0.683;0.003	T	0.26573	-1.0099	10	0.87932	D	0	0.8998	9.828	0.40923	0.0:0.122:0.5422:0.3359	.	31;31;31;31;31;31	Q9BX66-11;Q9BX66-9;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6	.;.;.;SRBS1_HUMAN;.;.	F	31	ENSP00000360291:L31F;ENSP00000302556:L31F;ENSP00000360293:L31F;ENSP00000360271:L31F;ENSP00000360292:L31F;ENSP00000377521:L31F;ENSP00000343998:L31F;ENSP00000277985:L31F;ENSP00000355136:L31F;ENSP00000277982:L31F;ENSP00000277984:L31F	ENSP00000277982:L31F	L	-	3	2	SORBS1	97184448	0.999000	0.42202	0.763000	0.31416	0.579000	0.36224	0.336000	0.19823	-1.266000	0.02446	-0.250000	0.11733	TTA		0.483	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1		
NLRP14	338323	broad.mit.edu	37	11	7065151	7065151	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr11:7065151A>G	ENST00000299481.4	+	4	2240	c.1894A>G	c.(1894-1896)Agg>Ggg	p.R632G		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	632					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCGGACCATCAGGCTGTCTGT	0.423																																						uc001mfb.1																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1894-1896)Agg>Ggg		Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.							91.0	95.0	94.0					11																	7065151		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7065151A>G	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1894A>G	11.37:g.7065151A>G	ENSP00000299481:p.Arg632Gly						p.R632G	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	3	2217	+			632					Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.1894A>G	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.514513	0.27123	.	.	ENSG00000158077	ENST00000299481	D	0.89552	-2.53	4.2	3.08	0.35506	.	0.353219	0.24647	N	0.036756	D	0.84365	0.5456	M	0.71871	2.18	0.09310	N	1	B	0.30482	0.281	B	0.21917	0.037	T	0.74551	-0.3628	10	0.39692	T	0.17	.	6.3564	0.21404	0.8898:0.0:0.1102:0.0	.	632	Q86W24	NAL14_HUMAN	G	632	ENSP00000299481:R632G	ENSP00000299481:R632G	R	+	1	2	NLRP14	7021727	0.002000	0.14202	0.006000	0.13384	0.060000	0.15804	0.926000	0.28804	0.960000	0.38005	0.533000	0.62120	AGG		0.423	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822	
OR5AN1	390195	broad.mit.edu	37	11	59132528	59132528	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr11:59132528G>A	ENST00000313940.2	+	1	644	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TACAGGTCATGACTGCTATAT	0.408																																						uc010rks.2																			0		p.V198V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						c.(595-597)atG>atA		Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.							188.0	166.0	173.0					11																	59132528		2201	4295	6496	SO:0001583	missense	390195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59132528G>A	AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.597G>A	11.37:g.59132528G>A	ENSP00000320302:p.Met199Ile						p.M199I	NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN			0	597	+			199					B9EIS2|Q6IEV4	Missense_Mutation	SNP	ENST00000313940.2	37	c.597G>A	CCDS31559.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.382969	0.01194	.	.	ENSG00000176495	ENST00000313940	T	0.36157	1.27	4.12	-1.8	0.07907	GPCR, rhodopsin-like superfamily (1);	1.022310	0.07857	N	0.965562	T	0.15262	0.0368	N	0.05199	-0.095	0.09310	N	1	B	0.16802	0.019	B	0.21151	0.033	T	0.23762	-1.0179	10	0.39692	T	0.17	-1.7434	2.3338	0.04242	0.1618:0.1248:0.4586:0.2547	.	199	Q8NGI8	O5AN1_HUMAN	I	199	ENSP00000320302:M199I	ENSP00000320302:M199I	M	+	3	0	OR5AN1	58889104	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.181000	0.09740	-0.115000	0.11915	-0.181000	0.13052	ATG		0.408	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729	
ATM	472	broad.mit.edu	37	11	108172455	108172455	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr11:108172455A>G	ENST00000452508.2	+	36	5447	c.5258A>G	c.(5257-5259)tAt>tGt	p.Y1753C	ATM_ENST00000278616.4_Missense_Mutation_p.Y1753C			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1753					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGGGAGATTTATAAGATGACA	0.343			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(5257-5259)tAt>tGt	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.							127.0	131.0	129.0					11																	108172455		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108172455A>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5258A>G	11.37:g.108172455A>G	ENSP00000388058:p.Tyr1753Cys	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.Y1753C|ATM_uc001pke.2_Missense_Mutation_p.Y405C|ATM_uc001pkg.1_Missense_Mutation_p.Y110C|ATM_uc009yxt.1_5'Flank	p.Y1753C	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	34	5643	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1753					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.5258A>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.317176	0.40996	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.68025	-0.3;-0.3	4.9	4.9	0.64082	Armadillo-type fold (1);	0.226361	0.46442	D	0.000285	T	0.55657	0.1934	L	0.41236	1.265	0.36072	D	0.842197	B	0.14438	0.01	B	0.17979	0.02	T	0.60393	-0.7272	10	0.42905	T	0.14	.	9.3855	0.38340	0.9193:0.0:0.0807:0.0	.	1753	Q13315	ATM_HUMAN	C	1753	ENSP00000278616:Y1753C;ENSP00000388058:Y1753C	ENSP00000278616:Y1753C	Y	+	2	0	ATM	107677665	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.238000	0.65366	1.975000	0.57531	0.377000	0.23210	TAT		0.343	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
BUD13	84811	broad.mit.edu	37	11	116633616	116633616	+	Missense_Mutation	SNP	C	C	T	rs139478949		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr11:116633616C>T	ENST00000260210.4	-	4	712	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	BUD13_ENST00000375445.3_Intron	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	230	Arg-rich.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)	p.R230Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		ATGACGGGCTCGCCTAGGAGG	0.532																																						uc001ppn.3																			1	Substitution - Missense(1)	p.R230Q(2)	large_intestine(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22						c.(688-690)cGa>cAa		Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.		C	,GLN/ARG	0,4402		0,0,2201	123.0	126.0	125.0		,689	2.2	0.0	11	dbSNP_134	125	1,8591	1.2+/-3.3	0,1,4295	no	intron,missense	BUD13	NM_001159736.1,NM_032725.3	,43	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	,possibly-damaging	,230/620	116633616	1,12993	2201	4296	6497	SO:0001583	missense	84811							g.chr11:116633616C>T	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.689G>A	11.37:g.116633616C>T	ENSP00000260210:p.Arg230Gln					BUD13_uc001ppo.3_Intron|BUD13_uc009yzc.3_Missense_Mutation_p.R230Q	p.R230Q	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	3	723	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	230			Arg-rich.		A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.689G>A	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704552	0.30232	0.0	1.16E-4	ENSG00000137656	ENST00000260210	T	0.27557	1.66	5.08	2.18	0.27775	.	0.271172	0.41194	D	0.000924	T	0.26738	0.0654	M	0.74258	2.255	0.31247	N	0.694493	P;P	0.50369	0.934;0.934	B;B	0.34038	0.174;0.174	T	0.43442	-0.9391	9	.	.	.	-9.9463	10.4446	0.44486	0.0:0.7867:0.0:0.2133	.	230;230	A8K4Z6;Q9BRD0	.;BUD13_HUMAN	Q	230	ENSP00000260210:R230Q	.	R	-	2	0	BUD13	116138826	0.000000	0.05858	0.005000	0.12908	0.035000	0.12851	0.776000	0.26704	0.739000	0.32628	0.655000	0.94253	CGA		0.532	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725	
TIMELESS	8914	broad.mit.edu	37	12	56822356	56822356	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr12:56822356C>T	ENST00000553532.1	-	12	1535	c.1385G>A	c.(1384-1386)aGg>aAg	p.R462K	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000229201.4_Missense_Mutation_p.R461K					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCTGCTCTCCCTCACAGCCTC	0.557																																						uc001slf.2																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(1384-1386)aGg>aAg		Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.							69.0	57.0	61.0					12																	56822356		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56822356C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1385G>A	12.37:g.56822356C>T	ENSP00000450607:p.Arg462Lys					TIMELESS_uc001slg.2_Missense_Mutation_p.R461K	p.R462K	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			11	1553	-			462						Missense_Mutation	SNP	ENST00000553532.1	37	c.1385G>A	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.815041	0.70912	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.07567	3.18;3.18	5.13	4.24	0.50183	.	0.055015	0.64402	N	0.000002	T	0.07052	0.0179	L	0.31752	0.955	0.80722	D	1	P;P	0.42375	0.778;0.671	B;B	0.38712	0.28;0.145	T	0.43718	-0.9374	10	0.27082	T	0.32	-12.7506	12.8404	0.57800	0.0:0.9191:0.0:0.0809	.	461;462	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	K	461;462	ENSP00000229201:R461K;ENSP00000450607:R462K	ENSP00000229201:R462K	R	-	2	0	TIMELESS	55108623	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.761000	0.62243	1.315000	0.45114	0.462000	0.41574	AGG		0.557	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920	
KCNC2	3747	broad.mit.edu	37	12	75601221	75601221	+	Silent	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr12:75601221G>A	ENST00000549446.1	-	2	1223	c.543C>T	c.(541-543)gaC>gaT	p.D181D	KCNC2_ENST00000393288.2_Silent_p.D181D|KCNC2_ENST00000298972.1_Silent_p.D181D|KCNC2_ENST00000548513.1_Silent_p.D181D|KCNC2_ENST00000540018.1_Silent_p.D181D|KCNC2_ENST00000350228.2_Silent_p.D181D|KCNC2_ENST00000550433.1_Silent_p.D181D|KCNC2_ENST00000341669.3_Silent_p.D181D	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	181					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	GGTCCTCGTCGTCGCCGGGGT	0.726																																						uc001sxg.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(541-543)gaC>gaT		Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.							14.0	16.0	15.0					12																	75601221		2198	4295	6493	SO:0001819	synonymous_variant	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75601221G>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.543C>T	12.37:g.75601221G>A						KCNC2_uc009zry.3_Silent_p.D181D|KCNC2_uc001sxe.3_Silent_p.D181D|KCNC2_uc001sxf.3_Silent_p.D181D|KCNC2_uc010stw.1_Silent_p.D181D	p.D181D	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			1	1087	-			181					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	37	c.543C>T	CCDS9007.1																																																																																				0.726	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748	
NTN4	59277	broad.mit.edu	37	12	96076575	96076575	+	Missense_Mutation	SNP	T	T	G			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr12:96076575T>G	ENST00000343702.4	-	7	1866	c.1418A>C	c.(1417-1419)cAt>cCt	p.H473P	NTN4_ENST00000538383.1_Missense_Mutation_p.H436P|NTN4_ENST00000553059.1_Missense_Mutation_p.H473P|NTN4_ENST00000344911.4_Missense_Mutation_p.H436P	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	473					axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AGGAACTTCATGATACCAGTC	0.423																																						uc001tei.3																			0				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1417-1419)cAt>cCt		Homo sapiens netrin 4 (NTN4), mRNA.							133.0	114.0	121.0					12																	96076575		2203	4300	6503	SO:0001583	missense	59277				axon guidance	basement membrane|plasma membrane		g.chr12:96076575T>G	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1418A>C	12.37:g.96076575T>G	ENSP00000340998:p.His473Pro					NTN4_uc009ztf.3_Missense_Mutation_p.H473P|NTN4_uc009ztg.3_Missense_Mutation_p.H436P	p.H473P	NM_021229	NP_067052	Q9HB63	NET4_HUMAN			6	1867	-			473					B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	c.1418A>C	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	T	11.96	1.795169	0.31777	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059	T;T;T;T	0.37058	1.24;1.22;1.22;1.29	4.86	4.86	0.63082	.	0.254426	0.31268	N	0.007942	T	0.30324	0.0761	L	0.41236	1.265	0.31767	N	0.63254	P;P	0.44090	0.826;0.607	B;B	0.43103	0.408;0.177	T	0.34527	-0.9825	10	0.31617	T	0.26	.	9.1809	0.37141	0.0:0.081:0.0:0.919	.	473;473	Q9HB63-2;Q9HB63	.;NET4_HUMAN	P	473;436;436;473	ENSP00000340998:H473P;ENSP00000339436:H436P;ENSP00000444432:H436P;ENSP00000447292:H473P	ENSP00000340998:H473P	H	-	2	0	NTN4	94600706	1.000000	0.71417	0.995000	0.50966	0.533000	0.34776	3.686000	0.54685	2.047000	0.60756	0.379000	0.24179	CAT		0.423	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229	
FOXA1	3169	broad.mit.edu	37	14	38061515	38061515	+	Silent	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr14:38061515G>A	ENST00000250448.2	-	2	535	c.474C>T	c.(472-474)gaC>gaT	p.D158D	FOXA1_ENST00000540786.1_Silent_p.D125D|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	158					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ACGTCTTGGCGTcgccgccgc	0.697																																						uc001wuf.3																			0		p.D158N(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(472-474)gaC>gaT		Homo sapiens forkhead box A1 (FOXA1), mRNA.							48.0	46.0	46.0					14																	38061515		2203	4300	6503	SO:0001819	synonymous_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061515G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.474C>T	14.37:g.38061515G>A						FOXA1_uc010tpz.2_Silent_p.D125D	p.D158D	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	1	786	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		158					B2R9H6|B7ZAP5|Q9H2A0	Silent	SNP	ENST00000250448.2	37	c.474C>T	CCDS9665.1																																																																																				0.697	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1		
