#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PIK3CD	5293	broad.mit.edu	37	1	9784117	9784117	+	Silent	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:9784117C>T	ENST00000377346.4	+	21	2880	c.2685C>T	c.(2683-2685)caC>caT	p.H895H	PIK3CD_ENST00000536656.1_Silent_p.H919H|PIK3CD_ENST00000361110.2_Silent_p.H919H	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	895	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GCGATCGGCACAGCGACAACA	0.632																																						uc001aqb.3		NA																	0				lung(4)|skin(2)|central_nervous_system(1)	7						c.(2683-2685)CAC>CAT		catalytic phosphatidylinositol 3-kinase delta							182.0	167.0	172.0					1																	9784117		2203	4300	6503	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9784117C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2685C>T	1.37:g.9784117C>T						PIK3CD_uc010oaf.1_Silent_p.H894H|PIK3CD_uc001aqe.3_Silent_p.H919H	p.H895H	NM_005026	NP_005017	O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	21	2893	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	895			PI3K/PI4K.		A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.2685C>T	CCDS104.1																																																																																				0.632	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		57	54	0	0	0	0	57	54				
HFM1	164045	broad.mit.edu	37	1	91727880	91727880	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:91727880C>T	ENST00000370425.3	-	38	4254	c.4156G>A	c.(4156-4158)Gaa>Aaa	p.E1386K	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_3'UTR|Y_RNA_ENST00000384090.1_RNA|HFM1_ENST00000370424.3_Missense_Mutation_p.E1065K	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1386					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GGGTTTTTTTCAGAGAAAGTA	0.284																																						uc001doa.3		NA																	0					0						c.(4156-4158)GAA>AAA		HFM1 protein							59.0	60.0	59.0					1																	91727880		1930	4157	6087	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91727880C>T	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.4156G>A	1.37:g.91727880C>T	ENSP00000359454:p.Glu1386Lys					HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.E1065K|HFM1_uc001dob.3_Missense_Mutation_p.E574K	p.E1386K	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	38	4256	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1386					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.4156G>A	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.500238	0.01001	.	.	ENSG00000162669	ENST00000370425;ENST00000370424	T;T	0.60920	0.45;0.15	4.85	-7.54	0.01332	.	2.274370	0.01585	N	0.021265	T	0.08492	0.0211	N	0.05124	-0.11	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.07139	-1.0788	10	0.14252	T	0.57	.	1.3883	0.02245	0.2815:0.203:0.0931:0.4224	.	597;1386	B1B0B5;A2PYH4	.;HFM1_HUMAN	K	1386;1065	ENSP00000359454:E1386K;ENSP00000359453:E1065K	ENSP00000359453:E1065K	E	-	1	0	HFM1	91500468	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.616000	0.05591	-1.448000	0.01941	-0.259000	0.10710	GAA		0.284	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		10	58	0	0	0	0	10	58				
HFM1	164045	broad.mit.edu	37	1	91728133	91728133	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:91728133C>G	ENST00000370425.3	-	37	4089	c.3991G>C	c.(3991-3993)Gag>Cag	p.E1331Q	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.M532I|Y_RNA_ENST00000384090.1_RNA|HFM1_ENST00000370424.3_Missense_Mutation_p.E1010Q	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1331					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCCGACATCTCATGTGATGAA	0.308																																						uc001doa.3		NA																	0					0						c.(3991-3993)GAG>CAG		HFM1 protein							70.0	68.0	69.0					1																	91728133		2203	4300	6503	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91728133C>G	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3991G>C	1.37:g.91728133C>G	ENSP00000359454:p.Glu1331Gln					HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.E1010Q|HFM1_uc001dob.3_Missense_Mutation_p.E519Q	p.E1331Q	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	37	4091	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1331					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.3991G>C	CCDS30769.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.923|8.923	0.961487|0.961487	0.18583|0.18583	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000370425;ENST00000370424|ENST00000294696;ENST00000430465	T;T|T	0.69306|0.50277	0.05;-0.39|0.75	5.01|5.01	2.06|2.06	0.26882|0.26882	.|.	0.984113|.	0.08287|.	N|.	0.969055|.	T|T	0.12689|0.12689	0.0308|0.0308	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	0.999998|0.999998	B;P|.	0.37864|.	0.019;0.61|.	B;B|.	0.31812|.	0.01;0.136|.	T|T	0.31558|0.31558	-0.9939|-0.9939	10|7	0.40728|0.19147	T|T	0.16|0.46	.|.	4.907|4.907	0.13804|0.13804	0.0:0.6349:0.1749:0.1901|0.0:0.6349:0.1749:0.1901	.|.	542;1331|.	B1B0B5;A2PYH4|.	.;HFM1_HUMAN|.	Q|I	1331;1010|532;542	ENSP00000359454:E1331Q;ENSP00000359453:E1010Q|ENSP00000294696:M532I	ENSP00000359453:E1010Q|ENSP00000294696:M532I	E|M	-|-	1|3	0|0	HFM1|HFM1	91500721|91500721	0.010000|0.010000	0.17322|0.17322	0.348000|0.348000	0.25681|0.25681	0.743000|0.743000	0.42351|0.42351	0.666000|0.666000	0.25097|0.25097	0.273000|0.273000	0.22049|0.22049	-0.233000|-0.233000	0.12211|0.12211	GAG|ATG		0.308	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		8	59	0	0	0	0	8	59				
FAM102B	284611	broad.mit.edu	37	1	109167328	109167328	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:109167328A>G	ENST00000370035.3	+	6	854	c.514A>G	c.(514-516)Aga>Gga	p.R172G	FAM102B_ENST00000405454.1_Missense_Mutation_p.R172G	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	172										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		GCAAGAAGATAGAAAAGGTGG	0.423																																						uc010ouy.1		NA																	0				large_intestine(1)	1						c.(514-516)AGA>GGA		hypothetical protein LOC284611							167.0	170.0	169.0					1																	109167328		2203	4300	6503	SO:0001583	missense	284611							g.chr1:109167328A>G	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"""sym-3 homolog B (C. elegans)"""						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.514A>G	1.37:g.109167328A>G	ENSP00000359052:p.Arg172Gly						p.R172G	NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)	6	594	+		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	172					A1L1A1|B0QZ46|B0QZ47|Q68DH7	Missense_Mutation	SNP	ENST00000370035.3	37	c.514A>G	CCDS30786.2	.	.	.	.	.	.	.	.	.	.	A	12.51	1.959838	0.34565	.	.	ENSG00000162636	ENST00000370035;ENST00000405454;ENST00000437902	.	.	.	5.49	4.3	0.51218	.	0.048705	0.85682	D	0.000000	T	0.39809	0.1092	M	0.65975	2.015	0.53688	D	0.999978	P	0.37688	0.605	B	0.35510	0.204	T	0.38200	-0.9672	9	0.23302	T	0.38	-20.5649	13.7968	0.63175	0.8639:0.1361:0.0:0.0	.	172	Q5T8I3	F102B_HUMAN	G	172	.	ENSP00000359052:R172G	R	+	1	2	FAM102B	108968851	0.997000	0.39634	0.999000	0.59377	0.996000	0.88848	3.671000	0.54576	2.090000	0.63153	0.533000	0.62120	AGA		0.423	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3	NM_001010883		26	39	0	0	0	0	26	39				
MEX3A	92312	broad.mit.edu	37	1	156046882	156046882	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:156046882G>A	ENST00000532414.2	-	2	1045	c.1046C>T	c.(1045-1047)tCt>tTt	p.S349F	MEX3A_ENST00000442784.1_5'UTR|AL355388.1_ENST00000410679.1_RNA	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	349						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CTCAAAGCCAGAGTCCACTCC	0.672																																						uc001fnd.3		NA																	0					0						c.(1045-1047)TCT>TTT		MEX3A protein							44.0	52.0	50.0					1																	156046882		2020	4172	6192	SO:0001583	missense	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156046882G>A	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.1046C>T	1.37:g.156046882G>A	ENSP00000432845:p.Ser349Phe						p.S349F	NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN			2	1046	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		349						Missense_Mutation	SNP	ENST00000532414.2	37	c.1046C>T	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827116	0.32329	.	.	ENSG00000254726	ENST00000532414	T	0.57107	0.42	5.02	4.11	0.48088	.	0.256212	0.33382	N	0.004973	T	0.22820	0.0551	N	0.24115	0.695	0.35571	D	0.805492	B	0.12630	0.006	B	0.08055	0.003	T	0.12319	-1.0552	10	0.62326	D	0.03	.	12.286	0.54793	0.0829:0.0:0.9171:0.0	.	349	A1L020	MEX3A_HUMAN	F	349	ENSP00000432845:S349F	ENSP00000432845:S349F	S	-	2	0	MEX3A	154313506	1.000000	0.71417	0.508000	0.27688	0.643000	0.38383	5.464000	0.66719	1.353000	0.45828	-0.404000	0.06349	TCT		0.672	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		6	84	0	0	0	0	6	84				
FCGR2B	2213	broad.mit.edu	37	1	161642856	161642856	+	Silent	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:161642856C>G	ENST00000358671.5	+	4	564	c.483C>G	c.(481-483)gtC>gtG	p.V161V	FCGR2B_ENST00000236937.9_Silent_p.V161V|FCGR2B_ENST00000367962.4_Silent_p.V161V|FCGR2B_ENST00000428605.2_Silent_p.V161V|FCGR2B_ENST00000367960.5_Silent_p.V154V|FCGR2B_ENST00000403078.3_Silent_p.V161V|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367961.4_Silent_p.V154V	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	161	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCCTCTGGTCAAGGTCACAT	0.522			T	?	ALL																																	uc001gaz.1		NA		Dom	yes		1	1q23	2213	T	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""			L	?		ALL		0					0						c.(481-483)GTC>GTG		Fc fragment of IgG, low affinity IIb, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						15.0	18.0	17.0					1																	161642856		2150	4252	6402	SO:0001819	synonymous_variant	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161642856C>G	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.483C>G	1.37:g.161642856C>G						FCGR2B_uc009wum.1_Silent_p.V161V|FCGR2B_uc001gay.1_Silent_p.V160V|FCGR2B_uc001gba.1_Silent_p.V160V|FCGR2B_uc001gbb.1_Silent_p.V161V|FCGR2B_uc009wun.1_Silent_p.V154V	p.V161V	NM_004001	NP_003992	P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	575	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		161			Ig-like C2-type 2.|Extracellular (Potential).		A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Silent	SNP	ENST00000358671.5	37	c.483C>G	CCDS30924.1																																																																																				0.522	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001		7	22	0	0	0	0	7	22				
ASPM	259266	broad.mit.edu	37	1	197091047	197091047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:197091047G>A	ENST00000367409.4	-	16	4124	c.3868C>T	c.(3868-3870)Cag>Tag	p.Q1290*	ASPM_ENST00000294732.7_Nonsense_Mutation_p.Q1290*|ASPM_ENST00000367408.1_Nonsense_Mutation_p.Q540*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1290					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGGAGTACCTGATGGCGTTTG	0.318																																						uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(3868-3870)CAG>TAG		asp (abnormal spindle)-like, microcephaly							112.0	114.0	113.0					1																	197091047		2203	4299	6502	SO:0001587	stop_gained	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197091047G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3868C>T	1.37:g.197091047G>A	ENSP00000356379:p.Gln1290*					ASPM_uc001gtv.2_Nonsense_Mutation_p.Q1290*|ASPM_uc001gtw.3_Intron	p.Q1290*	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			16	4125	-			1290					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Nonsense_Mutation	SNP	ENST00000367409.4	37	c.3868C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	44	10.982539	0.99499	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	.	.	.	5.84	3.91	0.45181	.	0.100619	0.44483	D	0.000452	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	10.8041	0.46507	0.0:0.1271:0.6131:0.2598	.	.	.	.	X	1290;1290;540	.	ENSP00000294732:Q1290X	Q	-	1	0	ASPM	195357670	0.946000	0.32159	0.891000	0.34965	0.982000	0.71751	1.503000	0.35715	0.760000	0.33108	0.655000	0.94253	CAG		0.318	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		4	61	0	0	0	0	4	61				
FMN2	56776	broad.mit.edu	37	1	240256692	240256692	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:240256692C>T	ENST00000319653.9	+	1	1513	c.1283C>T	c.(1282-1284)tCg>tTg	p.S428L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	428					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGCTCAGCTCGCCCAATCAC	0.667																																						uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1282-1284)TCG>TTG		formin 2							51.0	59.0	56.0					1																	240256692		2202	4300	6502	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240256692C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1283C>T	1.37:g.240256692C>T	ENSP00000318884:p.Ser428Leu					FMN2_uc010pye.1_Missense_Mutation_p.S428L	p.S428L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	1508	+	Ovarian(103;0.127)	all_cancers(173;0.013)	428					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.1283C>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954627	0.53293	.	.	ENSG00000155816	ENST00000319653	D	0.83250	-1.7	4.9	3.98	0.46160	.	0.000000	0.56097	D	0.000037	T	0.71533	0.3351	L	0.36672	1.1	0.80722	D	1	P	0.39940	0.696	B	0.26969	0.075	T	0.73994	-0.3807	10	0.87932	D	0	.	12.9463	0.58373	0.0:0.9209:0.0:0.0791	.	428	Q9NZ56	FMN2_HUMAN	L	428	ENSP00000318884:S428L	ENSP00000318884:S428L	S	+	2	0	FMN2	238323315	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	5.333000	0.65917	1.042000	0.40150	0.462000	0.41574	TCG		0.667	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		6	64	0	0	0	0	6	64				
EXO1	9156	broad.mit.edu	37	1	242016725	242016725	+	Missense_Mutation	SNP	G	G	C	rs371763760		TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:242016725G>C	ENST00000366548.3	+	6	940	c.347G>C	c.(346-348)cGa>cCa	p.R116P	EXO1_ENST00000518483.1_Missense_Mutation_p.R116P|EXO1_ENST00000348581.5_Missense_Mutation_p.R116P|EXO1_ENST00000493702.1_3'UTR	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	116					DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TCGGAAGCTCGAGAGTGTTTC	0.423								Editing and processing nucleases																														uc001hzh.2		NA																	0				ovary(2)|lung(2)|skin(1)	5						c.(346-348)CGA>CCA	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							95.0	98.0	97.0					1																	242016725		2203	4300	6503	SO:0001583	missense	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242016725G>C	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.347G>C	1.37:g.242016725G>C	ENSP00000355506:p.Arg116Pro					EXO1_uc001hzi.2_Missense_Mutation_p.R116P|EXO1_uc001hzj.2_Missense_Mutation_p.R116P|EXO1_uc009xgq.2_Missense_Mutation_p.R116P	p.R116P	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		6	887	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	116					O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	c.347G>C	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099019	0.56183	.	.	ENSG00000174371	ENST00000366548;ENST00000423131;ENST00000523590;ENST00000348581;ENST00000366547;ENST00000518483;ENST00000437497;ENST00000450748	T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.69396	0.3106	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72982	0.971;0.979;0.971	T	0.70967	-0.4728	10	0.48119	T	0.1	-5.5782	13.6798	0.62476	0.0755:0.0:0.9245:0.0	.	116;116;116	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	P	116;76;76;116;76;116;76;116	ENSP00000355506:R116P;ENSP00000415531:R76P;ENSP00000430082:R76P;ENSP00000311873:R116P;ENSP00000430251:R116P;ENSP00000412041:R76P;ENSP00000406652:R116P	ENSP00000311873:R116P	R	+	2	0	EXO1	240083348	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	6.333000	0.72939	2.744000	0.94065	0.655000	0.94253	CGA		0.423	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		12	85	0	0	0	0	12	85				
C1orf101	257044	broad.mit.edu	37	1	244641251	244641251	+	Missense_Mutation	SNP	G	G	A	rs200697066	byFrequency	TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr1:244641251G>A	ENST00000366534.4	+	4	286	c.232G>A	c.(232-234)Gct>Act	p.A78T	C1orf101_ENST00000366533.4_Missense_Mutation_p.A78T|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_5'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	78						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TGGTGTTCACGCTATAAAACC	0.318													G|||	21	0.00419329	0.0	0.0	5008	,	,		14351	0.0		0.001	False		,,,				2504	0.0204					uc001iam.2		NA																	0				ovary(1)|breast(1)	2						c.(232-234)GCT>ACT		hypothetical protein LOC257044 isoform 1		G	THR/ALA,,THR/ALA	0,4406		0,0,2203	129.0	121.0	124.0		232,,232	-8.7	0.0	1		124	2,8598	2.2+/-6.3	0,2,4298	yes	missense,utr-5,missense	C1orf101	NM_001130957.1,NM_001242340.1,NM_173807.4	58,,58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,,benign	78/952,,78/833	244641251	2,13004	2203	4300	6503	SO:0001583	missense	257044					integral to membrane		g.chr1:244641251G>A	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.232G>A	1.37:g.244641251G>A	ENSP00000355492:p.Ala78Thr					C1orf101_uc001iak.1_5'UTR|C1orf101_uc001ial.2_Missense_Mutation_p.A78T|C1orf101_uc010pym.1_5'UTR|C1orf101_uc010pyn.1_Missense_Mutation_p.A81T	p.A78T	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		4	291	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		78			Extracellular (Potential).		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	c.232G>A	CCDS44340.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	0.123	-1.123052	0.01770	0.0	2.33E-4	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042	T;T;T	0.28666	1.6;1.6;1.61	4.33	-8.66	0.00866	.	5.029110	0.00424	N	0.000077	T	0.14442	0.0349	N	0.19112	0.55	0.19945	N	0.999945	B;B;B	0.16396	0.017;0.017;0.017	B;B;B	0.10450	0.005;0.005;0.005	T	0.32745	-0.9895	10	0.02654	T	1	.	7.8305	0.29340	0.4453:0.3688:0.1859:0.0	.	68;78;78	B1AQM6;Q5SY80;Q5SY80-2	.;CA101_HUMAN;.	T	78;78;78;68	ENSP00000355492:A78T;ENSP00000355491:A78T;ENSP00000395796:A68T	ENSP00000355491:A78T	A	+	1	0	C1orf101	242707874	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.208000	0.03005	-2.703000	0.00397	-0.282000	0.10007	GCT		0.318	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		6	84	0	0	0	0	6	84				
DIP2C	22982	broad.mit.edu	37	10	445090	445090	+	Missense_Mutation	SNP	C	C	T	rs368102774		TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:445090C>T	ENST00000280886.6	-	10	1306	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	DIP2C_ENST00000381496.3_Missense_Mutation_p.E300K	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	407						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGGACCACCTCGGCCAGCAGG	0.617																																						uc001ifp.2		NA																	0				breast(4)|ovary(2)|large_intestine(1)	7						c.(1219-1221)GAG>AAG		DIP2 disco-interacting protein 2 homolog C		C	LYS/GLU	0,4406		0,0,2203	71.0	63.0	65.0		1219	5.6	0.8	10		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	DIP2C	NM_014974.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	407/1557	445090	1,13005	2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:445090C>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.1219G>A	10.37:g.445090C>T	ENSP00000280886:p.Glu407Lys					DIP2C_uc009xhj.1_Missense_Mutation_p.E103K	p.E407K	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	10	1309	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	407					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.1219G>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.970323	0.74246	0.0	1.16E-4	ENSG00000151240	ENST00000280886;ENST00000381496	T;T	0.10477	2.87;2.87	5.58	5.58	0.84498	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.36580	0.0972	M	0.79123	2.44	0.54753	D	0.999989	D;P	0.76494	0.999;0.897	D;P	0.70487	0.969;0.523	T	0.08700	-1.0709	10	0.72032	D	0.01	-29.1106	19.1746	0.93599	0.0:1.0:0.0:0.0	.	300;407	E7EPU2;Q9Y2E4	.;DIP2C_HUMAN	K	407;300	ENSP00000280886:E407K;ENSP00000370907:E300K	ENSP00000280886:E407K	E	-	1	0	DIP2C	435090	1.000000	0.71417	0.750000	0.31169	0.139000	0.21198	5.791000	0.69045	2.623000	0.88846	0.558000	0.71614	GAG		0.617	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		5	33	0	0	0	0	5	33				
ITGA8	8516	broad.mit.edu	37	10	15649678	15649678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:15649678G>A	ENST00000378076.3	-	17	2115	c.1762C>T	c.(1762-1764)Cga>Tga	p.R588*		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	588					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.R588*(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATACTTACTCGAAGGTAAACG	0.448																																						uc001ioc.1		NA																	1	Substitution - Nonsense(1)		large_intestine(1)	ovary(3)|lung(3)	6						c.(1762-1764)CGA>TGA		integrin, alpha 8 precursor							226.0	240.0	235.0					10																	15649678		2203	4300	6503	SO:0001587	stop_gained	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15649678G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1762C>T	10.37:g.15649678G>A	ENSP00000367316:p.Arg588*					ITGA8_uc010qcb.1_Nonsense_Mutation_p.R573*	p.R588*	NM_003638	NP_003629	P53708	ITA8_HUMAN			17	1762	-			588			Extracellular (Potential).		B0YJ31|Q5VX94	Nonsense_Mutation	SNP	ENST00000378076.3	37	c.1762C>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	42	9.660019	0.99231	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	.	.	.	5.84	3.87	0.44632	.	0.048423	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8008	0.57584	0.0:0.0:0.493:0.507	.	.	.	.	X	588;573	.	ENSP00000367316:R588X	R	-	1	2	ITGA8	15689684	1.000000	0.71417	0.999000	0.59377	0.830000	0.47004	2.549000	0.45803	1.459000	0.47892	0.591000	0.81541	CGA		0.448	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		24	222	0	0	0	0	24	222				
CUBN	8029	broad.mit.edu	37	10	16882891	16882891	+	Silent	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:16882891G>A	ENST00000377833.4	-	61	9884	c.9819C>T	c.(9817-9819)atC>atT	p.I3273I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3273	CUB 24. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CACTGTCCATGATGGTGTATG	0.343																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(9817-9819)ATC>ATT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						113.0	100.0	104.0					10																	16882891		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16882891G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9819C>T	10.37:g.16882891G>A							p.I3273I	NM_001081	NP_001072	O60494	CUBN_HUMAN			61	9871	-			3273			CUB 24.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.9819C>T	CCDS7113.1																																																																																				0.343	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		8	41	0	0	0	0	8	41				
ZNF485	220992	broad.mit.edu	37	10	44112550	44112550	+	Silent	SNP	G	G	A	rs141606024	byFrequency	TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:44112550G>A	ENST00000361807.3	+	5	1253	c.1059G>A	c.(1057-1059)ccG>ccA	p.P353P	ZNF485_ENST00000374437.2_Silent_p.P262P|ZNF485_ENST00000374435.3_Silent_p.P353P	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GAAATAAACCGTATCAGTGTC	0.418													G|||	3	0.000599042	0.0	0.0029	5008	,	,		21085	0.0		0.001	False		,,,				2504	0.0					uc010qfc.1		NA																	0					0						c.(1057-1059)CCG>CCA		zinc finger protein 485		G		2,4404	4.2+/-10.8	0,2,2201	117.0	107.0	111.0		1059	0.9	0.0	10	dbSNP_134	111	10,8590	7.1+/-27.0	0,10,4290	no	coding-synonymous	ZNF485	NM_145312.3		0,12,6491	AA,AG,GG		0.1163,0.0454,0.0923		353/442	44112550	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44112550G>A	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.1059G>A	10.37:g.44112550G>A						ZNF485_uc010qfd.1_Silent_p.P262P	p.P353P	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN			5	1253	+			353					B4DSE6|Q96CL0	Silent	SNP	ENST00000361807.3	37	c.1059G>A	CCDS7205.2																																																																																				0.418	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		4	80	0	0	0	0	4	80				
CXCL12	6387	broad.mit.edu	37	10	44876302	44876302	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:44876302A>G	ENST00000374429.2	-	2	174	c.88T>C	c.(88-90)Tgc>Cgc	p.C30R	CXCL12_ENST00000395794.2_Missense_Mutation_p.C30R|CXCL12_ENST00000496375.1_5'UTR|AL137026.1_ENST00000593376.1_Intron|CXCL12_ENST00000374426.2_Missense_Mutation_p.C30R|CXCL12_ENST00000343575.6_Missense_Mutation_p.C30R|CXCL12_ENST00000395793.3_Missense_Mutation_p.C30R|CXCL12_ENST00000395795.4_Missense_Mutation_p.C30R	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	30	Receptor and heparin binding. {ECO:0000305}.				adult locomotory behavior (GO:0008344)|ameboidal cell migration (GO:0001667)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|motor neuron axon guidance (GO:0008045)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|patterning of blood vessels (GO:0001569)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of T cell migration (GO:2000406)|regulation of actin polymerization or depolymerization (GO:0008064)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|telencephalon cell migration (GO:0022029)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|CXCR chemokine receptor binding (GO:0045236)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Tinzaparin(DB06822)	CGGCATGGGCATCTGTAGCTC	0.493																																						uc001jbf.2		NA																	0					0						c.(88-90)TGC>CGC		chemokine (C-X-C motif) ligand 12 (stromal	Dexamethasone(DB01234)						219.0	204.0	209.0					10																	44876302		2203	4300	6503	SO:0001583	missense	6387				blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity	g.chr10:44876302A>G	L36033	CCDS7207.1, CCDS31186.1, CCDS44373.1, CCDS53527.1, CCDS60518.1	10q11.1	2013-02-28	2010-05-11	2002-08-23	ENSG00000107562	ENSG00000107562		"""Endogenous ligands"""	10672	protein-coding gene	gene with protein product		600835	"""stromal cell-derived factor 1"""	SDF1A, SDF1B, SDF1		7490086	Standard	NM_001033886		Approved	SCYB12, SDF-1a, SDF-1b, PBSF, TLSF-a, TLSF-b, TPAR1	uc021ppm.1	P48061	OTTHUMG00000018054	ENST00000374429.2:c.88T>C	10.37:g.44876302A>G	ENSP00000363551:p.Cys30Arg					CXCL12_uc001jbh.2_Missense_Mutation_p.C30R|CXCL12_uc001jbi.2_Missense_Mutation_p.C30R	p.C30R	NM_000609	NP_000600	P48061	SDF1_HUMAN			2	177	-			30					B2R4G0|E7EVL0|H7BYN8|Q2L985|Q2L986|Q2L988|Q5IT36|Q6ICW0|Q9H554	Missense_Mutation	SNP	ENST00000374429.2	37	c.88T>C	CCDS44373.1	.	.	.	.	.	.	.	.	.	.	a	20.5	3.995212	0.74703	.	.	ENSG00000107562	ENST00000395795;ENST00000374429;ENST00000395793;ENST00000374426;ENST00000343575;ENST00000395794	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.47	5.47	0.80525	Chemokine interleukin-8-like domain (3);	0.000000	0.85682	D	0.000000	T	0.68595	0.3018	.	.	.	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.81914	0.991;0.995	T	0.73180	-0.4064	9	0.87932	D	0	-15.9371	13.52	0.61561	1.0:0.0:0.0:0.0	.	30;30	P48061-3;P48061	.;SDF1_HUMAN	R	30	ENSP00000379141:C30R;ENSP00000363551:C30R;ENSP00000363548:C30R;ENSP00000339913:C30R;ENSP00000379140:C30R	ENSP00000339913:C30R	C	-	1	0	CXCL12	44196308	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.957000	0.76019	2.087000	0.62958	0.524000	0.50904	TGC		0.493	CXCL12-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047738.2	NM_000609		18	136	0	0	0	0	18	136				
ERCC6	2074	broad.mit.edu	37	10	50732560	50732560	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:50732560C>A	ENST00000355832.5	-	5	994	c.916G>T	c.(916-918)Gcc>Tcc	p.A306S	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.A306S|PGBD3_ENST00000603152.1_Missense_Mutation_p.A306S|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.A306S|PGBD3_ENST00000374127.3_5'Flank	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	306					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGCACTGGGGCTGGAGGCGTG	0.428								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.3		NA																	0				lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						c.(916-918)GCC>TCC	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							196.0	193.0	194.0					10																	50732560		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50732560C>A	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.916G>T	10.37:g.50732560C>A	ENSP00000348089:p.Ala306Ser					PGBD3_uc001jht.2_5'Flank|PGBD3_uc009xoe.2_Missense_Mutation_p.A306S|PGBD3_uc001jhu.2_Missense_Mutation_p.A306S	p.A306S	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			5	1070	-			306					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.916G>T	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	5.838	0.338832	0.11069	.	.	ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000515869;ENST00000447839	D;T;T	0.82344	-1.6;3.5;3.5	6.03	-1.53	0.08611	.	.	.	.	.	T	0.48943	0.1528	N	0.00347	-1.61	0.09310	N	1	B;B	0.13594	0.008;0.0	B;B	0.10450	0.005;0.0	T	0.46803	-0.9165	9	0.07813	T	0.8	8.0E-4	12.3195	0.54977	0.0:0.4803:0.0:0.5197	.	306;306	E7EV46;Q03468	.;ERCC6_HUMAN	S	306	ENSP00000348089:A306S;ENSP00000423550:A306S;ENSP00000387966:A306S	ENSP00000348089:A306S	A	-	1	0	ERCC6;RP11-123B3.6	50402566	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.338000	0.07842	-0.276000	0.09206	-0.302000	0.09304	GCC		0.428	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		66	110	1	0	5.01e-31	6.22e-31	66	110				
PPRC1	23082	broad.mit.edu	37	10	103900410	103900410	+	Silent	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:103900410C>T	ENST00000278070.2	+	5	2184	c.2145C>T	c.(2143-2145)tcC>tcT	p.S715S	PPRC1_ENST00000413464.2_Silent_p.S715S|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	715					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGTCAGAGTCCTTGGACCCAC	0.532																																						uc001kum.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2143-2145)TCC>TCT		peroxisome proliferator-activated receptor							85.0	81.0	82.0					10																	103900410		2203	4300	6503	SO:0001819	synonymous_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103900410C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2145C>T	10.37:g.103900410C>T						PPRC1_uc001kun.2_Silent_p.S595S|PPRC1_uc010qqj.1_Silent_p.S715S|PPRC1_uc009xxa.2_RNA	p.S715S	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	2184	+		Colorectal(252;0.122)	715					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	c.2145C>T	CCDS7529.1																																																																																				0.532	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		8	61	0	0	0	0	8	61				
