#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
PER3	8863	broad.mit.edu	37	1	7870006	7870006	+	Silent	SNP	G	G	T	rs139242507		TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:7870006G>T	ENST00000361923.2	+	11	1468	c.1293G>T	c.(1291-1293)tcG>tcT	p.S431S	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Silent_p.S432S	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	431					circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCGGGTCGCAGGAGCAGC	0.592																																						uc001aoo.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1291-1293)TCG>TCT		period 3							56.0	55.0	56.0					1																	7870006		2203	4300	6503	SO:0001819	synonymous_variant	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7870006G>T	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.1293G>T	1.37:g.7870006G>T						PER3_uc009vmg.1_Silent_p.S432S|PER3_uc009vmh.1_Silent_p.S432S|PER3_uc001aop.2_Silent_p.S432S|PER3_uc010nzw.1_Silent_p.S113S	p.S431S	NM_016831	NP_058515	P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	11	1468	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	431					Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Silent	SNP	ENST00000361923.2	37	c.1293G>T	CCDS89.1																																																																																				0.592	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		11	34	1	0	9.7e-10	2.03e-09	11	34				
PRAMEF12	390999	broad.mit.edu	37	1	12837316	12837316	+	Silent	SNP	G	G	A	rs201412674		TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:12837316G>A	ENST00000357726.4	+	3	1053	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	342					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L342L(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCAGTTCTGCTGGAGCAAG	0.587																																						uc001aui.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1024-1026)CTG>CTA		PRAME family member 12							82.0	84.0	84.0					1																	12837316		2203	4300	6503	SO:0001819	synonymous_variant	390999							g.chr1:12837316G>A		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1026G>A	1.37:g.12837316G>A							p.L342L	NM_001080830	NP_001074299	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1053	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	342						Silent	SNP	ENST00000357726.4	37	c.1026G>A	CCDS41254.1																																																																																				0.587	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		16	55	0	0	0	0	16	55				
PRAMEF1	65121	broad.mit.edu	37	1	12855677	12855677	+	Silent	SNP	C	C	G	rs142654121		TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:12855677C>G	ENST00000332296.7	+	4	1060	c.957C>G	c.(955-957)ctC>ctG	p.L319L	PRAMEF1_ENST00000400814.3_Silent_p.L74L	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	319					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCAAGCCTCGGTTACCTAA	0.493																																						uc001auj.1		NA																	0					0						c.(955-957)CTC>CTG		PRAME family member 1							56.0	62.0	60.0					1																	12855677		2196	4288	6484	SO:0001819	synonymous_variant	65121							g.chr1:12855677C>G	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.957C>G	1.37:g.12855677C>G							p.L319L	NM_023013	NP_075389	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1060	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	319			LRR 1.		Q9UQP2	Silent	SNP	ENST00000332296.7	37	c.957C>G	CCDS148.1																																																																																				0.493	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		23	110	0	0	0	0	23	110				
MAGI3	260425	broad.mit.edu	37	1	114184803	114184803	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:114184803C>T	ENST00000307546.9	+	10	1706	c.1631C>T	c.(1630-1632)tCg>tTg	p.S544L	MAGI3_ENST00000369617.4_Missense_Mutation_p.S569L|MAGI3_ENST00000369611.4_Missense_Mutation_p.S544L|MAGI3_ENST00000369615.1_Missense_Mutation_p.S544L	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	569					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATGGAAAATCGGGACACACT	0.493																																						uc001edk.2		NA																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(1630-1632)TCG>TTG		membrane-associated guanylate kinase-related  3							123.0	122.0	123.0					1																	114184803		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114184803C>T	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1631C>T	1.37:g.114184803C>T	ENSP00000304604:p.Ser544Leu					MAGI3_uc001edh.3_Missense_Mutation_p.S569L|MAGI3_uc001edi.3_Missense_Mutation_p.S544L|MAGI3_uc010owm.1_Missense_Mutation_p.S569L|MAGI3_uc001edj.2_Missense_Mutation_p.S265L	p.S544L	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1812	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	569					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.1631C>T	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351162	0.24512	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.17213	2.42;2.29;2.45;2.45	5.6	4.61	0.57282	.	