TMEM229B	161145	broad.mit.edu	37	14	67940157	67940157	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr14:67940157C>T	ENST00000557006.1	-	4	766	c.484G>A	c.(484-486)Ggc>Agc	p.G162S	TMEM229B_ENST00000357461.2_Missense_Mutation_p.G162S			Q8NBD8	T229B_HUMAN	transmembrane protein 229B	162						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTGACATGGCCGTTGGCCAGG	0.632																																						uc001xjk.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(484-486)Ggc>Agc		Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.							44.0	50.0	48.0					14																	67940157		2203	4300	6503	SO:0001583	missense	161145					integral to membrane		g.chr14:67940157C>T	AK090706	CCDS9783.1	14q23.3-q24.1	2009-09-22	2009-09-22	2009-09-22	ENSG00000198133	ENSG00000198133			20130	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 83"""	C14orf83			Standard	NM_182526		Approved	FLJ33387	uc001xjk.3	Q8NBD8		ENST00000557006.1:c.484G>A	14.37:g.67940157C>T	ENSP00000451774:p.Gly162Ser					TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Missense_Mutation_p.G162S	p.G162S	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN			2	894	-			162						Missense_Mutation	SNP	ENST00000557006.1	37	c.484G>A	CCDS9783.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575860	0.86645	.	.	ENSG00000198133	ENST00000557006;ENST00000357461	.	.	.	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.37812	0.1017	L	0.27053	0.805	0.58432	D	0.999999	P	0.41393	0.748	B	0.30401	0.115	T	0.48547	-0.9026	9	0.66056	D	0.02	-22.0479	16.9889	0.86348	0.0:1.0:0.0:0.0	.	162	Q8NBD8	T229B_HUMAN	S	162	.	ENSP00000350050:G162S	G	-	1	0	TMEM229B	67009910	1.000000	0.71417	0.986000	0.45419	0.362000	0.29581	6.233000	0.72320	2.001000	0.58596	0.555000	0.69702	GGC		0.632	TMEM229B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412718.2	NM_182526	
RPS6KL1	83694	broad.mit.edu	37	14	75388196	75388196	+	Nonsense_Mutation	SNP	C	C	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr14:75388196C>A	ENST00000555647.1	-	3	336	c.49G>T	c.(49-51)Gag>Tag	p.E17*	RPS6KL1_ENST00000354625.2_Nonsense_Mutation_p.E17*|RPS6KL1_ENST00000358328.4_Nonsense_Mutation_p.E17*|RPS6KL1_ENST00000557413.1_Nonsense_Mutation_p.E17*|RPS6KL1_ENST00000554900.1_Intron			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	17						ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GAGCAAGGCTCAGGCTCCAGG	0.607																																						uc010tux.2																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(49-51)Gag>Tag		Homo sapiens ribosomal protein S6 kinase-like 1 (RPS6KL1), mRNA.							61.0	60.0	60.0					14																	75388196		2203	4300	6503	SO:0001587	stop_gained	83694					ribosome	ATP binding|protein serine/threonine kinase activity	g.chr14:75388196C>A	BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.49G>T	14.37:g.75388196C>A	ENSP00000452027:p.Glu17*					RPS6KL1_uc010asd.2_Non-coding_Transcript|RPS6KL1_uc021rwp.1_Nonsense_Mutation_p.E17*|RPS6KL1_uc001xqy.1_Nonsense_Mutation_p.E17*	p.E17*	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00658)	1	577	-			17					A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Nonsense_Mutation	SNP	ENST00000555647.1	37	c.49G>T	CCDS9834.2	.	.	.	.	.	.	.	.	.	.	C	38	7.255153	0.98168	.	.	ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000557413;ENST00000358328	.	.	.	3.76	3.76	0.43208	.	0.000000	0.46442	D	0.000300	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.3085	12.9692	0.58503	0.0:1.0:0.0:0.0	.	.	.	.	X	17	.	ENSP00000346644:E17X	E	-	1	0	RPS6KL1	74457949	0.986000	0.35501	0.968000	0.41197	0.426000	0.31534	2.772000	0.47678	2.106000	0.64143	0.561000	0.74099	GAG		0.607	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413732.1		
ACAN	176	broad.mit.edu	37	15	89386832	89386832	+	Missense_Mutation	SNP	C	C	T	rs370865297		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr15:89386832C>T	ENST00000561243.1	+	5	1004	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	ACAN_ENST00000558207.1_Missense_Mutation_p.T335M|ACAN_ENST00000352105.7_Missense_Mutation_p.T335M|ACAN_ENST00000439576.2_Missense_Mutation_p.T335M|ACAN_ENST00000559004.1_Missense_Mutation_p.T335M			P16112	PGCA_HUMAN	aggrecan	335	G1-B'.|Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCCAACCAGACGGGCTACCCC	0.657																																						uc010upo.1																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1003-1005)aCg>aTg		Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.		C	MET/THR,MET/THR	1,4117		0,1,2058	48.0	53.0	51.0		1004,1004	4.6	0.9	15		51	1,8365		0,1,4182	no	missense,missense	ACAN	NM_001135.3,NM_013227.3	81,81	0,2,6240	TT,TC,CC		0.012,0.0243,0.016	probably-damaging,probably-damaging	335/2432,335/2531	89386832	2,12482	2059	4183	6242	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89386832C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1004C>T	15.37:g.89386832C>T	ENSP00000453342:p.Thr335Met					ACAN_uc002bmx.3_Missense_Mutation_p.T335M|ACAN_uc010upp.1_Missense_Mutation_p.T335M|ACAN_uc002bna.2_Non-coding_Transcript	p.T335M	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		5	1378	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		335					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.1004C>T	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697576	0.68386	2.43E-4	1.2E-4	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.03035	4.31;4.07	5.56	4.63	0.57726	.	0.000000	0.33553	N	0.004786	T	0.24392	0.0591	M	0.92026	3.265	0.49051	D	0.999741	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.991;0.991;0.994	T	0.18587	-1.0332	10	0.87932	D	0	-11.9767	15.4131	0.74943	0.0:0.8605:0.1395:0.0	.	335;335;335	E7ENV9;E7EX88;Q6PID9	.;.;.	M	335	ENSP00000387356:T335M;ENSP00000341615:T335M	ENSP00000268134:T335M	T	+	2	0	ACAN	87187836	1.000000	0.71417	0.881000	0.34555	0.994000	0.84299	7.469000	0.80959	1.324000	0.45282	0.650000	0.86243	ACG		0.657	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	
LRRK1	79705	broad.mit.edu	37	15	101567475	101567475	+	Silent	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr15:101567475C>T	ENST00000388948.3	+	18	2774	c.2415C>T	c.(2413-2415)tcC>tcT	p.S805S	LRRK1_ENST00000284395.5_Silent_p.S802S	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGAGATTTCCTGCAAGAGCC	0.562																																						uc002bwr.3																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(2413-2415)tcC>tcT		Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.							48.0	53.0	51.0					15																	101567475		2009	4187	6196	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101567475C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2415C>T	15.37:g.101567475C>T						LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	p.S805S	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		17	2734	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		805			Roc.			Silent	SNP	ENST00000388948.3	37	c.2415C>T	CCDS42086.1																																																																																				0.562	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																						uc010vbl.1																			0											c.(106-108)Ctg>Ttg		Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																																						730092							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A						LOC23117_uc021tel.1_Intron	p.L36L							6	603	-								A8K6T4|B3KWX9|O75704	Silent	SNP	ENST00000546471.1	37	c.106C>T																																																																																					0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370	
WFIKKN2	124857	broad.mit.edu	37	17	48917794	48917794	+	Missense_Mutation	SNP	C	C	T	rs372115241		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr17:48917794C>T	ENST00000311378.4	+	2	1673	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.P289L	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	382					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			ATGAGCGGGCCGCTGGCCGCG	0.652																																						uc002isv.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29						c.(1144-1146)cCg>cTg		Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.			LEU/PRO	0,4406		0,0,2203	42.0	40.0	41.0		1145	5.1	0.9	17		41	1,8595	1.2+/-3.3	0,1,4297	no	missense	WFIKKN2	NM_175575.5	98	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	382/577	48917794	1,13001	2203	4298	6501	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917794C>T	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1145C>T	17.37:g.48917794C>T	ENSP00000311184:p.Pro382Leu					WFIKKN2_uc010dbu.3_Missense_Mutation_p.P289L	p.P382L	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		1	1839	+			382					Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.1145C>T	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	c	14.06	2.421460	0.42918	0.0	1.16E-4	ENSG00000173714	ENST00000426127;ENST00000311378;ENST00000393226	D;D	0.82619	-1.63;-1.61	5.12	5.12	0.69794	Proteinase inhibitor I2, Kunitz metazoa (1);	0.121420	0.64402	D	0.000019	T	0.77287	0.4108	L	0.35723	1.085	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.71155	-0.4675	10	0.25106	T	0.35	.	18.5566	0.91088	0.0:1.0:0.0:0.0	.	382	Q8TEU8	WFKN2_HUMAN	L	289;382;88	ENSP00000405889:P289L;ENSP00000311184:P382L	ENSP00000311184:P382L	P	+	2	0	WFIKKN2	46272793	0.998000	0.40836	0.893000	0.35052	0.976000	0.68499	6.007000	0.70731	2.361000	0.80049	0.556000	0.70494	CCG		0.652	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575	
ABCA10	10349	broad.mit.edu	37	17	67188731	67188731	+	Missense_Mutation	SNP	C	C	T	rs138792982	byFrequency	TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr17:67188731C>T	ENST00000269081.4	-	17	2753	c.1844G>A	c.(1843-1845)cGa>cAa	p.R615Q	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	615	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ACCCCACTTTCGCTTCAGAAA	0.328																																						uc010dfa.1																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(1843-1845)cGa>cAa		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	137.0	144.0	142.0		1844	-3.4	0.0	17	dbSNP_134	142	8,8592	6.4+/-24.3	0,8,4292	yes	missense	ABCA10	NM_080282.3	43	0,10,6493	TT,TC,CC		0.093,0.0454,0.0769	probably-damaging	615/1544	67188731	10,12996	2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67188731C>T	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1844G>A	17.37:g.67188731C>T	ENSP00000269081:p.Arg615Gln					ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.R216Q	p.R615Q	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			16	2723	-	Breast(10;6.95e-12)		615			ABC transporter 1.		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.1844G>A	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878766	0.33162	4.54E-4	9.3E-4	ENSG00000154263	ENST00000269081	T	0.63255	-0.03	3.32	-3.42	0.04825	ABC transporter-like (1);	0.685899	0.10497	N	0.667770	T	0.33644	0.0870	N	0.16130	0.375	0.09310	N	1	P;P	0.43477	0.808;0.62	B;B	0.36666	0.23;0.068	T	0.29671	-1.0004	10	0.22109	T	0.4	.	5.9252	0.19108	0.0:0.4149:0.1297:0.4554	.	615;615	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	Q	615	ENSP00000269081:R615Q	ENSP00000269081:R615Q	R	-	2	0	ABCA10	64700326	0.000000	0.05858	0.000000	0.03702	0.978000	0.69477	-2.688000	0.00832	-0.847000	0.04168	-0.448000	0.05591	CGA		0.328	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
DNAH17	8632	broad.mit.edu	37	17	76557880	76557880	+	Silent	SNP	G	G	A	rs184174651	byFrequency	TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr17:76557880G>A	ENST00000585328.1	-	12	1876	c.1752C>T	c.(1750-1752)ccC>ccT	p.P584P	DNAH17_ENST00000389840.5_Silent_p.P584P	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	584	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCCGGCCACGGGAGGCATGT	0.577													G|||	2	0.000399361	0.0	0.0	5008	,	,		19200	0.002		0.0	False		,,,				2504	0.0					uc010dhp.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(1750-1752)ccC>ccT		Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.							41.0	39.0	40.0					17																	76557880		2203	4300	6503	SO:0001819	synonymous_variant	8632							g.chr17:76557880G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1752C>T	17.37:g.76557880G>A						DNAH17_uc002jvv.2_Silent_p.P286P	p.P584P	NM_173628	NP_775899			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		11	1877	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.1752C>T																																																																																					0.577	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628	
ANKRD12	23253	broad.mit.edu	37	18	9258903	9258903	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr18:9258903C>T	ENST00000262126.4	+	9	5878	c.5638C>T	c.(5638-5640)Ccc>Tcc	p.P1880S	ANKRD12_ENST00000383440.2_Missense_Mutation_p.P1857S|RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000400020.3_Missense_Mutation_p.P1857S	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1880						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P1880S(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GGATGGAAACCCCTTAAGCAA	0.383																																						uc002knv.3																			1	Substitution - Missense(1)	p.P1880S(2)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						c.(5638-5640)Ccc>Tcc		Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.							97.0	95.0	96.0					18																	9258903		2202	4297	6499	SO:0001583	missense	23253					nucleus		g.chr18:9258903C>T	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5638C>T	18.37:g.9258903C>T	ENSP00000262126:p.Pro1880Ser					ANKRD12_uc002knw.3_Missense_Mutation_p.P1857S|ANKRD12_uc002knx.3_Missense_Mutation_p.P1857S|ANKRD12_uc010dkx.1_Missense_Mutation_p.P1587S	p.P1880S	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			8	5902	+			1880					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.5638C>T	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889236	0.91889	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.67698	-0.28;-0.28	5.44	5.44	0.79542	.	0.116868	0.64402	D	0.000015	T	0.78168	0.4241	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.79165	-0.1916	10	0.72032	D	0.01	-8.3714	19.6223	0.95663	0.0:1.0:0.0:0.0	.	1857;1880	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	S	1857;1880	ENSP00000372932:P1857S;ENSP00000262126:P1880S	ENSP00000262126:P1880S	P	+	1	0	ANKRD12	9248903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.707000	0.92482	0.655000	0.94253	CCC		0.383	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208	