SORCS1	114815	broad.mit.edu	37	10	108923927	108923927	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr10:108923927G>A	ENST00000263054.6	-	1	365	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	SORCS1_ENST00000344440.6_Missense_Mutation_p.R120W	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	120					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.R120W(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCCTCTCCCCGTTCTGCCTTC	0.701																																						uc001kym.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	breast(1)|central_nervous_system(1)	2						c.(358-360)CGG>TGG		SORCS receptor 1 isoform a							37.0	37.0	37.0					10																	108923927		2203	4299	6502	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923927G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.358C>T	10.37:g.108923927G>A	ENSP00000263054:p.Arg120Trp					SORCS1_uc001kyl.2_Missense_Mutation_p.R120W|SORCS1_uc009xxs.2_Missense_Mutation_p.R120W|SORCS1_uc001kyn.1_Missense_Mutation_p.R120W|SORCS1_uc001kyo.2_Missense_Mutation_p.R120W	p.R120W	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	366	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	120			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.358C>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	5.418	0.262363	0.10294	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.19105	2.17;2.18	4.43	0.109	0.14578	.	1.058870	0.07503	N	0.907533	T	0.09158	0.0226	N	0.08118	0	0.09310	N	1	P;P;P;P;P	0.44281	0.74;0.831;0.831;0.74;0.831	B;B;B;B;B	0.36186	0.131;0.219;0.219;0.109;0.219	T	0.26985	-1.0087	9	.	.	.	2.9447	7.4878	0.27443	0.0:0.2841:0.281:0.435	.	120;120;120;120;120	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	W	120	ENSP00000263054:R120W;ENSP00000345964:R120W	.	R	-	1	2	SORCS1	108913917	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-0.115000	0.10741	-0.155000	0.11098	0.655000	0.94253	CGG		0.701	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		5	28	0	0	0	0	5	28				
ANO3	63982	broad.mit.edu	37	11	26529794	26529794	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr11:26529794G>C	ENST00000256737.3	+	5	1428	c.576G>C	c.(574-576)ttG>ttC	p.L192F	ANO3_ENST00000537978.1_Missense_Mutation_p.L176F|ANO3_ENST00000531646.1_Missense_Mutation_p.L192F|ANO3_ENST00000531568.1_Missense_Mutation_p.L46F|ANO3_ENST00000525139.1_Missense_Mutation_p.L176F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	192					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAGAAGGCTTGATGTTGGAGA	0.299																																						uc001mqt.3		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(574-576)TTG>TTC		transmembrane protein 16C							67.0	71.0	70.0					11																	26529794		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26529794G>C	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.576G>C	11.37:g.26529794G>C	ENSP00000256737:p.Leu192Phe					ANO3_uc010rdr.1_Missense_Mutation_p.L176F|ANO3_uc010rds.1_Missense_Mutation_p.L46F|ANO3_uc010rdt.1_Missense_Mutation_p.L46F	p.L192F	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			5	721	+			192			Cytoplasmic (Potential).		B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.576G>C	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375169	0.61735	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646;ENST00000538001;ENST00000531568	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.17;-0.35	5.58	0.452	0.16634	.	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	M	0.70275	2.135	0.80722	D	1	D;D	0.54772	0.968;0.968	P;P	0.56788	0.806;0.806	T	0.70846	-0.4761	10	0.52906	T	0.07	.	9.3375	0.38060	0.5317:0.0:0.4683:0.0	.	109;192	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	F	176;176;192;192;109;46	ENSP00000440737:L176F;ENSP00000432576:L176F;ENSP00000256737:L192F;ENSP00000435275:L192F;ENSP00000432394:L46F	ENSP00000256737:L192F	L	+	3	2	ANO3	26486370	0.996000	0.38824	0.998000	0.56505	0.996000	0.88848	0.316000	0.19469	0.117000	0.18138	0.585000	0.79938	TTG		0.299	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		19	20	0	0	0	0	19	20				
OR4C3	256144	broad.mit.edu	37	11	48346829	48346829	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr11:48346829G>A	ENST00000319856.4	+	1	358	c.337G>A	c.(337-339)Gag>Aag	p.E113K		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	86						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(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CTCATTGTATGAGGGGAGAAC	0.443																																						uc010rhv.1		NA																	0				skin(1)	1						c.(337-339)GAG>AAG		olfactory receptor, family 4, subfamily C,							237.0	224.0	228.0					11																	48346829		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346829G>A	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.337G>A	11.37:g.48346829G>A	ENSP00000321419:p.Glu113Lys						p.E113K	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			1	337	+			86			Extracellular (Potential).		B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.337G>A	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.617191	0.28801	.	.	ENSG00000176547	ENST00000319856	T	0.05649	3.41	5.78	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.135558	0.34531	N	0.003899	T	0.05135	0.0137	N	0.26162	0.8	0.09310	N	1	B	0.11235	0.004	B	0.21151	0.033	T	0.34153	-0.9840	10	0.27785	T	0.31	.	9.4368	0.38643	0.1608:0.0:0.8392:0.0	.	86	Q8NH37	OR4C3_HUMAN	K	113	ENSP00000321419:E113K	ENSP00000321419:E113K	E	+	1	0	OR4C3	48303405	0.000000	0.05858	0.937000	0.37676	0.398000	0.30690	0.210000	0.17455	2.782000	0.95742	0.478000	0.44815	GAG		0.443	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		10	204	0	0	0	0	10	204				
OR5J2	282775	broad.mit.edu	37	11	55944828	55944828	+	Silent	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr11:55944828G>T	ENST00000312298.1	+	1	735	c.735G>T	c.(733-735)ctG>ctT	p.L245L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CCTCTCACCTGACTGCTGTGA	0.438																																						uc010rjb.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(733-735)CTG>CTT		olfactory receptor, family 5, subfamily J,							135.0	124.0	128.0					11																	55944828		2201	4296	6497	SO:0001819	synonymous_variant	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944828G>T	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.735G>T	11.37:g.55944828G>T							p.L245L	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	735	+	Esophageal squamous(21;0.00693)		245			Helical; Name=6; (Potential).		Q6IEU5	Silent	SNP	ENST00000312298.1	37	c.735G>T	CCDS31522.1																																																																																				0.438	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		10	77	1	0	3.86e-05	4.35e-05	10	77				
OR5T2	219464	broad.mit.edu	37	11	56000661	56000661	+	Start_Codon_SNP	SNP	T	T	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr11:56000661T>C	ENST00000313264.4	-	1	76	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CTGTACGACATATATTCAGCA	0.373																																						uc010rjc.1		NA																	0				ovary(2)	2						c.(1-3)ATG>GTG		olfactory receptor, family 5, subfamily T,							125.0	121.0	122.0					11																	56000661		2197	4290	6487	SO:0001582	initiator_codon_variant	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000661T>C	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.1A>G	11.37:g.56000661T>C	ENSP00000323688:p.Met1Val						p.M1V	NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN			1	1	-	Esophageal squamous(21;0.00448)		1			Extracellular (Potential).		B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.1A>G	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	T	5.042	0.193492	0.09599	.	.	ENSG00000181718	ENST00000313264	T	0.00634	6.07	0.975	0.975	0.19721	.	.	.	.	.	T	0.00608	0.0020	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.58956	-0.7544	8	0.87932	D	0	.	4.3067	0.10951	0.0:0.0:0.0:1.0	.	1	Q8NGG2	OR5T2_HUMAN	V	1	ENSP00000323688:M1V	ENSP00000323688:M1V	M	-	1	0	OR5T2	55757237	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-0.254000	0.08781	0.739000	0.32628	0.375000	0.23000	ATG		0.373	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746	Missense_Mutation	42	52	0	0	0	0	42	52				
PPFIA1	8500	broad.mit.edu	37	11	70172809	70172809	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr11:70172809G>C	ENST00000253925.7	+	7	1030	c.815G>C	c.(814-816)cGc>cCc	p.R272P	AP000487.6_ENST00000528607.1_RNA|CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.R272P	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	272					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			ATGAAAGAACGCCTGGCTTCC	0.423																																						uc001opo.2		NA																	0				lung(2)|ovary(1)	3						c.(814-816)CGC>CCC		PTPRF interacting protein alpha 1 isoform b							170.0	174.0	173.0					11																	70172809		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70172809G>C	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.815G>C	11.37:g.70172809G>C	ENSP00000253925:p.Arg272Pro					PPFIA1_uc001opn.1_Missense_Mutation_p.R272P|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	p.R272P	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		7	1013	+			272			Potential.		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.815G>C	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.853356	0.71719	.	.	ENSG00000131626	ENST00000253925;ENST00000389547	T;T	0.79454	-1.27;-1.27	4.92	3.03	0.35002	.	0.141710	0.48286	U	0.000198	D	0.86682	0.5991	M	0.84846	2.72	0.58432	D	0.999998	D;D	0.65815	0.994;0.995	D;D	0.68192	0.933;0.956	D	0.86189	0.1611	10	0.87932	D	0	.	9.1415	0.36906	0.0766:0.0:0.7775:0.1459	.	272;272	Q13136;Q13136-2	LIPA1_HUMAN;.	P	272	ENSP00000253925:R272P;ENSP00000374198:R272P	ENSP00000253925:R272P	R	+	2	0	PPFIA1	69850457	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	9.638000	0.98445	0.591000	0.29711	0.655000	0.94253	CGC		0.423	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		54	876	0	0	0	0	54	876				
DDX10	1662	broad.mit.edu	37	11	108788633	108788633	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr11:108788633A>G	ENST00000322536.3	+	17	2467	c.2338A>G	c.(2338-2340)Agt>Ggt	p.S780G	DDX10_ENST00000526794.1_Missense_Mutation_p.S780G	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	780					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TCTGGATTGGAGtgatgatga	0.363			T	NUP98	AML*																																	uc001pkm.2		NA		Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|lung(1)|prostate(1)	4						c.(2338-2340)AGT>GGT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10							82.0	85.0	84.0					11																	108788633		2201	4298	6499	SO:0001583	missense	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108788633A>G	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2338A>G	11.37:g.108788633A>G	ENSP00000314348:p.Ser780Gly					DDX10_uc001pkl.1_Missense_Mutation_p.S780G	p.S780G	NM_004398	NP_004389	Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	17	2403	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	780					B2RCQ3|Q5BJD8	Missense_Mutation	SNP	ENST00000322536.3	37	c.2338A>G	CCDS8342.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.522962	0.44866	.	.	ENSG00000178105	ENST00000322536;ENST00000456020;ENST00000526794	T;T	0.41758	0.99;1.0	5.87	5.87	0.94306	.	0.188813	0.47852	D	0.000209	T	0.37489	0.1005	L	0.46157	1.445	0.33825	D	0.629531	P;P	0.38767	0.462;0.646	B;B	0.38194	0.066;0.267	T	0.51180	-0.8738	10	0.23302	T	0.38	-9.6077	13.9573	0.64157	1.0:0.0:0.0:0.0	.	780;780	Q13206;E9PIF2	DDX10_HUMAN;.	G	780;686;780	ENSP00000314348:S780G;ENSP00000432032:S780G	ENSP00000314348:S780G	S	+	1	0	DDX10	108293843	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.447000	0.60020	2.371000	0.80710	0.533000	0.62120	AGT		0.363	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		3	65	0	0	0	0	3	65				
SLC6A13	6540	broad.mit.edu	37	12	333173	333173	+	Silent	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr12:333173C>G	ENST00000343164.4	-	11	1348	c.1296G>C	c.(1294-1296)ctG>ctC	p.L432L	SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Silent_p.L340L	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	432					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TGAGCATGATCAGCCCCACAA	0.592																																						uc001qic.1		NA																	0					0						c.(1294-1296)CTG>CTC		solute carrier family 6 (neurotransmitter							93.0	83.0	86.0					12																	333173		2203	4300	6503	SO:0001819	synonymous_variant	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:333173C>G	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1296G>C	12.37:g.333173C>G						SLC6A13_uc009zdj.1_Silent_p.L422L|SLC6A13_uc010sdl.1_Silent_p.L340L	p.L432L	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		11	1349	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		432			Helical; Name=9; (Potential).		B4DJL1|Q8TCC2|Q8WW56	Silent	SNP	ENST00000343164.4	37	c.1296G>C	CCDS8502.1																																																																																				0.592	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		4	60	0	0	0	0	4	60				
TAS2R14	50840	broad.mit.edu	37	12	11091182	11091182	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr12:11091182G>C	ENST00000537503.1	-	1	680	c.625C>G	c.(625-627)Cgc>Ggc	p.R209G	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	209					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						ATCTTCTTGCGATGTTTCCAC	0.433																																						uc010shi.1		NA																	0					0						c.(625-627)CGC>GGC		taste receptor, type 2, member 14							79.0	85.0	83.0					12																	11091182		2203	4300	6503	SO:0001583	missense	50840				detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity	g.chr12:11091182G>C	AF227138	CCDS8637.1	12p13	2012-08-22			ENSG00000212127	ENSG00000212127		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14920	protein-coding gene	gene with protein product		604790				10761934, 10766242	Standard	NM_023922		Approved	T2R14, TRB1	uc010shi.2	Q9NYV8	OTTHUMG00000162720	ENST00000537503.1:c.625C>G	12.37:g.11091182G>C	ENSP00000441949:p.Arg209Gly					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.R209G	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN			1	625	-			209			Cytoplasmic (Potential).		Q645X3	Missense_Mutation	SNP	ENST00000537503.1	37	c.625C>G	CCDS8637.1	.	.	.	.	.	.	.	.	.	.	G	8.294	0.818344	0.16607	.	.	ENSG00000212127	ENST00000537503	T	0.00745	5.75	3.95	-0.418	0.12344	.	13.321600	0.02133	U	0.056537	T	0.00666	0.0022	N	0.14661	0.345	0.09310	N	1	B	0.16603	0.018	B	0.17722	0.019	T	0.48559	-0.9025	10	0.49607	T	0.09	.	0.9296	0.01332	0.2197:0.2001:0.4037:0.1766	.	209	Q9NYV8	T2R14_HUMAN	G	209	ENSP00000441949:R209G	ENSP00000375094:R209G	R	-	1	0	TAS2R14	10982449	0.005000	0.15991	0.006000	0.13384	0.002000	0.02628	0.119000	0.15626	0.093000	0.17368	-1.383000	0.01170	CGC		0.433	TAS2R14-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370194.4	NM_023922		12	59	0	0	0	0	12	59				
C12orf60	144608	broad.mit.edu	37	12	14976222	14976222	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr12:14976222C>T	ENST00000330828.2	+	2	557	c.353C>T	c.(352-354)gCc>gTc	p.A118V	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	118										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						TTCAAAAGTGCCCATACGCCA	0.428																																						uc001rcj.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(352-354)GCC>GTC		hypothetical protein LOC144608							158.0	155.0	156.0					12																	14976222		2203	4300	6503	SO:0001583	missense	144608							g.chr12:14976222C>T	BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.353C>T	12.37:g.14976222C>T	ENSP00000331691:p.Ala118Val						p.A118V	NM_175874	NP_787070	Q5U649	CL060_HUMAN			2	557	+			118					A8K1M7|Q5XKK8|Q8IXY2	Missense_Mutation	SNP	ENST00000330828.2	37	c.353C>T	CCDS8667.1	.	.	.	.	.	.	.	.	.	.	C	1.004	-0.689970	0.03328	.	.	ENSG00000182993	ENST00000330828	T	0.04970	3.52	4.36	-1.68	0.08212	.	1.109520	0.07022	N	0.826889	T	0.01730	0.0055	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.43163	-0.9408	10	0.02654	T	1	-0.1447	0.6805	0.00874	0.1976:0.329:0.1791:0.2943	.	118	Q5U649	CL060_HUMAN	V	118	ENSP00000331691:A118V	ENSP00000331691:A118V	A	+	2	0	C12orf60	14867489	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.072000	0.14617	-0.254000	0.09500	-0.367000	0.07326	GCC		0.428	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394735.1	NM_175874		5	103	0	0	0	0	5	103				
PDE3A	5139	broad.mit.edu	37	12	20769270	20769270	+	Missense_Mutation	SNP	G	G	A	rs141325069	byFrequency	TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr12:20769270G>A	ENST00000359062.3	+	4	1416	c.1376G>A	c.(1375-1377)cGg>cAg	p.R459Q	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	459					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GCACCAGTACGGAGAGACCGC	0.542													G|||	2	0.000399361	0.0	0.0014	5008	,	,		14359	0.0		0.001	False		,,,				2504	0.0					uc001reh.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1375-1377)CGG>CAG		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	127.0	111.0	116.0		1376	5.4	1.0	12	dbSNP_134	116	24,8576	17.9+/-57.8	0,24,4276	yes	missense	PDE3A	NM_000921.4	43	0,26,6477	AA,AG,GG		0.2791,0.0454,0.1999	probably-damaging	459/1142	20769270	26,12980	2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20769270G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1376G>A	12.37:g.20769270G>A	ENSP00000351957:p.Arg459Gln						p.R459Q	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			4	1398	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	459					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1376G>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411996	0.83340	4.54E-4	0.002791	ENSG00000172572	ENST00000359062	T	0.52295	0.67	5.43	5.43	0.79202	.	0.465596	0.16627	N	0.206215	T	0.70116	0.3187	M	0.72353	2.195	0.51482	D	0.999922	D	0.89917	1.0	D	0.81914	0.995	T	0.69304	-0.5180	10	0.52906	T	0.07	.	19.5966	0.95541	0.0:0.0:1.0:0.0	.	459	Q14432	PDE3A_HUMAN	Q	459	ENSP00000351957:R459Q	ENSP00000351957:R459Q	R	+	2	0	PDE3A	20660537	1.000000	0.71417	0.965000	0.40720	0.213000	0.24496	8.985000	0.93487	2.698000	0.92095	0.655000	0.94253	CGG		0.542	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			8	89	0	0	0	0	8	89				
KRT77	374454	broad.mit.edu	37	12	53086338	53086338	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr12:53086338C>G	ENST00000341809.3	-	7	1322	c.1294G>C	c.(1294-1296)Gag>Cag	p.E432Q	KRT77_ENST00000537195.1_Missense_Mutation_p.E199Q|RP11-641A6.3_ENST00000547533.1_RNA	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	432	Coil 2.|Rod.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AGGGCCTCCTCCAGGTCCTGC	0.622																																						uc001saw.2		NA																	0				ovary(1)	1						c.(1294-1296)GAG>CAG		keratin 77							44.0	41.0	42.0					12																	53086338		2203	4298	6501	SO:0001583	missense	374454					keratin filament	structural molecule activity	g.chr12:53086338C>G	BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20411	protein-coding gene	gene with protein product		611158	"""keratin 1B"""	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.1294G>C	12.37:g.53086338C>G	ENSP00000342710:p.Glu432Gln					KRT77_uc009zmi.2_Missense_Mutation_p.E190Q	p.E432Q	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN			7	1323	-			432			Rod.|Coil 2.		Q7RTS8	Missense_Mutation	SNP	ENST00000341809.3	37	c.1294G>C	CCDS8837.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747743	0.49257	.	.	ENSG00000189182	ENST00000341809;ENST00000537195	D;D	0.92048	-2.96;-2.96	4.29	4.29	0.51040	Filament (1);	.	.	.	.	D	0.95931	0.8675	M	0.86420	2.815	0.35019	D	0.757606	D	0.63880	0.993	D	0.68039	0.955	D	0.99000	1.0811	9	0.54805	T	0.06	.	13.7189	0.62714	0.0:0.8445:0.1555:0.0	.	432	Q7Z794	K2C1B_HUMAN	Q	432;199	ENSP00000342710:E432Q;ENSP00000440803:E199Q	ENSP00000342710:E432Q	E	-	1	0	KRT77	51372605	1.000000	0.71417	0.151000	0.22473	0.193000	0.23685	3.353000	0.52247	2.103000	0.63969	0.407000	0.27541	GAG		0.622	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404111.1	NM_175078		9	38	0	0	0	0	9	38				
SLC16A7	9194	broad.mit.edu	37	12	60169150	60169150	+	Silent	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr12:60169150C>G	ENST00000261187.4	+	4	1238	c.1074C>G	c.(1072-1074)ctC>ctG	p.L358L	SLC16A7_ENST00000552432.1_Silent_p.L358L|SLC16A7_ENST00000547379.1_Silent_p.L358L|SLC16A7_ENST00000543448.1_Silent_p.L259L|SLC16A7_ENST00000552024.1_Silent_p.L358L	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	358					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	GCAGTGTTCTCTTTGAAACTC	0.502																																						uc001sqs.2		NA																	0				ovary(1)	1						c.(1072-1074)CTC>CTG		solute carrier family 16, member 7	Pyruvic acid(DB00119)						166.0	152.0	157.0					12																	60169150		2203	4300	6503	SO:0001819	synonymous_variant	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60169150C>G	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1074C>G	12.37:g.60169150C>G						SLC16A7_uc001sqt.2_Silent_p.L358L|SLC16A7_uc001squ.2_Silent_p.L358L|SLC16A7_uc009zqi.2_Silent_p.L259L|SLC16A7_uc010ssi.1_Silent_p.L259L	p.L358L	NM_004731	NP_004722	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	5	1373	+			358			Helical; (Potential).		Q8NEM3|Q9UPB3	Silent	SNP	ENST00000261187.4	37	c.1074C>G	CCDS8961.1																																																																																				0.502	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		18	123	0	0	0	0	18	123				
RAB3IP	117177	broad.mit.edu	37	12	70206629	70206629	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr12:70206629A>C	ENST00000247833.7	+	9	1578	c.1202A>C	c.(1201-1203)tAt>tCt	p.Y401S	RAB3IP_ENST00000362025.5_Intron|RAB3IP_ENST00000551641.1_Missense_Mutation_p.Y195S|RAB3IP_ENST00000325555.9_Missense_Mutation_p.Y195S|RAB3IP_ENST00000550536.1_Missense_Mutation_p.Y417S|AC025263.3_ENST00000550437.1_Missense_Mutation_p.Y42S|RAB3IP_ENST00000553099.1_Missense_Mutation_p.Y195S|RAB3IP_ENST00000550847.1_Missense_Mutation_p.Y108S|RAB3IP_ENST00000483530.2_Intron					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AGCAACTATTATTATATTTCT	0.328																																						uc001svp.2		NA																	0				ovary(1)	1						c.(1249-1251)TAT>TCT		RAB3A interacting protein isoform alpha 2							90.0	95.0	93.0					12																	70206629		2203	4300	6503	SO:0001583	missense	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70206629A>C		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.1202A>C	12.37:g.70206629A>C	ENSP00000247833:p.Tyr401Ser					RAB3IP_uc001svm.2_Missense_Mutation_p.Y401S|RAB3IP_uc001svn.2_Intron|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_Intron|RAB3IP_uc001svr.2_Intron|RAB3IP_uc001svs.2_RNA|RAB3IP_uc001svt.2_Missense_Mutation_p.Y195S	p.Y417S	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		9	1697	+	Esophageal squamous(21;0.187)		417						Missense_Mutation	SNP	ENST00000247833.7	37	c.1250A>C	CCDS8995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.6|22.6	4.307577|4.307577	0.81247|0.81247	.|.	.|.	ENSG00000127328|ENSG00000127328	ENST00000526994|ENST00000247833;ENST00000325555;ENST00000550536;ENST00000551641;ENST00000553099;ENST00000550847	.|T;T;T;T;T;T	.|0.46819	.|0.86;0.86;0.86;0.86;0.86;0.86	6.01|6.01	4.84|4.84	0.62591|0.62591	.|.	.|0.111772	.|0.64402	.|N	.|0.000006	T|T	0.69984|0.69984	0.3172|0.3172	M|M	0.83118|0.83118	2.625|2.625	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.78314	.|0.991	T|T	0.74269|0.74269	-0.3720|-0.3720	5|10	.|0.72032	.|D	.|0.01	.|.	13.2794|13.2794	0.60207|0.60207	0.8677:0.1323:0.0:0.0|0.8677:0.1323:0.0:0.0	.|.	.|417	.|Q96QF0	.|RAB3I_HUMAN	L|S	133|401;195;417;195;195;108	.|ENSP00000247833:Y401S;ENSP00000323349:Y195S;ENSP00000447300:Y417S;ENSP00000448773:Y195S;ENSP00000448027:Y195S;ENSP00000448102:Y108S	.|ENSP00000447336:Y42S	I|Y	+|+	1|2	0|0	RAB3IP|RAB3IP	68492896|68492896	1.000000|1.000000	0.71417|0.71417	0.914000|0.914000	0.36105|0.36105	0.991000|0.991000	0.79684|0.79684	8.962000|8.962000	0.93254|0.93254	1.064000|1.064000	0.40671|0.40671	0.528000|0.528000	0.53228|0.53228	ATT|TAT		0.328	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		23	59	0	0	0	0	23	59				
HSP90B1	7184	broad.mit.edu	37	12	104337038	104337038	+	Missense_Mutation	SNP	G	G	T	rs567003190		TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr12:104337038G>T	ENST00000299767.5	+	13	2013	c.1831G>T	c.(1831-1833)Gtt>Ttt	p.V611F		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	611					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TCGTGAAGCAGTTGAGAAAGA	0.418																																						uc001tkb.1		NA																	0				ovary(2)|skin(1)	3						c.(1831-1833)GTT>TTT		heat shock protein 90kDa beta, member 1	Rifabutin(DB00615)						65.0	68.0	67.0					12																	104337038		2203	4300	6503	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104337038G>T	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1831G>T	12.37:g.104337038G>T	ENSP00000299767:p.Val611Phe					HSP90B1_uc010swg.1_Missense_Mutation_p.V276F|HSP90B1_uc009zui.1_Intron	p.V611F	NM_003299	NP_003290	P14625	ENPL_HUMAN			13	1936	+			611					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.1831G>T	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445801	0.43429	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.09723	2.95	5.85	-6.4	0.01944	.	0.409841	0.26627	N	0.023338	T	0.05868	0.0153	L	0.28694	0.88	0.09310	N	1	B	0.30870	0.298	B	0.34242	0.178	T	0.13602	-1.0503	10	0.56958	D	0.05	.	4.4656	0.11687	0.5858:0.0776:0.1954:0.1412	.	611	P14625	ENPL_HUMAN	F	611;361	ENSP00000299767:V611F	ENSP00000299767:V611F	V	+	1	0	HSP90B1	102861168	0.000000	0.05858	0.003000	0.11579	0.978000	0.69477	-1.137000	0.03219	-1.610000	0.01583	-0.822000	0.03109	GTT		0.418	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		15	33	1	0	8.6e-14	1.03e-13	15	33				
RCBTB2	1102	broad.mit.edu	37	13	49076892	49076892	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr13:49076892G>A	ENST00000344532.3	-	11	1508	c.1085C>T	c.(1084-1086)aCg>aTg	p.T362M	RCBTB2_ENST00000430805.2_Missense_Mutation_p.T367M|RCBTB2_ENST00000544904.1_3'UTR|RCBTB2_ENST00000544492.1_Missense_Mutation_p.T88M	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	362					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GACGGCGGGCGTGGCAAAGCA	0.612																																						uc001vch.2		NA																	0				ovary(2)|lung(2)|skin(1)	5						c.(1084-1086)ACG>ATG		regulator of chromosome condensation and BTB							77.0	63.0	68.0					13																	49076892		2203	4300	6503	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49076892G>A	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1085C>T	13.37:g.49076892G>A	ENSP00000345144:p.Thr362Met					RCBTB2_uc010tgg.1_Missense_Mutation_p.T367M|RCBTB2_uc001vci.2_Missense_Mutation_p.T338M|RCBTB2_uc010tgh.1_Missense_Mutation_p.T88M|RCBTB2_uc001vcj.2_Missense_Mutation_p.T314M|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_3'UTR	p.T362M	NM_001268	NP_001259	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	11	1456	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	362			RCC1 6.		B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.1085C>T	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015724	0.75161	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;T	0.75477	-0.05;-0.05;-0.94	5.59	5.59	0.84812	.	0.042568	0.85682	D	0.000000	T	0.75474	0.3854	L	0.38838	1.175	0.80722	D	1	P;B;D;B	0.62365	0.65;0.265;0.991;0.265	B;B;P;B	0.50231	0.154;0.062;0.635;0.062	T	0.76892	-0.2791	10	0.56958	D	0.05	.	19.956	0.97218	0.0:0.0:1.0:0.0	.	88;367;314;362	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	M	362;314;367;367;88	ENSP00000345144:T362M;ENSP00000389910:T367M;ENSP00000443862:T88M	ENSP00000345144:T362M	T	-	2	0	RCBTB2	47974893	1.000000	0.71417	0.960000	0.40013	0.191000	0.23601	6.387000	0.73191	2.788000	0.95919	0.557000	0.71058	ACG		0.612	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268		5	57	0	0	0	0	5	57				
FARP1	10160	broad.mit.edu	37	13	99047720	99047720	+	Silent	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr13:99047720G>A	ENST00000319562.6	+	13	1669	c.1404G>A	c.(1402-1404)caG>caA	p.Q468Q	FARP1_ENST00000595437.1_Silent_p.Q468Q|FARP1_ENST00000376586.2_Silent_p.Q468Q	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	468					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGCCCCCGCAGCCAAGCACAG	0.592																																						uc001vnj.2		NA																	0				breast(2)	2						c.(1402-1404)CAG>CAA		FERM, RhoGEF, and pleckstrin domain protein 1							41.0	47.0	45.0					13																	99047720		2008	4079	6087	SO:0001819	synonymous_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99047720G>A	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1404G>A	13.37:g.99047720G>A						FARP1_uc001vnh.2_Silent_p.Q468Q	p.Q468Q	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		13	1740	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		468					Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	c.1404G>A	CCDS9487.1																																																																																				0.592	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		31	41	0	0	0	0	31	41				
ATP11A	23250	broad.mit.edu	37	13	113481200	113481200	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr13:113481200G>A	ENST00000487903.1	+	12	1304	c.1216G>A	c.(1216-1218)Gga>Aga	p.G406R	ATP11A_ENST00000283558.8_Missense_Mutation_p.G406R|ATP11A_ENST00000375630.2_Missense_Mutation_p.G406R|ATP11A_ENST00000375645.3_Missense_Mutation_p.G406R			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	406					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G406>?(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TGAAGAGCTGGGACAGGTTGG	0.547																																						uc001vsi.3		NA																	2	Complex(2)		lung(2)	large_intestine(2)|ovary(2)	4						c.(1216-1218)GGA>AGA		ATPase, class VI, type 11A isoform a							80.0	72.0	75.0					13																	113481200		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113481200G>A	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1216G>A	13.37:g.113481200G>A	ENSP00000420387:p.Gly406Arg					ATP11A_uc001vsj.3_Missense_Mutation_p.G406R|ATP11A_uc001vsm.1_Missense_Mutation_p.G282R	p.G406R	NM_015205	NP_056020	P98196	AT11A_HUMAN			12	1304	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	406			Cytoplasmic (Potential).		Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.1216G>A	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.31|18.31	3.596768|3.596768	0.66332|0.66332	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558|ENST00000418678	D;D;D;D|.	0.96136|.	-3.92;-3.92;-3.92;-3.92|.	5.4|5.4	5.4|5.4	0.78164|0.78164	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.91841|.	0.7418|.	H|H	0.99582|0.99582	4.64|4.64	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;0.998|.	D|.	0.95359|.	0.8454|.	10|.	0.87932|.	D|.	0|.	.|.	19.1818|19.1818	0.93627|0.93627	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	406;406;406|.	E9PCW5;E9PEJ6;P98196|.	.;.;AT11A_HUMAN|.	R|X	406|380	ENSP00000420387:G406R;ENSP00000364781:G406R;ENSP00000364796:G406R;ENSP00000283558:G406R|.	ENSP00000283558:G406R|.	G|W	+|+	1|3	0|0	ATP11A|ATP11A	112529201|112529201	1.000000|1.000000	0.71417|0.71417	0.313000|0.313000	0.25210|0.25210	0.027000|0.027000	0.11550|0.11550	9.445000|9.445000	0.97587|0.97587	2.537000|2.537000	0.85549|0.85549	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.547	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		5	13	0	0	0	0	5	13				