ATCAY	85300	broad.mit.edu	37	19	3907801	3907801	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr19:3907801C>T	ENST00000450849.2	+	5	895	c.428C>T	c.(427-429)aCg>aTg	p.T143M	ATCAY_ENST00000301260.6_Missense_Mutation_p.T143M|ATCAY_ENST00000600960.1_Missense_Mutation_p.T143M|ATCAY_ENST00000398448.3_Missense_Mutation_p.T149M	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	143					apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GACGGCACGACGGAGGACGGC	0.637																																						uc010xhz.2																			0				breast(1)|endometrium(2)|kidney(2)|lung(2)	7						c.(445-447)aCg>aTg		Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.							48.0	58.0	55.0					19																	3907801		2074	4206	6280	SO:0001583	missense	85300				transport		protein binding	g.chr19:3907801C>T		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.428C>T	19.37:g.3907801C>T	ENSP00000390941:p.Thr143Met					ATCAY_uc002lyy.4_Missense_Mutation_p.T143M|ATCAY_uc010dts.3_5'Flank	p.T149M			Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	5	929	+		Hepatocellular(1079;0.137)	143					Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	ENST00000450849.2	37	c.446C>T	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.617893	0.28801	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.36520	1.26;1.26;1.25	5.08	1.67	0.24075	.	0.999489	0.08097	N	0.998440	T	0.37128	0.0992	N	0.17082	0.46	0.09310	N	1	D;P	0.55605	0.972;0.932	P;P	0.62491	0.903;0.623	T	0.30297	-0.9983	10	0.31617	T	0.26	-1.3262	6.8543	0.24032	0.0:0.583:0.2663:0.1507	.	149;143	B4DS11;Q86WG3	.;ATCAY_HUMAN	M	143;143;143;149;121	ENSP00000390941:T143M;ENSP00000301260:T143M;ENSP00000381466:T149M	ENSP00000301260:T143M	T	+	2	0	ATCAY	3858801	0.004000	0.15560	0.000000	0.03702	0.082000	0.17680	0.474000	0.22148	0.166000	0.19597	0.638000	0.83543	ACG		0.637	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2		
HOMER3	9454	broad.mit.edu	37	19	19043763	19043784	+	Frame_Shift_Del	DEL	CGCTCTGTGGGGCCGGGGGCAT	CGCTCTGTGGGGCCGGGGGCAT	-	rs147820524|rs552061594|rs562250340	byFrequency	TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr19:19043763_19043784delCGCTCTGTGGGGCCGGGGGCAT	ENST00000539827.1	-	5	1134_1155	c.482_503delATGCCCCCGGCCCCACAGAGCG	c.(481-504)gatgcccccggccccacagagcgcfs	p.DAPGPTER161fs	HOMER3_ENST00000221222.11_Frame_Shift_Del_p.DAPGPTER161fs|HOMER3_ENST00000594794.1_Intron|HOMER3_ENST00000355887.6_Frame_Shift_Del_p.DAPGPTER161fs|HOMER3_ENST00000433218.2_Frame_Shift_Del_p.DAPGPTER161fs|HOMER3_ENST00000392351.3_Frame_Shift_Del_p.DAPGPTER161fs|HOMER3_ENST00000542541.2_Frame_Shift_Del_p.DAPGPTER161fs|HOMER3_ENST00000594439.1_Frame_Shift_Del_p.DAPGPTER125fs|AC002985.3_ENST00000596918.1_Frame_Shift_Del_p.MPPAPQSA56fs			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	161					G-protein coupled glutamate receptor signaling pathway (GO:0007216)|protein targeting (GO:0006605)	basal part of cell (GO:0045178)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			TAGCCGCTCGCGCTCTGTGGGGCCGGGGGCATCAGCGCTCTG	0.671																																						uc002nku.2																			0				endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						c.(481-504)gatgcccccggccccacagagcgcfs		Homo sapiens homer homolog 3 (Drosophila) (HOMER3), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	9454				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding	g.chr19:19043763_19043784delCGCTCTGTGGGGCCGGGGGCAT	Y18894	CCDS12391.1, CCDS46022.1, CCDS46023.1	19p13.1	2008-02-05				ENSG00000051128			17514	protein-coding gene	gene with protein product		604800				10653696, 9808459	Standard	NM_004838		Approved	HOMER-3	uc002nkv.2	Q9NSC5		ENST00000539827.1:c.482_503delATGCCCCCGGCCCCACAGAGCG	19.37:g.19043763_19043784delCGCTCTGTGGGGCCGGGGGCAT	ENSP00000439937:p.Asp161fs					HOMER3_uc002nkp.1_Non-coding_Transcript|HOMER3_uc002nko.1_Non-coding_Transcript|HOMER3_uc010eby.2_Frame_Shift_Del_p.D125fs|HOMER3_uc010ebz.2_Frame_Shift_Del_p.D161fs|HOMER3_uc002nkw.2_Frame_Shift_Del_p.D161fs|HOMER3_uc002nkv.2_Frame_Shift_Del_p.D161fs	p.D161fs	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Epithelial(12;0.0107)		4	1135_1156	-			161					E9PCW9|O14580|O95350|Q9NSB9|Q9NSC0|Q9NSC1	Frame_Shift_Del	DEL	ENST00000539827.1	37	c.482_503delATGCCCCCGGCCCCACAGAGCG	CCDS12391.1																																																																																				0.671	HOMER3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464607.1		
LSM14A	26065	broad.mit.edu	37	19	34710329	34710329	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr19:34710329G>A	ENST00000433627.5	+	7	890	c.815G>A	c.(814-816)cGt>cAt	p.R272H	LSM14A_ENST00000540746.2_Missense_Mutation_p.R231H|LSM14A_ENST00000544216.3_Missense_Mutation_p.R272H	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	272					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AGGAGAGGGCGTGGGGGTCAT	0.443																																						uc002nvb.4																			0		p.R272C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(814-816)cGt>cAt		Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.							70.0	81.0	77.0					19																	34710329		2203	4300	6503	SO:0001583	missense	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34710329G>A	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.815G>A	19.37:g.34710329G>A	ENSP00000413964:p.Arg272His					LSM14A_uc002nva.4_Missense_Mutation_p.R272H|LSM14A_uc010xru.2_Missense_Mutation_p.R231H|LSM14A_uc002nvc.4_Missense_Mutation_p.R78H	p.R272H	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN			6	1011	+	Esophageal squamous(110;0.162)		272					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	c.815G>A	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	g	34	5.398724	0.96030	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.37915	1.21;1.2;1.17	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.64000	0.2559	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.78314	0.953;0.991;0.93	T	0.59700	-0.7405	10	0.31617	T	0.26	-10.3844	20.0371	0.97565	0.0:0.0:1.0:0.0	.	231;272;272	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	H	272;272;231	ENSP00000446271:R272H;ENSP00000413964:R272H;ENSP00000446451:R231H	ENSP00000314768:R272H	R	+	2	0	LSM14A	39402169	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.464000	0.97655	2.734000	0.93682	0.655000	0.94253	CGT		0.443	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578	
SDC1	6382	broad.mit.edu	37	2	20403674	20403674	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr2:20403674T>C	ENST00000254351.4	-	3	771	c.527A>G	c.(526-528)cAc>cGc	p.H176R	SDC1_ENST00000381150.1_Missense_Mutation_p.H176R|SDC1_ENST00000403076.1_Intron|SDC1_ENST00000482879.1_Intron	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	176					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GTGGGGAGTGTGAAGGTCAGC	0.662																																						uc002rdo.1																			0				NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21						c.(526-528)cAc>cGc		Homo sapiens syndecan 1 (SDC1), transcript variant 2, mRNA.							104.0	99.0	101.0					2																	20403674		2203	4300	6503	SO:0001583	missense	6382				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	g.chr2:20403674T>C	AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.527A>G	2.37:g.20403674T>C	ENSP00000254351:p.His176Arg					SDC1_uc002rdp.1_Missense_Mutation_p.H176R|SDC1_uc010exv.3_Intron	p.H176R	NM_002997	NP_002988	P18827	SDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.221)	2	826	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		176					D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	ENST00000254351.4	37	c.527A>G	CCDS1697.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.306808	0.23821	.	.	ENSG00000115884	ENST00000254351;ENST00000381150;ENST00000429035	T;T;T	0.31769	2.34;2.34;1.48	3.44	1.01	0.19927	.	1.434210	0.04318	N	0.350120	T	0.36138	0.0956	M	0.63428	1.95	0.09310	N	1	B	0.34181	0.44	B	0.40782	0.34	T	0.37103	-0.9720	10	0.87932	D	0	-0.0099	3.4349	0.07442	0.0:0.1265:0.2374:0.6361	.	176	P18827	SDC1_HUMAN	R	176;176;184	ENSP00000254351:H176R;ENSP00000370542:H176R;ENSP00000400773:H184R	ENSP00000254351:H176R	H	-	2	0	SDC1	20267155	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.211000	0.17474	0.214000	0.20742	0.459000	0.35465	CAC		0.662	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207495.1	NM_001006946	
CHGB	1114	broad.mit.edu	37	20	5903378	5903378	+	Silent	SNP	C	C	T	rs149359798		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr20:5903378C>T	ENST00000378961.4	+	4	792	c.588C>T	c.(586-588)aaC>aaT	p.N196N		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	196						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGACACAAAACGCTTTTCTCA	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20835	0.0		0.0	False		,,,				2504	0.0					uc002wmg.3																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(586-588)aaC>aaT		Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.							87.0	91.0	89.0					20																	5903378		2203	4300	6503	SO:0001819	synonymous_variant	1114					extracellular region	hormone activity	g.chr20:5903378C>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.588C>T	20.37:g.5903378C>T						CHGB_uc010zqz.2_5'UTR	p.N196N	NM_001819	NP_001810	P05060	SCG1_HUMAN			3	894	+			196					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	c.588C>T	CCDS13092.1																																																																																				0.483	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819	
CD93	22918	broad.mit.edu	37	20	23066544	23066544	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr20:23066544C>T	ENST00000246006.4	-	1	433	c.286G>A	c.(286-288)Ggg>Agg	p.G96R		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	96	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGCTGGAGCCCAATCCAGAAC	0.642																																						uc002wsv.3																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(286-288)Ggg>Agg		Homo sapiens CD93 molecule (CD93), mRNA.							38.0	30.0	33.0					20																	23066544		2202	4298	6500	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23066544C>T	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.286G>A	20.37:g.23066544C>T	ENSP00000246006:p.Gly96Arg						p.G96R	NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN			0	434	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		96			C-type lectin.		O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.286G>A	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113133	0.94339	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	T	0.30714	1.52	5.58	5.58	0.84498	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	D	0.000013	T	0.71108	0.3301	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81180	-0.1050	10	0.87932	D	0	-42.1515	18.9352	0.92583	0.0:1.0:0.0:0.0	.	96	Q9NPY3	C1QR1_HUMAN	R	96	ENSP00000246006:G96R	ENSP00000246006:G96R	G	-	1	0	CD93	23014544	0.999000	0.42202	0.882000	0.34594	0.904000	0.53231	4.109000	0.57824	2.774000	0.95407	0.655000	0.94253	GGG		0.642	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072	
REM1	28954	broad.mit.edu	37	20	30070096	30070096	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr20:30070096A>T	ENST00000201979.2	+	4	723	c.430A>T	c.(430-432)Agc>Tgc	p.S144C		NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	144					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCAGGATAAAAGCTGGAGCCA	0.587																																						uc002wwa.3																			0				kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23						c.(430-432)Agc>Tgc		Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.							62.0	60.0	61.0					20																	30070096		2203	4300	6503	SO:0001583	missense	28954				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	g.chr20:30070096A>T	AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"""GTPase GES"""	610388	"""RAS (RAD and GEM)-like GTP-binding"""	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.430A>T	20.37:g.30070096A>T	ENSP00000201979:p.Ser144Cys						p.S144C	NM_014012	NP_054731	O75628	REM1_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		3	714	+	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		144					E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	ENST00000201979.2	37	c.430A>T	CCDS13181.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.520299	0.27211	.	.	ENSG00000088320	ENST00000201979	T	0.76709	-1.04	4.75	4.75	0.60458	Small GTP-binding protein domain (1);	0.337248	0.35291	N	0.003313	T	0.79557	0.4466	M	0.84683	2.71	0.35352	D	0.787453	B	0.10296	0.003	B	0.11329	0.006	T	0.82002	-0.0673	10	0.44086	T	0.13	.	13.6198	0.62130	1.0:0.0:0.0:0.0	.	144	O75628	REM1_HUMAN	C	144	ENSP00000201979:S144C	ENSP00000201979:S144C	S	+	1	0	REM1	29533757	0.048000	0.20356	0.967000	0.41034	0.371000	0.29859	1.685000	0.37659	1.975000	0.57531	0.533000	0.62120	AGC		0.587	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078508.2	NM_014012	
RBL1	5933	broad.mit.edu	37	20	35690525	35690525	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr20:35690525C>A	ENST00000373664.3	-	8	1111	c.1045G>T	c.(1045-1047)Gct>Tct	p.A349S	RBL1_ENST00000344359.3_Missense_Mutation_p.A349S	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	349					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCCACATTAGCCTGTGCTGTC	0.423																																						uc002xgi.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1045-1047)Gct>Tct		Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.							152.0	131.0	138.0					20																	35690525		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35690525C>A	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.1045G>T	20.37:g.35690525C>A	ENSP00000362768:p.Ala349Ser					RBL1_uc002xgj.1_Missense_Mutation_p.A349S|RBL1_uc010gfv.1_Non-coding_Transcript	p.A349S	NM_002895	NP_002886	P28749	RBL1_HUMAN			7	1124	-		Myeloproliferative disorder(115;0.00878)	349					A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.1045G>T	CCDS13289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.034|7.034	0.561295|0.561295	0.13498|0.13498	.|.	.|.	ENSG00000080839|ENSG00000080839	ENST00000373664;ENST00000344359|ENST00000525052	D;D|.	0.92545|.	-2.83;-3.06|.	5.04|5.04	3.05|3.05	0.35203|0.35203	.|.	0.675688|.	0.15146|.	N|.	0.277984|.	T|T	0.31575|0.31575	0.0801|0.0801	N|N	0.21373|0.21373	0.66|0.66	0.29094|0.29094	N|N	0.881899|0.881899	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.12156|.	0.007;0.001|.	T|T	0.22382|0.22382	-1.0218|-1.0218	10|5	0.07990|.	T|.	0.79|.	-17.1613|-17.1613	10.2972|10.2972	0.43631|0.43631	0.0:0.7844:0.0:0.2156|0.0:0.7844:0.0:0.2156	.|.	349;349|.	P28749-2;P28749|.	.;RBL1_HUMAN|.	S|S	349|153	ENSP00000362768:A349S;ENSP00000343646:A349S|.	ENSP00000343646:A349S|.	A|R	-|-	1|3	0|2	RBL1|RBL1	35123939|35123939	0.740000|0.740000	0.28207|0.28207	0.862000|0.862000	0.33874|0.33874	0.899000|0.899000	0.52679|0.52679	0.352000|0.352000	0.20113|0.20113	0.664000|0.664000	0.31047|0.31047	0.655000|0.655000	0.94253|0.94253	GCT|AGG		0.423	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895	
KRTAP11-1	337880	broad.mit.edu	37	21	32253366	32253366	+	Nonsense_Mutation	SNP	G	G	A	rs369918804		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr21:32253366G>A	ENST00000332378.4	-	1	508	c.478C>T	c.(478-480)Cga>Tga	p.R160*		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	160						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CAGGTTCTTCGGCAGCTGGAC	0.562																																						uc002yov.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						c.(478-480)Cga>Tga		Homo sapiens keratin associated protein 11-1 (KRTAP11-1), mRNA.		G	stop/ARG	0,4406		0,0,2203	70.0	69.0	69.0		478	2.5	1.0	21		69	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	KRTAP11-1	NM_175858.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		160/164	32253366	1,13005	2203	4300	6503	SO:0001587	stop_gained	337880					keratin filament	structural molecule activity	g.chr21:32253366G>A	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.478C>T	21.37:g.32253366G>A	ENSP00000330720:p.Arg160*						p.R160*	NM_175858	NP_787054	Q8IUC1	KR111_HUMAN			0	509	-			160					A1L4I8	Nonsense_Mutation	SNP	ENST00000332378.4	37	c.478C>T	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342661	0.82022	0.0	1.16E-4	ENSG00000182591	ENST00000332378	.	.	.	5.4	2.47	0.30058	.	0.160707	0.39544	N	0.001335	.	.	.	.	.	.	0.23144	N	0.998227	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-5.3305	7.0129	0.24873	0.0789:0.0:0.469:0.4522	.	.	.	.	X	160	.	ENSP00000330720:R160X	R	-	1	2	KRTAP11-1	31175237	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	1.260000	0.32968	0.312000	0.23038	-0.187000	0.12897	CGA		0.562	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1		
KCNH8	131096	broad.mit.edu	37	3	19574895	19574895	+	Silent	SNP	A	A	G	rs199880222		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr3:19574895A>G	ENST00000328405.2	+	16	2894	c.2628A>G	c.(2626-2628)acA>acG	p.T876T		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	876					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGGTAACAACATTGACTCAGG	0.413													A|||	1	0.000199681	0.0008	0.0	5008	,	,		18651	0.0		0.0	False		,,,				2504	0.0				NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(2626-2628)acA>acG		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.							80.0	73.0	76.0					3																	19574895		2203	4300	6503	SO:0001819	synonymous_variant	131096					integral to membrane	two-component sensor activity	g.chr3:19574895A>G	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2628A>G	3.37:g.19574895A>G						KCNH8_uc010hex.1_Silent_p.T337T	p.T876T	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			15	2823	+			876					B7Z2I7|Q59GQ6	Silent	SNP	ENST00000328405.2	37	c.2628A>G	CCDS2632.1																																																																																				0.413	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633	
ERC2	26059	broad.mit.edu	37	3	56468977	56468977	+	Missense_Mutation	SNP	C	C	T	rs200184138		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr3:56468977C>T	ENST00000288221.6	-	2	314	c.59G>A	c.(58-60)cGt>cAt	p.R20H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	20						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.R20H(2)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCTTGGCAAACGAGGGGATCT	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		17910	0.001		0.0	False		,,,				2504	0.0					uc021wzo.1																			2	Substitution - Missense(2)	p.R20H(3)	breast(2)	breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(58-60)cGt>cAt		Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.		C	HIS/ARG	1,3825		0,1,1912	98.0	94.0	95.0		59	5.5	1.0	3		95	1,8245		0,1,4122	no	missense	ERC2	NM_015576.1	29	0,2,6034	TT,TC,CC		0.0121,0.0261,0.0166	probably-damaging	20/958	56468977	2,12070	1913	4123	6036	SO:0001583	missense	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:56468977C>T	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.59G>A	3.37:g.56468977C>T	ENSP00000288221:p.Arg20His					ERC2_uc003dhr.1_Missense_Mutation_p.R20H	p.R20H	NM_015576	NP_056391	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	0	199	-			20					Q2T9F6|Q86TK4	Missense_Mutation	SNP	ENST00000288221.6	37	c.59G>A	CCDS46851.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	28.8	4.954224	0.92726	2.61E-4	1.21E-4	ENSG00000187672	ENST00000288221	T	0.57273	0.41	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.68714	0.3031	L	0.52573	1.65	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.70208	-0.4935	10	0.87932	D	0	-13.9449	19.6793	0.95956	0.0:1.0:0.0:0.0	.	20	O15083	ERC2_HUMAN	H	20	ENSP00000288221:R20H	ENSP00000288221:R20H	R	-	2	0	ERC2	56444017	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.744000	0.85034	2.713000	0.92767	0.655000	0.94253	CGT		0.468	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576	
SLC33A1	9197	broad.mit.edu	37	3	155547581	155547581	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr3:155547581C>T	ENST00000392845.3	-	5	1758	c.1378G>A	c.(1378-1380)Gga>Aga	p.G460R	SLC33A1_ENST00000359479.3_Missense_Mutation_p.G460R			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	460					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGCCAGTTTCCTCCCAGATTG	0.428																																						uc003fan.4																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22						c.(1378-1380)Gga>Aga		Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA.							129.0	110.0	117.0					3																	155547581		2203	4300	6503	SO:0001583	missense	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155547581C>T	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.1378G>A	3.37:g.155547581C>T	ENSP00000376587:p.Gly460Arg					SLC33A1_uc003fao.2_Missense_Mutation_p.G460R|SLC33A1_uc003fap.1_Non-coding_Transcript	p.G460R	NM_001190992	NP_004724	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		4	1840	-			460					B2R5Q2|D3DNK4	Missense_Mutation	SNP	ENST00000392845.3	37	c.1378G>A	CCDS3173.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.542676|5.542676	0.96474|0.96474	.|.	.|.	ENSG00000169359|ENSG00000169359	ENST00000392845;ENST00000359479;ENST00000496772|ENST00000475842	T;T;T|.	0.52526|.	0.66;0.66;0.66|.	5.76|5.76	5.76|5.76	0.90799|0.90799	Major facilitator superfamily domain, general substrate transporter (1);|.	0.046602|.	0.85682|.	D|.	0.000000|.	D|D	0.86994|0.86994	0.6067|0.6067	M|M	0.92507|0.92507	3.315|3.315	0.80722|0.80722	D|D	1|1	D|.	0.63880|.	0.993|.	D|.	0.71184|.	0.972|.	D|D	0.89268|0.89268	0.3602|0.3602	10|5	0.30078|.	T|.	0.28|.	-11.8079|-11.8079	20.0093|20.0093	0.97446|0.97446	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	460|.	O00400|.	ACATN_HUMAN|.	R|K	460;460;96|179	ENSP00000376587:G460R;ENSP00000352456:G460R;ENSP00000419165:G96R|.	ENSP00000352456:G460R|.	G|R	-|-	1|2	0|0	SLC33A1|SLC33A1	157030275|157030275	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.704000|7.704000	0.84595|0.84595	2.738000|2.738000	0.93877|0.93877	0.585000|0.585000	0.79938|0.79938	GGA|AGG		0.428	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733	
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						uc021xjp.1																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	p.H4205Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	1	12771	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
ABCG2	9429	broad.mit.edu	37	4	89061129	89061129	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr4:89061129C>T	ENST00000237612.3	-	2	564	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	ABCG2_ENST00000515655.1_Missense_Mutation_p.E7K	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	7					cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	ATAAAAACTTCGACATTACTG	0.413																																						uc003hrg.3																			0		p.E7D(1)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(19-21)Gaa>Aaa		Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						56.0	55.0	55.0					4																	89061129		2203	4300	6503	SO:0001583	missense	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89061129C>T	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.19G>A	4.37:g.89061129C>T	ENSP00000237612:p.Glu7Lys					ABCG2_uc003hrh.3_Missense_Mutation_p.E7K|ABCG2_uc003hri.1_Missense_Mutation_p.E7K|ABCG2_uc003hrj.1_Missense_Mutation_p.E7K|ABCG2_uc003hrk.1_Missense_Mutation_p.E7K	p.E7K	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	1	512	-		Hepatocellular(203;0.114)	7					A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	c.19G>A	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317444	0.23908	.	.	ENSG00000118777	ENST00000515655;ENST00000237612;ENST00000505480;ENST00000503830	D;D;T;T	0.86097	-2.07;-1.95;-0.26;-0.25	5.41	1.71	0.24356	.	0.657679	0.16410	N	0.215609	T	0.68311	0.2987	N	0.08118	0	0.09310	N	1	B;B	0.19935	0.04;0.002	B;B	0.14023	0.01;0.002	T	0.54153	-0.8336	10	0.31617	T	0.26	-0.2165	9.5977	0.39584	0.0819:0.4724:0.4458:0.0	.	7;7	Q9UNQ0-2;Q9UNQ0	.;ABCG2_HUMAN	K	7;7;45;25	ENSP00000426917:E7K;ENSP00000237612:E7K;ENSP00000426916:E45K;ENSP00000426934:E25K	ENSP00000237612:E7K	E	-	1	0	ABCG2	89280153	0.002000	0.14202	0.000000	0.03702	0.093000	0.18481	0.585000	0.23879	0.004000	0.14682	0.650000	0.86243	GAA		0.413	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827	
TRAM1L1	133022	broad.mit.edu	37	4	118005603	118005603	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr4:118005603A>G	ENST00000310754.4	-	1	1133	c.947T>C	c.(946-948)aTt>aCt	p.I316T		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	316	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						CCAGAGAGTAATTAAGTTCCA	0.408																																						uc003ibv.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(946-948)aTt>aCt		Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.							141.0	138.0	139.0					4																	118005603		2203	4300	6503	SO:0001583	missense	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118005603A>G	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.947T>C	4.37:g.118005603A>G	ENSP00000309402:p.Ile316Thr						p.I316T	NM_152402	NP_689615	Q8N609	TR1L1_HUMAN			0	1134	-			316			TLC.		Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	c.947T>C	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	A	3.670	-0.067781	0.07228	.	.	ENSG00000174599	ENST00000310754	T	0.55588	0.51	3.59	2.43	0.29744	TRAM/LAG1/CLN8 homology domain (2);	0.351789	0.32328	N	0.006255	T	0.39436	0.1078	L	0.32530	0.975	0.19300	N	0.999978	B	0.18863	0.031	B	0.30782	0.12	T	0.34551	-0.9824	10	0.56958	D	0.05	-1.7762	5.0615	0.14559	0.8603:0.0:0.1397:0.0	.	316	Q8N609	TR1L1_HUMAN	T	316	ENSP00000309402:I316T	ENSP00000309402:I316T	I	-	2	0	TRAM1L1	118225051	0.969000	0.33509	0.003000	0.11579	0.040000	0.13550	3.394000	0.52551	0.749000	0.32854	0.528000	0.53228	ATT		0.408	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402	