OR11G2	390439	broad.mit.edu	37	14	20665703	20665703	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr14:20665703C>A	ENST00000357366.3	+	1	209	c.209C>A	c.(208-210)aCt>aAt	p.T70N		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTGCTCTTCACTGTTGTTTAC	0.567																																						uc010tlb.1		NA																	0				ovary(1)|skin(1)	2						c.(208-210)ACT>AAT		olfactory receptor, family 11, subfamily G,							101.0	83.0	89.0					14																	20665703		2203	4300	6503	SO:0001583	missense	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20665703C>A		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.209C>A	14.37:g.20665703C>A	ENSP00000349930:p.Thr70Asn						p.T70N	NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	209	+	all_cancers(95;0.00108)		70			Helical; Name=1; (Potential).		Q6IF09|Q96R33	Missense_Mutation	SNP	ENST00000357366.3	37	c.209C>A	CCDS32032.1	.	.	.	.	.	.	.	.	.	.	c	7.812	0.715950	0.15306	.	.	ENSG00000196832	ENST00000357366	T	0.00576	6.45	4.53	1.39	0.22231	.	0.553031	0.15051	U	0.283312	T	0.00724	0.0024	L	0.55213	1.73	0.09310	N	1	B	0.24533	0.105	B	0.22880	0.042	T	0.42849	-0.9427	10	0.87932	D	0	.	7.6587	0.28389	0.0:0.6095:0.0:0.3905	.	70	Q8NGC1	O11G2_HUMAN	N	70	ENSP00000349930:T70N	ENSP00000349930:T70N	T	+	2	0	OR11G2	19735543	0.000000	0.05858	0.168000	0.22838	0.550000	0.35303	0.401000	0.20948	0.505000	0.28104	0.555000	0.69702	ACT		0.567	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			58	48	1	0	6.21e-19	7.63e-19	58	48				
NYNRIN	57523	broad.mit.edu	37	14	24886290	24886290	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr14:24886290G>A	ENST00000382554.3	+	9	5653	c.5335G>A	c.(5335-5337)Gca>Aca	p.A1779T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1779					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GATGAGCAGCGCAAACATTGA	0.617																																						uc001wpf.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(5335-5337)GCA>ACA		hypothetical protein LOC57523							51.0	56.0	54.0					14																	24886290		2071	4207	6278	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24886290G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.5335G>A	14.37:g.24886290G>A	ENSP00000371994:p.Ala1779Thr						p.A1779T	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			9	5653	+			1779					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.5335G>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640226	0.67244	.	.	ENSG00000205978	ENST00000382554	T	0.10192	2.9	5.08	5.08	0.68730	.	.	.	.	.	T	0.20251	0.0487	N	0.24115	0.695	0.22842	N	0.998664	D	0.89917	1.0	D	0.76575	0.988	T	0.11036	-1.0604	9	0.46703	T	0.11	.	13.8328	0.63391	0.0:0.0:1.0:0.0	.	1779	Q9P2P1	NYNRI_HUMAN	T	1779	ENSP00000371994:A1779T	ENSP00000371994:A1779T	A	+	1	0	NYNRIN	23956130	0.890000	0.30428	0.748000	0.31131	0.644000	0.38419	1.278000	0.33179	2.640000	0.89533	0.655000	0.94253	GCA		0.617	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			4	137	0	0	0	0	4	137				
SYNE2	23224	broad.mit.edu	37	14	64491050	64491050	+	Silent	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr14:64491050C>T	ENST00000344113.4	+	39	5925	c.5713C>T	c.(5713-5715)Ctg>Ttg	p.L1905L	SYNE2_ENST00000554584.1_Silent_p.L1905L|SYNE2_ENST00000358025.3_Silent_p.L1905L|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1905					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAGAAGCATCTGCCCAAAGC	0.433																																						uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(5713-5715)CTG>TTG		spectrin repeat containing, nuclear envelope 2							105.0	107.0	106.0					14																	64491050		2047	4199	6246	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64491050C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.5713C>T	14.37:g.64491050C>T						SYNE2_uc001xgl.2_Silent_p.L1905L	p.L1905L	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	39	5943	+			1905			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.5713C>T	CCDS41963.1																																																																																				0.433	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		29	41	0	0	0	0	29	41				
PCNX	22990	broad.mit.edu	37	14	71543136	71543136	+	Splice_Site	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr14:71543136G>T	ENST00000304743.2	+	28	5783	c.5337G>T	c.(5335-5337)aaG>aaT	p.K1779N	PCNX_ENST00000439984.3_Splice_Site_p.K1668N|PCNX_ENST00000238570.5_Splice_Site_p.K1707N	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1779						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GAAGAGCAAAGGTAGAGTTTA	0.403																																						uc001xmo.2		NA																	0				ovary(1)	1						c.(5335-5337)AAG>AAT		pecanex-like 1							62.0	59.0	60.0					14																	71543136		2203	4300	6503	SO:0001630	splice_region_variant	22990					integral to membrane		g.chr14:71543136G>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.5337+1G>T	14.37:g.71543136G>T						PCNX_uc010are.1_Missense_Mutation_p.K1668N|PCNX_uc010arf.1_Missense_Mutation_p.K567N	p.K1779N	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	28	5783	+			1779					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.5337G>T	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.40|17.40	3.380378|3.380378	0.61845|0.61845	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.10860|.	3.27;3.29;2.83|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.060308|.	0.64402|.	D|.	0.000005|.	T|T	0.70159|0.70159	0.3192|0.3192	L|L	0.47716|0.47716	1.5|1.5	0.51233|0.51233	D|D	0.999919|0.999919	D;B;P|.	0.61080|.	0.989;0.256;0.891|.	P;B;P|.	0.58266|.	0.836;0.173;0.492|.	T|T	0.64495|0.64495	-0.6394|-0.6394	10|5	0.54805|.	T|.	0.06|.	.|.	20.0572|20.0572	0.97657|0.97657	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1707;1668;1779|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	N|I	1779;1707;1668|766	ENSP00000304192:K1779N;ENSP00000238570:K1707N;ENSP00000396617:K1668N|.	ENSP00000238570:K1707N|.	K|S	+|+	3|2	2|0	PCNX|PCNX	70612889|70612889	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	9.420000|9.420000	0.97426|0.97426	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	AAG|AGC		0.403	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982	Missense_Mutation	8	23	1	0	0.000157383	0.000174356	8	23				
TMEM63C	57156	broad.mit.edu	37	14	77715746	77715746	+	Missense_Mutation	SNP	C	C	G	rs377609059		TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr14:77715746C>G	ENST00000298351.4	+	21	2127	c.1983C>G	c.(1981-1983)atC>atG	p.I661M		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	661					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCCAGGCCATCTTTGCGCCAC	0.562																																						uc001xtf.2		NA																	0					0						c.(1981-1983)ATC>ATG		transmembrane protein 63C							142.0	146.0	144.0					14																	77715746		2131	4223	6354	SO:0001583	missense	57156					integral to membrane		g.chr14:77715746C>G		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.1983C>G	14.37:g.77715746C>G	ENSP00000298351:p.Ile661Met					TMEM63C_uc010asq.1_Missense_Mutation_p.I661M	p.I661M	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	21	2195	+			661			Helical; (Potential).		B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	ENST00000298351.4	37	c.1983C>G	CCDS45141.1	.	.	.	.	.	.	.	.	.	.	C	7.391	0.630795	0.14322	.	.	ENSG00000165548	ENST00000298351;ENST00000536110	T	0.32753	1.44	5.4	-7.37	0.01412	Domain of unknown function DUF221 (1);	0.555023	0.22206	N	0.063179	T	0.10981	0.0268	N	0.11064	0.09	0.22531	N	0.999016	B	0.12630	0.006	B	0.22880	0.042	T	0.16453	-1.0402	10	0.21540	T	0.41	-7.2157	7.6435	0.28307	0.0786:0.1427:0.5468:0.2319	.	661	Q9P1W3	TM63C_HUMAN	M	661;231	ENSP00000298351:I661M	ENSP00000298351:I661M	I	+	3	3	TMEM63C	76785499	0.032000	0.19561	0.114000	0.21550	0.693000	0.40251	-0.729000	0.04920	-1.462000	0.01907	-0.291000	0.09656	ATC		0.562	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			9	48	0	0	0	0	9	48				
EML1	2009	broad.mit.edu	37	14	100376629	100376629	+	Silent	SNP	T	T	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr14:100376629T>G	ENST00000262233.6	+	12	1429	c.1290T>G	c.(1288-1290)ggT>ggG	p.G430G	EML1_ENST00000334192.4_Silent_p.G449G|EML1_ENST00000327921.9_Silent_p.G418G	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	430	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CTGAAAACGGTGACACCATTA	0.333																																						uc001ygs.2		NA																	0				large_intestine(2)|pancreas(1)|ovary(1)|skin(1)	5						c.(1288-1290)GGT>GGG		echinoderm microtubule associated protein like 1							96.0	94.0	95.0					14																	100376629		2203	4300	6503	SO:0001819	synonymous_variant	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100376629T>G	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1290T>G	14.37:g.100376629T>G						EML1_uc010tww.1_Silent_p.G418G|EML1_uc001ygq.2_Silent_p.G449G|EML1_uc001ygr.2_Silent_p.G449G	p.G430G	NM_004434	NP_004425	O00423	EMAL1_HUMAN			12	1359	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	430			WD 4.		Q86U15|Q8N536|Q8N5C4|Q8WWL6	Silent	SNP	ENST00000262233.6	37	c.1290T>G	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	T	11.12	1.546569	0.27652	.	.	ENSG00000066629	ENST00000554386	.	.	.	5.24	-1.59	0.08453	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.4994	5.9067	0.19004	0.0:0.2816:0.1275:0.5909	.	.	.	.	G	123	.	.	X	+	1	0	EML1	99446382	0.533000	0.26354	0.974000	0.42286	0.995000	0.86356	-0.258000	0.08733	-0.196000	0.10366	0.533000	0.62120	TGA		0.333	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		12	73	0	0	0	0	12	73				
EIF2AK4	440275	broad.mit.edu	37	15	40313219	40313219	+	Silent	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr15:40313219C>T	ENST00000263791.5	+	31	4336	c.4293C>T	c.(4291-4293)gaC>gaT	p.D1431D	EIF2AK4_ENST00000382727.2_Silent_p.D1403D	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1431	Histidyl-tRNA synthetase-like.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TCATGTACGACTGGTCACAGG	0.473																																						uc001zkm.1		NA																	0				lung(2)|stomach(1)|skin(1)	4						c.(4291-4293)GAC>GAT		eukaryotic translation initiation factor 2 alpha							94.0	87.0	89.0					15																	40313219		1992	4168	6160	SO:0001819	synonymous_variant	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40313219C>T	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.4293C>T	15.37:g.40313219C>T						EIF2AK4_uc010bbj.1_Silent_p.D1132D|EIF2AK4_uc001zkn.1_Silent_p.D531D|EIF2AK4_uc001zko.1_Silent_p.D312D|EIF2AK4_uc010bbk.1_RNA	p.D1431D	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	31	4343	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	1431			Histidyl-tRNA synthetase-like.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	c.4293C>T	CCDS42016.1																																																																																				0.473	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			5	36	0	0	0	0	5	36				
CAPN3	825	broad.mit.edu	37	15	42703502	42703502	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr15:42703502G>C	ENST00000397163.3	+	23	2617	c.2398G>C	c.(2398-2400)Gac>Cac	p.D800H	CAPN3_ENST00000337571.4_Missense_Mutation_p.D135H|CAPN3_ENST00000356316.3_Missense_Mutation_p.D707H|CAPN3_ENST00000318023.7_Missense_Mutation_p.D794H|CAPN3_ENST00000569136.1_Missense_Mutation_p.D135H|CAPN3_ENST00000349748.3_Missense_Mutation_p.D708H|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000397200.4_Missense_Mutation_p.D288H|CAPN3_ENST00000397204.4_Missense_Mutation_p.D135H|CAPN3_ENST00000561817.1_Missense_Mutation_p.D135H|CAPN3_ENST00000357568.3_Missense_Mutation_p.D794H	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	800	Domain IV.|EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TCATGCATTTGACAAGGATGG	0.498																																						uc001zpn.1		NA																	0				central_nervous_system(1)	1						c.(2398-2400)GAC>CAC		calpain 3 isoform a							151.0	135.0	141.0					15																	42703502		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42703502G>C	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.2398G>C	15.37:g.42703502G>C	ENSP00000380349:p.Asp800His					CAPN3_uc001zpk.1_Missense_Mutation_p.D567H|CAPN3_uc001zpl.1_Missense_Mutation_p.D707H|CAPN3_uc010udf.1_Missense_Mutation_p.D713H|CAPN3_uc010udg.1_Missense_Mutation_p.D665H|CAPN3_uc001zpo.1_Missense_Mutation_p.D794H|CAPN3_uc001zpp.1_Missense_Mutation_p.D708H|CAPN3_uc001zpq.1_Missense_Mutation_p.D288H|CAPN3_uc010bcv.1_Missense_Mutation_p.D135H|CAPN3_uc001zpr.1_Missense_Mutation_p.D135H|CAPN3_uc001zps.1_Missense_Mutation_p.D135H|CAPN3_uc001zpt.1_Missense_Mutation_p.D135H	p.D800H	NM_000070	NP_000061	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	23	2704	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	800			EF-hand 4.|Domain IV.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.2398G>C	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	34	5.324022	0.95708	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200;ENST00000337571;ENST00000397204	D;D;D;D;D;D;D;D	0.97959	-4.63;-4.63;-4.63;-4.63;-4.63;-4.63;-2.59;-2.59	6.17	6.17	0.99709	EF-hand-like domain (1);	0.154015	0.47093	U	0.000248	D	0.99010	0.9662	M	0.88704	2.975	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.97110	0.995;0.998;0.998;1.0;0.997;0.994;0.994	D	0.99271	1.0893	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	665;713;135;708;794;800;707	C6EVS4;C6EVS3;A4FTZ9;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;.;CAN3_HUMAN;.	H	707;288;800;794;708;794;288;135;135	ENSP00000348667:D707H;ENSP00000380349:D800H;ENSP00000350181:D794H;ENSP00000183936:D708H;ENSP00000326281:D794H;ENSP00000380384:D288H;ENSP00000336840:D135H;ENSP00000380387:D135H	ENSP00000326281:D794H	D	+	1	0	CAPN3	40490794	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAC		0.498	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			16	61	0	0	0	0	16	61				
C15orf27	123591	broad.mit.edu	37	15	76452436	76452436	+	Splice_Site	SNP	T	T	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr15:76452436T>C	ENST00000388942.3	+	5	659	c.383T>C	c.(382-384)tTt>tCt	p.F128S		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	128					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TCCATTGCAGTTTCCAGCGCA	0.557																																						uc002bbq.2		NA																	0					0						c.(382-384)TTT>TCT		hypothetical protein LOC123591							282.0	298.0	293.0					15																	76452436		2164	4252	6416	SO:0001630	splice_region_variant	123591					integral to membrane		g.chr15:76452436T>C	AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.383-1T>C	15.37:g.76452436T>C						C15orf27_uc010bkp.2_5'UTR|C15orf27_uc002bbr.2_5'UTR	p.F128S	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN			5	538	+			128					Q8N993|Q96LL5	Missense_Mutation	SNP	ENST00000388942.3	37	c.383T>C	CCDS10289.2	.	.	.	.	.	.	.	.	.	.	T	16.19	3.052821	0.55218	.	.	ENSG00000169758	ENST00000388942	T	0.32023	1.47	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000001	T	0.55273	0.1910	M	0.71581	2.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.55211	-0.8176	9	.	.	.	.	15.3928	0.74758	0.0:0.0:0.0:1.0	.	128	Q2M3C6	CO027_HUMAN	S	128	ENSP00000373594:F128S	.	F	+	2	0	C15orf27	74239491	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	7.341000	0.79300	2.221000	0.72209	0.460000	0.39030	TTT		0.557	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286637.2	NM_152335	Missense_Mutation	27	123	0	0	0	0	27	123				
ABCC1	4363	broad.mit.edu	37	16	16232272	16232272	+	Silent	SNP	G	G	A	rs36115566	byFrequency	TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr16:16232272G>A	ENST00000399410.3	+	30	4519	c.4344G>A	c.(4342-4344)acG>acA	p.T1448T	ABCC1_ENST00000399408.2_Silent_p.T1458T|ABCC1_ENST00000349029.5_Silent_p.T1333T|ABCC1_ENST00000345148.5_Intron|ABCC1_ENST00000346370.5_Silent_p.T1392T|ABCC1_ENST00000351154.5_Silent_p.T1389T	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1448	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	TGAGGAAGACGAAGATCCTTG	0.597													G|||	9	0.00179712	0.0068	0.0	5008	,	,		15755	0.0		0.0	False		,,,				2504	0.0					uc010bvi.2		NA																	0				ovary(4)	4						c.(4342-4344)ACG>ACA		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	G	,,,,	20,4040		0,20,2010	54.0	58.0	57.0		4344,4167,4176,3999,	-10.7	0.1	16	dbSNP_126	57	0,8370		0,0,4185	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	ABCC1	NM_004996.3,NM_019862.2,NM_019898.2,NM_019899.2,NM_019900.2	,,,,	0,20,6195	AA,AG,GG		0.0,0.4926,0.1609	,,,,	1448/1532,1389/1473,1392/1476,1333/1417,	16232272	20,12410	2030	4185	6215	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16232272G>A	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.4344G>A	16.37:g.16232272G>A						ABCC1_uc010bvj.2_Silent_p.T1389T|ABCC1_uc010bvk.2_Silent_p.T1392T|ABCC1_uc010bvl.2_Intron|ABCC1_uc010bvm.2_Silent_p.T1333T|ABCC1_uc002del.3_Silent_p.T1342T	p.T1448T	NM_004996	NP_004987	P33527	MRP1_HUMAN			30	4519	+			1448			ABC transporter 2.|Cytoplasmic.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.4344G>A	CCDS42122.1																																																																																				0.597	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		7	41	0	0	0	0	7	41				
CAPNS2	84290	broad.mit.edu	37	16	55601269	55601269	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr16:55601269G>C	ENST00000457326.2	+	1	686	c.601G>C	c.(601-603)Gat>Cat	p.D201H	LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	201	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						TGCTAATGAAGATGGAGATAT	0.488																																						uc002eid.1		NA																	0					0						c.(601-603)GAT>CAT		calpain small subunit 2							185.0	180.0	182.0					16																	55601269		1933	4146	6079	SO:0001583	missense	84290					cytoplasm|plasma membrane	calcium ion binding	g.chr16:55601269G>C	AY052551	CCDS54010.1	16q12.2	2013-01-10						"""EF-hand domain containing"""	16371	protein-coding gene	gene with protein product						11853546	Standard	NM_032330		Approved	MGC12536, MGC14804	uc002eid.1	Q96L46		ENST00000457326.2:c.601G>C	16.37:g.55601269G>C	ENSP00000400882:p.Asp201His					LPCAT2_uc002eie.3_Intron|LPCAT2_uc002eic.2_Intron	p.D201H	NM_032330	NP_115706	Q96L46	CPNS2_HUMAN			1	686	+			201			EF-hand 3.		Q9BPV4	Missense_Mutation	SNP	ENST00000457326.2	37	c.601G>C	CCDS54010.1	.	.	.	.	.	.	.	.	.	.	G	1.863	-0.462209	0.04508	.	.	ENSG00000256812	ENST00000457326	T	0.52983	0.64	5.98	4.05	0.47172	EF-hand-like domain (1);	.	.	.	.	T	0.38374	0.1038	L	0.41356	1.27	0.24527	N	0.994134	B	0.09022	0.002	B	0.09377	0.004	T	0.23476	-1.0187	9	0.34782	T	0.22	.	10.1488	0.42780	0.2021:0.0:0.7979:0.0	.	201	Q96L46	CPNS2_HUMAN	H	201	ENSP00000400882:D201H	ENSP00000400882:D201H	D	+	1	0	CAPNS2	54158770	0.958000	0.32768	0.212000	0.23672	0.051000	0.14879	1.915000	0.39976	0.882000	0.36016	-0.143000	0.13931	GAT		0.488	CAPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396391.1	NM_032330		12	171	0	0	0	0	12	171				
CNGB1	1258	broad.mit.edu	37	16	57954416	57954416	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr16:57954416G>T	ENST00000251102.8	-	19	1736	c.1676C>A	c.(1675-1677)aCa>aAa	p.T559K	CNGB1_ENST00000564448.1_Missense_Mutation_p.T553K	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	559					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGCGCTATTTGTGCTGGCCGT	0.612																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2		NA																	0				breast(3)|pancreas(1)	4						c.(1675-1677)ACA>AAA		cyclic nucleotide gated channel beta 1 isoform							68.0	74.0	72.0					16																	57954416		2013	4177	6190	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57954416G>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1676C>A	16.37:g.57954416G>T	ENSP00000251102:p.Thr559Lys					CNGB1_uc010cdh.2_Missense_Mutation_p.T553K	p.T559K	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			19	1741	-			559			Cytoplasmic (Potential).		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.1676C>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	G	9.247	1.039774	0.19669	.	.	ENSG00000070729	ENST00000251102	T	0.75704	-0.96	5.43	4.34	0.51931	.	0.186791	0.35291	N	0.003318	T	0.52964	0.1767	N	0.22421	0.69	0.80722	D	1	B	0.31435	0.323	B	0.27380	0.079	T	0.44298	-0.9337	10	0.07813	T	0.8	.	8.0577	0.30614	0.1294:0.0:0.1458:0.7248	.	559	Q14028	CNGB1_HUMAN	K	559	ENSP00000251102:T559K	ENSP00000251102:T559K	T	-	2	0	CNGB1	56511917	0.945000	0.32115	1.000000	0.80357	0.094000	0.18550	1.007000	0.29860	0.918000	0.36919	-0.397000	0.06425	ACA		0.612	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		5	67	1	0	2.77e-08	3.25e-08	5	67				
AP1G1	164	broad.mit.edu	37	16	71779057	71779057	+	Silent	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr16:71779057G>A	ENST00000299980.4	-	19	2430	c.1989C>T	c.(1987-1989)atC>atT	p.I663I	AP1G1_ENST00000569748.1_Silent_p.I663I|AP1G1_ENST00000423132.2_Silent_p.I666I|AP1G1_ENST00000564155.1_Silent_p.I88I|AP1G1_ENST00000393512.3_Silent_p.I666I|AP1G1_ENST00000433195.2_Silent_p.I686I	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	663					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CTGTAAGGTTGATGTCTCCCA	0.448																																						uc010cgg.2		NA																	0				ovary(2)	2						c.(1987-1989)ATC>ATT		adaptor-related protein complex 1, gamma 1							96.0	95.0	96.0					16																	71779057		2198	4300	6498	SO:0001819	synonymous_variant	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71779057G>A	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.1989C>T	16.37:g.71779057G>A						AP1G1_uc002fba.2_Silent_p.I666I|AP1G1_uc002fbb.2_Silent_p.I686I|AP1G1_uc002faz.2_Silent_p.I80I	p.I663I	NM_001128	NP_001119	O43747	AP1G1_HUMAN			19	2303	-		Ovarian(137;0.125)	663					O75709|O75842|Q9UG09|Q9Y3U4	Silent	SNP	ENST00000299980.4	37	c.1989C>T	CCDS32480.1																																																																																				0.448	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			4	58	0	0	0	0	4	58				
TUSC5	286753	broad.mit.edu	37	17	1183425	1183425	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:1183425T>C	ENST00000333813.3	+	1	469	c.130T>C	c.(130-132)Tcc>Ccc	p.S44P		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	44					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTGAATCTGTCCAAGACCCT	0.617																																						uc002fsi.1		NA																	0				skin(2)	2						c.(130-132)TCC>CCC		LOST1							68.0	74.0	72.0					17																	1183425		1948	4140	6088	SO:0001583	missense	286753				response to biotic stimulus	integral to membrane		g.chr17:1183425T>C	AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"""located at seventeen p thirteen point three 1"", ""interferon induced transmembrane protein domain containing 3"""	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.130T>C	17.37:g.1183425T>C	ENSP00000329548:p.Ser44Pro						p.S44P	NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	1	469	+			44					A6NMK4	Missense_Mutation	SNP	ENST00000333813.3	37	c.130T>C	CCDS42225.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.921549	0.52653	.	.	ENSG00000184811	ENST00000333813	T	0.76316	-1.01	5.38	4.25	0.50352	.	0.081357	0.50627	U	0.000105	T	0.73233	0.3561	M	0.66939	2.045	0.40687	D	0.982367	B	0.20887	0.049	B	0.19666	0.026	T	0.69628	-0.5094	10	0.54805	T	0.06	-9.854	8.0199	0.30404	0.0:0.1041:0.0:0.8959	.	44	Q8IXB3	TUSC5_HUMAN	P	44	ENSP00000329548:S44P	ENSP00000329548:S44P	S	+	1	0	TUSC5	1130175	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	2.125000	0.42016	0.845000	0.35118	0.438000	0.28831	TCC		0.617	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367		27	65	0	0	0	0	27	65				
POLR2A	5430	broad.mit.edu	37	17	7403976	7403976	+	Missense_Mutation	SNP	C	C	A	rs561896327		TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:7403976C>A	ENST00000322644.6	+	11	2089	c.1690C>A	c.(1690-1692)Ctg>Atg	p.L564M		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	564					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GATGAACCTCCTGATGTTCCT	0.542																																						uc002ghf.3		NA																	0				pancreas(1)	1						c.(1690-1692)CTG>ATG		DNA-directed RNA polymerase II A							85.0	82.0	83.0					17																	7403976		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7403976C>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.1690C>A	17.37:g.7403976C>A	ENSP00000314949:p.Leu564Met						p.L564M	NM_000937	NP_000928	P24928	RPB1_HUMAN			11	1924	+		Prostate(122;0.173)	564					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.1690C>A	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101045	0.56183	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.80653	-1.4	5.91	1.64	0.23874	RNA polymerase Rpb1, domain 3 (1);	0.000000	0.64402	D	0.000002	D	0.87908	0.6296	M	0.85859	2.78	0.80722	D	1	D	0.60575	0.988	D	0.65323	0.934	D	0.87326	0.2321	10	0.87932	D	0	-7.0038	9.9301	0.41517	0.0:0.7077:0.0:0.2923	.	564	P24928	RPB1_HUMAN	M	520;564	ENSP00000314949:L564M	ENSP00000314949:L564M	L	+	1	2	SLC35G6	7344700	0.948000	0.32251	0.971000	0.41717	0.967000	0.64934	1.357000	0.34090	0.381000	0.24851	0.650000	0.86243	CTG		0.542	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		12	41	1	0	7.04e-09	8.31e-09	12	41				
TP53	7157	broad.mit.edu	37	17	7578553	7578553	+	Splice_Site	SNP	T	T	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:7578553T>G	ENST00000269305.4	-	5	566	c.377A>C	c.(376-378)tAc>tCc	p.Y126S	TP53_ENST00000359597.4_Splice_Site_p.Y126S|TP53_ENST00000445888.2_Splice_Site_p.Y126S|TP53_ENST00000455263.2_Splice_Site_p.Y126S|TP53_ENST00000420246.2_Splice_Site_p.Y126S|TP53_ENST00000413465.2_Splice_Site_p.Y126S|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	126	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Y126_K132delYSPALNK(6)|p.Y126C(4)|p.Y126_N131delYSPALN(3)|p.Y126fs*44(2)|p.Y126S(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAGGGGAGTACTGTAGGAA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		30	Deletion - In frame(9)|Whole gene deletion(8)|Substitution - Missense(6)|Deletion - Frameshift(6)|Unknown(1)	p.Y126*(9)|p.0?(7)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.Y126C(4)|p.Y126D(3)|p.Y126_N131delYSPALN(3)|p.Y126S(2)|p.V73fs*9(1)|p.?(1)|p.Y126Y(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)|p.Y126fs*24(1)|p.Y126fs*18(1)	upper_aerodigestive_tract(6)|large_intestine(4)|central_nervous_system(4)|bone(4)|lung(3)|ovary(3)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(376-378)TAC>TCC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							43.0	43.0	43.0					17																	7578553		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578553T>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.376-1A>C	17.37:g.7578553T>G		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.Y126S|TP53_uc002gih.2_Missense_Mutation_p.Y126S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.Y126S|TP53_uc010cni.1_Missense_Mutation_p.Y126S|TP53_uc002gij.2_Missense_Mutation_p.Y126S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y33S|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.Y87S	p.Y126S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	571	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	126		Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.377A>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.568680	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.90483	3.12	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.999;1.0;0.971;0.999;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-28.2517	13.8301	0.63375	0.0:0.0:0.0:1.0	.	87;126;126;33;126;126;126	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	126;126;126;126;126;126;115;33;33;126;126	ENSP00000410739:Y126S;ENSP00000352610:Y126S;ENSP00000269305:Y126S;ENSP00000398846:Y126S;ENSP00000391127:Y126S;ENSP00000391478:Y126S;ENSP00000423862:Y33S;ENSP00000424104:Y126S;ENSP00000426252:Y126S	ENSP00000269305:Y126S	Y	-	2	0	TP53	7519278	1.000000	0.71417	0.997000	0.53966	0.932000	0.56968	7.958000	0.87877	2.206000	0.71126	0.533000	0.62120	TAC		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Missense_Mutation	11	14	0	0	0	0	11	14				
MYO18A	399687	broad.mit.edu	37	17	27417044	27417044	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:27417044C>G	ENST00000527372.1	-	37	5641	c.5461G>C	c.(5461-5463)Gaa>Caa	p.E1821Q	MYO18A_ENST00000531253.1_Missense_Mutation_p.E1821Q|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1821Q|MYO18A_ENST00000533112.1_Missense_Mutation_p.E1784Q|TIAF1_ENST00000408971.2_5'UTR	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1821					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ATCTTAGCTTCCTGCCTGCTC	0.577																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1		NA																	0					0						c.(5461-5463)GAA>CAA		myosin 18A isoform a							57.0	62.0	60.0					17																	27417044		2044	4175	6219	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27417044C>G	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.5461G>C	17.37:g.27417044C>G	ENSP00000437073:p.Glu1821Gln					MYO18A_uc010wbc.1_Missense_Mutation_p.E1354Q|MYO18A_uc002hds.2_Missense_Mutation_p.E1363Q|MYO18A_uc010csa.1_Missense_Mutation_p.E1784Q|MYO18A_uc002hdu.1_Missense_Mutation_p.E1821Q	p.E1821Q	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		37	5619	-			1821			Potential.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.5461G>C	CCDS45642.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.887689|4.887689	0.91814|0.91814	.|.	.|.	ENSG00000196535|ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428;ENST00000546105|ENST00000527859	D;D;D;D|.	0.90788|.	-1.63;-2.73;-1.63;-1.63|.	4.94|4.94	4.94|4.94	0.65067|0.65067	Myosin tail (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79317|0.79317	0.4425|0.4425	M|M	0.83384|0.83384	2.64|2.64	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.997;0.997;0.997;0.999|.	T|T	0.81256|0.81256	-0.1015|-0.1015	10|5	0.45353|.	T|.	0.12|.	.|.	18.14|18.14	0.89636|0.89636	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1424;1784;1821;1821|.	F8W6Y3;Q92614-3;Q92614-4;Q92614|.	.;.;.;MY18A_HUMAN|.	Q|S	1821;1784;1784;1821;1821;717;717;1424;102|83	ENSP00000346291:E1821Q;ENSP00000435932:E1784Q;ENSP00000434228:E1821Q;ENSP00000437073:E1821Q|.	ENSP00000346291:E1821Q|.	E|R	-|-	1|3	0|2	MYO18A|MYO18A	24441170|24441170	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.388000|7.388000	0.79795|0.79795	2.458000|2.458000	0.83093|0.83093	0.655000|0.655000	0.94253|0.94253	GAA|AGG		0.577	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		3	23	0	0	0	0	3	23				
GPR179	440435	broad.mit.edu	37	17	36483564	36483564	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:36483564G>A	ENST00000342292.4	-	11	5908	c.5888C>T	c.(5887-5889)aCt>aTt	p.T1963I	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1963					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W1960fs*10(1)|p.T1963N(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGCTGGGGCAGTGGTCTCCCA	0.547																																						uc002hpz.2		NA																	2	Substitution - Missense(1)|Deletion - Frameshift(1)		upper_aerodigestive_tract(1)|ovary(1)	ovary(3)	3						c.(5887-5889)ACT>ATT		GPR158-like 1 precursor							79.0	80.0	80.0					17																	36483564		1976	4154	6130	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36483564G>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5888C>T	17.37:g.36483564G>A	ENSP00000345060:p.Thr1963Ile						p.T1963I	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	5909	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1963			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342292.4	37	c.5888C>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	8.483	0.860283	0.17178	.	.	ENSG00000188888	ENST00000342292	T	0.50001	0.76	4.58	-5.15	0.02866	.	1.737130	0.03036	N	0.152740	T	0.33265	0.0857	L	0.31926	0.97	0.09310	N	1	B	0.18610	0.029	B	0.11329	0.006	T	0.14008	-1.0488	10	0.23302	T	0.38	4.3596	7.9817	0.30188	0.3027:0.2338:0.4635:0.0	.	1963	Q6PRD1	GP179_HUMAN	I	1963	ENSP00000345060:T1963I	ENSP00000345060:T1963I	T	-	2	0	GPR179	33737090	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.773000	0.04689	-1.018000	0.03363	-1.240000	0.01540	ACT		0.547	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			15	32	0	0	0	0	15	32				
CNTNAP1	8506	broad.mit.edu	37	17	40839831	40839831	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:40839831C>T	ENST00000264638.4	+	8	1355	c.1138C>T	c.(1138-1140)Cgt>Tgt	p.R380C	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	380					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TTTCCCACGCCGTGGCCGCCT	0.637																																						uc002iay.2		NA																	0		p.R380H(1)		ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8						c.(1138-1140)CGT>TGT		contactin associated protein 1 precursor							94.0	86.0	89.0					17																	40839831		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40839831C>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.1138C>T	17.37:g.40839831C>T	ENSP00000264638:p.Arg380Cys					CNTNAP1_uc010wgs.1_RNA	p.R380C	NM_003632	NP_003623	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	8	1354	+		Breast(137;0.000143)	380			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000264638.4	37	c.1138C>T	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919082	0.52546	.	.	ENSG00000108797	ENST00000264638	T	0.79653	-1.29	5.02	4.02	0.46733	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.101216	0.42420	D	0.000708	T	0.81894	0.4919	L	0.40543	1.245	0.42441	D	0.992714	D	0.76494	0.999	P	0.58391	0.838	T	0.80564	-0.1326	10	0.36615	T	0.2	.	13.3219	0.60438	0.302:0.698:0.0:0.0	.	380	P78357	CNTP1_HUMAN	C	380	ENSP00000264638:R380C	ENSP00000264638:R380C	R	+	1	0	CNTNAP1	38093357	0.996000	0.38824	0.167000	0.22817	0.441000	0.31987	2.884000	0.48562	1.035000	0.39972	0.655000	0.94253	CGT		0.637	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		4	65	0	0	0	0	4	65				
NXPH3	11248	broad.mit.edu	37	17	47656507	47656507	+	Missense_Mutation	SNP	G	G	T	rs538176101		TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:47656507G>T	ENST00000328741.5	+	2	966	c.604G>T	c.(604-606)Gac>Tac	p.D202Y	RP5-1029K10.4_ENST00000503624.1_RNA|NXPH3_ENST00000513748.1_Missense_Mutation_p.D202Y	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	202	V (Cys-rich).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					CTGCTCCCGAGACCACGCTCA	0.602																																						uc002ipa.2		NA																	0				pancreas(1)|skin(1)	2						c.(604-606)GAC>TAC		neurexophilin 3 precursor							81.0	79.0	79.0					17																	47656507		2203	4300	6503	SO:0001583	missense	11248				neuropeptide signaling pathway	extracellular region		g.chr17:47656507G>T	AF043468	CCDS11550.1	17q	2008-07-03				ENSG00000182575			8077	protein-coding gene	gene with protein product		604636				9570794	Standard	NM_007225		Approved	NPH3	uc002ipa.3	O95157		ENST00000328741.5:c.604G>T	17.37:g.47656507G>T	ENSP00000329295:p.Asp202Tyr					NXPH3_uc010wlw.1_Missense_Mutation_p.D202Y	p.D202Y	NM_007225	NP_009156	O95157	NXPH3_HUMAN			2	888	+	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)		202			V (Cys-rich).		Q8NDC3|Q8TBF6|Q9ULR1	Missense_Mutation	SNP	ENST00000328741.5	37	c.604G>T	CCDS11550.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421991	0.62622	.	.	ENSG00000182575	ENST00000328741;ENST00000513748	.	.	.	4.45	4.45	0.53987	.	0.225081	0.44483	D	0.000458	T	0.47948	0.1473	N	0.08118	0	0.41823	D	0.990032	D;D	0.76494	0.998;0.999	D;D	0.71184	0.942;0.972	T	0.54912	-0.8222	9	0.87932	D	0	-33.5587	7.5115	0.27577	0.0902:0.1701:0.7396:0.0	.	202;202	D6RGW2;O95157	.;NXPH3_HUMAN	Y	202	.	ENSP00000329295:D202Y	D	+	1	0	NXPH3	45011506	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	5.485000	0.66850	2.314000	0.78098	0.561000	0.74099	GAC		0.602	NXPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365143.1			20	73	1	0	8.28e-16	1e-15	20	73				
MPO	4353	broad.mit.edu	37	17	56349077	56349077	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:56349077C>T	ENST00000225275.3	-	11	2145	c.1969G>A	c.(1969-1971)Gtg>Atg	p.V657M	MPO_ENST00000340482.3_Missense_Mutation_p.V689M	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	657					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	AGTGGGCCCACGCGGCCTTTG	0.632																																						uc002ivu.1		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1969-1971)GTG>ATG		myeloperoxidase	Cefdinir(DB00535)						61.0	47.0	52.0					17																	56349077		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56349077C>T		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1969G>A	17.37:g.56349077C>T	ENSP00000225275:p.Val657Met						p.V657M	NM_000250	NP_000241	P05164	PERM_HUMAN			11	2146	-			657					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.1969G>A	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.438936	0.63067	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.70986	-0.53;-0.53	5.44	4.47	0.54385	.	0.177950	0.49305	D	0.000153	D	0.84719	0.5534	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86541	0.1828	10	0.62326	D	0.03	-27.3276	12.7041	0.57051	0.0:0.9213:0.0:0.0787	.	657	P05164	PERM_HUMAN	M	689;657	ENSP00000344419:V689M;ENSP00000225275:V657M	ENSP00000225275:V657M	V	-	1	0	MPO	53704076	1.000000	0.71417	0.959000	0.39883	0.103000	0.19146	4.797000	0.62503	2.561000	0.86390	0.563000	0.77884	GTG		0.632	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			15	27	0	0	0	0	15	27				
TUBB6	84617	broad.mit.edu	37	18	12310986	12310986	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr18:12310986G>A	ENST00000317702.5	+	3	445	c.211G>A	c.(211-213)Ggc>Agc	p.G71S	TUBB6_ENST00000590967.1_Missense_Mutation_p.G71S|TUBB6_ENST00000591208.1_Missense_Mutation_p.G71S|TUBB6_ENST00000591909.1_Missense_Mutation_p.G71S|TUBB6_ENST00000586653.1_Missense_Mutation_p.G71S|TUBB6_ENST00000592683.1_Missense_Mutation_p.G71S			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	71					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CTTAGAGCCAGGCACCATGGA	0.498																																						uc002kqw.2		NA																	0					0						c.(211-213)GGC>AGC		tubulin, beta 6							86.0	78.0	81.0					18																	12310986		2203	4300	6503	SO:0001583	missense	84617				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr18:12310986G>A	AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.211G>A	18.37:g.12310986G>A	ENSP00000318697:p.Gly71Ser					TUBB6_uc002kqv.2_5'UTR|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Intron|TUBB6_uc002kqy.2_Missense_Mutation_p.G71S	p.G71S	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN		READ - Rectum adenocarcinoma(1;0.0649)	3	256	+			71					B3KM76|Q9HA42	Missense_Mutation	SNP	ENST00000317702.5	37	c.211G>A	CCDS11858.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597030	0.87055	.	.	ENSG00000176014	ENST00000317702;ENST00000445717	T	0.69306	-0.39	4.82	4.82	0.62117	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	T	0.80243	0.4587	M	0.64404	1.975	0.80722	D	1	D	0.69078	0.997	D	0.77557	0.99	T	0.82141	-0.0604	10	0.87932	D	0	.	18.0629	0.89382	0.0:0.0:1.0:0.0	.	71	Q9BUF5	TBB6_HUMAN	S	71	ENSP00000318697:G71S	ENSP00000318697:G71S	G	+	1	0	TUBB6	12300986	1.000000	0.71417	0.959000	0.39883	0.997000	0.91878	9.195000	0.94971	2.661000	0.90470	0.655000	0.94253	GGC		0.498	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525		4	45	0	0	0	0	4	45				
CELF4	56853	broad.mit.edu	37	18	34853090	34853090	+	Missense_Mutation	SNP	C	C	A	rs150441111		TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr18:34853090C>A	ENST00000591282.1	-	7	837	c.838G>T	c.(838-840)Gcg>Tcg	p.A280S	CELF4_ENST00000603232.1_Missense_Mutation_p.A279S|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000361795.5_Missense_Mutation_p.A278S|CELF4_ENST00000412753.1_Missense_Mutation_p.A279S|CELF4_ENST00000588597.1_Missense_Mutation_p.A269S|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000334919.5_Missense_Mutation_p.A270S|CELF4_ENST00000420428.2_Missense_Mutation_p.A280S|CELF4_ENST00000591287.1_Missense_Mutation_p.A279S|CELF4_ENST00000601019.1_Missense_Mutation_p.A278S			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	280	Ala-rich.|Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CCGCCCTGCGCGACTGATGCC	0.647																																						uc002lae.2		NA																	0				ovary(2)	2						c.(838-840)GCG>TCG		bruno-like 4, RNA binding protein isoform 1							38.0	42.0	41.0					18																	34853090		2203	4300	6503	SO:0001583	missense	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34853090C>A	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.838G>T	18.37:g.34853090C>A	ENSP00000464794:p.Ala280Ser					CELF4_uc010dnd.1_Missense_Mutation_p.A278S|CELF4_uc002lag.2_Missense_Mutation_p.A270S|CELF4_uc002laf.2_Missense_Mutation_p.A275S|CELF4_uc002lai.2_Missense_Mutation_p.A265S|CELF4_uc002lah.1_Missense_Mutation_p.A5S|CELF4_uc002laj.1_Missense_Mutation_p.R115L	p.A280S	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			7	1234	-			280			Sufficient for RNA-binding and MSE- dependent splicing activity.|Ala-rich.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	c.838G>T	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115035	0.56505	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919;ENST00000361683	T;T	0.75154	-0.86;-0.91	5.07	5.07	0.68467	.	0.670459	0.16107	N	0.229297	T	0.71459	0.3342	L	0.43701	1.375	0.50313	D	0.99986	B;B;B;B;B;B	0.33413	0.051;0.228;0.119;0.411;0.022;0.014	B;B;B;B;B;B	0.36134	0.158;0.07;0.106;0.218;0.13;0.03	T	0.69187	-0.5211	10	0.36615	T	0.2	-4.7462	18.6382	0.91385	0.0:1.0:0.0:0.0	.	278;269;5;270;279;280	Q9BZC1-3;B4DHA8;A0PK06;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;.;CELF4_HUMAN	S	280;279;278;270;163	ENSP00000406823:A279S;ENSP00000335631:A270S	ENSP00000335631:A270S	A	-	1	0	CELF4	33107088	0.996000	0.38824	0.987000	0.45799	0.937000	0.57800	3.554000	0.53720	2.645000	0.89757	0.655000	0.94253	GCG		0.647	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		42	29	1	0	2.4e-13	2.87e-13	42	29				
SH3GL1	6455	broad.mit.edu	37	19	4366921	4366921	+	Splice_Site	SNP	A	A	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:4366921A>G	ENST00000269886.3	-	2	293		c.e2+1		SH3GL1_ENST00000417295.2_Splice_Site|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Splice_Site	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1						central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TTTCTTCCTCACCTTCTCCAT	0.597			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)	uc002maj.2		NA		Dom	yes		19	19p13.3	6455	T	SH3-domain GRB2-like 1 (EEN)			L	MLL		AL		0				ovary(2)	2						c.e2+1		SH3-domain GRB2-like 1							417.0	357.0	377.0					19																	4366921		2203	4300	6503	SO:0001630	splice_region_variant	6455				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding	g.chr19:4366921A>G		CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.114+1T>C	19.37:g.4366921A>G						SH3GL1_uc002mak.2_Splice_Site_p.K38_splice|SH3GL1_uc010xig.1_Splice_Site_p.K38_splice	p.K38_splice	NM_003025	NP_003016	Q99961	SH3G1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)	2	220	-								B4DRA1|E7EVZ4|M0QZV5|Q99668	Splice_Site	SNP	ENST00000269886.3	37	c.114_splice	CCDS32874.1	.	.	.	.	.	.	.	.	.	.	.	15.83	2.949645	0.53186	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	.	.	.	4.64	3.59	0.41128	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6823	0.40078	0.8441:0.0:0.0:0.1559	.	.	.	.	.	-1	.	.	.	-	.	.	SH3GL1	4317921	1.000000	0.71417	0.616000	0.29078	0.663000	0.39108	9.268000	0.95675	0.590000	0.29694	0.459000	0.35465	.		0.597	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1	NM_003025	Intron	32	229	0	0	0	0	32	229				
ELAVL3	1995	broad.mit.edu	37	19	11568882	11568882	+	Missense_Mutation	SNP	C	C	T	rs571838282		TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:11568882C>T	ENST00000359227.3	-	5	1131	c.707G>A	c.(706-708)cGt>cAt	p.R236H	ELAVL3_ENST00000438662.2_Missense_Mutation_p.R236H	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	236					cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCACCGGAAACGCTGGGTCTG	0.677													c|||	1	0.000199681	0.0008	0.0	5008	,	,		15897	0.0		0.0	False		,,,				2504	0.0					uc002mry.1		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(706-708)CGT>CAT		ELAV-like protein 3 isoform 1							39.0	42.0	41.0					19																	11568882		2203	4300	6503	SO:0001583	missense	1995				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	g.chr19:11568882C>T		CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.707G>A	19.37:g.11568882C>T	ENSP00000352162:p.Arg236His					ELAVL3_uc002mrx.1_Missense_Mutation_p.R236H	p.R236H	NM_001420	NP_001411	Q14576	ELAV3_HUMAN			5	1087	-			236					Q16135|Q96CL8|Q96QS9	Missense_Mutation	SNP	ENST00000359227.3	37	c.707G>A	CCDS32912.1	.	.	.	.	.	.	.	.	.	.	c	22.1	4.240724	0.79912	.	.	ENSG00000196361	ENST00000359227;ENST00000438662	T;T	0.09445	2.98;2.99	4.67	4.67	0.58626	.	0.051307	0.64402	D	0.000001	T	0.33760	0.0874	M	0.86028	2.79	0.54753	D	0.999984	D;D	0.65815	0.992;0.995	P;P	0.59056	0.775;0.851	T	0.35475	-0.9787	10	0.87932	D	0	.	16.326	0.82979	0.0:1.0:0.0:0.0	.	236;236	Q14576;Q14576-2	ELAV3_HUMAN;.	H	236	ENSP00000352162:R236H;ENSP00000390878:R236H	ENSP00000352162:R236H	R	-	2	0	ELAVL3	11429882	1.000000	0.71417	1.000000	0.80357	0.366000	0.29705	7.424000	0.80242	2.166000	0.68216	0.472000	0.43445	CGT		0.677	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458827.2	NM_001420		11	26	0	0	0	0	11	26				
IL27RA	9466	broad.mit.edu	37	19	14153306	14153306	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:14153306G>C	ENST00000263379.2	+	5	701	c.576G>C	c.(574-576)gaG>gaC	p.E192D		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	192	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCCCTGTTGAGATCCAAGATT	0.567											OREG0025302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(164;1849 1896 4443 37792 47834)	uc002mxx.2		NA																	0					0						c.(574-576)GAG>GAC		class I cytokine receptor precursor							105.0	111.0	109.0					19																	14153306		2203	4300	6503	SO:0001583	missense	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14153306G>C	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.576G>C	19.37:g.14153306G>C	ENSP00000263379:p.Glu192Asp		OREG0025302	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	692		p.E192D	NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN			5	999	+			192			Extracellular (Potential).|Fibronectin type-III 1.		A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	c.576G>C	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021591	0.35701	.	.	ENSG00000104998	ENST00000263379	T	0.62364	0.03	4.69	-1.78	0.07957	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.153579	0.30611	N	0.009247	T	0.48150	0.1484	L	0.34521	1.04	0.09310	N	1	D	0.63880	0.993	P	0.53689	0.732	T	0.44128	-0.9348	10	0.22109	T	0.4	-6.3496	0.8909	0.01254	0.2837:0.1593:0.3937:0.1632	.	192	Q6UWB1	I27RA_HUMAN	D	192	ENSP00000263379:E192D	ENSP00000263379:E192D	E	+	3	2	IL27RA	14014306	0.938000	0.31826	0.209000	0.23619	0.025000	0.11179	0.294000	0.19047	0.015000	0.14971	0.655000	0.94253	GAG		0.567	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		38	130	0	0	0	0	38	130				
ZNF208	7757	broad.mit.edu	37	19	22156075	22156075	+	Silent	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:22156075G>T	ENST00000397126.4	-	4	1909	c.1761C>A	c.(1759-1761)ggC>ggA	p.G587G	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	587					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAAAGCTTTGCCACATTCTT	0.353																																						uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(1459-1461)GGC>GGA		zinc finger protein 208							36.0	39.0	38.0					19																	22156075		2049	4220	6269	SO:0001819	synonymous_variant	7757							g.chr19:22156075G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1761C>A	19.37:g.22156075G>T						ZNF208_uc002nqo.1_Intron	p.G487G	NM_007153	NP_009084					5	1610	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.1461C>A	CCDS54240.1																																																																																				0.353	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		3	42	1	0	0.004672	0.0049494	3	42				
ZFP14	57677	broad.mit.edu	37	19	36831737	36831737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:36831737G>A	ENST00000270001.7	-	5	1106	c.991C>T	c.(991-993)Cag>Tag	p.Q331*		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	331					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)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TGAATTTTCTGATGTACTCTA	0.403																																						uc002odx.1		NA																	0				ovary(1)	1						c.(991-993)CAG>TAG		zinc finger protein 14-like							90.0	90.0	90.0					19																	36831737		2203	4300	6503	SO:0001587	stop_gained	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36831737G>A	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.991C>T	19.37:g.36831737G>A	ENSP00000270001:p.Gln331*					ZFP14_uc010xtd.1_Nonsense_Mutation_p.Q332*|ZFP14_uc010eex.1_Nonsense_Mutation_p.Q331*	p.Q331*	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN			4	1084	-	Esophageal squamous(110;0.162)		331			C2H2-type 6.		A7MD23	Nonsense_Mutation	SNP	ENST00000270001.7	37	c.991C>T	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	g	20.9	4.060127	0.76074	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	.	.	.	3.86	3.86	0.44501	.	0.000000	0.43110	D	0.000619	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	10.9804	0.47490	0.0:0.0:0.8124:0.1876	.	.	.	.	X	331	.	ENSP00000270001:Q331X	Q	-	1	0	ZFP14	41523577	0.760000	0.28428	1.000000	0.80357	0.996000	0.88848	1.103000	0.31062	2.141000	0.66446	0.549000	0.68633	CAG		0.403	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		31	177	0	0	0	0	31	177				
ZNF790	388536	broad.mit.edu	37	19	37311007	37311007	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:37311007G>A	ENST00000356725.4	-	5	359	c.239C>T	c.(238-240)tCg>tTg	p.S80L	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	80					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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTGACACCTCGACTGCATGTC	0.323																																						uc002oew.2		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(238-240)TCG>TTG		zinc finger protein 790							41.0	42.0	42.0					19																	37311007		2203	4299	6502	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37311007G>A	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.239C>T	19.37:g.37311007G>A	ENSP00000349161:p.Ser80Leu					uc002oev.1_Intron	p.S80L	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	358	-	Esophageal squamous(110;0.183)		80						Missense_Mutation	SNP	ENST00000356725.4	37	c.239C>T	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	G	8.727	0.915737	0.17907	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288	T;T;T	0.05717	3.4;6.14;5.78	3.08	1.99	0.26369	.	.	.	.	.	T	0.04770	0.0129	L	0.52905	1.665	0.09310	N	1	D	0.53619	0.961	B	0.32022	0.139	T	0.41448	-0.9508	9	0.30078	T	0.28	.	5.6174	0.17438	0.0:0.2224:0.5494:0.2281	.	80	Q6PG37	ZN790_HUMAN	L	80	ENSP00000349161:S80L;ENSP00000435944:S80L;ENSP00000433389:S80L	ENSP00000349161:S80L	S	-	2	0	ZNF790	42002847	0.000000	0.05858	0.003000	0.11579	0.023000	0.10783	-0.075000	0.11431	0.586000	0.29626	-0.494000	0.04653	TCG		0.323	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		22	125	0	0	0	0	22	125				
ZNF570	148268	broad.mit.edu	37	19	37976077	37976077	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:37976077G>A	ENST00000330173.1	+	5	2082	c.1553G>A	c.(1552-1554)aGa>aAa	p.R518K	ZNF570_ENST00000388801.3_Missense_Mutation_p.R315K|ZNF570_ENST00000586475.1_Missense_Mutation_p.R574K|CTD-2086O20.3_ENST00000591976.1_lincRNA	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	518					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATCACCAGAGAATTCACATT	0.423																																						uc002ogk.1		NA																	0				ovary(1)	1						c.(1552-1554)AGA>AAA		zinc finger protein 570							100.0	102.0	101.0					19																	37976077		2203	4300	6503	SO:0001583	missense	148268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37976077G>A	AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.1553G>A	19.37:g.37976077G>A	ENSP00000331540:p.Arg518Lys					ZNF570_uc010efl.1_Missense_Mutation_p.R574K|ZNF570_uc010xtr.1_Missense_Mutation_p.R315K	p.R518K	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	2082	+			518			C2H2-type 11.		A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	37	c.1553G>A	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739645	0.30774	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	T;T	0.05513	3.43;3.43	4.55	0.963	0.19649	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.504108	0.16782	N	0.199755	T	0.03477	0.0100	N	0.11698	0.16	0.25568	N	0.986924	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.40232	-0.9574	10	0.39692	T	0.17	.	7.3762	0.26829	0.3537:0.0:0.6463:0.0	.	315;518	B4DMP1;Q96NI8	.;ZN570_HUMAN	K	518;315	ENSP00000331540:R518K;ENSP00000373453:R315K	ENSP00000331540:R518K	R	+	2	0	ZNF570	42667917	0.861000	0.29849	1.000000	0.80357	0.997000	0.91878	0.567000	0.23608	0.484000	0.27630	0.563000	0.77884	AGA		0.423	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694		17	138	0	0	0	0	17	138				
FCGBP	8857	broad.mit.edu	37	19	40364231	40364231	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:40364231C>A	ENST00000221347.6	-	31	14418	c.14411G>T	c.(14410-14412)gGc>gTc	p.G4804V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4804						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAAGACCTCGCCCAGTGGGTA	0.657																																						uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(14410-14412)GGC>GTC		Fc fragment of IgG binding protein precursor							38.0	40.0	39.0					19																	40364231		2202	4299	6501	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40364231C>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14411G>T	19.37:g.40364231C>A	ENSP00000221347:p.Gly4804Val						p.G4804V	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		31	14419	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4804					O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.14411G>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	8.787	0.929631	0.18131	.	.	ENSG00000090920	ENST00000221347	T	0.10960	2.82	4.86	3.82	0.43975	.	0.148943	0.44483	U	0.000458	T	0.39009	0.1062	H	0.95504	3.68	0.38351	D	0.944335	D	0.69078	0.997	D	0.70016	0.967	T	0.47812	-0.9088	10	0.56958	D	0.05	.	6.9511	0.24546	0.0:0.7265:0.0:0.2735	.	4804	Q9Y6R7	FCGBP_HUMAN	V	4804	ENSP00000221347:G4804V	ENSP00000221347:G4804V	G	-	2	0	FCGBP	45056071	0.022000	0.18835	0.148000	0.22405	0.004000	0.04260	2.730000	0.47335	1.186000	0.42985	0.313000	0.20887	GGC		0.657	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		31	118	1	0	2.48e-08	2.91e-08	31	118				
PSG7	5676	broad.mit.edu	37	19	43430101	43430101	+	RNA	SNP	G	G	A	rs200190947		TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:43430101G>A	ENST00000406070.2	-	0	1163				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				GTTAGAGTCCGCAAAGCAGGA	0.448																																						uc002ovl.3		NA																	0					0						c.(1066-1068)GCG>GTG		pregnancy specific beta-1-glycoprotein 7		G	VAL/ALA,VAL/ALA	1,4401		0,1,2200	162.0	171.0	168.0		701,1067	0.2	0.0	19		168	3,8597		0,3,4297	no	missense,missense	PSG7	NM_001206650.1,NM_002783.2	64,64	0,4,6497	AA,AG,GG		0.0349,0.0227,0.0308	,	234/298,356/420	43430101	4,12998	2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43430101G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430101G>A						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Missense_Mutation_p.A269V|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Missense_Mutation_p.A82V|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.A269V|PSG7_uc010xwl.1_Missense_Mutation_p.A234V	p.A356V	NM_002783	NP_002774	Q13046	PSG7_HUMAN			6	1169	-		Prostate(69;0.00682)	356			Ig-like C2-type 3.		Q15232	Missense_Mutation	SNP	ENST00000406070.2	37	c.1067C>T																																																																																					0.448	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		4	134	0	0	0	0	4	134				
ARHGAP35	2909	broad.mit.edu	37	19	47423337	47423337	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:47423337G>T	ENST00000404338.3	+	1	1405	c.1405G>T	c.(1405-1407)Gag>Tag	p.E469*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	469	FF 3.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CCAGTGGCTGGAGGAATCTGT	0.378																																						uc010ekv.2		NA																	0				central_nervous_system(1)	1						c.(1405-1407)GAG>TAG		glucocorticoid receptor DNA binding factor 1							31.0	31.0	31.0					19																	47423337		1813	4075	5888	SO:0001587	stop_gained	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47423337G>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1405G>T	19.37:g.47423337G>T	ENSP00000385720:p.Glu469*						p.E469*	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	1405	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	469			FF 3.		A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	ENST00000404338.3	37	c.1405G>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	37	6.130295	0.97310	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	.	.	.	5.95	5.95	0.96441	.	0.146153	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-27.7907	19.1646	0.93551	0.0:0.0:1.0:0.0	.	.	.	.	X	469	.	ENSP00000324820:E469X	E	+	1	0	ARHGAP35	52115177	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.005000	0.57075	2.824000	0.97209	0.655000	0.94253	GAG		0.378	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		13	5	1	0	0.00010058	0.00011216	13	5				
ZNF671	79891	broad.mit.edu	37	19	58238851	58238851	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:58238851G>A	ENST00000317398.6	-	1	141	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	ZNF671_ENST00000596939.1_Missense_Mutation_p.R16W|ZNF671_ENST00000594803.1_5'UTR|ZNF671_ENST00000335820.3_De_novo_Start_InFrame|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	16					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGGCACTTCCGTCCCTGCAGA	0.672																																						uc002qpz.3		NA																	0				ovary(1)	1						c.(46-48)CGG>TGG		zinc finger protein 671							49.0	50.0	50.0					19																	58238851		2203	4300	6503	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58238851G>A		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.46C>T	19.37:g.58238851G>A	ENSP00000321848:p.Arg16Trp					ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Translation_Start_Site|ZNF671_uc010yhf.1_Translation_Start_Site	p.R16W	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	1	145	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	16					A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.46C>T	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	G	9.832	1.188693	0.21954	.	.	ENSG00000083814	ENST00000317398	T	0.06371	3.31	1.62	-2.19	0.07015	.	.	.	.	.	T	0.03220	0.0094	N	0.08118	0	0.20307	N	0.999913	B	0.02656	0.0	B	0.01281	0.0	T	0.40887	-0.9539	9	0.62326	D	0.03	.	6.945	0.24514	0.4513:0.0:0.5487:0.0	.	16	Q8TAW3	ZN671_HUMAN	W	16	ENSP00000321848:R16W	ENSP00000321848:R16W	R	-	1	2	ZNF671	62930663	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.189000	0.09629	-1.051000	0.03226	-1.595000	0.00837	CGG		0.672	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		10	17	0	0	0	0	10	17				