DNAH5	1767	broad.mit.edu	37	5	13901576	13901576	+	Missense_Mutation	SNP	C	C	T	rs141072655		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr5:13901576C>T	ENST00000265104.4	-	14	1941	c.1837G>A	c.(1837-1839)Gat>Aat	p.D613N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	613	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGGAGGATCGTATTTCTGC	0.448									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(1837-1839)Gat>Aat		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.		C	ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	70.0	67.0	68.0		1837	5.7	0.2	5	dbSNP_134	68	0,8600		0,0,4300	no	missense	DNAH5	NM_001369.2	23	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	613/4625	13901576	2,13004	2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13901576C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1837G>A	5.37:g.13901576C>T	ENSP00000265104:p.Asp613Asn						p.D613N	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			13	1879	-	Lung NSC(4;0.00476)		613			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.1837G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445574	0.43429	4.54E-4	0.0	ENSG00000039139	ENST00000265104	T	0.54479	0.57	5.69	5.69	0.88448	Dynein heavy chain, domain-1 (1);	0.049529	0.85682	D	0.000000	T	0.50803	0.1637	L	0.52126	1.63	0.80722	D	1	B	0.15141	0.012	B	0.26864	0.074	T	0.45614	-0.9249	10	0.13108	T	0.6	.	19.7949	0.96477	0.0:1.0:0.0:0.0	.	613	Q8TE73	DYH5_HUMAN	N	613	ENSP00000265104:D613N	ENSP00000265104:D613N	D	-	1	0	DNAH5	13954576	1.000000	0.71417	0.213000	0.23690	0.643000	0.38383	5.934000	0.70138	2.691000	0.91804	0.591000	0.81541	GAT		0.448	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
PRDM9	56979	broad.mit.edu	37	5	23527545	23527545	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr5:23527545G>A	ENST00000296682.3	+	11	2530	c.2348G>A	c.(2347-2349)cGg>cAg	p.R783Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	783					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAGTGTGGGCGGGGCTTTAGA	0.577										HNSCC(3;0.000094)																												uc003jgo.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2347-2349)cGg>cAg		Homo sapiens PR domain containing 9 (PRDM9), mRNA.							86.0	81.0	83.0					5																	23527545		2191	4290	6481	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527545G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2348G>A	5.37:g.23527545G>A	ENSP00000296682:p.Arg783Gln	HNSCC(3;0.000094)					p.R783Q	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			10	2530	+			783					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2348G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	7.246	0.602343	0.13939	.	.	ENSG00000164256	ENST00000296682	T	0.18960	2.18	3.09	0.242	0.15498	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16085	0.0387	L	0.45470	1.425	0.19775	N	0.999958	B	0.30179	0.271	B	0.24155	0.051	T	0.19647	-1.0299	9	0.72032	D	0.01	.	6.0062	0.19547	0.5121:0.0:0.4879:0.0	.	783	Q9NQV7	PRDM9_HUMAN	Q	783	ENSP00000296682:R783Q	ENSP00000296682:R783Q	R	+	2	0	PRDM9	23563302	0.003000	0.15002	0.782000	0.31804	0.006000	0.05464	0.972000	0.29409	0.037000	0.15575	-0.361000	0.07541	CGG		0.577	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
EMB	133418	broad.mit.edu	37	5	49698154	49698154	+	Splice_Site	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr5:49698154C>T	ENST00000303221.5	-	7	1093		c.e7-1		EMB_ENST00000506190.1_5'Flank|EMB_ENST00000508934.1_Splice_Site|EMB_ENST00000514111.1_Splice_Site	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin						cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTCCCCTCATCTGTGTAACAA	0.318																																						uc003jom.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15						c.e7-1		Homo sapiens embigin (EMB), mRNA.							55.0	58.0	57.0					5																	49698154		2201	4292	6493	SO:0001630	splice_region_variant	133418					integral to membrane		g.chr5:49698154C>T	BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30465	protein-coding gene	gene with protein product		615669	"""embigin homolog (mouse)"""			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.878-1G>A	5.37:g.49698154C>T						EMB_uc010ivq.3_Splice_Site_p.D87_splice|EMB_uc003jol.3_Splice_Site_p.D224_splice|EMB_uc011cpy.2_Splice_Site_p.D243_splice	p.D293_splice	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN			7	1127	-	Lung SC(58;0.218)	Lung NSC(810;0.0795)	293					B7Z6S3|B7Z902	Splice_Site	SNP	ENST00000303221.5	37	c.878_splice	CCDS3953.1	.	.	.	.	.	.	.	.	.	.	C	9.523	1.108789	0.20714	.	.	ENSG00000170571	ENST00000303221;ENST00000510295;ENST00000508934;ENST00000514111	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4595	0.75342	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EMB	49733911	1.000000	0.71417	0.969000	0.41365	0.087000	0.18053	4.463000	0.60128	2.431000	0.82371	0.455000	0.32223	.		0.318	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253853.1	NM_198449	Intron
OCLN	100506658	broad.mit.edu	37	5	68805174	68805174	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr5:68805174C>T	ENST00000355237.2	+	3	693	c.257C>T	c.(256-258)aCg>aTg	p.T86M	OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000380766.2_Missense_Mutation_p.T86M|OCLN_ENST00000396442.2_Missense_Mutation_p.T86M	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	86	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GTGGCCTCCACGCTTGCCTGG	0.507																																						uc003jwu.3																			0				endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6						c.(256-258)aCg>aTg		Homo sapiens occludin (OCLN), transcript variant 1, mRNA.							193.0	182.0	186.0					5																	68805174		2203	4300	6503	SO:0001583	missense	4950				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity	g.chr5:68805174C>T	U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.257C>T	5.37:g.68805174C>T	ENSP00000347379:p.Thr86Met					OCLN_uc003jwv.4_Missense_Mutation_p.T86M|OCLN_uc021xzq.1_Intron|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_5'UTR|OCLN_uc021xzt.1_Intron	p.T86M	NM_002538	NP_001192184	Q16625	OCLN_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	2	693	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	86			MARVEL.		B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP	ENST00000355237.2	37	c.257C>T	CCDS4006.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.660963	0.88154	.	.	ENSG00000197822	ENST00000355237;ENST00000396442;ENST00000380766	T;T;T	0.26810	1.71;1.71;1.71	6.04	6.04	0.98038	Marvel (1);MARVEL-like domain (1);	0.044623	0.85682	D	0.000000	T	0.57888	0.2084	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60120	-0.7325	10	0.87932	D	0	-29.8201	19.3663	0.94464	0.0:1.0:0.0:0.0	.	86	Q16625	OCLN_HUMAN	M	86	ENSP00000347379:T86M;ENSP00000379719:T86M;ENSP00000370143:T86M	ENSP00000347379:T86M	T	+	2	0	OCLN	68840930	1.000000	0.71417	0.982000	0.44146	0.991000	0.79684	7.702000	0.84576	2.873000	0.98535	0.563000	0.77884	ACG		0.507	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1	NM_002538	
PKHD1	5314	broad.mit.edu	37	6	51491843	51491843	+	Missense_Mutation	SNP	G	G	A	rs151198392|rs35002037	byFrequency	TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr6:51491843G>A	ENST00000371117.3	-	66	12012	c.11737C>T	c.(11737-11739)Cgc>Tgc	p.R3913C		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3913			R -> H (in dbSNP:rs2661487).		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GATTCTCGGCGTTTGGATGAG	0.433													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17475	0.0		0.0	False		,,,				2504	0.0					uc003pah.1																			0		p.R3913R(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	GRCh37	CM052352	PKHD1	M	rs35002037	c.(11737-11739)Cgc>Tgc		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	287.0	275.0	279.0		11737	-2.9	0.0	6	dbSNP_134	279	0,8600		0,0,4300	yes	missense	PKHD1	NM_138694.3	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	3913/4075	51491843	2,13004	2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51491843G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11737C>T	6.37:g.51491843G>A	ENSP00000360158:p.Arg3913Cys						p.R3913C	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			65	12013	-	Lung NSC(77;0.0605)		3913		R -> H (in dbSNP:rs2661487).			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.11737C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289354	0.23478	4.54E-4	0.0	ENSG00000170927	ENST00000371117	D	0.85773	-2.03	5.0	-2.92	0.05615	.	1.617350	0.03443	N	0.209548	T	0.46405	0.1391	N	0.03115	-0.41	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.48186	-0.9057	10	0.52906	T	0.07	.	6.0625	0.19846	0.3856:0.0:0.4907:0.1237	.	3913	P08F94	PKHD1_HUMAN	C	3913	ENSP00000360158:R3913C	ENSP00000360158:R3913C	R	-	1	0	PKHD1	51599802	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	-0.514000	0.06298	-0.356000	0.08187	-0.937000	0.02696	CGC		0.433	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
COL12A1	1303	broad.mit.edu	37	6	75898089	75898089	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr6:75898089C>A	ENST00000322507.8	-	8	1295	c.986G>T	c.(985-987)aGt>aTt	p.S329I	COL12A1_ENST00000483888.2_Missense_Mutation_p.S329I|COL12A1_ENST00000416123.2_Missense_Mutation_p.S329I|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	329					cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCTTCTCCACTAACCAATTC	0.373																																						uc021zbv.1																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(985-987)aGt>aTt		Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.							209.0	192.0	198.0					6																	75898089		1950	4145	6095	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75898089C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.986G>T	6.37:g.75898089C>A	ENSP00000325146:p.Ser329Ile					COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.S329I|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_5'UTR	p.S329I	NM_004370	NP_004361	Q99715	COCA1_HUMAN			6	1021	-			329					O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.986G>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367825	0.82463	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	D;D;D	0.87334	-2.23;-2.24;-2.21	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.91737	0.7387	L	0.56769	1.78	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	D	0.90164	0.4230	10	0.49607	T	0.09	.	20.6282	0.99521	0.0:1.0:0.0:0.0	.	329	Q99715	COCA1_HUMAN	I	329	ENSP00000325146:S329I;ENSP00000412864:S329I;ENSP00000421216:S329I	ENSP00000325146:S329I	S	-	2	0	COL12A1	75954809	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.484000	0.81180	2.871000	0.98454	0.655000	0.94253	AGT		0.373	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
DOPEY1	23033	broad.mit.edu	37	6	83841949	83841949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr6:83841949C>T	ENST00000349129.2	+	18	2931	c.2671C>T	c.(2671-2673)Cag>Tag	p.Q891*	DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q882*|DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q872*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	891					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCAGCATCACCAGAAGAGTGT	0.373																																						uc011dyy.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(2644-2646)Cag>Tag		Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.							150.0	146.0	147.0					6																	83841949		2203	4300	6503	SO:0001587	stop_gained	23033				protein transport			g.chr6:83841949C>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.2671C>T	6.37:g.83841949C>T	ENSP00000195654:p.Gln891*					DOPEY1_uc003pjs.1_Nonsense_Mutation_p.Q891*|DOPEY1_uc010kbl.1_Nonsense_Mutation_p.Q882*	p.Q882*	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	17	2904	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	891					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Nonsense_Mutation	SNP	ENST00000349129.2	37	c.2644C>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	42	9.728009	0.99249	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	20.0782	0.97758	0.0:1.0:0.0:0.0	.	.	.	.	X	891;872;872	.	ENSP00000237163:Q872X	Q	+	1	0	DOPEY1	83898668	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.641000	0.67881	2.746000	0.94184	0.655000	0.94253	CAG		0.373	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018	
PREP	5550	broad.mit.edu	37	6	105771589	105771589	+	Missense_Mutation	SNP	C	C	T	rs141737006		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr6:105771589C>T	ENST00000369110.3	-	10	1460	c.1268G>A	c.(1267-1269)cGa>cAa	p.R423Q		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	423					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GGTCACCTCTCGGAAAACTCT	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		22524	0.0		0.001	False		,,,				2504	0.0					uc003prc.3																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(1267-1269)cGa>cAa		Homo sapiens prolyl endopeptidase (PREP), mRNA.	Oxytocin(DB00107)	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	169.0	156.0	161.0		1268	5.9	1.0	6	dbSNP_134	161	1,8599	1.2+/-3.3	0,1,4299	no	missense	PREP	NM_002726.4	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	423/711	105771589	2,13004	2203	4300	6503	SO:0001583	missense	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105771589C>T		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.1268G>A	6.37:g.105771589C>T	ENSP00000358106:p.Arg423Gln						p.R423Q	NM_002726	NP_002717	P48147	PPCE_HUMAN			9	1501	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	423					Q8N6D4	Missense_Mutation	SNP	ENST00000369110.3	37	c.1268G>A	CCDS5053.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.821119|4.821119	0.90873|0.90873	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000085377|ENSG00000085377	ENST00000448705|ENST00000369110;ENST00000535457	.|T	.|0.31769	.|1.48	5.91|5.91	5.91|5.91	0.95273|0.95273	.|Peptidase S9A, oligopeptidase, N-terminal (1);Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.30665|0.30665	0.0772|0.0772	M|M	0.62016|0.62016	1.91|1.91	0.80722|0.80722	D|D	1|1	.|D	.|0.63880	.|0.993	.|P	.|0.46026	.|0.501	T|T	0.03630|0.03630	-1.1018|-1.1018	5|10	.|0.42905	.|T	.|0.14	-8.3645|-8.3645	20.3057|20.3057	0.98631|0.98631	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|423	.|P48147	.|PPCE_HUMAN	K|Q	19|423;18	.|ENSP00000358106:R423Q	.|ENSP00000358106:R423Q	E|R	-|-	1|2	0|0	PREP|PREP	105878282|105878282	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	7.459000|7.459000	0.80802|0.80802	2.791000|2.791000	0.96007|0.96007	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.408	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1		