HADHA	3030	broad.mit.edu	37	2	26455030	26455030	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr2:26455030T>C	ENST00000380649.3	-	6	700	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	HADHA_ENST00000457468.2_Missense_Mutation_p.M104V|HADHA_ENST00000461025.1_5'Flank	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	191					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACTCACCATTTTGGGCAGC	0.398																																						uc002rgy.2		NA																	0				ovary(1)	1						c.(571-573)ATG>GTG		mitochondrial trifunctional protein, alpha	NADH(DB00157)						114.0	102.0	106.0					2																	26455030		2203	4300	6503	SO:0001583	missense	3030				fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding	g.chr2:26455030T>C	D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"""gastrin-binding protein"", ""long-chain-3-hydroxyacyl-CoA dehydrogenase"", ""long-chain 2-enoyl-CoA hydratase"", ""mitochondrial trifunctional protein, alpha subunit"""	600890	"""hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"""			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.571A>G	2.37:g.26455030T>C	ENSP00000370023:p.Met191Val					HADHA_uc010yks.1_Missense_Mutation_p.M104V|HADHA_uc010ykt.1_Missense_Mutation_p.M104V	p.M191V	NM_000182	NP_000173	P40939	ECHA_HUMAN			6	701	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		191					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	c.571A>G	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.972581	0.74246	.	.	ENSG00000084754	ENST00000380649;ENST00000457468	T;T	0.70986	-0.53;-0.53	5.71	4.53	0.55603	Crotonase, core (1);	0.034288	0.85682	D	0.000000	T	0.59972	0.2233	L	0.31157	0.91	0.58432	D	0.999999	B;B;B	0.15930	0.006;0.015;0.015	B;B;B	0.24006	0.05;0.03;0.03	T	0.56763	-0.7925	10	0.66056	D	0.02	-29.4079	11.1193	0.48279	0.0:0.0:0.155:0.845	.	104;191;191	B4DYP2;E9KL44;P40939	.;.;ECHA_HUMAN	V	191;104	ENSP00000370023:M191V;ENSP00000405344:M104V	ENSP00000370023:M191V	M	-	1	0	HADHA	26308534	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.783000	0.62403	0.952000	0.37798	0.482000	0.46254	ATG		0.398	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182		13	31	0	0	0	0	13	31				
KIF5C	3800	broad.mit.edu	37	2	149850992	149850992	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr2:149850992A>G	ENST00000435030.1	+	17	2331	c.1963A>G	c.(1963-1965)Agg>Ggg	p.R655G	KIF5C_ENST00000414838.2_Missense_Mutation_p.R560G|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Missense_Mutation_p.R423G			O60282	KIF5C_HUMAN	kinesin family member 5C	655					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ACAGAAGAGGAGGCAGCTAGA	0.493																																						uc010zbu.1		NA																	0				skin(1)	1						c.(1963-1965)AGG>GGG		kinesin family member 5C							37.0	41.0	40.0					2																	149850992		1984	4162	6146	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149850992A>G	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1963A>G	2.37:g.149850992A>G	ENSP00000393379:p.Arg655Gly					KIF5C_uc002tws.1_RNA|KIF5C_uc002twt.2_Missense_Mutation_p.R207G	p.R655G	NM_004522	NP_004513	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	17	2331	+			655					O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.1963A>G		.	.	.	.	.	.	.	.	.	.	A	19.77	3.888697	0.72524	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	D;D;D	0.86956	-2.19;-2.19;-2.19	5.31	1.44	0.22558	.	0.105048	0.64402	D	0.000007	D	0.92427	0.7596	.	.	.	0.44523	D	0.997473	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91041	0.4871	8	.	.	.	.	12.957	0.58434	0.5977:0.4023:0.0:0.0	.	655;221	O60282;Q3LIE3	KIF5C_HUMAN;.	G	655;560;558;423	ENSP00000393379:R655G;ENSP00000410115:R560G;ENSP00000380560:R423G	.	R	+	1	2	KIF5C	149559238	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.664000	0.46783	0.086000	0.17137	0.528000	0.53228	AGG		0.493	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		2	7	0	0	0	0	2	7				
RIF1	55183	broad.mit.edu	37	2	152289598	152289598	+	Silent	SNP	A	A	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr2:152289598A>G	ENST00000243326.5	+	9	1416	c.933A>G	c.(931-933)ctA>ctG	p.L311L	RIF1_ENST00000428287.2_Silent_p.L311L|RIF1_ENST00000453091.2_Silent_p.L311L|RIF1_ENST00000433166.2_Silent_p.L280L|RIF1_ENST00000430328.2_Silent_p.L311L|RIF1_ENST00000444746.2_Silent_p.L311L			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAGATATACTATGTAGTGCAA	0.358																																						uc002txm.2		NA																	0				ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(931-933)CTA>CTG		RAP1 interacting factor 1							90.0	88.0	88.0					2																	152289598		2203	4300	6503	SO:0001819	synonymous_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152289598A>G	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.933A>G	2.37:g.152289598A>G						RIF1_uc002txl.2_Silent_p.L311L|RIF1_uc010fnv.1_Silent_p.L275L|RIF1_uc002txn.2_Silent_p.L311L|RIF1_uc002txo.2_Silent_p.L311L|RIF1_uc010zby.1_RNA	p.L311L	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	10	1063	+			311					A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	c.933A>G	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	9.619	1.133388	0.21041	.	.	ENSG00000080345	ENST00000414861	.	.	.	5.65	-8.57	0.00900	.	.	.	.	.	T	0.35913	0.0948	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42310	-0.9459	4	.	.	.	-9.2737	3.7224	0.08462	0.1958:0.0889:0.4406:0.2747	.	.	.	.	V	303	.	.	M	+	1	0	RIF1	151997844	0.681000	0.27614	0.876000	0.34364	0.995000	0.86356	-0.199000	0.09491	-1.460000	0.01911	0.528000	0.53228	ATG		0.358	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			8	32	0	0	0	0	8	32				
NEB	4703	broad.mit.edu	37	2	152363454	152363454	+	Missense_Mutation	SNP	C	C	T	rs369514998		TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr2:152363454C>T	ENST00000172853.10	-	135	18569	c.18422G>A	c.(18421-18423)cGt>cAt	p.R6141H	NEB_ENST00000498015.2_5'UTR|NEB_ENST00000604864.1_Missense_Mutation_p.R7842H|NEB_ENST00000603639.1_Missense_Mutation_p.R7842H|NEB_ENST00000397345.3_Missense_Mutation_p.R7842H|NEB_ENST00000509223.2_De_novo_Start_OutOfFrame|NEB_ENST00000409198.1_Missense_Mutation_p.R6141H|NEB_ENST00000427231.2_Missense_Mutation_p.R7842H			P20929	NEBU_HUMAN	nebulin	6141					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTTTTACACGCAGTATTTC	0.318																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(18421-18423)CGT>CAT		nebulin isoform 3		C	HIS/ARG,HIS/ARG,HIS/ARG	1,3601		0,1,1800	124.0	118.0	120.0		23525,23525,18422	6.1	1.0	2		120	0,8136		0,0,4068	no	missense,missense,missense	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	29,29,29	0,1,5868	TT,TC,CC		0.0,0.0278,0.0085	probably-damaging,probably-damaging,probably-damaging	7842/8526,7842/8526,6141/6670	152363454	1,11737	1801	4068	5869	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152363454C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.18422G>A	2.37:g.152363454C>T	ENSP00000172853:p.Arg6141His					NEB_uc002txr.2_Missense_Mutation_p.R2564H|RIF1_uc002txp.2_Intron|NEB_uc010zca.1_5'Flank|NEB_uc010zcb.1_Translation_Start_Site|NEB_uc002txt.3_Missense_Mutation_p.R646H	p.R6141H	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	135	18613	-			6141			Nebulin 168.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.18422G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.169991|4.169991	0.78452|0.78452	2.78E-4|2.78E-4	0.0|0.0	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000424585|ENST00000397337	T;T;T;T;T;T|.	0.42131|.	0.98;0.98;0.98;0.98;0.98;0.98|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84392|0.84392	0.5462|0.5462	M|M	0.87682|0.87682	2.9|2.9	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.97110|.	1.0;0.999;0.98|.	D|D	0.85087|0.85087	0.0949|0.0949	10|5	0.32370|.	T|.	0.25|.	.|.	19.609|19.609	0.95594|0.95594	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	6141;7842;2572|.	P20929;F8WCP0;Q14215|.	NEBU_HUMAN;.;.|.	H|M	6141;7842;7842;2190;2572;6141;69|38	ENSP00000386259:R6141H;ENSP00000380505:R7842H;ENSP00000416578:R7842H;ENSP00000410961:R2572H;ENSP00000172853:R6141H;ENSP00000404876:R69H|.	ENSP00000172853:R6141H|.	R|V	-|-	2|1	0|0	NEB|NEB	152071700|152071700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.421000|6.421000	0.73353|0.73353	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.318	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		24	54	0	0	0	0	24	54				
ALPPL2	251	broad.mit.edu	37	2	233274348	233274348	+	Silent	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr2:233274348C>T	ENST00000295453.3	+	11	1417	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	455					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	CAGGCGAGGACGTGGCGGTGT	0.662																																						uc002vss.3		NA																	0				skin(1)	1						c.(1363-1365)GAC>GAT		placental-like alkaline phosphatase	Amifostine(DB01143)|Levamisole(DB00848)						27.0	29.0	28.0					2																	233274348		2196	4300	6496	SO:0001819	synonymous_variant	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233274348C>T	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1365C>T	2.37:g.233274348C>T							p.D455D	NM_031313	NP_112603	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	11	1418	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	455					A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	c.1365C>T	CCDS2491.1																																																																																				0.662	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		5	18	0	0	0	0	5	18				
SCP2D1	140856	broad.mit.edu	37	20	18794599	18794599	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr20:18794599T>A	ENST00000377428.2	+	1	230	c.140T>A	c.(139-141)gTg>gAg	p.V47E	C20orf78_ENST00000463425.1_5'Flank|C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1	Q9UJQ7	SCP2D_HUMAN	SCP2 sterol-binding domain containing 1	47	SCP2.																AGCTTCCCAGTGTTTCAGGAC	0.507																																						uc002wrk.2		NA																	0				skin(3)	3						c.(139-141)GTG>GAG		hypothetical protein LOC140856							106.0	95.0	99.0					20																	18794599		2203	4300	6503	SO:0001583	missense	140856						sterol binding	g.chr20:18794599T>A	AL035563	CCDS13139.1	20p11.23	2012-10-29	2012-10-29	2012-10-29	ENSG00000132631	ENSG00000132631			16211	protein-coding gene	gene with protein product	"""sterol carrier protein 2-like protein"""		"""chromosome 20 open reading frame 79"""	C20orf79		16501878	Standard	NM_178483		Approved	dJ1068E13.2, HSD22	uc002wrk.3	Q9UJQ7	OTTHUMG00000031983	ENST00000377428.2:c.140T>A	20.37:g.18794599T>A	ENSP00000366645:p.Val47Glu					uc002wrj.1_Intron	p.V47E	NM_178483	NP_848578	Q9UJQ7	CT079_HUMAN			1	230	+			47			SCP2.		Q548A4	Missense_Mutation	SNP	ENST00000377428.2	37	c.140T>A	CCDS13139.1	.	.	.	.	.	.	.	.	.	.	T	13.82	2.350203	0.41599	.	.	ENSG00000132631	ENST00000377428	T	0.25579	1.79	5.85	5.85	0.93711	SCP2 sterol-binding domain (1);	0.122215	0.36972	N	0.002305	T	0.52092	0.1713	M	0.77712	2.385	0.48395	D	0.999644	D	0.76494	0.999	D	0.74023	0.982	T	0.56637	-0.7946	10	0.87932	D	0	-19.3935	14.1913	0.65639	0.0:0.0:0.0:1.0	.	47	Q9UJQ7	CT079_HUMAN	E	47	ENSP00000366645:V47E	ENSP00000366645:V47E	V	+	2	0	C20orf79	18742599	1.000000	0.71417	0.125000	0.21846	0.003000	0.03518	5.708000	0.68377	2.239000	0.73571	0.383000	0.25322	GTG		0.507	SCP2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078193.1	NM_178483		22	40	0	0	0	0	22	40				
NFS1	9054	broad.mit.edu	37	20	34285652	34285652	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr20:34285652T>C	ENST00000374092.4	-	3	348	c.278A>G	c.(277-279)cAt>cGt	p.H93R	ROMO1_ENST00000374077.3_5'Flank|NFS1_ENST00000397425.1_Missense_Mutation_p.H33R|ROMO1_ENST00000374078.1_5'Flank|NFS1_ENST00000306750.3_Missense_Mutation_p.H93R|NFS1_ENST00000541387.1_Missense_Mutation_p.H93R|ROMO1_ENST00000397416.1_5'Flank|NFS1_ENST00000374085.1_Missense_Mutation_p.H33R|ROMO1_ENST00000374072.1_5'Flank|NFS1_ENST00000540053.1_5'UTR|ROMO1_ENST00000336695.4_5'Flank	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	93					cysteine metabolic process (GO:0006534)|iron incorporation into metallo-sulfur cluster (GO:0018283)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|protein complex assembly (GO:0006461)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine desulfurase activity (GO:0031071)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)	GCCATAAGCATGTGTCCGGGA	0.527																																						uc002xdw.1		NA																	0				ovary(1)|skin(1)	2						c.(277-279)CAT>CGT		NFS1 nitrogen fixation 1 precursor	L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						111.0	101.0	104.0					20																	34285652		2203	4300	6503	SO:0001583	missense	9054				cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr20:34285652T>C	AF097025	CCDS13262.1, CCDS56185.1	20q11.22	2013-08-06	2013-08-06		ENSG00000244005	ENSG00000244005	2.8.1.7		15910	protein-coding gene	gene with protein product		603485	"""nitrogen fixation 1 (S. cerevisiae, homolog)"", ""NFS1 nitrogen fixation 1 homolog (S. cerevisiae)"""			9885568, 16847322	Standard	NM_021100		Approved	NifS, IscS	uc002xdw.2	Q9Y697	OTTHUMG00000032361	ENST00000374092.4:c.278A>G	20.37:g.34285652T>C	ENSP00000363205:p.His93Arg					NFS1_uc002xdt.1_Missense_Mutation_p.H33R|NFS1_uc002xdu.1_Missense_Mutation_p.H33R|NFS1_uc002xdv.1_RNA|NFS1_uc010zvk.1_5'UTR|NFS1_uc010zvl.1_Missense_Mutation_p.H93R|NFS1_uc002xdx.2_Missense_Mutation_p.H93R|ROMO1_uc002xdy.2_5'Flank|ROMO1_uc010gfm.2_5'Flank	p.H93R	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0886)		3	342	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		93					B3KMA5|B4DXK9|E1P5R8|F5GYK5|Q6P0L8|Q9NTZ5|Q9Y481	Missense_Mutation	SNP	ENST00000374092.4	37	c.278A>G	CCDS13262.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.041656	0.93685	.	.	ENSG00000244005	ENST00000374092;ENST00000374085;ENST00000397425;ENST00000541387;ENST00000537772;ENST00000419569;ENST00000306750	D;D;D;T;D;D	0.88664	-2.41;-2.41;-2.41;1.27;-2.41;-2.41	5.75	5.75	0.90469	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.97726	0.9254	H	0.99982	5.21	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99609	1.0980	10	0.87932	D	0	-7.4592	16.0397	0.80654	0.0:0.0:0.0:1.0	.	93;93;93	F5GYK5;Q8WV90;Q9Y697	.;.;NFS1_HUMAN	R	93;33;33;93;93;33;93	ENSP00000363205:H93R;ENSP00000363198:H33R;ENSP00000380570:H33R;ENSP00000440897:H93R;ENSP00000393482:H33R;ENSP00000304740:H93R	ENSP00000304740:H93R	H	-	2	0	NFS1	33749066	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.894000	0.87336	2.194000	0.70268	0.482000	0.46254	CAT		0.527	NFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078936.4	NM_021100		8	43	0	0	0	0	8	43				
SLC2A10	81031	broad.mit.edu	37	20	45353864	45353864	+	Silent	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr20:45353864G>T	ENST00000359271.2	+	2	439	c.189G>T	c.(187-189)ctG>ctT	p.L63L		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	63					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TCGCCTCCCTGGTTGGTGGCT	0.632																																						uc002xsl.2		NA																	0				ovary(1)	1						c.(187-189)CTG>CTT		solute carrier family 2 member 10							54.0	53.0	54.0					20																	45353864		2203	4300	6503	SO:0001819	synonymous_variant	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45353864G>T	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.189G>T	20.37:g.45353864G>T							p.L63L	NM_030777	NP_110404	O95528	GTR10_HUMAN			2	286	+		Myeloproliferative disorder(115;0.0122)	63			Helical; Name=2; (Potential).		A8K4J6|Q3MIX5|Q9H4I6	Silent	SNP	ENST00000359271.2	37	c.189G>T	CCDS13402.1																																																																																				0.632	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2			15	41	1	0	6.32e-08	7.31e-08	15	41				
ZNF512B	57473	broad.mit.edu	37	20	62631012	62631012	+	Intron	SNP	A	A	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr20:62631012A>C	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.H308P			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AACCCTCATCACCCGCCAGCC	0.567																																						uc002yho.2		NA																	0				ovary(2)	2						c.(922-924)CAC>CCC		PRP6 pre-mRNA processing factor 6 homolog							96.0	82.0	86.0					20																	62631012		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62631012A>C	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-31704T>G	20.37:g.62631012A>C						PRPF6_uc002yhp.2_Missense_Mutation_p.H308P	p.H308P	NM_012469	NP_036601	O94906	PRP6_HUMAN			8	1091	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		308					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.923A>C	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.578958	0.86645	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.32988	1.43;1.43	5.54	5.54	0.83059	Tetratricopeptide-like helical (1);	0.043393	0.85682	D	0.000000	T	0.65260	0.2674	M	0.93638	3.44	0.80722	D	1	D;P	0.57257	0.979;0.742	D;P	0.67382	0.951;0.724	T	0.75548	-0.3279	10	0.72032	D	0.01	.	15.7323	0.77817	1.0:0.0:0.0:0.0	.	308;308	O94906-2;O94906	.;PRP6_HUMAN	P	308	ENSP00000266079:H308P;ENSP00000446216:H308P	ENSP00000266079:H308P	H	+	2	0	PRPF6	62101456	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	8.664000	0.91139	2.118000	0.64928	0.529000	0.55759	CAC		0.567	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		6	60	0	0	0	0	6	60				
TPTE	7179	broad.mit.edu	37	21	11012916	11012916	+	Splice_Site	SNP	C	C	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr21:11012916C>A	ENST00000415664.2	-	8	1004		c.e8+1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAAATTTTACCTAGCTTTTT	0.299																																						uc002yis.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.e9+1		Homo sapiens putative tyrosine phosphatase mRNA, complete cds.																																				SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:11012916C>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000415664.2:c.2332+1G>T	21.37:g.11012916C>A										P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	9		-								B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000415664.2	37	c.1704_splice																																																																																					0.299	TPTE-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000340030.1		Intron	10	17	1	0	0.000673444	0.000727062	10	17				
ADAMTS5	11096	broad.mit.edu	37	21	28302210	28302210	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr21:28302210C>G	ENST00000284987.5	-	7	2341	c.2220G>C	c.(2218-2220)aaG>aaC	p.K740N	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	740	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						ATTACCTTTTCTTATTAAAGG	0.383																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(2218-2220)AAG>AAC		ADAM metallopeptidase with thrombospondin type 1							92.0	88.0	89.0					21																	28302210		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28302210C>G	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2220G>C	21.37:g.28302210C>G	ENSP00000284987:p.Lys740Asn						p.K740N	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			7	2949	-			740			Spacer.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.2220G>C	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441645	0.63067	.	.	ENSG00000154736	ENST00000284987	T	0.54071	0.59	5.97	-0.142	0.13448	ADAM-TS Spacer 1 (1);	0.046228	0.85682	D	0.000000	T	0.56572	0.1994	L	0.59436	1.845	0.48975	D	0.999739	D	0.58268	0.982	P	0.59825	0.864	T	0.53620	-0.8413	10	0.56958	D	0.05	.	5.4739	0.16686	0.1276:0.357:0.0:0.5154	.	740	Q9UNA0	ATS5_HUMAN	N	740	ENSP00000284987:K740N	ENSP00000284987:K740N	K	-	3	2	ADAMTS5	27224081	0.951000	0.32395	0.998000	0.56505	0.980000	0.70556	0.057000	0.14279	-0.035000	0.13691	-0.302000	0.09304	AAG		0.383	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			5	69	0	0	0	0	5	69				
LGALS1	3956	broad.mit.edu	37	22	38075659	38075659	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr22:38075659G>T	ENST00000215909.5	+	4	406	c.311G>T	c.(310-312)gGa>gTa	p.G104V	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	104	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|cellular response to glucose stimulus (GO:0071333)|cellular response to organic cyclic compound (GO:0071407)|multicellular organismal response to stress (GO:0033555)|myoblast differentiation (GO:0045445)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of neuron projection development (GO:0010977)|plasma cell differentiation (GO:0002317)|positive regulation of erythrocyte aggregation (GO:0034120)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	galactoside binding (GO:0016936)|lactose binding (GO:0030395)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					CTGCCAGATGGATACGAATTC	0.562																																					Pancreas(23;406 890 14304 26016)	uc003atn.2		NA																	0					0						c.(310-312)GGA>GTA		galectin-1							138.0	100.0	113.0					22																	38075659		2203	4300	6503	SO:0001583	missense	3956				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity	g.chr22:38075659G>T		CCDS13954.1	22q13.1	2014-01-30	2008-07-25		ENSG00000100097	ENSG00000100097		"""Lectins, galactoside-binding"", ""Endogenous ligands"""	6561	protein-coding gene	gene with protein product	"""galectin 1"""	150570				1988031, 12271131	Standard	NM_002305		Approved	GBP	uc003atn.3	P09382	OTTHUMG00000150661	ENST00000215909.5:c.311G>T	22.37:g.38075659G>T	ENSP00000215909:p.Gly104Val						p.G104V	NM_002305	NP_002296	P09382	LEG1_HUMAN			4	408	+	Melanoma(58;0.0574)		104			Galectin.		B2R5E8|Q9UDK5	Missense_Mutation	SNP	ENST00000215909.5	37	c.311G>T	CCDS13954.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338297	0.60963	.	.	ENSG00000100097	ENST00000215909	T	0.05382	3.45	6.08	5.07	0.68467	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.107907	0.64402	D	0.000009	T	0.17831	0.0428	L	0.55103	1.725	0.80722	D	1	D	0.64830	0.994	P	0.61940	0.896	T	0.00529	-1.1687	10	0.44086	T	0.13	-3.0364	14.0499	0.64730	0.0724:0.0:0.9276:0.0	.	104	P09382	LEG1_HUMAN	V	104	ENSP00000215909:G104V	ENSP00000215909:G104V	G	+	2	0	LGALS1	36405605	0.994000	0.37717	0.218000	0.23776	0.341000	0.28922	2.676000	0.46883	1.593000	0.50029	0.655000	0.94253	GGA		0.562	LGALS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319482.1	NM_002305		18	82	1	0	2.58e-16	3.15e-16	18	82				
ATXN10	25814	broad.mit.edu	37	22	46088932	46088932	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr22:46088932G>A	ENST00000252934.5	+	3	630	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	ATXN10_ENST00000381061.4_Missense_Mutation_p.R58Q|ATXN10_ENST00000498009.1_3'UTR	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	122					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CGTGAACTGCGAGTGGAACAG	0.338																																						uc003bgm.1		NA																	0				ovary(1)|kidney(1)	2						c.(364-366)CGA>CAA		ataxin 10							155.0	149.0	151.0					22																	46088932		2203	4300	6503	SO:0001583	missense	25814				cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm		g.chr22:46088932G>A	AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"""Ataxins"""	10549	protein-coding gene	gene with protein product		611150	"""spinocerebellar ataxia 10"""	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.365G>A	22.37:g.46088932G>A	ENSP00000252934:p.Arg122Gln					ATXN10_uc011aqt.1_Missense_Mutation_p.R58Q|ATXN10_uc003bgn.1_5'UTR	p.R122Q	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)	3	622	+		Ovarian(80;0.00973)|all_neural(38;0.0417)	122					A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Missense_Mutation	SNP	ENST00000252934.5	37	c.365G>A	CCDS14070.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630992	0.46944	.	.	ENSG00000130638	ENST00000381061;ENST00000252934;ENST00000396011	T;T	0.48836	0.8;0.8	5.69	3.57	0.40892	Armadillo-like helical (1);Armadillo-type fold (1);	0.932676	0.09018	N	0.860553	T	0.27489	0.0675	N	0.14661	0.345	0.09310	N	1	B;B	0.22746	0.074;0.068	B;B	0.09377	0.003;0.004	T	0.18241	-1.0343	10	0.18710	T	0.47	-15.071	6.5696	0.22531	0.2379:0.0:0.7621:0.0	.	58;122	A6NLC4;Q9UBB4	.;ATX10_HUMAN	Q	58;122;122	ENSP00000370449:R58Q;ENSP00000252934:R122Q	ENSP00000252934:R122Q	R	+	2	0	ATXN10	44467596	0.037000	0.19845	0.719000	0.30619	0.994000	0.84299	2.138000	0.42140	1.319000	0.45190	0.655000	0.94253	CGA		0.338	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318142.2	NM_013236		9	61	0	0	0	0	9	61				
PKDREJ	10343	broad.mit.edu	37	22	46653801	46653801	+	Silent	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr22:46653801G>A	ENST00000253255.5	-	1	5418	c.5419C>T	c.(5419-5421)Cta>Tta	p.L1807L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1807					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCGGCAGGTAGACACATTTTT	0.403																																						uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(5419-5421)CTA>TTA		receptor for egg jelly-like protein precursor							167.0	172.0	170.0					22																	46653801		2203	4300	6503	SO:0001819	synonymous_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46653801G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5419C>T	22.37:g.46653801G>A							p.L1807L	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	5419	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1807			Extracellular (Potential).		B1AJY3|O95850	Silent	SNP	ENST00000253255.5	37	c.5419C>T	CCDS14073.1																																																																																				0.403	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		30	254	0	0	0	0	30	254				
CELSR1	9620	broad.mit.edu	37	22	46760506	46760506	+	Silent	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr22:46760506G>A	ENST00000262738.3	-	33	8681	c.8682C>T	c.(8680-8682)cgC>cgT	p.R2894R		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2894					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCTGCTCCTCGCGGTGCAGCT	0.692																																						uc003bhw.1		NA																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(8680-8682)CGC>CGT		cadherin EGF LAG seven-pass G-type receptor 1							34.0	37.0	36.0					22																	46760506		2199	4297	6496	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46760506G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8682C>T	22.37:g.46760506G>A							p.R2894R	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	33	8682	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2894			Cytoplasmic (Potential).		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.8682C>T	CCDS14076.1																																																																																				0.692	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		16	64	0	0	0	0	16	64				
BRD1	23774	broad.mit.edu	37	22	50216800	50216800	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr22:50216800G>A	ENST00000216267.8	-	1	1652	c.1166C>T	c.(1165-1167)aCg>aTg	p.T389M	BRD1_ENST00000404034.1_Missense_Mutation_p.T389M|BRD1_ENST00000542442.1_Missense_Mutation_p.T28M|BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000457780.2_Missense_Mutation_p.T389M|BRD1_ENST00000404760.1_Missense_Mutation_p.T389M|BRD1_ENST00000342989.5_De_novo_Start_InFrame	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	389					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCCTGGAGGCGTGTGGACATC	0.542																																						uc003biv.2		NA																	0				pancreas(1)	1						c.(1165-1167)ACG>ATG		bromodomain containing protein 1							113.0	132.0	126.0					22																	50216800		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50216800G>A	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1166C>T	22.37:g.50216800G>A	ENSP00000216267:p.Thr389Met					BRD1_uc011arf.1_Translation_Start_Site|BRD1_uc011arg.1_Missense_Mutation_p.T389M|BRD1_uc011arh.1_Missense_Mutation_p.T389M|BRD1_uc003biu.3_Missense_Mutation_p.T389M	p.T389M	NM_014577	NP_055392	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	1653	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	389					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.1166C>T	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516699	0.64634	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442	T;T;T;T;T	0.38722	2.44;2.44;2.44;2.26;1.12	5.47	5.47	0.80525	Zinc finger, PHD-type (1);	0.043602	0.85682	D	0.000000	T	0.58864	0.2152	M	0.76838	2.35	0.80722	D	1	D;P;D	0.69078	0.995;0.909;0.997	P;B;P	0.51657	0.476;0.082;0.676	T	0.63559	-0.6610	10	0.54805	T	0.06	.	19.3129	0.94198	0.0:0.0:1.0:0.0	.	389;389;389	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	M	389;389;389;389;28	ENSP00000216267:T389M;ENSP00000384076:T389M;ENSP00000385858:T389M;ENSP00000410042:T389M;ENSP00000437514:T28M	ENSP00000216267:T389M	T	-	2	0	BRD1	48602804	1.000000	0.71417	0.997000	0.53966	0.546000	0.35178	7.357000	0.79456	2.568000	0.86640	0.655000	0.94253	ACG		0.542	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		19	180	0	0	0	0	19	180				
SELK	58515	broad.mit.edu	37	3	53919910	53919910	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:53919910C>T	ENST00000495461.1	-	4	423	c.224G>A	c.(223-225)gGt>gAt	p.G75D	SELK_ENST00000485414.1_5'Flank|SELK_ENST00000541726.1_Missense_Mutation_p.G75D			Q9Y6D0	SELK_HUMAN		75					calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|protein palmitoylation (GO:0018345)|regulation of protein transport (GO:0051223)|respiratory burst after phagocytosis (GO:0045728)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)									BRCA - Breast invasive adenocarcinoma(193;0.000146)|KIRC - Kidney renal clear cell carcinoma(284;0.00549)|Kidney(284;0.00619)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		ATTGATTCTACCCATTCTTCG	0.408																																						uc011bet.1		NA																	0					0						c.(223-225)GGT>GAT		selenoprotein K							42.0	44.0	43.0					3																	53919910		1847	4092	5939	SO:0001583	missense	58515				response to oxidative stress	endoplasmic reticulum		g.chr3:53919910C>T																												ENST00000495461.1:c.224G>A	3.37:g.53919910C>T	ENSP00000418813:p.Gly75Asp						p.G75D	NM_021237	NP_067060	Q9Y6D0	SELK_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000146)|KIRC - Kidney renal clear cell carcinoma(284;0.00549)|Kidney(284;0.00619)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	4	398	-			75					Q8IZQ3|Q9P085	Missense_Mutation	SNP	ENST00000495461.1	37	c.224G>A	CCDS54597.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729535	0.89390	.	.	ENSG00000113811	ENST00000495461;ENST00000541726	T;T	0.49432	0.78;0.78	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.70649	0.3248	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73892	-0.3839	9	0.87932	D	0	-13.6919	17.3209	0.87235	0.0:1.0:0.0:0.0	.	75	Q9Y6D0	SELK_HUMAN	D	75	ENSP00000418813:G75D;ENSP00000443164:G75D	ENSP00000418813:G75D	G	-	2	0	RP11-884K10.5	53894950	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.606000	0.67641	2.636000	0.89361	0.555000	0.69702	GGT		0.408	SELK-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000351659.1			4	3	0	0	0	0	4	3				
DZIP3	9666	broad.mit.edu	37	3	108344785	108344785	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:108344785G>T	ENST00000361582.3	+	7	780	c.550G>T	c.(550-552)Gga>Tga	p.G184*	DZIP3_ENST00000463306.1_Nonsense_Mutation_p.G184*	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	184					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AGTTTATTTTGGACGTGGTTT	0.353																																						uc003dxd.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(550-552)GGA>TGA		DAZ interacting protein 3, zinc finger							123.0	124.0	123.0					3																	108344785		2203	4299	6502	SO:0001587	stop_gained	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108344785G>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.550G>T	3.37:g.108344785G>T	ENSP00000355028:p.Gly184*					DZIP3_uc003dxf.1_Nonsense_Mutation_p.G184*|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Nonsense_Mutation_p.G184*	p.G184*	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			7	972	+			184					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Nonsense_Mutation	SNP	ENST00000361582.3	37	c.550G>T	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	G	37	5.983902	0.97173	.	.	ENSG00000198919	ENST00000393969;ENST00000361582;ENST00000486815;ENST00000479138;ENST00000463306	.	.	.	4.95	4.95	0.65309	.	0.248088	0.28700	N	0.014433	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.2863	13.6011	0.62020	0.0:0.0:1.0:0.0	.	.	.	.	X	184;184;100;184;184	.	ENSP00000355028:G184X	G	+	1	0	DZIP3	109827475	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.171000	0.58236	2.573000	0.86826	0.644000	0.83932	GGA		0.353	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		21	125	1	0	8.1e-08	9.35e-08	21	125				
ZDHHC23	254887	broad.mit.edu	37	3	113672564	113672564	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:113672564C>A	ENST00000330212.3	+	3	478	c.179C>A	c.(178-180)tCt>tAt	p.S60Y	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.S54Y	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	60					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						ACATGTAAATCTTTACAGCCA	0.403																																						uc003eau.2		NA																	0				ovary(2)	2						c.(178-180)TCT>TAT		zinc finger, DHHC domain containing 23							55.0	54.0	54.0					3																	113672564		2203	4300	6503	SO:0001583	missense	254887					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:113672564C>A	AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.179C>A	3.37:g.113672564C>A	ENSP00000330485:p.Ser60Tyr					ZDHHC23_uc003eav.2_Missense_Mutation_p.S54Y	p.S60Y	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN			3	478	+			60					D3DN76	Missense_Mutation	SNP	ENST00000330212.3	37	c.179C>A	CCDS33827.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827213	0.71143	.	.	ENSG00000184307	ENST00000330212;ENST00000498275;ENST00000491556	T;T;T	0.48836	0.85;0.85;0.8	5.76	5.76	0.90799	.	0.164522	0.56097	D	0.000029	T	0.59905	0.2228	L	0.43152	1.355	0.54753	D	0.999987	D	0.69078	0.997	P	0.59012	0.85	T	0.57705	-0.7765	10	0.51188	T	0.08	-18.9515	19.9559	0.97218	0.0:1.0:0.0:0.0	.	60	Q8IYP9	ZDH23_HUMAN	Y	60;54;60	ENSP00000330485:S60Y;ENSP00000417840:S54Y;ENSP00000420292:S60Y	ENSP00000330485:S60Y	S	+	2	0	ZDHHC23	115155254	1.000000	0.71417	0.936000	0.37596	0.953000	0.61014	6.718000	0.74713	2.728000	0.93425	0.462000	0.41574	TCT		0.403	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1	NM_173570		17	72	1	0	1.45e-14	1.75e-14	17	72				
POLQ	10721	broad.mit.edu	37	3	121186390	121186390	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:121186390G>A	ENST00000264233.5	-	24	7071	c.6943C>T	c.(6943-6945)Cga>Tga	p.R2315*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2315					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAGGCATGTCGCATGCTAATT	0.443								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(6943-6945)CGA>TGA	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							177.0	159.0	166.0					3																	121186390		2203	4300	6503	SO:0001587	stop_gained	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121186390G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6943C>T	3.37:g.121186390G>A	ENSP00000264233:p.Arg2315*					POLQ_uc003eed.2_Nonsense_Mutation_p.R1487*	p.R2315*	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	24	7072	-			2315					O95160|Q6VMB5	Nonsense_Mutation	SNP	ENST00000264233.5	37	c.6943C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	48	14.720819	0.99807	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	5.8	1.45	0.22620	.	0.111266	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0383	0.80645	0.0:0.0:0.425:0.575	.	.	.	.	X	1938;2315;2451	.	ENSP00000264233:R2315X	R	-	1	2	POLQ	122669080	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	2.048000	0.41278	0.339000	0.23719	0.591000	0.81541	CGA		0.443	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		20	48	0	0	0	0	20	48				
ADCY5	111	broad.mit.edu	37	3	123003507	123003507	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:123003507C>T	ENST00000462833.1	-	21	4946	c.3734G>A	c.(3733-3735)gGc>gAc	p.G1245D	RP11-797D24.4_ENST00000608436.1_RNA|ADCY5_ENST00000309879.5_Missense_Mutation_p.G895D|ADCY5_ENST00000491190.1_Missense_Mutation_p.G903D	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1245					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTCGCCTTTGCCCTTGACCTT	0.612																																						uc003egh.1		NA																	0				ovary(4)	4						c.(3733-3735)GGC>GAC		adenylate cyclase 5							189.0	168.0	175.0					3																	123003507		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123003507C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3734G>A	3.37:g.123003507C>T	ENSP00000419361:p.Gly1245Asp					ADCY5_uc003egg.1_Missense_Mutation_p.G903D	p.G1245D	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	21	3734	-			1245			Cytoplasmic (Potential).		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.3734G>A	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435283	0.96150	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.52057	0.68;0.68;0.68	4.93	4.93	0.64822	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.85682	D	0.000000	T	0.78880	0.4353	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85751	0.1343	10	0.87932	D	0	.	18.3605	0.90372	0.0:1.0:0.0:0.0	.	1245;903	O95622;B3KWA8	ADCY5_HUMAN;.	D	1245;903;895	ENSP00000419361:G1245D;ENSP00000418537:G903D;ENSP00000308685:G895D	ENSP00000308685:G895D	G	-	2	0	ADCY5	124486197	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.588000	0.82629	2.560000	0.86352	0.609000	0.83330	GGC		0.612	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		5	288	0	0	0	0	5	288				
ABTB1	80325	broad.mit.edu	37	3	127395182	127395182	+	Missense_Mutation	SNP	C	C	T	rs149260862		TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:127395182C>T	ENST00000232744.8	+	5	474	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C	ABTB1_ENST00000453791.2_5'UTR|ABTB1_ENST00000393363.3_5'UTR|ABTB1_ENST00000468137.1_5'UTR					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CCGGGTGCATCGCTGCGTCCT	0.572																																						uc003ejt.2		NA																	0					0						c.(388-390)CGC>TGC		ankyrin repeat and BTB (POZ) domain containing 1			,CYS/ARG	0,4406		0,0,2203	171.0	144.0	153.0		,388	4.4	0.6	3	dbSNP_134	153	1,8599	1.2+/-3.3	0,1,4299	no	utr-5,missense	ABTB1	NM_032548.3,NM_172027.2	,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging	,130/479	127395182	1,13005	2203	4300	6503	SO:0001583	missense	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127395182C>T	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.388C>T	3.37:g.127395182C>T	ENSP00000232744:p.Arg130Cys					ABTB1_uc003ejr.2_5'UTR|ABTB1_uc003ejs.2_Missense_Mutation_p.R105C|ABTB1_uc003eju.2_5'UTR|ABTB1_uc010hsm.2_5'Flank	p.R130C	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN			5	476	+			130			BTB 1.			Missense_Mutation	SNP	ENST00000232744.8	37	c.388C>T	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	c	16.53	3.149853	0.57151	0.0	1.16E-4	ENSG00000114626	ENST00000232744	T	0.75477	-0.94	4.41	4.41	0.53225	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.992	D	0.94659	0.7846	10	0.87932	D	0	-1.2922	17.3957	0.87444	0.0:1.0:0.0:0.0	.	130;105	Q969K4;Q969K4-3	ABTB1_HUMAN;.	C	130	ENSP00000232744:R130C	ENSP00000232744:R130C	R	+	1	0	ABTB1	128877872	1.000000	0.71417	0.580000	0.28601	0.010000	0.07245	7.593000	0.82686	2.156000	0.67533	0.457000	0.33378	CGC		0.572	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		22	138	0	0	0	0	22	138				
COL6A6	131873	broad.mit.edu	37	3	130380658	130380658	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:130380658C>T	ENST00000358511.6	+	34	6039	c.6008C>T	c.(6007-6009)aCt>aTt	p.T2003I	COL6A6_ENST00000453409.2_Missense_Mutation_p.T2003I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2003	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAGCCGGAGACTTCTGTCACT	0.517																																						uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(6007-6009)ACT>ATT		collagen type VI alpha 6 precursor							50.0	49.0	49.0					3																	130380658		1879	4113	5992	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130380658C>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.6008C>T	3.37:g.130380658C>T	ENSP00000351310:p.Thr2003Ile					COL6A6_uc003eni.3_Missense_Mutation_p.T102I	p.T2003I	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			34	6039	+			2003			VWFA 9.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.6008C>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	9.911	1.209609	0.22289	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.80214	-1.35;-1.35	5.92	5.03	0.67393	von Willebrand factor, type A (3);	.	.	.	.	T	0.81833	0.4906	N	0.21545	0.675	0.24137	N	0.995741	D;B	0.89917	1.0;0.015	D;B	0.87578	0.998;0.037	T	0.71787	-0.4487	9	0.24483	T	0.36	.	12.5588	0.56269	0.1387:0.7418:0.1195:0.0	.	2003;2003	A6NMZ7;F8W6Y7	CO6A6_HUMAN;.	I	2003	ENSP00000351310:T2003I;ENSP00000399236:T2003I	ENSP00000351310:T2003I	T	+	2	0	COL6A6	131863348	0.365000	0.25006	0.772000	0.31596	0.596000	0.36781	1.065000	0.30592	1.468000	0.48064	0.561000	0.74099	ACT		0.517	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		10	38	0	0	0	0	10	38				
HPS3	84343	broad.mit.edu	37	3	148880100	148880100	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:148880100G>C	ENST00000296051.2	+	12	2412	c.2272G>C	c.(2272-2274)Gaa>Caa	p.E758Q	HPS3_ENST00000460120.1_Missense_Mutation_p.E593Q	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	758					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGGAATTGAAGAAGCAGATTC	0.423									Hermansky-Pudlak syndrome																													uc003ewu.1		NA																	0				ovary(5)|large_intestine(1)	6						c.(2272-2274)GAA>CAA		Hermansky-Pudlak syndrome 3 protein							90.0	89.0	89.0					3																	148880100		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148880100G>C	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2272G>C	3.37:g.148880100G>C	ENSP00000296051:p.Glu758Gln					HPS3_uc011bnq.1_Missense_Mutation_p.E593Q|HPS3_uc003ewv.1_RNA	p.E758Q	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		12	2412	+			758					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.2272G>C	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001778	0.74932	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.64991	-0.13;-0.12	5.98	5.98	0.97165	.	0.164197	0.53938	D	0.000058	T	0.69043	0.3067	L	0.56769	1.78	0.46185	D	0.998919	P;P	0.51653	0.947;0.947	P;P	0.49421	0.61;0.48	T	0.65286	-0.6205	10	0.34782	T	0.22	-23.982	20.4496	0.99125	0.0:0.0:1.0:0.0	.	593;758	G5E9V4;Q969F9	.;HPS3_HUMAN	Q	758;593	ENSP00000296051:E758Q;ENSP00000418230:E593Q	ENSP00000296051:E758Q	E	+	1	0	HPS3	150362790	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.574000	0.67424	2.838000	0.97847	0.563000	0.77884	GAA		0.423	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		7	89	0	0	0	0	7	89				
SHOX2	6474	broad.mit.edu	37	3	157820503	157820503	+	Silent	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:157820503C>T	ENST00000425436.3	-	2	544	c.519G>A	c.(517-519)ctG>ctA	p.L173L	SHOX2_ENST00000483851.2_Silent_p.L173L|SHOX2_ENST00000441443.2_Silent_p.L44L|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000490689.2_Silent_p.L44L|SHOX2_ENST00000389589.4_Silent_p.L197L	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	173					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GTCGCTGGCTCAGTTCCTCTC	0.607																																						uc003fbr.2		NA																	0					0						c.(517-519)CTG>CTA		short stature homeobox 2 isoform a							97.0	86.0	90.0					3																	157820503		2203	4300	6503	SO:0001819	synonymous_variant	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157820503C>T	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.519G>A	3.37:g.157820503C>T						SHOX2_uc003fbs.2_Silent_p.L197L|SHOX2_uc010hvw.2_Silent_p.L173L	p.L173L	NM_006884	NP_006875	O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		2	658	-			173			Homeobox.		O60465|O60467|O60903	Silent	SNP	ENST00000425436.3	37	c.519G>A	CCDS43164.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337283	0.24253	.	.	ENSG00000168779	ENST00000555977	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	T	0.75384	0.3842	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73579	-0.3938	4	.	.	.	.	19.3594	0.94431	0.0:1.0:0.0:0.0	.	.	.	.	K	77	.	.	E	-	1	0	SHOX2	159303197	0.968000	0.33430	1.000000	0.80357	0.973000	0.67179	0.195000	0.17155	2.576000	0.86940	0.655000	0.94253	GAG		0.607	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			6	94	0	0	0	0	6	94				
MAGEF1	64110	broad.mit.edu	37	3	184429482	184429482	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:184429482G>A	ENST00000317897.3	-	1	354	c.128C>T	c.(127-129)gCc>gTc	p.A43V		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	43						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			CTCCCTCCCGGCGCCAAGCTC	0.751																																						uc003fpa.2		NA																	0				ovary(1)	1						c.(127-129)GCC>GTC		melanoma antigen family F, 1							13.0	17.0	15.0					3																	184429482		2163	4249	6412	SO:0001583	missense	64110							g.chr3:184429482G>A	AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.128C>T	3.37:g.184429482G>A	ENSP00000315064:p.Ala43Val						p.A43V	NM_022149	NP_071432	Q9HAY2	MAGF1_HUMAN	Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)		1	355	-	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		43					Q9H215	Missense_Mutation	SNP	ENST00000317897.3	37	c.128C>T	CCDS3269.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624864	0.66901	.	.	ENSG00000177383	ENST00000317897	T	0.04194	3.68	3.62	2.73	0.32206	.	2.198930	0.02863	U	0.130612	T	0.04907	0.0132	N	0.24115	0.695	0.09310	N	1	B	0.13594	0.008	B	0.16722	0.016	T	0.24261	-1.0165	10	0.44086	T	0.13	.	6.2602	0.20895	0.1342:0.0:0.8658:0.0	.	43	Q9HAY2	MAGF1_HUMAN	V	43	ENSP00000315064:A43V	ENSP00000315064:A43V	A	-	2	0	MAGEF1	185912176	0.002000	0.14202	0.026000	0.17262	0.020000	0.10135	0.944000	0.29043	2.046000	0.60703	0.655000	0.94253	GCC		0.751	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345417.1	NM_022149		7	49	0	0	0	0	7	49				
UBXN7	26043	broad.mit.edu	37	3	196089387	196089387	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr3:196089387C>T	ENST00000296328.4	-	9	1080	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	UBXN7_ENST00000428095.1_Missense_Mutation_p.D174N|UBXN7_ENST00000535858.1_Missense_Mutation_p.D188N	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	336						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TCTTCTTCATCAGAGCCACAA	0.443																																						uc003fwm.3		NA																	0				ovary(2)|pancreas(1)	3						c.(1006-1008)GAT>AAT		UBX domain containing 7							90.0	85.0	86.0					3																	196089387		1841	4108	5949	SO:0001583	missense	26043						protein binding	g.chr3:196089387C>T	AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.1006G>A	3.37:g.196089387C>T	ENSP00000296328:p.Asp336Asn					UBXN7_uc003fwn.3_Missense_Mutation_p.D188N|UBXN7_uc010iae.2_Missense_Mutation_p.D174N	p.D336N	NM_015562	NP_056377	O94888	UBXN7_HUMAN			9	1081	-			336					D3DXB3|Q6ZP77|Q86X20|Q8N327	Missense_Mutation	SNP	ENST00000296328.4	37	c.1006G>A	CCDS43191.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256603	0.80246	.	.	ENSG00000163960	ENST00000296328;ENST00000428095;ENST00000535858	.	.	.	5.79	5.79	0.91817	.	0.046443	0.85682	D	0.000000	T	0.50377	0.1612	L	0.27053	0.805	0.80722	D	1	P	0.34522	0.455	B	0.34824	0.19	T	0.52852	-0.8520	9	0.62326	D	0.03	-17.3534	20.0368	0.97565	0.0:1.0:0.0:0.0	.	336	O94888	UBXN7_HUMAN	N	336;174;188	.	ENSP00000296328:D336N	D	-	1	0	UBXN7	197573784	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.372000	0.79612	2.735000	0.93741	0.563000	0.77884	GAT		0.443	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		19	148	0	0	0	0	19	148				
DHX15	1665	broad.mit.edu	37	4	24529592	24529592	+	Silent	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr4:24529592G>A	ENST00000336812.4	-	14	2499	c.2343C>T	c.(2341-2343)gaC>gaT	p.D781D	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	781					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CAATGATGCGGTCCAACTGTC	0.393																																						uc003gqx.2		NA																	0				ovary(1)	1						c.(2341-2343)GAC>GAT		DEAH (Asp-Glu-Ala-His) box polypeptide 15							163.0	146.0	152.0					4																	24529592		2203	4300	6503	SO:0001819	synonymous_variant	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24529592G>A	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.2343C>T	4.37:g.24529592G>A						DHX15_uc003gqv.2_Silent_p.D187D|DHX15_uc003gqw.2_Silent_p.D204D	p.D781D	NM_001358	NP_001349	O43143	DHX15_HUMAN			14	2511	-		Breast(46;0.0503)	781					Q9NQT7	Silent	SNP	ENST00000336812.4	37	c.2343C>T	CCDS33966.1																																																																																				0.393	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	NM_001358		15	23	0	0	0	0	15	23				
ADAMTS3	9508	broad.mit.edu	37	4	73156643	73156643	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr4:73156643G>T	ENST00000286657.4	-	20	2896	c.2860C>A	c.(2860-2862)Cgt>Agt	p.R954S		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	954	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTCTCGGGACGGTCACCCATG	0.572																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1		NA																	0				ovary(1)|lung(1)	2						c.(2860-2862)CGT>AGT		ADAM metallopeptidase with thrombospondin type 1							132.0	112.0	119.0					4																	73156643		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73156643G>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2860C>A	4.37:g.73156643G>T	ENSP00000286657:p.Arg954Ser						p.R954S	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		20	2897	-			954			TSP type-1 3.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2860C>A	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119055	0.77323	.	.	ENSG00000156140	ENST00000286657	T	0.51325	0.71	5.42	5.42	0.78866	.	0.073760	0.53938	D	0.000057	T	0.72350	0.3449	M	0.84326	2.69	0.47698	D	0.999495	D	0.71674	0.998	D	0.72075	0.976	T	0.75178	-0.3409	10	0.54805	T	0.06	.	19.2087	0.93746	0.0:0.0:1.0:0.0	.	954	O15072	ATS3_HUMAN	S	954	ENSP00000286657:R954S	ENSP00000286657:R954S	R	-	1	0	ADAMTS3	73375507	1.000000	0.71417	0.782000	0.31804	0.725000	0.41563	4.193000	0.58385	2.533000	0.85409	0.557000	0.71058	CGT		0.572	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			23	24	1	0	1.56e-14	1.87e-14	23	24				
FAT1	2195	broad.mit.edu	37	4	187539227	187539227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr4:187539227G>T	ENST00000441802.2	-	10	8722	c.8513C>A	c.(8512-8514)tCa>tAa	p.S2838*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2838	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTTGGTTCCTGAGTCAGCATC	0.448										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(8512-8514)TCA>TAA		FAT tumor suppressor 1 precursor							112.0	105.0	107.0					4																	187539227		1944	4162	6106	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539227G>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8513C>A	4.37:g.187539227G>T	ENSP00000406229:p.Ser2838*	HNSCC(5;0.00058)					p.S2838*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	8701	-			2838			Extracellular (Potential).|Cadherin 26.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.8513C>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	49	15.831653	0.99846	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.86	4.0	0.46444	.	0.137780	0.51477	D	0.000091	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9617	0.35851	0.0779:0.1505:0.7716:0.0	.	.	.	.	X	2838;2840	.	ENSP00000260147:S2840X	S	-	2	0	FAT1	187776221	1.000000	0.71417	0.597000	0.28824	0.658000	0.38924	4.665000	0.61547	1.364000	0.46038	0.650000	0.86243	TCA		0.448	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		26	33	1	0	1.38e-23	1.7e-23	26	33				
SLC9A3	6550	broad.mit.edu	37	5	484690	484690	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:484690T>C	ENST00000264938.3	-	5	886	c.877A>G	c.(877-879)Atc>Gtc	p.I293V	SLC9A3_ENST00000514375.1_Missense_Mutation_p.I293V	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	293					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AGGTAGGAGATGATGAACACG	0.642																																						uc003jbe.2		NA																	0					0						c.(877-879)ATC>GTC		solute carrier family 9 (sodium/hydrogen							181.0	133.0	149.0					5																	484690		2203	4300	6503	SO:0001583	missense	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:484690T>C		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.877A>G	5.37:g.484690T>C	ENSP00000264938:p.Ile293Val					SLC9A3_uc011clx.1_Missense_Mutation_p.I293V	p.I293V	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		5	989	-			293			Helical; Name=I/M7; (Potential).		B7ZKR2|E9PF67|Q3MIW3	Missense_Mutation	SNP	ENST00000264938.3	37	c.877A>G	CCDS3855.1	.	.	.	.	.	.	.	.	.	.	T	8.627	0.892735	0.17613	.	.	ENSG00000066230	ENST00000264938;ENST00000514375	T;T	0.15603	2.41;2.41	4.31	0.235	0.15431	Cation/H+ exchanger (1);	0.684589	0.14043	N	0.345314	T	0.10423	0.0255	L	0.33710	1.025	0.25902	N	0.983346	B;B	0.11235	0.003;0.004	B;B	0.16289	0.015;0.015	T	0.32693	-0.9897	10	0.23891	T	0.37	.	5.0811	0.14656	0.0:0.1706:0.3098:0.5195	.	293;293	E9PF67;P48764	.;SL9A3_HUMAN	V	293	ENSP00000264938:I293V;ENSP00000422983:I293V	ENSP00000264938:I293V	I	-	1	0	SLC9A3	537690	0.996000	0.38824	0.959000	0.39883	0.473000	0.32948	0.248000	0.18198	0.100000	0.17581	0.459000	0.35465	ATC		0.642	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174		7	45	0	0	0	0	7	45				
IRX1	79192	broad.mit.edu	37	5	3599777	3599777	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:3599777G>T	ENST00000302006.3	+	2	767	c.715G>T	c.(715-717)Gac>Tac	p.D239Y	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	239					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCACGATGGCGACCAGAGCAA	0.662																																						uc003jde.2		NA																	0				ovary(1)|pancreas(1)	2						c.(715-717)GAC>TAC		iroquois homeobox protein 1							56.0	53.0	54.0					5																	3599777		2203	4300	6503	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599777G>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.715G>T	5.37:g.3599777G>T	ENSP00000305244:p.Asp239Tyr						p.D239Y	NM_024337	NP_077313	P78414	IRX1_HUMAN			2	767	+			239					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.715G>T	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988327	0.53934	.	.	ENSG00000170549	ENST00000302006	T	0.61980	0.06	4.71	4.71	0.59529	.	0.152849	0.56097	D	0.000023	T	0.61837	0.2379	L	0.43152	1.355	0.80722	D	1	P	0.38617	0.64	B	0.42625	0.393	T	0.67624	-0.5623	10	0.72032	D	0.01	.	17.6818	0.88246	0.0:0.0:1.0:0.0	.	239	P78414	IRX1_HUMAN	Y	239	ENSP00000305244:D239Y	ENSP00000305244:D239Y	D	+	1	0	IRX1	3652777	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.616000	0.83018	2.125000	0.65367	0.655000	0.94253	GAC		0.662	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		13	28	1	0	6.32e-08	7.31e-08	13	28				
CDH18	1016	broad.mit.edu	37	5	19483429	19483429	+	Silent	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:19483429G>A	ENST00000507958.1	-	14	2853	c.1863C>T	c.(1861-1863)ctC>ctT	p.L621L	CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000274170.4_Silent_p.L621L|CDH18_ENST00000382275.1_Silent_p.L621L|CDH18_ENST00000506372.1_3'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	621					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGAGAACACAGAGAAGAATAG	0.463																																						uc003jgc.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(1861-1863)CTC>CTT		cadherin 18, type 2 preproprotein							63.0	63.0	63.0					5																	19483429		2203	4300	6503	SO:0001819	synonymous_variant	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19483429G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1863C>T	5.37:g.19483429G>A						CDH18_uc003jgd.2_Silent_p.L621L|CDH18_uc011cnm.1_3'UTR	p.L621L	NM_004934	NP_004925	Q13634	CAD18_HUMAN			11	2240	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		621			Helical; (Potential).		A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	c.1863C>T	CCDS3889.1																																																																																				0.463	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		11	21	0	0	0	0	11	21				
PRDM9	56979	broad.mit.edu	37	5	23510095	23510095	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:23510095A>G	ENST00000296682.3	+	4	442	c.260A>G	c.(259-261)gAc>gGc	p.D87G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	87					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						CAGGTGGATGACACAGAAGAT	0.418										HNSCC(3;0.000094)																												uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(259-261)GAC>GGC		PR domain containing 9							79.0	79.0	79.0					5																	23510095		1872	4115	5987	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.chr5:23510095A>G	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.260A>G	5.37:g.23510095A>G	ENSP00000296682:p.Asp87Gly	HNSCC(3;0.000094)					p.D87G	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			4	442	+			87					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.260A>G	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	3.606	-0.080545	0.07141	.	.	ENSG00000164256	ENST00000502755;ENST00000296682	T;T	0.10668	2.85;2.88	3.79	1.21	0.21127	.	.	.	.	.	T	0.10208	0.0250	M	0.76170	2.325	0.09310	N	1	P	0.52842	0.956	B	0.36289	0.221	T	0.29792	-1.0000	9	0.59425	D	0.04	-3.6987	3.137	0.06442	0.6734:0.0:0.1192:0.2074	.	87	Q9NQV7	PRDM9_HUMAN	G	87	ENSP00000425471:D87G;ENSP00000296682:D87G	ENSP00000296682:D87G	D	+	2	0	PRDM9	23545852	0.672000	0.27530	0.115000	0.21578	0.542000	0.35054	1.295000	0.33377	0.139000	0.18822	0.496000	0.49642	GAC		0.418	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		7	37	0	0	0	0	7	37				
CDH10	1008	broad.mit.edu	37	5	24537631	24537631	+	Silent	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:24537631G>A	ENST00000264463.4	-	3	891	c.384C>T	c.(382-384)cgC>cgT	p.R128R		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	128	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R128R(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAGCTTGTGCGCGTAGAGTAT	0.413										HNSCC(23;0.051)																												uc003jgr.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(382-384)CGC>CGT		cadherin 10, type 2 preproprotein							158.0	146.0	150.0					5																	24537631		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24537631G>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.384C>T	5.37:g.24537631G>A		HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.R128R	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	3	716	-			128			Cadherin 1.|Extracellular (Potential).		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.384C>T	CCDS3892.1																																																																																				0.413	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		28	59	0	0	0	0	28	59				
MRPS30	10884	broad.mit.edu	37	5	44811123	44811123	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:44811123C>T	ENST00000507110.1	+	2	652	c.614C>T	c.(613-615)cCa>cTa	p.P205L	RP11-53O19.1_ENST00000503452.1_RNA|RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	205					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TATAGATGCCCAGTTCATTTT	0.333																																						uc003joh.2		NA																	0					0						c.(613-615)CCA>CTA		mitochondrial ribosomal protein S30							74.0	71.0	72.0					5																	44811123		2203	4300	6503	SO:0001583	missense	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44811123C>T	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.614C>T	5.37:g.44811123C>T	ENSP00000424328:p.Pro205Leu					MRPS30_uc003joi.1_RNA	p.P205L	NM_016640	NP_057724	Q9NP92	RT30_HUMAN			2	652	+	Lung NSC(6;8.08e-07)		205					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	37	c.614C>T	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.203802	0.38905	.	.	ENSG00000112996	ENST00000507110	T	0.16743	2.32	5.31	4.44	0.53790	.	0.334044	0.35151	N	0.003404	T	0.16811	0.0404	M	0.63428	1.95	0.34978	D	0.753853	B	0.13145	0.007	B	0.15052	0.012	T	0.12016	-1.0564	10	0.31617	T	0.26	0.0129	7.0158	0.24887	0.2698:0.6472:0.0:0.083	.	205	Q9NP92	RT30_HUMAN	L	205	ENSP00000424328:P205L	ENSP00000424328:P205L	P	+	2	0	MRPS30	44846880	0.931000	0.31567	0.984000	0.44739	0.810000	0.45777	2.037000	0.41174	1.369000	0.46134	0.655000	0.94253	CCA		0.333	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		4	48	0	0	0	0	4	48				
PRR16	51334	broad.mit.edu	37	5	120021745	120021745	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:120021745G>T	ENST00000407149.2	+	2	465	c.256G>T	c.(256-258)Ggc>Tgc	p.G86C	PRR16_ENST00000446965.1_Missense_Mutation_p.G16C|PRR16_ENST00000505123.1_Missense_Mutation_p.G16C|PRR16_ENST00000379551.2_Missense_Mutation_p.G63C			Q569H4	LARGN_HUMAN	proline rich 16	86					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TAGCTCAAGTGGCACAACAGC	0.522																																						uc003ksq.2		NA																	0				pancreas(2)|ovary(1)	3						c.(256-258)GGC>TGC		proline rich 16							115.0	104.0	107.0					5																	120021745		2203	4300	6503	SO:0001583	missense	51334							g.chr5:120021745G>T	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.256G>T	5.37:g.120021745G>T	ENSP00000385118:p.Gly86Cys					PRR16_uc003ksp.2_Missense_Mutation_p.G63C|PRR16_uc003ksr.2_Missense_Mutation_p.G16C	p.G86C	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	2	419	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	86					D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37	c.256G>T		.	.	.	.	.	.	.	.	.	.	G	16.15	3.041463	0.55003	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000509923;ENST00000505123;ENST00000446965	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.46	3.42	0.39159	.	0.234468	0.43919	D	0.000513	T	0.39963	0.1098	L	0.29908	0.895	0.30858	N	0.733816	P;D	0.69078	0.956;0.997	P;P	0.58873	0.629;0.847	T	0.37056	-0.9722	9	.	.	.	0.0	4.5995	0.12347	0.4215:0.0:0.5785:0.0	.	86;63	Q569H4;Q569H4-3	PRR16_HUMAN;.	C	86;63;16;16;16	ENSP00000385118:G86C;ENSP00000368869:G63C;ENSP00000421256:G16C;ENSP00000423446:G16C;ENSP00000405491:G16C	.	G	+	1	0	PRR16	120049644	1.000000	0.71417	0.844000	0.33320	0.896000	0.52359	6.066000	0.71185	1.309000	0.44985	0.555000	0.69702	GGC		0.522	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		5	36	1	0	1.24e-05	1.4e-05	5	36				