CDCA7L	55536	broad.mit.edu	37	7	21939697	21939697	+	IGR	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr7:21939697C>T	ENST00000406877.3	-	0	3066				DNAH11_ENST00000328843.6_Missense_Mutation_p.P4428L|DNAH11_ENST00000409508.3_Missense_Mutation_p.P4421L	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like						positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TATGGACACCCGCCAAGGGAA	0.488																																						uc003svc.3																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(13282-13284)cCg>cTg		Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.							56.0	57.0	57.0					7																	21939697		1889	4108	5997	SO:0001628	intergenic_variant	8701	Kartagener syndrome			microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21939697C>T		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429		7.37:g.21939697C>T							p.P4428L	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			81	13314	+			4428					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.13283C>T	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376136	0.82682	.	.	ENSG00000105877	ENST00000328843	T	0.08282	3.11	5.52	5.52	0.82312	Dynein heavy chain (1);	0.049527	0.85682	D	0.000000	T	0.29423	0.0733	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.64506	0.926	T	0.00945	-1.1505	9	0.72032	D	0.01	.	18.2299	0.89931	0.0:1.0:0.0:0.0	.	4428	Q96DT5	DYH11_HUMAN	L	4428	ENSP00000330671:P4428L	ENSP00000330671:P4428L	P	+	2	0	DNAH11	21906222	0.422000	0.25473	0.898000	0.35279	0.431000	0.31685	4.888000	0.63164	2.581000	0.87130	0.655000	0.94253	CCG		0.488	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719	
PPP1R9A	55607	broad.mit.edu	37	7	94879506	94879506	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr7:94879506T>C	ENST00000433881.1	+	9	2801	c.2269T>C	c.(2269-2271)Tat>Cat	p.Y757H	PPP1R9A_ENST00000289495.5_Missense_Mutation_p.Y757H|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.Y757H|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.Y757H|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.Y757H|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.Y779H			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	757	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCAAAGCCAGTATCAGGCCTT	0.373										HNSCC(28;0.073)																												uc003unp.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(2269-2271)Tat>Cat		Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.							72.0	68.0	69.0					7																	94879506		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94879506T>C	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2269T>C	7.37:g.94879506T>C	ENSP00000398870:p.Tyr757His	HNSCC(28;0.073)				PPP1R9A_uc010lfj.3_Missense_Mutation_p.Y779H|PPP1R9A_uc011kif.2_Missense_Mutation_p.Y757H|PPP1R9A_uc003unq.3_Missense_Mutation_p.Y757H|PPP1R9A_uc011kig.2_Missense_Mutation_p.Y757H	p.Y757H	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		8	2551	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		757			Interacts with TGN38 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.2269T>C	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.921058	0.73213	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.18016	2.24;2.27;2.25;2.27;2.28;2.25	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.27629	0.0679	L	0.56280	1.765	0.53005	D	0.999966	P;P;P;D;P	0.53312	0.609;0.729;0.729;0.959;0.861	B;P;P;P;B	0.50791	0.168;0.544;0.544;0.65;0.275	T	0.00953	-1.1502	10	0.48119	T	0.1	.	15.5801	0.76428	0.0:0.0:0.0:1.0	.	757;757;779;757;757	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	H	779;757;757;757;757;757	ENSP00000405514:Y779H;ENSP00000344524:Y757H;ENSP00000411342:Y757H;ENSP00000398870:Y757H;ENSP00000289495:Y757H;ENSP00000402893:Y757H	ENSP00000289495:Y757H	Y	+	1	0	PPP1R9A	94717442	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.127000	0.71642	2.326000	0.78906	0.533000	0.62120	TAT		0.373	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160	
IRF5	3663	broad.mit.edu	37	7	128585975	128585975	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr7:128585975G>A	ENST00000402030.2	+	3	344	c.272G>A	c.(271-273)cGc>cAc	p.R91H	IRF5_ENST00000249375.4_Missense_Mutation_p.R91H|IRF5_ENST00000477535.1_Missense_Mutation_p.R91H|IRF5_ENST00000473745.1_Missense_Mutation_p.R91H|IRF5_ENST00000357234.5_Missense_Mutation_p.R91H	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	91					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GCCAACCTGCGCTGTGCCCTT	0.612																																						uc003voh.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						c.(271-273)cGc>cAc		Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 6, mRNA.							89.0	74.0	79.0					7																	128585975		2203	4300	6503	SO:0001583	missense	3663				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:128585975G>A		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.272G>A	7.37:g.128585975G>A	ENSP00000385352:p.Arg91His					IRF5_uc010llr.1_Missense_Mutation_p.R91H|IRF5_uc011kot.1_Missense_Mutation_p.R91H|IRF5_uc011kou.1_Missense_Mutation_p.R91H|IRF5_uc010lls.1_Missense_Mutation_p.R91H|IRF5_uc003vog.3_Missense_Mutation_p.R91H|IRF5_uc010llt.3_Missense_Mutation_p.R91H|IRF5_uc003voi.3_Missense_Mutation_p.R91H|IRF5_uc010llu.1_Missense_Mutation_p.R91H|IRF5_uc003vok.2_Missense_Mutation_p.R91H|IRF5_uc003voj.4_Missense_Mutation_p.R91H|IRF5_uc010llv.1_Missense_Mutation_p.R91H|IRF5_uc010llw.1_Missense_Mutation_p.R91H	p.R91H	NM_001098630	NP_116032	Q13568	IRF5_HUMAN			2	393	+			91					A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	c.272G>A	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851515	0.91355	.	.	ENSG00000128604	ENST00000489702;ENST00000357234;ENST00000477535;ENST00000430204;ENST00000479582;ENST00000464557;ENST00000402030;ENST00000249375;ENST00000453794;ENST00000473745;ENST00000412326	D;D;D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	5.14	4.24	0.50183	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.096809	0.46145	D	0.000303	D	0.99155	0.9708	H	0.95114	3.625	0.58432	D	0.999999	D;D;D;D;D;D;B;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.385;1.0	D;D;D;D;D;D;B;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;0.101;0.996	D	0.98776	1.0730	10	0.87932	D	0	-8.2439	11.9	0.52678	0.088:0.0:0.912:0.0	.	91;91;91;91;91;91;91;91	B4DLN8;B7Z1M2;F5H3H8;E7EW54;E9PC81;Q1A7B4;Q13568;Q13568-2	.;.;.;.;.;.;IRF5_HUMAN;.	H	91	ENSP00000418037:R91H;ENSP00000349770:R91H;ENSP00000419950:R91H;ENSP00000417770:R91H;ENSP00000419056:R91H;ENSP00000385352:R91H;ENSP00000249375:R91H;ENSP00000419149:R91H	ENSP00000249375:R91H	R	+	2	0	IRF5	128373211	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	9.420000	0.97426	2.396000	0.81511	0.555000	0.69702	CGC		0.612	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627	
OR2A12	346525	broad.mit.edu	37	7	143792799	143792799	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr7:143792799C>T	ENST00000408949.2	+	1	659	c.599C>T	c.(598-600)gCg>gTg	p.A200V		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A200V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GTCCTATTTGCGGGTTCTGCG	0.532																																						uc011kty.2																			1	Substitution - Missense(1)	p.A200V(2)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(598-600)gCg>gTg		Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.							200.0	194.0	196.0					7																	143792799		2016	4181	6197	SO:0001583	missense	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792799C>T		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.599C>T	7.37:g.143792799C>T	ENSP00000386174:p.Ala200Val						p.A200V	NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN			0	599	+	Melanoma(164;0.0783)		200					Q6IF43	Missense_Mutation	SNP	ENST00000408949.2	37	c.599C>T	CCDS43670.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.786891	0.00628	.	.	ENSG00000221858	ENST00000408949	T	0.00031	8.89	4.23	-3.66	0.04489	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.21508	0.67	0.09310	N	1	B	0.15930	0.015	B	0.23150	0.044	T	0.22312	-1.0220	9	0.02654	T	1	-0.9631	7.0043	0.24828	0.1369:0.1976:0.0:0.6655	.	200	Q8NGT7	O2A12_HUMAN	V	200	ENSP00000386174:A200V	ENSP00000386174:A200V	A	+	2	0	OR2A12	143423732	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.159000	0.03150	-0.716000	0.04962	0.505000	0.49811	GCG		0.532	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1		
CSMD1	64478	broad.mit.edu	37	8	3057257	3057257	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:3057257C>T	ENST00000520002.1	-	34	5731	c.5176G>A	c.(5176-5178)Ggc>Agc	p.G1726S	CSMD1_ENST00000602723.1_Missense_Mutation_p.G1726S|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1726S|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1725S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1726S|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1725S|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1725S|CSMD1_ENST00000523387.1_5'UTR			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1726	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGTGGAAGCCGCGGGCAGAG	0.512																																						uc022aqr.1																			0				breast(20)|large_intestine(5)	25						c.(5173-5175)Ggc>Agc		Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.							31.0	33.0	33.0					8																	3057257		1961	4185	6146	SO:0001583	missense	64478					integral to membrane		g.chr8:3057257C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5176G>A	8.37:g.3057257C>T	ENSP00000430733:p.Gly1726Ser					CSMD1_uc011kwj.2_Missense_Mutation_p.G1118S|CSMD1_uc003wqe.3_Missense_Mutation_p.G882S	p.G1725S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	32	5563	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1726			CUB 10.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.5173G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.596947|4.596947	0.87055|0.87055	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|T	0.33438|0.18810	1.41;1.41;1.41;1.41;1.41|2.19	5.46|5.46	5.46|5.46	0.80206|0.80206	CUB (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62853|0.62853	0.2462|0.2462	H|H	0.97491|0.97491	4.015|4.015	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;1.0|.	T|T	0.71027|0.71027	-0.4711|-0.4711	10|7	0.87932|0.23891	D|T	0|0.37	.|.	19.6793|19.6793	0.95956|0.95956	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1726;1726;1726|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	S|Q	1726;1726;1588;1725;1725;1725|1205	ENSP00000383047:G1726S;ENSP00000430733:G1726S;ENSP00000441462:G1725S;ENSP00000446243:G1725S;ENSP00000441675:G1725S|ENSP00000334828:R1205Q	ENSP00000320445:G1588S|ENSP00000334828:R1205Q	G|R	-|-	1|2	0|0	CSMD1|CSMD1	3044664|3044664	1.000000|1.000000	0.71417|0.71417	0.261000|0.261000	0.24466|0.24466	0.296000|0.296000	0.27459|0.27459	7.593000|7.593000	0.82686|0.82686	2.713000|2.713000	0.92767|0.92767	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.512	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
MSR1	4481	broad.mit.edu	37	8	15978016	15978016	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:15978016C>T	ENST00000262101.5	-	9	1254	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	MSR1_ENST00000355282.2_Intron|MSR1_ENST00000350896.3_Intron|MSR1_ENST00000445506.2_Missense_Mutation_p.R396H			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	378	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CACTTCCCAGCGATCGTCACA	0.562																																						uc010lsu.3																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1186-1188)cGc>cAc		Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.							120.0	116.0	117.0					8																	15978016		2203	4300	6503	SO:0001583	missense	4481				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:15978016C>T	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.1133G>A	8.37:g.15978016C>T	ENSP00000262101:p.Arg378His					MSR1_uc003wwz.3_Missense_Mutation_p.R378H|MSR1_uc003wxa.3_Intron	p.R396H	NM_138715	NP_619729	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	8	1251	-			378			SRCR.		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	ENST00000262101.5	37	c.1187G>A	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566668	0.28003	.	.	ENSG00000038945	ENST00000262101;ENST00000445506	T;T	0.28255	1.62;1.62	4.84	-2.37	0.06643	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.919485	0.08996	N	0.863671	T	0.11067	0.0270	N	0.02697	-0.525	0.34928	D	0.749103	B;B	0.13145	0.007;0.007	B;B	0.08055	0.003;0.003	T	0.37478	-0.9704	10	0.19147	T	0.46	.	7.7119	0.28682	0.0:0.1623:0.1251:0.7126	.	396;378	B4DDJ5;P21757	.;MSRE_HUMAN	H	378;396	ENSP00000262101:R378H;ENSP00000405453:R396H	ENSP00000262101:R378H	R	-	2	0	MSR1	16022387	0.000000	0.05858	0.929000	0.37066	0.478000	0.33099	-2.568000	0.00915	-0.512000	0.06505	0.655000	0.94253	CGC		0.562	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2		