PCDHAC1	56135	broad.mit.edu	37	5	140307589	140307589	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:140307589C>G	ENST00000253807.2	+	1	1112	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S371C|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	371	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTCGATTCTAATGGTAGG	0.522																																						uc003lih.2		NA																	0				skin(3)|ovary(2)	5						c.(1111-1113)TCT>TGT		protocadherin alpha subfamily C, 1 isoform 1							89.0	85.0	87.0					5																	140307589		2203	4300	6503	SO:0001583	missense	56135				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140307589C>G	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1112C>G	5.37:g.140307589C>G	ENSP00000253807:p.Ser371Cys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.S371C	p.S371C	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1288	+			371			Cadherin 4.|Extracellular (Potential).		Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.1112C>G	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.681787	0.29872	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.53206	0.63;0.63	5.91	2.06	0.26882	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.56848	0.2013	M	0.65677	2.01	0.09310	N	1	P;P	0.50272	0.933;0.801	P;P	0.57679	0.825;0.694	T	0.45205	-0.9277	9	0.66056	D	0.02	.	5.7922	0.18367	0.2751:0.5204:0.0:0.2045	.	371;371	Q9H158;Q9H158-2	PCDC1_HUMAN;.	C	371	ENSP00000386356:S371C;ENSP00000253807:S371C	ENSP00000253807:S371C	S	+	2	0	PCDHAC1	140287773	0.009000	0.17119	0.786000	0.31890	0.693000	0.40251	0.958000	0.29227	0.377000	0.24735	0.462000	0.41574	TCT		0.522	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		15	22	0	0	0	0	15	22				
GRIA1	2890	broad.mit.edu	37	5	153026599	153026599	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr5:153026599C>T	ENST00000285900.5	+	3	675	c.332C>T	c.(331-333)cCg>cTg	p.P111L	GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000518783.1_Missense_Mutation_p.P121L|GRIA1_ENST00000448073.4_Missense_Mutation_p.P121L|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000340592.5_Missense_Mutation_p.P111L|GRIA1_ENST00000521843.2_Missense_Mutation_p.P42L	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	111					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TTCATTACGCCGAGCTTTCCC	0.493																																						uc003lva.3		NA																	0				ovary(4)|skin(2)	6						c.(331-333)CCG>CTG		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						170.0	155.0	160.0					5																	153026599		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153026599C>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.332C>T	5.37:g.153026599C>T	ENSP00000285900:p.Pro111Leu					GRIA1_uc003luy.3_Missense_Mutation_p.P111L|GRIA1_uc003luz.3_Missense_Mutation_p.P16L|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Intron|GRIA1_uc011dcx.1_Missense_Mutation_p.P42L|GRIA1_uc011dcy.1_Missense_Mutation_p.P121L|GRIA1_uc011dcz.1_Missense_Mutation_p.P121L|GRIA1_uc010jia.1_Missense_Mutation_p.P91L	p.P111L	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		3	697	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	111			Extracellular (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.332C>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656282	0.67586	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.55	3.78	0.43462	Extracellular ligand-binding receptor (1);	0.050944	0.85682	N	0.000000	D	0.88959	0.6579	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;P	0.97110	1.0;1.0;1.0;1.0;0.807	D	0.87226	0.2257	10	0.42905	T	0.14	.	11.1663	0.48545	0.0:0.8512:0.0:0.1488	.	121;121;121;111;111	E7ESV8;B7Z9G9;B7Z2W8;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	L	111;111;65;111;42;42;121;121	ENSP00000285900:P111L;ENSP00000339343:P111L;ENSP00000427864:P42L;ENSP00000442108:P42L;ENSP00000428994:P121L;ENSP00000415569:P121L	ENSP00000285900:P111L	P	+	2	0	GRIA1	153006792	1.000000	0.71417	0.019000	0.16419	0.815000	0.46073	7.581000	0.82535	0.714000	0.32081	-0.136000	0.14681	CCG		0.493	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			6	72	0	0	0	0	6	72				
CAGE1	285782	broad.mit.edu	37	6	7370283	7370283	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:7370283G>A	ENST00000512086.1	-	6	1964	c.1762C>T	c.(1762-1764)Cat>Tat	p.H588Y	CAGE1_ENST00000379918.4_Missense_Mutation_p.H588Y|CAGE1_ENST00000502583.1_Missense_Mutation_p.H588Y|CAGE1_ENST00000296742.7_Missense_Mutation_p.H452Y|CAGE1_ENST00000338150.4_Missense_Mutation_p.H588Y			Q8TC20	CAGE1_HUMAN	cancer antigen 1	588										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AGATTAGAATGTGTCGTTTTT	0.383																																						uc003mxi.2		NA																	0					0						c.(1354-1356)CAT>TAT		cancer antigen 1							78.0	72.0	74.0					6																	7370283		1839	4091	5930	SO:0001583	missense	285782							g.chr6:7370283G>A	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1762C>T	6.37:g.7370283G>A	ENSP00000427583:p.His588Tyr					CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Missense_Mutation_p.H343Y|CAGE1_uc003mxk.1_Missense_Mutation_p.H343Y	p.H452Y	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN			5	2075	-	Ovarian(93;0.0418)		588					D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	ENST00000512086.1	37	c.1354C>T		.	.	.	.	.	.	.	.	.	.	G	1.019	-0.685390	0.03328	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431	T;T;T;T;T	0.32988	1.43;1.43;1.44;1.44;1.43	4.5	2.67	0.31697	.	0.943366	0.08903	N	0.876922	T	0.14874	0.0359	L	0.44542	1.39	0.09310	N	1	D;P;P	0.60575	0.988;0.729;0.729	P;B;P	0.50754	0.649;0.372;0.474	T	0.09228	-1.0684	10	0.25106	T	0.35	0.8853	5.1802	0.15156	0.1056:0.0:0.6708:0.2236	.	588;588;588	Q8TC20-3;D6RCT9;Q8TC20	.;.;CAGE1_HUMAN	Y	588;588;588;452;588;588;588	ENSP00000369250:H588Y;ENSP00000425493:H588Y;ENSP00000296742:H452Y;ENSP00000427583:H588Y;ENSP00000338107:H588Y	ENSP00000296742:H452Y	H	-	1	0	CAGE1	7315282	0.398000	0.25279	0.001000	0.08648	0.026000	0.11368	2.554000	0.45845	0.486000	0.27676	-0.284000	0.09977	CAT		0.383	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		5	25	0	0	0	0	5	25				
HIST1H1C	3006	broad.mit.edu	37	6	26056533	26056533	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:26056533C>G	ENST00000343677.2	-	1	166	c.124G>C	c.(124-126)Gag>Cag	p.E42Q		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	42	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GTGATGAGCTCTGACACCGGG	0.612																																						uc003nfw.2		NA																	0				ovary(3)|skin(2)	5						c.(124-126)GAG>CAG		histone cluster 1, H1c							48.0	57.0	54.0					6																	26056533		2203	4300	6503	SO:0001583	missense	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056533C>G	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.124G>C	6.37:g.26056533C>G	ENSP00000339566:p.Glu42Gln						p.E42Q	NM_005319	NP_005310	P16403	H12_HUMAN			1	167	-			42			H15.		A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	c.124G>C	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154389	0.78114	.	.	ENSG00000187837	ENST00000343677	T	0.08984	3.03	5.73	5.73	0.89815	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.304674	0.34853	N	0.003635	T	0.09818	0.0241	L	0.54965	1.715	0.80722	D	1	P	0.37548	0.599	P	0.45167	0.472	T	0.07177	-1.0786	10	0.34782	T	0.22	-80.871	19.248	0.93909	0.0:1.0:0.0:0.0	.	42	P16403	H12_HUMAN	Q	42	ENSP00000339566:E42Q	ENSP00000339566:E42Q	E	-	1	0	HIST1H1C	26164512	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	3.848000	0.55903	2.861000	0.98227	0.655000	0.94253	GAG		0.612	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		10	90	0	0	0	0	10	90				
OR5V1	81696	broad.mit.edu	37	6	29323824	29323824	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:29323824A>G	ENST00000377154.1	-	4	448	c.149T>C	c.(148-150)gTg>gCg	p.V50A	OR5V1_ENST00000543825.1_Missense_Mutation_p.V50A			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGGATCAGTCACAGTCGTCAA	0.388																																					Ovarian(32;43 883 21137 32120 42650)	uc011dlo.1		NA																	0				ovary(3)|kidney(1)	4						c.(148-150)GTG>GCG		olfactory receptor, family 5, subfamily V,							150.0	149.0	150.0					6																	29323824		2203	4300	6503	SO:0001583	missense	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323824A>G		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.149T>C	6.37:g.29323824A>G	ENSP00000366359:p.Val50Ala						p.V50A	NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN			1	231	-			50			Cytoplasmic (Potential).		A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	c.149T>C	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	A	0.351	-0.944636	0.02304	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.01076	5.37;5.37	4.36	-1.76	0.08006	GPCR, rhodopsin-like superfamily (1);	1.427960	0.05258	N	0.515248	T	0.00328	0.0010	N	0.20304	0.555	0.09310	N	1	B	0.22746	0.074	B	0.12156	0.007	T	0.41910	-0.9482	10	0.16420	T	0.52	-2.6534	9.364	0.38212	0.2241:0.5646:0.0:0.2113	.	50	Q9UGF6	OR5V1_HUMAN	A	50	ENSP00000366359:V50A;ENSP00000443309:V50A	ENSP00000366356:V50A	V	-	2	0	OR5V1	29431803	0.000000	0.05858	0.000000	0.03702	0.214000	0.24535	-3.161000	0.00577	-0.345000	0.08325	0.438000	0.28831	GTG		0.388	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			20	125	0	0	0	0	20	125				
NOTCH4	4855	broad.mit.edu	37	6	32171962	32171962	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:32171962G>T	ENST00000375023.3	-	19	3208	c.3070C>A	c.(3070-3072)Cac>Aac	p.H1024N		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1024	EGF-like 26. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCCAGAGAGTGGCAGGCTGCA	0.627																																						uc003obb.2		NA																	0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(3070-3072)CAC>AAC		notch4 preproprotein							64.0	47.0	53.0					6																	32171962		1508	2708	4216	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32171962G>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3070C>A	6.37:g.32171962G>T	ENSP00000364163:p.His1024Asn					NOTCH4_uc003oba.2_5'Flank|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	p.H1024N	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			19	3209	-			1024			Extracellular (Potential).|EGF-like 26.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.3070C>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926869	0.52759	.	.	ENSG00000204301	ENST00000375023	D	0.83755	-1.76	4.77	4.77	0.60923	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.47455	D	0.000236	T	0.60038	0.2238	L	0.35542	1.07	0.80722	D	1	B	0.14438	0.01	B	0.06405	0.002	T	0.57774	-0.7753	9	.	.	.	.	10.3926	0.44181	0.0:0.0:0.8049:0.1951	.	1024	Q99466	NOTC4_HUMAN	N	1024	ENSP00000364163:H1024N	.	H	-	1	0	NOTCH4	32279940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.259000	0.43259	2.488000	0.83962	0.561000	0.74099	CAC		0.627	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			4	25	1	0	0.00024832	0.000270677	4	25				
TRERF1	55809	broad.mit.edu	37	6	42231078	42231078	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:42231078C>A	ENST00000372922.4	-	8	2426	c.1864G>T	c.(1864-1866)Gac>Tac	p.D622Y	TRERF1_ENST00000541110.1_Missense_Mutation_p.D622Y|TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000340840.2_Intron	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	622	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ATCTCGTCGTCCGACATCGAG	0.667																																						uc003osd.2		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(1864-1866)GAC>TAC		transcriptional regulating factor 1							69.0	72.0	71.0					6																	42231078		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42231078C>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1864G>T	6.37:g.42231078C>A	ENSP00000362013:p.Asp622Tyr					TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Missense_Mutation_p.D622Y	p.D622Y	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		8	2427	-	Colorectal(47;0.196)		622			Pro-rich.|Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.1864G>T	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662247	0.67700	.	.	ENSG00000124496	ENST00000541110;ENST00000372922	T;T	0.14766	2.48;2.72	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000015	T	0.19644	0.0472	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.05338	-1.0891	10	0.72032	D	0.01	-24.0648	18.2545	0.90015	0.0:1.0:0.0:0.0	.	622;622	Q05GC8;Q96PN7	.;TREF1_HUMAN	Y	622	ENSP00000439689:D622Y;ENSP00000362013:D622Y	ENSP00000362013:D622Y	D	-	1	0	TRERF1	42339056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.585000	0.53943	2.307000	0.77673	0.561000	0.74099	GAC		0.667	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		8	79	1	0	0.000274275	0.00029801	8	79				
CNR1	1268	broad.mit.edu	37	6	88854382	88854382	+	Silent	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:88854382C>T	ENST00000537554.1	-	2	4174	c.612G>A	c.(610-612)gtG>gtA	p.V204V	CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Silent_p.V204V|CNR1_ENST00000369501.2_Silent_p.V204V|CNR1_ENST00000549716.1_Silent_p.V143V|CNR1_ENST00000468898.1_Silent_p.V171V|CNR1_ENST00000549890.1_Silent_p.V204V|CNR1_ENST00000535130.1_Silent_p.V204V|CNR1_ENST00000369499.2_Silent_p.V204V	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	204					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ACAGGCTGCCCACGGAGGCAG	0.557																																						uc011dzq.1		NA																	0				skin(2)	2						c.(610-612)GTG>GTA		cannabinoid receptor 1 isoform a	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						41.0	41.0	41.0					6																	88854382		2202	4296	6498	SO:0001819	synonymous_variant	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854382C>T	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.612G>A	6.37:g.88854382C>T						CNR1_uc010kbz.2_Silent_p.V204V|CNR1_uc011dzr.1_Silent_p.V204V|CNR1_uc011dzs.1_Silent_p.V204V|CNR1_uc003pmq.3_Silent_p.V204V|CNR1_uc011dzt.1_Silent_p.V204V|CNR1_uc010kca.2_Silent_p.V171V	p.V204V	NM_001160260	NP_001153732	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4175	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	204			Helical; Name=3; (Potential).		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP	ENST00000537554.1	37	c.612G>A	CCDS5015.1																																																																																				0.557	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			3	30	0	0	0	0	3	30				
MAN1A1	4121	broad.mit.edu	37	6	119510904	119510904	+	Missense_Mutation	SNP	C	C	T	rs117089274	byFrequency	TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:119510904C>T	ENST00000368468.3	-	10	1912	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	491					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.E491K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GCCATGCCTTCGGGAGCTGCA	0.522													C|||	39	0.00778754	0.0	0.0144	5008	,	,		16856	0.0		0.0209	False		,,,				2504	0.0082				Ovarian(136;8 1825 12608 33541 47587)	uc003pym.1		NA																	1	Substitution - Missense(1)	p.E491K(1)	central_nervous_system(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1471-1473)GAA>AAA		mannosidase, alpha, class 1A, member 1		C	LYS/GLU	10,4396	16.8+/-37.8	0,10,2193	127.0	123.0	124.0		1471	-3.8	0.0	6	dbSNP_132	124	123,8477	64.2+/-126.4	0,123,4177	yes	missense	MAN1A1	NM_005907.2	56	0,133,6370	TT,TC,CC		1.4302,0.227,1.0226	benign	491/654	119510904	133,12873	2203	4300	6503	SO:0001583	missense	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119510904C>T	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1471G>A	6.37:g.119510904C>T	ENSP00000357453:p.Glu491Lys						p.E491K	NM_005907	NP_005898	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	10	1913	-		all_epithelial(87;0.173)	491			Lumenal (Potential).		E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	c.1471G>A	CCDS5122.1	20	0.009157509157509158	0	0.0	5	0.013812154696132596	0	0.0	15	0.01978891820580475	C	6.705	0.498656	0.12762	0.00227	0.014302	ENSG00000111885	ENST00000368468	T	0.71579	-0.58	5.52	-3.85	0.04243	.	0.992483	0.08201	N	0.982260	T	0.26666	0.0652	N	0.17345	0.48	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.17776	-1.0358	10	0.27082	T	0.32	-21.37	7.6789	0.28502	0.0:0.3419:0.2891:0.369	.	491	P33908	MA1A1_HUMAN	K	491	ENSP00000357453:E491K	ENSP00000357453:E491K	E	-	1	0	MAN1A1	119552603	0.000000	0.05858	0.000000	0.03702	0.194000	0.23727	-0.762000	0.04745	-0.433000	0.07286	-0.830000	0.03078	GAA		0.522	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907		11	85	0	0	0	0	11	85				
CCDC170	80129	broad.mit.edu	37	6	151859254	151859254	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:151859254C>G	ENST00000239374.7	+	3	360	c.261C>G	c.(259-261)taC>taG	p.Y87*	CCDC170_ENST00000367290.5_Nonsense_Mutation_p.Y87*|CCDC170_ENST00000544131.1_3'UTR	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	87																	TGGAGAGCTACAAGGAAAACA	0.388																																						uc003qol.2		NA																	0					0						c.(259-261)TAC>TAG		hypothetical protein LOC80129							69.0	62.0	64.0					6																	151859254		1840	4101	5941	SO:0001587	stop_gained	80129							g.chr6:151859254C>G	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.261C>G	6.37:g.151859254C>G	ENSP00000239374:p.Tyr87*						p.Y87*	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	3	350	+		Ovarian(120;0.126)	87			Potential.		Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Nonsense_Mutation	SNP	ENST00000239374.7	37	c.261C>G	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	C	35	5.432364	0.96150	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	.	.	.	5.53	2.24	0.28232	.	0.066642	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.833	9.9719	0.41759	0.0:0.5166:0.0:0.4834	.	.	.	.	X	87	.	ENSP00000239374:Y87X	Y	+	3	2	C6orf97	151900947	0.999000	0.42202	0.995000	0.50966	0.934000	0.57294	0.488000	0.22371	0.152000	0.19188	0.650000	0.86243	TAC		0.388	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		7	46	0	0	0	0	7	46				
CCDC170	80129	broad.mit.edu	37	6	151936746	151936746	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr6:151936746G>T	ENST00000239374.7	+	10	1978	c.1879G>T	c.(1879-1881)Gaa>Taa	p.E627*	CCDC170_ENST00000367290.5_Nonsense_Mutation_p.E634*|RNU6-813P_ENST00000384691.1_RNA	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	627																	AAACATGATAGAAGTGGTAAC	0.403																																						uc003qol.2		NA																	0					0						c.(1879-1881)GAA>TAA		hypothetical protein LOC80129							149.0	143.0	145.0					6																	151936746		1841	4094	5935	SO:0001587	stop_gained	80129							g.chr6:151936746G>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1879G>T	6.37:g.151936746G>T	ENSP00000239374:p.Glu627*						p.E627*	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	10	1968	+		Ovarian(120;0.126)	627			Potential.		Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Nonsense_Mutation	SNP	ENST00000239374.7	37	c.1879G>T	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	G	37	6.581596	0.97680	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	.	.	.	6.17	3.29	0.37713	.	0.297249	0.35772	N	0.003000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-1.2642	17.5185	0.87781	0.0:0.4039:0.5961:0.0	.	.	.	.	X	627;634	.	ENSP00000239374:E627X	E	+	1	0	C6orf97	151978439	1.000000	0.71417	0.007000	0.13788	0.766000	0.43426	4.492000	0.60334	0.372000	0.24591	0.655000	0.94253	GAA		0.403	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		37	82	1	0	2.87e-16	3.49e-16	37	82				
GPNMB	10457	broad.mit.edu	37	7	23286502	23286502	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr7:23286502G>A	ENST00000381990.2	+	1	187	c.26G>A	c.(25-27)gGa>gAa	p.G9E	GPNMB_ENST00000453162.2_Missense_Mutation_p.G9E|GPNMB_ENST00000409458.3_Missense_Mutation_p.G9E|GPNMB_ENST00000258733.4_Missense_Mutation_p.G9E|GPNMB_ENST00000539136.1_Missense_Mutation_p.G9E	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	9					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TATTTCCTGGGATTTCTGCTC	0.478																																						uc003swc.2		NA																	0				ovary(3)|breast(2)	5						c.(25-27)GGA>GAA		glycoprotein (transmembrane) nmb isoform a							171.0	182.0	178.0					7																	23286502		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23286502G>A	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.26G>A	7.37:g.23286502G>A	ENSP00000371420:p.Gly9Glu					GPNMB_uc003swa.2_Missense_Mutation_p.G9E|GPNMB_uc003swb.2_Missense_Mutation_p.G9E|GPNMB_uc011jyy.1_Missense_Mutation_p.G9E|GPNMB_uc011jyz.1_Missense_Mutation_p.G9E	p.G9E	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		1	187	+			9					A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.26G>A	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250630	0.59212	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000409458;ENST00000539136;ENST00000453162	T;T;T;T	0.25579	2.51;2.51;1.79;2.5	5.8	3.94	0.45596	.	0.443403	0.21201	N	0.078480	T	0.41236	0.1150	M	0.68317	2.08	0.21527	N	0.999657	D;D;D;D;D	0.56746	0.977;0.977;0.961;0.977;0.977	P;P;P;P;P	0.58873	0.847;0.847;0.708;0.847;0.847	T	0.19844	-1.0293	10	0.51188	T	0.08	-9.1148	9.1523	0.36971	0.0:0.2403:0.3964:0.3633	.	9;9;9;9;9	F6SKP1;F5GY20;Q14956;Q14956-2;Q96F58	.;.;GPNMB_HUMAN;.;.	E	9;44;9;9;9;9;9	ENSP00000258733:G9E;ENSP00000371420:G9E;ENSP00000445266:G9E;ENSP00000405586:G9E	ENSP00000258733:G9E	G	+	2	0	GPNMB	23253027	0.809000	0.29036	0.980000	0.43619	0.682000	0.39822	0.978000	0.29488	0.732000	0.32470	0.591000	0.81541	GGA		0.478	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		28	51	0	0	0	0	28	51				
HOXA7	3204	broad.mit.edu	37	7	27194647	27194647	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr7:27194647C>T	ENST00000242159.3	-	2	707	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	HOXA-AS3_ENST00000521231.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA7_ENST00000523796.2_5'UTR|HOXA-AS3_ENST00000524304.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518947.2_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	192					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GTCGGACCTTCGTCCTTATGC	0.637																																						uc003sys.2		NA																	0					0						c.(574-576)GAA>AAA		homeobox A7							74.0	81.0	79.0					7																	27194647		2203	4300	6503	SO:0001583	missense	3204				angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	g.chr7:27194647C>T		CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"""Homeoboxes / ANTP class : HOXL subclass"""	5108	protein-coding gene	gene with protein product		142950	"""homeo box A7"""	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.574G>A	7.37:g.27194647C>T	ENSP00000242159:p.Glu192Lys					HOXA6_uc003syq.1_5'Flank|uc003syr.1_3'UTR	p.E192K	NM_006896	NP_008827	P31268	HXA7_HUMAN			2	706	-			192					A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Missense_Mutation	SNP	ENST00000242159.3	37	c.574G>A	CCDS5408.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347815	0.24426	.	.	ENSG00000122592	ENST00000242159	D	0.89617	-2.54	4.81	3.93	0.45458	Homeobox (1);Homeodomain-like (1);	0.193573	0.42964	D	0.000624	T	0.75657	0.3879	N	0.08118	0	0.36978	D	0.894167	B	0.06786	0.001	B	0.04013	0.001	T	0.69266	-0.5190	10	0.13108	T	0.6	.	12.5489	0.56216	0.0:0.9192:0.0:0.0808	.	192	P31268	HXA7_HUMAN	K	192	ENSP00000242159:E192K	ENSP00000242159:E192K	E	-	1	0	HOXA7	27161172	.	.	0.011000	0.14972	0.252000	0.25951	.	.	1.023000	0.39654	0.462000	0.41574	GAA		0.637	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358695.1			11	120	0	0	0	0	11	120				
RNF148	378925	broad.mit.edu	37	7	122341901	122341901	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr7:122341901T>C	ENST00000434824.1	-	1	1120	c.904A>G	c.(904-906)Atc>Gtc	p.I302V	RNF148_ENST00000447240.1_3'UTR|RNF133_ENST00000340112.2_5'Flank|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	302						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						GTTTTCAGGATGTCACACTTG	0.358																																						uc003vkk.1		NA																	0					0						c.(904-906)ATC>GTC		ring finger protein 148 precursor							98.0	91.0	93.0					7																	122341901		1852	4100	5952	SO:0001583	missense	378925					integral to membrane	zinc ion binding	g.chr7:122341901T>C	BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.904A>G	7.37:g.122341901T>C	ENSP00000388207:p.Ile302Val					CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron|RNF133_uc003vkj.1_5'Flank|RNF148_uc010lkr.1_3'UTR	p.I302V	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN			1	1121	-			302					A4D0X4|Q8N308	Missense_Mutation	SNP	ENST00000434824.1	37	c.904A>G	CCDS47692.1	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670252	0.47677	.	.	ENSG00000235631	ENST00000434824	T	0.67523	-0.27	5.41	3.04	0.35103	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.39253	0.1071	N	0.04880	-0.145	0.80722	D	1	P	0.41475	0.751	B	0.42522	0.39	T	0.29243	-1.0018	9	0.07482	T	0.82	.	5.2781	0.15661	0.0:0.1602:0.15:0.6898	.	302	Q8N7C7	RN148_HUMAN	V	302	ENSP00000388207:I302V	ENSP00000388207:I302V	I	-	1	0	RNF148	122129137	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	2.423000	0.44705	0.368000	0.24481	0.533000	0.62120	ATC		0.358	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085		7	106	0	0	0	0	7	106				
FLNC	2318	broad.mit.edu	37	7	128489488	128489488	+	Silent	SNP	G	G	A	rs57797061		TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr7:128489488G>A	ENST00000325888.8	+	30	5316	c.5055G>A	c.(5053-5055)ccG>ccA	p.P1685P	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.P1685P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1685					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGTCCACGCCGGATGGGGCAG	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16616	0.0		0.0	False		,,,				2504	0.0					uc003vnz.3		NA																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(5053-5055)CCG>CCA		gamma filamin isoform a							91.0	108.0	103.0					7																	128489488		2191	4276	6467	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128489488G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5055G>A	7.37:g.128489488G>A						FLNC_uc003voa.3_Silent_p.P1685P	p.P1685P	NM_001458	NP_001449	Q14315	FLNC_HUMAN			30	5264	+			1685			Filamin 15.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.5055G>A	CCDS43644.1																																																																																				0.607	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			3	53	0	0	0	0	3	53				
COPS5	10987	broad.mit.edu	37	8	67958147	67958147	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr8:67958147C>G	ENST00000357849.4	-	7	1140	c.820G>C	c.(820-822)Gag>Cag	p.E274Q	COPS5_ENST00000517736.1_3'UTR|PPP1R42_ENST00000517834.1_Intron	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	274					cullin deneddylation (GO:0010388)|exosomal secretion (GO:1990182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein deneddylation (GO:0000338)|protein deubiquitination (GO:0016579)|regulation of cell cycle (GO:0051726)|regulation of JNK cascade (GO:0046328)|transcription from RNA polymerase II promoter (GO:0006366)|translation (GO:0006412)|translational initiation (GO:0006413)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 3 complex (GO:0005852)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|transcription coactivator activity (GO:0003713)|translation initiation factor activity (GO:0003743)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TCTGACTGCTCTAACTTTTCA	0.438																																						uc003xxe.2		NA																	0				ovary(1)|skin(1)	2						c.(820-822)GAG>CAG		COP9 signalosome subunit 5							132.0	126.0	128.0					8																	67958147		2203	4300	6503	SO:0001583	missense	10987				cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity	g.chr8:67958147C>G	U65928	CCDS6198.1	8q13.1	2013-03-14	2013-03-14		ENSG00000121022	ENSG00000121022			2240	protein-coding gene	gene with protein product		604850	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5"", ""COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)"""			8837781, 9341143	Standard	NM_006837		Approved	JAB1, SGN5, MOV-34, CSN5	uc003xxe.3	Q92905	OTTHUMG00000164563	ENST00000357849.4:c.820G>C	8.37:g.67958147C>G	ENSP00000350512:p.Glu274Gln					COPS5_uc003xxd.2_Missense_Mutation_p.E210Q|COPS5_uc003xxf.2_Missense_Mutation_p.E319Q|COPS5_uc010lyu.1_RNA	p.E274Q	NM_006837	NP_006828	Q92905	CSN5_HUMAN	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)		7	1151	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	274					O15386|Q6AW95|Q86WQ4|Q9BQ17	Missense_Mutation	SNP	ENST00000357849.4	37	c.820G>C	CCDS6198.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409197	0.62399	.	.	ENSG00000121022	ENST00000357849	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.62233	0.2411	L	0.53780	1.695	0.80722	D	1	B	0.33477	0.413	B	0.35770	0.21	T	0.58967	-0.7542	9	0.33141	T	0.24	-10.8262	19.4016	0.94632	0.0:1.0:0.0:0.0	.	274	Q92905	CSN5_HUMAN	Q	274	.	ENSP00000350512:E274Q	E	-	1	0	COPS5	68120701	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.802000	0.85969	2.694000	0.91930	0.557000	0.71058	GAG		0.438	COPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379245.2			6	89	0	0	0	0	6	89				
SLCO5A1	81796	broad.mit.edu	37	8	70744677	70744677	+	Missense_Mutation	SNP	G	G	C	rs146746403		TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr8:70744677G>C	ENST00000260126.4	-	2	938	c.232C>G	c.(232-234)Ccg>Gcg	p.P78A	RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000528800.2_RNA|RP11-159H10.3_ENST00000533300.1_RNA|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P78A|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P78A	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GGGGCCAACGGGTTCGGGCCT	0.647											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xyl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(232-234)CCG>GCG		solute carrier organic anion transporter family,							42.0	45.0	44.0					8																	70744677		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744677G>C	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.232C>G	8.37:g.70744677G>C	ENSP00000260126:p.Pro78Ala		OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1124	SLCO5A1_uc010lzb.2_Missense_Mutation_p.P78A|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.P78A|SLCO5A1_uc010lzc.2_Missense_Mutation_p.P78A	p.P78A	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	939	-	Breast(64;0.0654)		78			Cytoplasmic (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.232C>G	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	G	2.145	-0.395977	0.04899	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.40756	1.21;1.56;1.02	5.61	-1.19	0.09585	.	1.638420	0.03230	N	0.178751	T	0.23806	0.0576	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.19817	0.002;0.039;0.009;0.0	B;B;B;B	0.15870	0.003;0.014;0.006;0.001	T	0.15065	-1.0450	10	0.08837	T	0.75	.	7.954	0.30031	0.1689:0.5505:0.2806:0.0	.	78;78;78;78	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	A	78	ENSP00000260126:P78A;ENSP00000434422:P78A;ENSP00000431611:P78A	ENSP00000260126:P78A	P	-	1	0	SLCO5A1	70907231	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.054000	0.14205	-0.209000	0.10156	0.484000	0.47621	CCG		0.647	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		37	43	0	0	0	0	37	43				