CDCA2	157313	broad.mit.edu	37	8	25341581	25341581	+	Missense_Mutation	SNP	C	C	A	rs199672795		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:25341581C>A	ENST00000330560.3	+	10	1697	c.1220C>A	c.(1219-1221)tCt>tAt	p.S407Y	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.S392Y	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	407					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTTGATGAATCTTTGCCAGCA	0.428																																						uc003xep.1																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(1219-1221)tCt>tAt		Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.							90.0	88.0	89.0					8																	25341581		2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25341581C>A	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1220C>A	8.37:g.25341581C>A	ENSP00000328228:p.Ser407Tyr					DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.S407Y|CDCA2_uc003xeq.1_Missense_Mutation_p.S392Y|CDCA2_uc003xer.1_Missense_Mutation_p.S70Y	p.S407Y	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	9	1697	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	407					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.1220C>A	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.398300	0.83120	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.36520	1.25;1.25	6.01	6.01	0.97437	.	0.146689	0.46758	D	0.000277	T	0.60327	0.2260	M	0.70595	2.14	0.43846	D	0.996435	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.993;0.993	T	0.58962	-0.7543	10	0.54805	T	0.06	-22.5729	16.0212	0.80493	0.0:1.0:0.0:0.0	.	407;392;407	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	Y	407;392	ENSP00000328228:S407Y;ENSP00000370040:S392Y	ENSP00000328228:S407Y	S	+	2	0	CDCA2	25397498	0.981000	0.34729	1.000000	0.80357	0.992000	0.81027	2.656000	0.46716	2.861000	0.98227	0.650000	0.86243	TCT		0.428	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562	
PKHD1L1	93035	broad.mit.edu	37	8	110424605	110424605	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:110424605C>T	ENST00000378402.5	+	20	2301	c.2197C>T	c.(2197-2199)Cga>Tga	p.R733*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	733					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)			ACCAAACAGACGACCATATGG	0.368										HNSCC(38;0.096)																												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.(2197-2199)Cga>Tga		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.							104.0	93.0	96.0					8																	110424605		1831	4079	5910	SO:0001587	stop_gained	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110424605C>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.2197C>T	8.37:g.110424605C>T	ENSP00000367655:p.Arg733*	HNSCC(38;0.096)					p.R733*	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		19	2301	+			733					Q567P2|Q9UF27	Nonsense_Mutation	SNP	ENST00000378402.5	37	c.2197C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	37	6.169717	0.97343	.	.	ENSG00000205038	ENST00000378402	.	.	.	4.9	-2.24	0.06909	.	3.050000	0.01041	N	0.004300	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	3.8929	0.09127	0.3883:0.3588:0.0:0.2528	.	.	.	.	X	733	.	ENSP00000367655:R733X	R	+	1	2	PKHD1L1	110493781	0.397000	0.25270	0.220000	0.23810	0.741000	0.42261	-0.165000	0.09968	-0.308000	0.08792	-0.440000	0.05779	CGA		0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
DGAT1	8694	broad.mit.edu	37	8	145541816	145541818	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:145541816_145541818delCTT	ENST00000332324.4	-	8	964_966	c.691_693delAAG	c.(691-693)aagdel	p.K231del	DGAT1_ENST00000527438.1_5'Flank|DGAT1_ENST00000531896.1_In_Frame_Del_p.E261del	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	231					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CACTGCTGGCCTTCTTCCCTGCA	0.709																																						uc003zbv.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(691-693)aagdel		Homo sapiens diacylglycerol O-acyltransferase 1 (DGAT1), mRNA.																																				SO:0001651	inframe_deletion	8694				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr8:145541816_145541818delCTT	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.691_693delAAG	8.37:g.145541819_145541821delCTT	ENSP00000332258:p.Lys231del						p.K231del	NM_012079	NP_036211	O75907	DGAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		7	959_961	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		231					B2RWQ2|D3DWL6|Q96BB8	In_Frame_Del	DEL	ENST00000332324.4	37	c.691_693delAAG	CCDS6420.1																																																																																				0.709	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	NM_012079	
ZNF250	58500	broad.mit.edu	37	8	146108024	146108024	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:146108024T>C	ENST00000292579.7	-	6	675	c.559A>G	c.(559-561)Act>Gct	p.T187A	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.T182A	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TGGTGCGGAGTGAGTGGCATG	0.498																																					NSCLC(16;520 556 24096 40084 43446)	uc003zeq.4																			0				endometrium(4)|kidney(2)|lung(8)|skin(1)	15						c.(559-561)Act>Gct		Homo sapiens zinc finger protein 250 (ZNF250), transcript variant 1, mRNA.							158.0	142.0	147.0					8																	146108024		2203	4300	6503	SO:0001583	missense	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146108024T>C	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"""Zinc fingers, C2H2-type"", ""-"""	13044	protein-coding gene	gene with protein product			"""zinc finger protein 647"""	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.559A>G	8.37:g.146108024T>C	ENSP00000292579:p.Thr187Ala					COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.4_Missense_Mutation_p.T182A|ZNF250_uc010mgg.3_Missense_Mutation_p.T182A	p.T187A	NM_021061	NP_066405	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	5	676	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		187					D3DWP1|Q59HE9|Q8N942|Q96AH9	Missense_Mutation	SNP	ENST00000292579.7	37	c.559A>G	CCDS34972.1	.	.	.	.	.	.	.	.	.	.	T	8.364	0.833731	0.16820	.	.	ENSG00000196150	ENST00000292579;ENST00000417550;ENST00000394912	T;T	0.15256	2.44;2.44	3.48	-3.1	0.05315	.	1.106500	0.06962	N	0.816611	T	0.08846	0.0219	L	0.28504	0.86	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39461	-0.9613	10	0.15952	T	0.53	-1.0016	1.2095	0.01902	0.2603:0.3717:0.1321:0.2359	.	182;187	D3DWP1;P15622	.;ZN250_HUMAN	A	187;182;182	ENSP00000292579:T187A;ENSP00000393442:T182A	ENSP00000292579:T187A	T	-	1	0	ZNF250	146078828	0.000000	0.05858	0.000000	0.03702	0.368000	0.29767	-3.135000	0.00588	-0.639000	0.05502	0.260000	0.18958	ACT		0.498	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061	
MOB3B	79817	broad.mit.edu	37	9	27455216	27455216	+	Silent	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr9:27455216C>T	ENST00000262244.5	-	2	757	c.333G>A	c.(331-333)gcG>gcA	p.A111A		NM_024761.4	NP_079037.3	Q86TA1	MOB3B_HUMAN	MOB kinase activator 3B	111							metal ion binding (GO:0046872)										GAGCTGGCAGCGCTGTTGGCT	0.488																																						uc003zqn.3																			0											c.(331-333)gcG>gcA		Homo sapiens MOB kinase activator 3B (MOB3B), mRNA.							104.0	95.0	98.0					9																	27455216		2203	4300	6503	SO:0001819	synonymous_variant	79817						metal ion binding|protein binding	g.chr9:27455216C>T	AK023266	CCDS6520.1	9p21.1	2012-07-05	2011-09-28	2011-09-28	ENSG00000120162	ENSG00000120162		"""MOB kinase activators"""	23825	protein-coding gene	gene with protein product	"""monopolar spindle 1 binding, MOB1, domain containing"""		"""MOB1, Mps One Binder kinase activator-like 2B (yeast)"", ""chromosome 9 open reading frame 35"""	MOBKL2B, C9orf35		12477932	Standard	NM_024761		Approved	MOB1D, FLJ13204	uc003zqn.3	Q86TA1	OTTHUMG00000019717	ENST00000262244.5:c.333G>A	9.37:g.27455216C>T							p.A111A	NM_024761	NP_079037	Q86TA1	MOL2B_HUMAN			1	829	-			111					Q8NEB4|Q9H8V4	Silent	SNP	ENST00000262244.5	37	c.333G>A	CCDS6520.1																																																																																				0.488	MOB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051974.2	NM_024761	
FBP2	8789	broad.mit.edu	37	9	97329591	97329591	+	Silent	SNP	C	C	T	rs367608023		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr9:97329591C>T	ENST00000375337.3	-	5	732	c.666G>A	c.(664-666)gcG>gcA	p.A222A	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	222					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				CAGTGGTGGCCGCATCAAAAT	0.463																																						uc004auv.3																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(664-666)gcG>gcA		Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.		T		1,4405	2.1+/-5.4	0,1,2202	164.0	165.0	165.0		666	-6.3	0.8	9		165	0,8600		0,0,4300	no	coding-synonymous	FBP2	NM_003837.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		222/340	97329591	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8789				fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding	g.chr9:97329591C>T	Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.666G>A	9.37:g.97329591C>T						BC080653_uc004aus.1_Intron|BC080653_uc004aut.1_Intron	p.A222A	NM_003837	NP_003828	O00757	F16P2_HUMAN			4	733	-		Acute lymphoblastic leukemia(62;0.136)	222					Q17R39|Q6FI53	Silent	SNP	ENST00000375337.3	37	c.666G>A	CCDS6711.1																																																																																				0.463	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053189.1	NM_003837	
ARSE	415	broad.mit.edu	37	X	2873479	2873479	+	Silent	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:2873479C>T	ENST00000381134.3	-	4	351	c.285G>A	c.(283-285)acG>acA	p.T95T	ARSE_ENST00000540563.1_Silent_p.T50T|ARSE_ENST00000496095.1_5'Flank|ARSE_ENST00000545496.1_Silent_p.T120T	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	95					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTATCTGCCCGTGAGGAAGG	0.527																																						uc011mhh.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(358-360)acG>acA		Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.							106.0	69.0	82.0					X																	2873479		2203	4300	6503	SO:0001819	synonymous_variant	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2873479C>T	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.285G>A	X.37:g.2873479C>T						ARSE_uc011mhi.2_Silent_p.T41T|ARSE_uc004crc.4_Silent_p.T95T	p.T120T			P51690	ARSE_HUMAN			4	821	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	95					Q53FT2|Q53FU8	Silent	SNP	ENST00000381134.3	37	c.360G>A	CCDS14122.1																																																																																				0.527	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047	
TLR7	51284	broad.mit.edu	37	X	12903821	12903821	+	Missense_Mutation	SNP	C	C	T	rs200329031		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:12903821C>T	ENST00000380659.3	+	3	333	c.194C>T	c.(193-195)aCg>aTg	p.T65M		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	65					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	GGTATTCCCACGAACACCACG	0.488																																						uc004cvc.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(193-195)aCg>aTg		Homo sapiens toll-like receptor 7 (TLR7), mRNA.	Imiquimod(DB00724)						167.0	151.0	157.0					X																	12903821		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12903821C>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.194C>T	X.37:g.12903821C>T	ENSP00000370034:p.Thr65Met						p.T65M	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			2	333	+			65					D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.194C>T	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	4.284	0.051924	0.08291	.	.	ENSG00000196664	ENST00000380659	T	0.46819	0.86	5.61	4.72	0.59763	Leucine-rich repeat-containing N-terminal (1);	0.630019	0.16002	N	0.234265	T	0.43942	0.1270	M	0.67569	2.06	0.34768	D	0.733412	B	0.28512	0.214	B	0.17433	0.018	T	0.54050	-0.8351	10	0.33141	T	0.24	.	11.4355	0.50066	0.1305:0.7299:0.1396:0.0	.	65	Q9NYK1	TLR7_HUMAN	M	65	ENSP00000370034:T65M	ENSP00000370034:T65M	T	+	2	0	TLR7	12813742	0.086000	0.21541	0.128000	0.21923	0.015000	0.08874	0.999000	0.29757	2.359000	0.80004	0.500000	0.49745	ACG		0.488	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562	
DMD	1756	broad.mit.edu	37	X	32407637	32407637	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:32407637G>A	ENST00000357033.4	-	32	4705	c.4499C>T	c.(4498-4500)tCa>tTa	p.S1500L	DMD_ENST00000378677.2_Missense_Mutation_p.S1496L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1500	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATTTAGCTGTGACTGTACTAC	0.393																																						uc004dda.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(4498-4500)tCa>tTa		Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.							200.0	149.0	166.0					X																	32407637		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32407637G>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4499C>T	X.37:g.32407637G>A	ENSP00000354923:p.Ser1500Leu					DMD_uc004dcw.2_Missense_Mutation_p.S156L|DMD_uc004dcx.2_Missense_Mutation_p.S159L|DMD_uc004dcz.2_Missense_Mutation_p.S1377L|DMD_uc004dcy.1_Missense_Mutation_p.S1496L|DMD_uc004ddb.1_Missense_Mutation_p.S1492L|DMD_uc010ngo.1_Intron	p.S1500L	NM_004006	NP_004001	P11532	DMD_HUMAN			31	4743	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1500			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.4499C>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677921	0.88445	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.17213	2.29;2.29	5.58	5.58	0.84498	.	0.000000	0.29775	U	0.011235	T	0.18635	0.0447	L	0.42245	1.32	0.80722	D	1	P;B;P;P;P	0.46142	0.873;0.314;0.799;0.608;0.608	B;B;B;B;B	0.39660	0.306;0.083;0.162;0.115;0.115	T	0.01249	-1.1406	10	0.39692	T	0.17	.	18.5631	0.91108	0.0:0.0:1.0:0.0	.	1492;1500;1496;159;156	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	L	1492;159;156;1496;1500;1500;1377	ENSP00000367948:S1496L;ENSP00000354923:S1500L	ENSP00000354923:S1500L	S	-	2	0	DMD	32317558	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.374000	0.97172	2.327000	0.79052	0.594000	0.82650	TCA		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