CTHRC1	115908	broad.mit.edu	37	8	104394752	104394752	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr8:104394752C>G	ENST00000330295.5	+	4	798	c.656C>G	c.(655-657)tCa>tGa	p.S219*	CTHRC1_ENST00000520337.1_Nonsense_Mutation_p.S205*|RP11-1C8.6_ENST00000577199.1_lincRNA|RNU6-1011P_ENST00000384668.1_RNA|CTHRC1_ENST00000520880.1_Nonsense_Mutation_p.S89*	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	219					cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GGTACTTGTTCAGATTACCCA	0.373																																						uc003ylk.2		NA																	0				ovary(1)	1						c.(655-657)TCA>TGA		collagen triple helix repeat containing 1							287.0	271.0	277.0					8																	104394752		2203	4300	6503	SO:0001587	stop_gained	115908					collagen		g.chr8:104394752C>G	BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.656C>G	8.37:g.104394752C>G	ENSP00000330523:p.Ser219*						p.S219*	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		4	755	+			219					G3V141|Q6UW91|Q8IX63	Nonsense_Mutation	SNP	ENST00000330295.5	37	c.656C>G	CCDS6299.1	.	.	.	.	.	.	.	.	.	.	C	34	5.362626	0.95877	.	.	ENSG00000164932	ENST00000330295;ENST00000520337;ENST00000297577;ENST00000520880	.	.	.	5.39	5.39	0.77823	.	0.331079	0.32868	N	0.005541	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-24.069	19.1494	0.93482	0.0:1.0:0.0:0.0	.	.	.	.	X	219;205;205;89	.	ENSP00000297577:S205X	S	+	2	0	CTHRC1	104463928	0.987000	0.35691	1.000000	0.80357	0.990000	0.78478	4.438000	0.59961	2.533000	0.85409	0.655000	0.94253	TCA		0.373	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	NM_138455		13	158	0	0	0	0	13	158				
LRRC14	9684	broad.mit.edu	37	8	145740836	145740836	+	5'Flank	SNP	C	C	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr8:145740836C>T	ENST00000292524.1	+	0	0				CTD-2517M22.17_ENST00000580385.1_RNA|LRRC14_ENST00000529022.1_5'Flank|RECQL4_ENST00000532237.1_5'UTR|RECQL4_ENST00000428558.2_Missense_Mutation_p.E422K	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14											endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTGTCTTCCTCACTTGCTGGG	0.612																																						uc003zdj.2		NA								N|F|S						osteosarcoma|skin basal and sqamous cell			0				breast(2)|lung(1)|skin(1)	4						c.(1264-1266)GAG>AAG	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RecQ protein-like 4							64.0	73.0	70.0					8																	145740836		2058	4202	6260	SO:0001631	upstream_gene_variant	9401	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145740836C>T	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179		8.37:g.145740836C>T	Exception_encountered					LRRC14_uc003zdk.1_5'Flank|LRRC14_uc003zdl.1_5'Flank	p.E422K	NM_004260	NP_004251	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		7	1296	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		422					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.1264G>A	CCDS6432.1																																																																																				0.612	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		7	85	0	0	0	0	7	85				
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971096	+	Nonsense_Mutation	SNP	C	C	A	rs121913384		TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr9:21971096C>A	ENST00000304494.5	-	2	532	c.262G>T	c.(262-264)Gag>Tag	p.E88*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143V|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E37*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102V|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G102V	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88			E -> D (in a biliary tract tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17																	1388	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(15)|Substitution - Missense(5)|Deletion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.0?(1112)|p.?(13)|p.E88*(13)|p.E88E(6)|p.E88K(3)|p.H83fs*2(2)|p.E88D(2)|p.E88A(1)|p.E88G(1)|p.D84_F90del(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.E88V(1)|p.E87K(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|upper_aerodigestive_tract(57)|soft_tissue(57)|oesophagus(56)|pleura(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(13)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(9)|meninges(9)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM034218	CDKN2A	M	rs121913384	c.(262-264)GAG>TAG		cyclin-dependent kinase inhibitor 2A isoform 1							13.0	16.0	15.0					9																	21971096		2176	4259	6435	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971096C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.262G>T	9.37:g.21971096C>A	ENSP00000307101:p.Glu88*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.G143V	p.E88*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	474	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	88		E -> D (in a biliary tract tumor).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.262G>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.530771|7.530771	0.98342|0.98342	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494;ENST00000446177|ENST00000361570;ENST00000530628	.|D;D	.|0.87412	.|-2.25;-2.14	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.215520	.|0.23483	.|N	.|0.047681	.|D	.|0.89287	.|0.6672	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.63880	.|0.993	.|P	.|0.58660	.|0.843	.|D	.|0.89966	.|0.4090	.|10	0.24483|0.87932	T|D	0.36|0	.|.	19.1221|19.1221	0.93367|0.93367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|143	.|Q8N726	.|CD2A2_HUMAN	X|V	88|143;102	.|ENSP00000355153:G143V;ENSP00000432664:G102V	ENSP00000307101:E88X|ENSP00000355153:G143V	E|G	-|-	1|2	0|0	CDKN2A|CDKN2A	21961096|21961096	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.901000|3.901000	0.56303|0.56303	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.756	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		6	11	1	0	8.13e-05	9.09e-05	6	11				
PRUNE2	158471	broad.mit.edu	37	9	79324742	79324742	+	Nonsense_Mutation	SNP	C	C	T	rs267602277		TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr9:79324742C>T	ENST00000376718.3	-	8	2571	c.2448G>A	c.(2446-2448)tgG>tgA	p.W816*	PRUNE2_ENST00000428286.1_Nonsense_Mutation_p.W457*	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	816					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGTGCAAATTCCAGGTATTTT	0.468																																						uc010mpk.2		NA																	0					0						c.(2446-2448)TGG>TGA		prune homolog 2							52.0	48.0	49.0					9																	79324742		1568	3582	5150	SO:0001587	stop_gained	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79324742C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2448G>A	9.37:g.79324742C>T	ENSP00000365908:p.Trp816*						p.W816*	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	2572	-			816					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Nonsense_Mutation	SNP	ENST00000376718.3	37	c.2448G>A	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.191263|4.191263	0.78902|0.78902	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.45606	.|D	.|0.000342	T|.	0.46386|.	0.1390|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35325|.	-0.9793|.	4|.	.|0.02654	.|T	.|1	-5.2891|-5.2891	17.8893|17.8893	0.88866|0.88866	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	138|816;457;815	.|.	.|ENSP00000365908:W816X	E|W	-|-	1|3	0|0	PRUNE2|PRUNE2	78514562|78514562	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.546000|0.546000	0.35178|0.35178	4.770000|4.770000	0.62309|0.62309	2.664000|2.664000	0.90586|0.90586	0.462000|0.462000	0.41574|0.41574	GAA|TGG		0.468	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		8	29	0	0	0	0	8	29				
SPATA31E1	286234	broad.mit.edu	37	9	90502130	90502130	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr9:90502130A>G	ENST00000325643.5	+	4	2794	c.2728A>G	c.(2728-2730)Agc>Ggc	p.S910G		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	910					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAGAACAACAAGCAAGTCAGT	0.602																																						uc004app.3		NA																	0				ovary(3)	3						c.(2728-2730)AGC>GGC		chromosome 9 open reading frame 79							56.0	57.0	56.0					9																	90502130		2203	4300	6503	SO:0001583	missense	286234					integral to membrane		g.chr9:90502130A>G	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2728A>G	9.37:g.90502130A>G	ENSP00000322640:p.Ser910Gly					C9orf79_uc004apo.1_Missense_Mutation_p.S722G	p.S910G	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	2763	+			910					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.2728A>G	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	a	6.080	0.383009	0.11524	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.03468	3.92	2.57	1.33	0.21861	.	2.539230	0.01413	N	0.014081	T	0.02970	0.0088	N	0.14661	0.345	0.09310	N	1	B;P	0.40834	0.213;0.73	B;B	0.38020	0.043;0.263	T	0.35724	-0.9777	10	0.31617	T	0.26	.	5.3952	0.16265	0.7042:0.2958:0.0:0.0	.	910;562	Q6ZUB1;Q8NA33	CI079_HUMAN;.	G	910;562	ENSP00000322640:S910G	ENSP00000322640:S910G	S	+	1	0	C9orf79	89691950	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.112000	0.15479	0.365000	0.24400	0.455000	0.32223	AGC		0.602	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		4	49	0	0	0	0	4	49				
PTCH1	5727	broad.mit.edu	37	9	98239831	98239831	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr9:98239831G>C	ENST00000331920.6	-	10	1800	c.1501C>G	c.(1501-1503)Cag>Gag	p.Q501E	PTCH1_ENST00000418258.1_Missense_Mutation_p.Q350E|PTCH1_ENST00000429896.2_Missense_Mutation_p.Q350E|PTCH1_ENST00000421141.1_Missense_Mutation_p.Q350E|PTCH1_ENST00000375274.2_Missense_Mutation_p.Q500E|PTCH1_ENST00000437951.1_Missense_Mutation_p.Q435E|PTCH1_ENST00000430669.2_Missense_Mutation_p.Q435E|PTCH1_ENST00000548379.1_5'Flank	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	501	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TTTAGTACCTGAGTTGTTGCA	0.582																																						uc004avk.3		NA																	0				skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(1501-1503)CAG>GAG		patched isoform L							63.0	68.0	66.0					9																	98239831		2203	4300	6503	SO:0001583	missense	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98239831G>C	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1501C>G	9.37:g.98239831G>C	ENSP00000332353:p.Gln501Glu					PTCH1_uc010mro.2_Missense_Mutation_p.Q350E|PTCH1_uc010mrp.2_Missense_Mutation_p.Q350E|PTCH1_uc010mrq.2_Missense_Mutation_p.Q350E|PTCH1_uc004avl.3_Missense_Mutation_p.Q350E|PTCH1_uc010mrr.2_Missense_Mutation_p.Q435E|PTCH1_uc004avm.3_Missense_Mutation_p.Q500E|PTCH1_uc010mrs.1_Intron	p.Q501E	NM_000264	NP_000255	Q13635	PTC1_HUMAN			10	1689	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	501			Extracellular (Potential).|SSD.		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.1501C>G	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896674	0.91962	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	5.06	5.06	0.68205	Sterol-sensing domain (1);	0.111909	0.64402	D	0.000006	D	0.95124	0.8420	L	0.39692	1.235	0.80722	D	1	D;P;D	0.69078	0.992;0.853;0.997	D;P;D	0.71414	0.932;0.681;0.973	D	0.92261	0.5817	10	0.11485	T	0.65	-21.6948	18.6256	0.91336	0.0:0.0:1.0:0.0	.	435;500;501	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	E	501;435;350;350;435;350;500	ENSP00000332353:Q501E;ENSP00000389744:Q435E;ENSP00000399981:Q350E;ENSP00000396135:Q350E;ENSP00000410287:Q435E;ENSP00000414823:Q350E;ENSP00000364423:Q500E	ENSP00000332353:Q501E	Q	-	1	0	PTCH1	97279652	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.263000	0.95617	2.619000	0.88677	0.655000	0.94253	CAG		0.582	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		6	35	0	0	0	0	6	35				
NLGN4X	57502	broad.mit.edu	37	X	6069195	6069195	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chrX:6069195G>T	ENST00000381095.3	-	2	940	c.313C>A	c.(313-315)Cag>Aag	p.Q105K	NLGN4X_ENST00000538097.1_Missense_Mutation_p.Q105K|NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381092.1_Missense_Mutation_p.Q105K|NLGN4X_ENST00000275857.6_Missense_Mutation_p.Q105K|NLGN4X_ENST00000381093.2_Missense_Mutation_p.Q105K	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	105					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GCAGCAAACTGAGTAGTATTT	0.557																																						uc010ndh.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(313-315)CAG>AAG		X-linked neuroligin 4 precursor							103.0	89.0	94.0					X																	6069195		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:6069195G>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.313C>A	X.37:g.6069195G>T	ENSP00000370485:p.Gln105Lys					NLGN4X_uc004crp.2_Missense_Mutation_p.Q105K|NLGN4X_uc004crq.2_Missense_Mutation_p.Q105K|NLGN4X_uc010ndi.2_Missense_Mutation_p.Q105K|NLGN4X_uc004crr.2_Missense_Mutation_p.Q105K|NLGN4X_uc010ndj.2_Missense_Mutation_p.Q105K	p.Q105K	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			2	814	-			105			Extracellular (Potential).		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.313C>A	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	3.238	-0.155879	0.06544	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	4.09	4.09	0.47781	Carboxylesterase, type B (1);	.	.	.	.	T	0.40791	0.1131	N	0.13140	0.3	0.58432	D	0.999997	B;B;B	0.22480	0.07;0.021;0.02	B;B;B	0.20384	0.029;0.017;0.017	T	0.34354	-0.9832	9	0.02654	T	1	.	14.8007	0.69913	0.0:0.0:1.0:0.0	.	105;105;105	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	K	105	ENSP00000370485:Q105K;ENSP00000370483:Q105K;ENSP00000275857:Q105K;ENSP00000370482:Q105K;ENSP00000439203:Q105K	ENSP00000275857:Q105K	Q	-	1	0	NLGN4X	6079195	1.000000	0.71417	0.424000	0.26647	0.046000	0.14306	8.047000	0.89440	1.660000	0.50760	0.600000	0.82982	CAG		0.557	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		11	31	1	0	2.81e-09	3.33e-09	11	31				
GRPR	2925	broad.mit.edu	37	X	16142365	16142365	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chrX:16142365G>A	ENST00000380289.2	+	1	687	c.289G>A	c.(289-291)Gat>Aat	p.D97N		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	97					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TGCTCCAGTGGATGCCAGCAG	0.502											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004cxj.2		NA																	0				ovary(3)|lung(1)	4						c.(289-291)GAT>AAT		gastrin-releasing peptide receptor							177.0	139.0	151.0					X																	16142365		2203	4300	6503	SO:0001583	missense	2925				cell proliferation	integral to plasma membrane	bombesin receptor activity	g.chrX:16142365G>A		CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.289G>A	X.37:g.16142365G>A	ENSP00000369643:p.Asp97Asn		OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	708		p.D97N	NM_005314	NP_005305	P30550	GRPR_HUMAN			1	942	+	Hepatocellular(33;0.183)		97			Extracellular (Potential).		B2R910	Missense_Mutation	SNP	ENST00000380289.2	37	c.289G>A	CCDS14174.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972302	0.92919	.	.	ENSG00000126010	ENST00000380289	T	0.36699	1.24	5.82	5.82	0.92795	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	L	0.33137	0.985	0.80722	D	1	D	0.60575	0.988	P	0.61722	0.893	T	0.30534	-0.9975	10	0.37606	T	0.19	-15.9429	17.9431	0.89031	0.0:0.0:1.0:0.0	.	97	P30550	GRPR_HUMAN	N	97	ENSP00000369643:D97N	ENSP00000369643:D97N	D	+	1	0	GRPR	16052286	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	9.869000	0.99810	2.458000	0.83093	0.600000	0.82982	GAT		0.502	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055901.1	NM_005314		36	27	0	0	0	0	36	27				
IL1RAPL2	26280	broad.mit.edu	37	X	104993010	104993010	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chrX:104993010T>C	ENST00000372582.1	+	9	1862	c.1106T>C	c.(1105-1107)gTa>gCa	p.V369A	IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.V369A	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	369					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTCCTCCTTGTACTGCTGGTG	0.413																																						uc004elz.1		NA																	0				breast(2)|ovary(1)	3						c.(1105-1107)GTA>GCA		interleukin 1 receptor accessory protein-like 2							119.0	96.0	104.0					X																	104993010		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104993010T>C	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1106T>C	X.37:g.104993010T>C	ENSP00000361663:p.Val369Ala						p.V369A	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			9	1862	+			369			Helical; (Potential).		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1106T>C	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.813020	0.32053	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.03772	3.81;3.81	5.82	3.4	0.38934	.	0.586739	0.17125	N	0.186072	T	0.03871	0.0109	L	0.28014	0.82	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44360	-0.9333	10	0.42905	T	0.14	.	6.4538	0.21918	0.1412:0.0763:0.0:0.7825	.	369	Q9NP60	IRPL2_HUMAN	A	369	ENSP00000361663:V369A;ENSP00000344976:V369A	ENSP00000344976:V369A	V	+	2	0	IL1RAPL2	104879666	1.000000	0.71417	0.075000	0.20258	0.539000	0.34962	3.897000	0.56273	0.300000	0.22699	0.481000	0.45027	GTA		0.413	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		6	44	0	0	0	0	6	44				
GPR101	83550	broad.mit.edu	37	X	136113430	136113430	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chrX:136113430T>C	ENST00000298110.1	-	1	403	c.404A>G	c.(403-405)cAc>cGc	p.H135R		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGAGAGAGGGTGGATGATGGA	0.592																																						uc011mwh.1		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(403-405)CAC>CGC		G protein-coupled receptor 101							80.0	59.0	66.0					X																	136113430		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113430T>C	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.404A>G	X.37:g.136113430T>C	ENSP00000298110:p.His135Arg						p.H135R	NM_054021	NP_473362	Q96P66	GP101_HUMAN			1	404	-	Acute lymphoblastic leukemia(192;0.000127)		135			Cytoplasmic (Potential).		Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.404A>G	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.791034	0.70452	.	.	ENSG00000165370	ENST00000298110	T	0.38401	1.14	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35378	N	0.003244	T	0.21550	0.0519	N	0.20807	0.61	0.43868	D	0.996476	P	0.38729	0.644	B	0.39419	0.299	T	0.06807	-1.0806	10	0.02654	T	1	-22.4672	11.7368	0.51769	0.0:0.0:0.0:1.0	.	135	Q96P66	GP101_HUMAN	R	135	ENSP00000298110:H135R	ENSP00000298110:H135R	H	-	2	0	GPR101	135941096	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.766000	0.68843	1.671000	0.50874	0.486000	0.48141	CAC		0.592	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			7	12	0	0	0	0	7	12				
SLITRK2	84631	broad.mit.edu	37	X	144906200	144906200	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chrX:144906200G>C	ENST00000370490.1	+	1	6512	c.2257G>C	c.(2257-2259)Gag>Cag	p.E753Q	TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000434188.2_Missense_Mutation_p.E753Q|SLITRK2_ENST00000428560.2_Missense_Mutation_p.E753Q|SLITRK2_ENST00000447897.2_Missense_Mutation_p.E753Q|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E753Q			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	753					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAGAGCCTGAGCTGCTGTA	0.488																																						uc004fcd.2		NA																	0				ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(2257-2259)GAG>CAG		SLIT and NTRK-like family, member 2 precursor							148.0	141.0	144.0					X																	144906200		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144906200G>C	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2257G>C	X.37:g.144906200G>C	ENSP00000359521:p.Glu753Gln					SLITRK2_uc010nsp.2_Missense_Mutation_p.E753Q|SLITRK2_uc010nso.2_Missense_Mutation_p.E753Q|SLITRK2_uc011mwq.1_Missense_Mutation_p.E753Q|SLITRK2_uc011mwr.1_Missense_Mutation_p.E753Q|SLITRK2_uc011mws.1_Missense_Mutation_p.E753Q|SLITRK2_uc004fcg.2_Missense_Mutation_p.E753Q|SLITRK2_uc011mwt.1_Missense_Mutation_p.E753Q|CXorf1_uc004fch.2_5'Flank	p.E753Q	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	3247	+	Acute lymphoblastic leukemia(192;6.56e-05)		753			Cytoplasmic (Potential).		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.2257G>C	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471723	0.43942	.	.	ENSG00000185985	ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.46210	0.1381	L	0.54323	1.7	0.58432	D	0.999998	B	0.28880	0.226	B	0.28709	0.093	T	0.44050	-0.9353	10	0.51188	T	0.08	-10.9081	15.765	0.78120	0.0:0.0:1.0:0.0	.	753	Q9H156	SLIK2_HUMAN	Q	753	ENSP00000411681:E753Q;ENSP00000359521:E753Q;ENSP00000397015:E753Q;ENSP00000407347:E753Q;ENSP00000412010:E753Q	ENSP00000359521:E753Q	E	+	1	0	SLITRK2	144713892	1.000000	0.71417	0.975000	0.42487	0.952000	0.60782	5.885000	0.69736	2.320000	0.78422	0.600000	0.82982	GAG		0.488	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		13	98	0	0	0	0	13	98				
TEX19	400629	broad.mit.edu	37	17	80320301	80320302	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr17:80320301_80320302insG	ENST00000333437.4	+	2	585_586	c.275_276insG	c.(274-279)caggggfs	p.QG92fs		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	92					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						CAGCCTGTGCAGGGGGGCTCTG	0.649																																						uc002keq.2		NA																	0					0						c.(274-276)CAGfs		testis expressed 19																																				SO:0001589	frameshift_variant	400629					nucleus		g.chr17:80320301_80320302insG	BC016939	CCDS11809.1	17q25.3	2009-04-14			ENSG00000182459	ENSG00000182459			33802	protein-coding gene	gene with protein product		615647					Standard	NM_207459		Approved	FLJ35767	uc002keq.3	Q8NA77	OTTHUMG00000132857	ENST00000333437.4:c.281dupG	17.37:g.80320307_80320307dupG	ENSP00000331500:p.Gln92fs						p.Q92fs	NM_207459	NP_997342	Q8NA77	TEX19_HUMAN			2	584_585	+			92						Frame_Shift_Ins	INS	ENST00000333437.4	37	c.275_276insG	CCDS11809.1																																																																																				0.649	TEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256331.1	NM_207459		12	81	NA	NA	NA	NA	12	81	---	---	---	---
PPP4R1	9989	broad.mit.edu	37	18	9559423	9559424	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr18:9559423_9559424insT	ENST00000400556.3	-	14	2094_2095	c.2021_2022insA	c.(2020-2022)gacfs	p.D674fs	PPP4R1_ENST00000400555.3_Frame_Shift_Ins_p.D657fs	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	674					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						TCACCTGCATGTCTGAGGCCAG	0.46																																					Melanoma(188;1232 2082 5061 11948 35994)	uc002koe.1		NA																	0				skin(1)	1						c.(2020-2022)GACfs		protein phosphatase 4, regulatory subunit 1																																				SO:0001589	frameshift_variant	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9559423_9559424insT	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.2022dupA	18.37:g.9559424_9559424dupT	ENSP00000383402:p.Asp674fs					PPP4R1_uc002kof.2_Frame_Shift_Ins_p.D91fs|PPP4R1_uc010wzo.1_Frame_Shift_Ins_p.D520fs|PPP4R1_uc002kod.1_Frame_Shift_Ins_p.D657fs|PPP4R1_uc010wzp.1_RNA	p.D674fs	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN			14	2139_2140	-			674					Q99774|Q9UNQ7	Frame_Shift_Ins	INS	ENST00000400556.3	37	c.2021_2022insA	CCDS42412.1																																																																																				0.460	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		146	161	NA	NA	NA	NA	146	161	---	---	---	---
UBA52	7311	broad.mit.edu	37	19	18685943	18685945	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:18685943_18685945delAAG	ENST00000442744.2	+	5	428_430	c.370_372delAAG	c.(370-372)aagdel	p.K126del	UBA52_ENST00000599551.1_In_Frame_Del_p.K126del|UBA52_ENST00000596273.1_In_Frame_Del_p.K126del|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000599595.1_In_Frame_Del_p.K126del|UBA52_ENST00000595158.1_In_Frame_Del_p.K126del|UBA52_ENST00000598780.1_In_Frame_Del_p.K126del|UBA52_ENST00000597451.1_In_Frame_Del_p.K126del|UBA52_ENST00000595683.1_In_Frame_Del_p.K126del|UBA52_ENST00000596304.1_In_Frame_Del_p.K126del|UBA52_ENST00000430157.2_In_Frame_Del_p.K126del	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	126					activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)	3						CCTGCGTCCCAAGAAGAAGGTCA	0.567																																						uc002njr.2		NA																	0					0						c.(370-372)AAGdel		ubiquitin and ribosomal protein L40 precursor																																				SO:0001651	inframe_deletion	7311				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome	g.chr19:18685943_18685945delAAG		CCDS12382.1	19p13.1-p12	2011-04-06			ENSG00000221983	ENSG00000221983		"""L ribosomal proteins"""	12458	protein-coding gene	gene with protein product	"""ribosomal protein L40"", ""ubiquitin-52 amino acid fusion protein"", ""ubiquitin carboxyl extension protein 52"", ""60S ribosomal protein L40"", ""ubiquitin-CEP52"""	191321				8188300	Standard	XM_005260051		Approved	RPL40, CEP52, HUBCEP52, MGC57125, MGC126879, MGC126881, L40	uc002njs.3	P62987		ENST00000442744.2:c.370_372delAAG	19.37:g.18685949_18685951delAAG	ENSP00000388107:p.Lys126del					UBA52_uc002njs.2_In_Frame_Del_p.K126del|UBA52_uc002njt.2_In_Frame_Del_p.K126del	p.K126del	NM_001033930	NP_001029102	P62987	RL40_HUMAN			5	484_486	+			126					P02248|P02249|P02250|P14793|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	In_Frame_Del	DEL	ENST00000442744.2	37	c.370_372delAAG	CCDS12382.1																																																																																				0.567	UBA52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465117.2	NM_003333		9	58	NA	NA	NA	NA	9	58	---	---	---	---
ACPT	93650	broad.mit.edu	37	19	51298400	51298401	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr19:51298400_51298401delGG	ENST00000270593.1	+	11	1266_1267	c.1266_1267delGG	c.(1264-1269)ttggggfs	p.G424fs	CTD-2568A17.8_ENST00000594114.1_RNA|ACPT_ENST00000270594.3_Frame_Shift_Del_p.G331fs	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	424						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGCGGGCCTTGGGGGGCCCCGT	0.649																																						uc002pta.1		NA																	0					0						c.(1264-1269)TTGGGGfs		testicular acid phosphatase precursor																																				SO:0001589	frameshift_variant	93650					integral to membrane	acid phosphatase activity	g.chr19:51298400_51298401delGG	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.1266_1267delGG	19.37:g.51298404_51298405delGG	ENSP00000270593:p.Gly424fs						p.L422fs	NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	11	1266_1267	+		all_neural(266;0.057)	422_423			Cytoplasmic (Potential).		C0H3P7|Q9BZG3|Q9BZG4	Frame_Shift_Del	DEL	ENST00000270593.1	37	c.1266_1267delGG	CCDS12802.1																																																																																				0.649	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068		2	4	NA	NA	NA	NA	2	4	---	---	---	---
MORC3	23515	broad.mit.edu	37	21	37741775	37741775	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr21:37741775delA	ENST00000400485.1	+	15	2185	c.2109delA	c.(2107-2109)ctafs	p.L705fs	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	705					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GAAACCAGCTACTCCTTGTCA	0.388																																						uc002yvi.2		NA																	0				ovary(2)	2						c.(2107-2109)CTAfs		MORC family CW-type zinc finger 3							83.0	74.0	77.0					21																	37741775		1905	4126	6031	SO:0001589	frameshift_variant	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37741775delA	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.2109delA	21.37:g.37741775delA	ENSP00000383333:p.Leu705fs						p.L703fs	NM_015358	NP_056173	Q14149	MORC3_HUMAN			15	2185	+			703			Potential.		A8KA92|Q9UEZ2	Frame_Shift_Del	DEL	ENST00000400485.1	37	c.2109delA	CCDS42924.1																																																																																				0.388	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		35	34	NA	NA	NA	NA	35	34	---	---	---	---
SRRT	51593	broad.mit.edu	37	7	100473251	100473274	+	In_Frame_Del	DEL	GACAAGTTCAGAAGAGAGCGCAGC	GACAAGTTCAGAAGAGAGCGCAGC	-			TCGA-CN-6012-01A-11D-1683-08	TCGA-CN-6012-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5d99faa-ef68-4f08-af97-d722bcc383f5	ecf5b1b2-34a4-45f0-8e1a-abfff67dec3b	g.chr7:100473251_100473274delGACAAGTTCAGAAGAGAGCGCAGC	ENST00000347433.4	+	2	198_221	c.40_63delGACAAGTTCAGAAGAGAGCGCAGC	c.(40-63)gacaagttcagaagagagcgcagcdel	p.DKFRRERS14del	SRRT_ENST00000388793.4_In_Frame_Del_p.DKFRRERS14del|SRRT_ENST00000457580.2_In_Frame_Del_p.DKFRRERS14del|SRRT_ENST00000432932.1_In_Frame_Del_p.DKFRRERS14del			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	14	Arg-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AAGGCGCAGGGACAAGTTCAGAAGAGAGCGCAGCGACTACGACC	0.58																																						uc003uwy.2		NA																	0				ovary(2)	2						c.(40-63)GACAAGTTCAGAAGAGAGCGCAGCdel		arsenate resistance protein 2 isoform a																																				SO:0001651	inframe_deletion	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100473251_100473274delGACAAGTTCAGAAGAGAGCGCAGC		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.40_63delGACAAGTTCAGAAGAGAGCGCAGC	7.37:g.100473251_100473274delGACAAGTTCAGAAGAGAGCGCAGC	ENSP00000314491:p.Asp14_Ser21del					SRRT_uc010lhl.1_In_Frame_Del_p.DKFRRERS14del|SRRT_uc003uxa.2_In_Frame_Del_p.DKFRRERS14del|SRRT_uc003uwz.2_In_Frame_Del_p.DKFRRERS14del	p.DKFRRERS14del	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN			3	308_331	+			14_21			Arg-rich.		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	In_Frame_Del	DEL	ENST00000347433.4	37	c.40_63delGACAAGTTCAGAAGAGAGCGCAGC	CCDS34709.1																																																																																				0.580	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		32	93	NA	NA	NA	NA	32	93	---	---	---	---