P2RY10	27334	broad.mit.edu	37	X	78216970	78216970	+	Missense_Mutation	SNP	G	G	A	rs200750596		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:78216970G>A	ENST00000171757.2	+	4	1233	c.953G>A	c.(952-954)cGc>cAc	p.R318H	P2RY10_ENST00000544091.1_Missense_Mutation_p.R318H	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CAACTATCCCGCCATGGCAGT	0.438													G|||	1	0.000264901	0.0	0.0	3775	,	,		13316	0.001		0.0	False		,,,				2504	0.0					uc022bzl.1																			0		p.R318C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						c.(952-954)cGc>cAc		Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.							111.0	106.0	108.0					X																	78216970		2203	4300	6503	SO:0001583	missense	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216970G>A	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.953G>A	X.37:g.78216970G>A	ENSP00000171757:p.Arg318His					P2RY10_uc004ede.3_Missense_Mutation_p.R318H|P2RY10_uc004edf.3_Missense_Mutation_p.R318H	p.R318H	NM_198333	NP_938147	O00398	P2Y10_HUMAN			0	953	+			318					D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.953G>A	CCDS14442.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.29	1.310658	0.23821	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.40756	1.02;1.02	4.99	4.99	0.66335	.	1.640790	0.03461	N	0.212117	T	0.28599	0.0708	N	0.14661	0.345	0.19300	N	0.999977	P	0.37781	0.608	B	0.30716	0.119	T	0.17198	-1.0377	10	0.45353	T	0.12	.	9.6026	0.39615	0.0971:0.0:0.9029:0.0	.	318	O00398	P2Y10_HUMAN	H	318	ENSP00000443138:R318H;ENSP00000171757:R318H	ENSP00000171757:R318H	R	+	2	0	P2RY10	78103626	.	.	0.087000	0.20705	0.440000	0.31957	.	.	2.311000	0.77944	0.597000	0.82753	CGC		0.438	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1		
RPA4	29935	broad.mit.edu	37	X	96139918	96139918	+	Silent	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:96139918C>T	ENST00000373040.3	+	1	1012	c.609C>T	c.(607-609)gaC>gaT	p.D203D	DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373049.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	203					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						TCATCCAGGACGAAGTGCTGC	0.522								Other identified genes with known or suspected DNA repair function																														uc004efv.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						c.(607-609)gaC>gaT	Other identified genes with known or suspected DNA repair function	Homo sapiens replication protein A4, 30kDa (RPA4), mRNA.							159.0	120.0	133.0					X																	96139918		2203	4300	6503	SO:0001819	synonymous_variant	29935				DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	g.chrX:96139918C>T	U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.609C>T	X.37:g.96139918C>T						DIAPH2_uc004eft.4_Intron|DIAPH2_uc004efu.4_Intron|DIAPH2_uc004efs.2_Intron	p.D203D	NM_013347	NP_037479	Q13156	RFA4_HUMAN			0	1012	+			203					Q3SY03	Silent	SNP	ENST00000373040.3	37	c.609C>T	CCDS35345.1																																																																																				0.522	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347	
RAB9B	51209	broad.mit.edu	37	X	103080537	103080537	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:103080537T>C	ENST00000243298.2	-	3	462	c.178A>G	c.(178-180)Atc>Gtc	p.I60V		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	60					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						GTGTCCCAGATCTGGAGGGTT	0.507																																						uc004ell.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						c.(178-180)Atc>Gtc		Homo sapiens RAB9B, member RAS oncogene family (RAB9B), mRNA.							115.0	93.0	101.0					X																	103080537		2203	4300	6503	SO:0001583	missense	51209				Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding	g.chrX:103080537T>C	AB036693	CCDS14515.1	Xq22.1-q22.3	2010-04-19			ENSG00000123570	ENSG00000123570		"""RAB, member RAS oncogene"""	14090	protein-coding gene	gene with protein product		300285				11043518	Standard	NM_016370		Approved	RAB9L	uc004ell.2	Q9NP90	OTTHUMG00000022112	ENST00000243298.2:c.178A>G	X.37:g.103080537T>C	ENSP00000243298:p.Ile60Val					RAB9B_uc004eli.2_Intron|RAB9B_uc022cbx.1_Missense_Mutation_p.I60V	p.I60V	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN			2	517	-			60					B2R8M0|Q52LX2	Missense_Mutation	SNP	ENST00000243298.2	37	c.178A>G	CCDS14515.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.361298	0.61403	.	.	ENSG00000123570	ENST00000243298	T	0.79454	-1.27	5.95	5.95	0.96441	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85141	0.5629	M	0.64080	1.96	0.80722	D	1	D	0.63046	0.992	D	0.66847	0.947	D	0.85744	0.1339	10	0.52906	T	0.07	-2.9841	13.1314	0.59385	0.0:0.0:0.0:1.0	.	60	Q9NP90	RAB9B_HUMAN	V	60	ENSP00000243298:I60V	ENSP00000243298:I60V	I	-	1	0	RAB9B	102967193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.010000	0.58986	0.486000	0.48141	ATC		0.507	RAB9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057746.1		
KLHL13	90293	broad.mit.edu	37	X	117043525	117043525	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:117043525A>T	ENST00000262820.3	-	5	2014	c.1105T>A	c.(1105-1107)Tgg>Agg	p.W369R	KLHL13_ENST00000545703.1_Missense_Mutation_p.W327R|KLHL13_ENST00000371878.1_Missense_Mutation_p.W318R|KLHL13_ENST00000371876.1_Missense_Mutation_p.W318R|KLHL13_ENST00000541812.1_Missense_Mutation_p.W353R|KLHL13_ENST00000539496.1_Missense_Mutation_p.W372R|KLHL13_ENST00000371882.1_Missense_Mutation_p.W318R|KLHL13_ENST00000540167.1_Missense_Mutation_p.W353R|KLHL13_ENST00000469946.1_Missense_Mutation_p.W318R	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	369					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AACGATTTCCACTCATGGGCC	0.493																																						uc011mtp.2																			0		p.S371L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(1114-1116)Tgg>Agg		Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.							102.0	90.0	94.0					X																	117043525		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117043525A>T	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1105T>A	X.37:g.117043525A>T	ENSP00000262820:p.Trp369Arg					KLHL13_uc004eqk.3_Missense_Mutation_p.W318R|KLHL13_uc004eql.3_Missense_Mutation_p.W369R|KLHL13_uc011mtn.2_Missense_Mutation_p.W209R|KLHL13_uc011mto.2_Missense_Mutation_p.W363R|KLHL13_uc011mtq.2_Missense_Mutation_p.W353R|KLHL13_uc004eqm.3_Missense_Mutation_p.W327R|KLHL13_uc022cde.1_Missense_Mutation_p.W353R	p.W372R	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN			5	1247	-			369					B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.1114T>A	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	A	17.58	3.425516	0.62733	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	5.02	3.84	0.44239	Galactose oxidase, beta-propeller (1);	0.060240	0.64402	D	0.000001	D	0.88771	0.6527	M	0.89904	3.07	0.58432	D	0.99999	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.991;0.999;0.999	D	0.88899	0.3351	10	0.87932	D	0	.	10.3406	0.43875	0.8507:0.0:0.0:0.1493	.	353;372;363;369	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	R	318;318;318;318;353;353;372;369;327;318	ENSP00000360949:W318R;ENSP00000360943:W318R;ENSP00000360945:W318R;ENSP00000412640:W318R;ENSP00000444450:W353R;ENSP00000441029:W353R;ENSP00000443191:W372R;ENSP00000262820:W369R;ENSP00000440707:W327R;ENSP00000419803:W318R	ENSP00000262820:W369R	W	-	1	0	KLHL13	116927553	1.000000	0.71417	0.810000	0.32431	0.994000	0.84299	9.139000	0.94554	0.699000	0.31761	0.481000	0.45027	TGG		0.493	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495	
MAGEA8	4107	broad.mit.edu	37	X	149013837	149013837	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:149013837C>T	ENST00000542674.1	+	3	1312	c.791C>T	c.(790-792)gCg>gTg	p.A264V	MAGEA8_ENST00000286482.1_Missense_Mutation_p.A264V|MAGEA8_ENST00000535454.1_Missense_Mutation_p.A264V	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	264	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TACCGCCAGGCGCCCGGCAGT	0.577																																						uc022cgq.1																			0		p.A264A(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20						c.(790-792)gCg>gTg		Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA.							108.0	103.0	104.0					X																	149013837		2203	4298	6501	SO:0001583	missense	4107							g.chrX:149013837C>T		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.791C>T	X.37:g.149013837C>T	ENSP00000443776:p.Ala264Val					MAGEA8_uc022cgo.1_Missense_Mutation_p.A264V|MAGEA8_uc004fdw.2_Missense_Mutation_p.A264V|MAGEA8_uc022cgp.1_Missense_Mutation_p.A264V	p.A264V	NM_005364	NP_005355	P43361	MAGA8_HUMAN			0	791	+	Acute lymphoblastic leukemia(192;6.56e-05)		264			MAGE.		Q9BUN9	Missense_Mutation	SNP	ENST00000542674.1	37	c.791C>T	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.085359	0.00371	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.03889	3.77;3.77;3.77	1.0	-2.01	0.07410	.	0.398443	0.27526	N	0.018972	T	0.00552	0.0018	N	0.00017	-2.845	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.37197	-0.9716	10	0.02654	T	1	.	4.681	0.12734	0.0:0.2457:0.0:0.7543	.	264	P43361	MAGA8_HUMAN	V	264	ENSP00000438293:A264V;ENSP00000443776:A264V;ENSP00000286482:A264V	ENSP00000286482:A264V	A	+	2	0	MAGEA8	148774495	0.001000	0.12720	0.097000	0.21041	0.261000	0.26267	-0.038000	0.12144	-1.079000	0.03113	-2.572000	0.00171	GCG		0.577	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364	
PNCK	139728	broad.mit.edu	37	X	152937465	152937465	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:152937465C>T	ENST00000370150.1	-	5	462	c.284G>A	c.(283-285)gGt>gAt	p.G95D	PNCK_ENST00000340888.3_Missense_Mutation_p.G95D|PNCK_ENST00000370142.1_Missense_Mutation_p.G95D|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000447676.2_Missense_Mutation_p.G178D|PNCK_ENST00000393831.2_Missense_Mutation_p.G95D|PNCK_ENST00000370145.4_Missense_Mutation_p.G112D			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	95	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTCGCCACCCGTCACCCT	0.662																																						uc011myu.2																			0				breast(2)|lung(3)|skin(1)	6						c.(532-534)gGt>gAt		Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.							39.0	35.0	36.0					X																	152937465		2203	4299	6502	SO:0001583	missense	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152937465C>T	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.284G>A	X.37:g.152937465C>T	ENSP00000359169:p.Gly95Asp					PNCK_uc011myt.2_Missense_Mutation_p.G112D|PNCK_uc004fhz.4_5'UTR|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.2_Missense_Mutation_p.G122D|PNCK_uc011myw.2_Missense_Mutation_p.G122D	p.G178D	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN			4	719	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		95			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37	c.533G>A		.	.	.	.	.	.	.	.	.	.	c	24.5	4.535748	0.85812	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676;ENST00000439087;ENST00000422811	T;T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.01	5.01	0.66863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000028	T	0.66694	0.2815	M	0.88775	2.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74996	-0.3473	10	0.87932	D	0	-21.7197	16.1385	0.81506	0.0:1.0:0.0:0.0	.	122;178;112;95	B4DJG4;Q6P2M8-5;B4E1A6;Q6P2M8	.;.;.;KCC1B_HUMAN	D	95;95;95;95;112;178;95;95	ENSP00000340586:G95D;ENSP00000359169:G95D;ENSP00000377417:G95D;ENSP00000359161:G95D;ENSP00000359164:G112D;ENSP00000405950:G178D;ENSP00000415770:G95D;ENSP00000391772:G95D	ENSP00000340586:G95D	G	-	2	0	PNCK	152590659	1.000000	0.71417	0.061000	0.19648	0.910000	0.53928	7.657000	0.83745	2.060000	0.61445	0.529000	0.55759	GGT		0.662	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452	
RAB39B	116442	broad.mit.edu	37	X	154490194	154490194	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:154490194T>C	ENST00000369454.3	-	2	836	c.536A>G	c.(535-537)gAg>gGg	p.E179G		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	179					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GATTGTAATCTCCCCCCTTTT	0.463																																						uc004fne.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19						c.(535-537)gAg>gGg		Homo sapiens RAB39B, member RAS oncogene family (RAB39B), mRNA.							112.0	94.0	100.0					X																	154490194		2203	4300	6503	SO:0001583	missense	116442				protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	g.chrX:154490194T>C	AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"""RAB, member RAS oncogene"""	16499	protein-coding gene	gene with protein product		300774	"""mental retardation, X-linked 72"""	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.536A>G	X.37:g.154490194T>C	ENSP00000358466:p.Glu179Gly						p.E179G	NM_171998	NP_741995	Q96DA2	RB39B_HUMAN			1	815	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		179					Q5JT79|Q8NEX3	Missense_Mutation	SNP	ENST00000369454.3	37	c.536A>G	CCDS14766.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.128200	0.37533	.	.	ENSG00000155961	ENST00000369454	T	0.80566	-1.39	5.17	5.17	0.71159	.	0.114053	0.64402	D	0.000016	T	0.65883	0.2734	N	0.19112	0.55	0.58432	D	0.999997	B	0.31383	0.321	B	0.26770	0.073	T	0.64063	-0.6495	10	0.27082	T	0.32	.	12.0756	0.53641	0.0:0.0:0.0:1.0	.	179	Q96DA2	RB39B_HUMAN	G	179	ENSP00000358466:E179G	ENSP00000358466:E179G	E	-	2	0	RAB39B	154143388	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.629000	0.83207	1.824000	0.53156	0.417000	0.27973	GAG		0.463	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998	