0.323120	0.36665	N	0.002466	T	0.02727	0.0082	N	0.03608	-0.345	0.27648	N	0.947484	B;B;B	0.14012	0.009;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.37842	-0.9688	10	0.36615	T	0.2	-16.8108	12.9552	0.58424	0.0:0.9124:0.0:0.0876	.	544;544;569	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	L	569;544;544;544	ENSP00000358630:S569L;ENSP00000304604:S544L;ENSP00000358628:S544L;ENSP00000358624:S544L	ENSP00000304604:S544L	S	+	2	0	MAGI3	113986326	0.000000	0.05858	0.562000	0.28370	0.978000	0.69477	0.806000	0.27126	1.353000	0.45828	0.650000	0.86243	TCG		0.493	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		28	79	0	0	0	0	28	79				
HMGCS2	3158	broad.mit.edu	37	1	120296002	120296002	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:120296002C>A	ENST00000369406.3	-	7	1244	c.1195G>T	c.(1195-1197)Gcc>Tcc	p.A399S	HMGCS2_ENST00000476640.1_5'Flank|HMGCS2_ENST00000544913.2_Missense_Mutation_p.A357S	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	399					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		AGTTCTTGGGCAGAGTGGCTG	0.438																																						uc001eid.2		NA																	0				ovary(2)	2						c.(1195-1197)GCC>TCC		hydroxymethylglutaryl-CoA synthase 2 isoform 1							51.0	52.0	52.0					1																	120296002		2203	4300	6503	SO:0001583	missense	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120296002C>A	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.1195G>T	1.37:g.120296002C>A	ENSP00000358414:p.Ala399Ser					HMGCS2_uc010oxj.1_Missense_Mutation_p.A357S|HMGCS2_uc001eie.2_Missense_Mutation_p.A307S	p.A399S	NM_005518	NP_005509	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	7	1246	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	399					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	ENST00000369406.3	37	c.1195G>T	CCDS905.1	.	.	.	.	.	.	.	.	.	.	C	2.752	-0.259883	0.05791	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	T;T	0.76316	-1.01;-1.01	5.39	4.43	0.53597	Hydroxymethylglutaryl-coenzyme A synthase C-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.390634	0.24559	N	0.037490	T	0.56124	0.1964	L	0.33245	0.995	0.40235	D	0.977896	B;B	0.21520	0.057;0.003	B;B	0.31442	0.1;0.13	T	0.51466	-0.8702	10	0.14656	T	0.56	-21.4794	14.316	0.66452	0.0:0.7449:0.2551:0.0	.	357;399	B7Z8R3;P54868	.;HMCS2_HUMAN	S	399;357	ENSP00000358414:A399S;ENSP00000439495:A357S	ENSP00000358414:A399S	A	-	1	0	HMGCS2	120097525	1.000000	0.71417	0.999000	0.59377	0.125000	0.20455	2.432000	0.44784	2.676000	0.91093	0.462000	0.41574	GCC		0.438	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		9	23	1	0	1.34e-11	2.81e-11	9	23				
THEM4	117145	broad.mit.edu	37	1	151867562	151867562	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:151867562C>T	ENST00000368814.3	-	2	557	c.208G>A	c.(208-210)Gac>Aac	p.D70N	THEM4_ENST00000489410.1_Missense_Mutation_p.D70N	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	70					epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein kinase B signaling (GO:0043491)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	cell projection (GO:0042995)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGGAGCCGTCTTCACATTTC	0.433																																						uc001ezj.1		NA																	0					0						c.(208-210)GAC>AAC		thioesterase superfamily member 4							102.0	99.0	100.0					1																	151867562		2203	4298	6501	SO:0001583	missense	117145				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane		g.chr1:151867562C>T	AJ313515	CCDS1006.1	1q21.3	2008-02-05			ENSG00000159445	ENSG00000159445			17947	protein-coding gene	gene with protein product	"""C-terminal modulator protein"""	606388				11598301	Standard	NM_053055		Approved	CTMP	uc001ezj.2	Q5T1C6	OTTHUMG00000013049	ENST00000368814.3:c.208G>A	1.37:g.151867562C>T	ENSP00000357804:p.Asp70Asn					THEM4_uc001ezk.1_RNA	p.D70N	NM_053055	NP_444283	Q5T1C6	THEM4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	387	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		70					B2RBX2|Q96KR2	Missense_Mutation	SNP	ENST00000368814.3	37	c.208G>A	CCDS1006.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164063	0.78339	.	.	ENSG00000159445	ENST00000368814;ENST00000489410	T;T	0.26518	1.84;1.73	4.16	4.16	0.48862	.	0.414693	0.26079	N	0.026465	T	0.13670	0.0331	L	0.54908	1.71	0.38902	D	0.957338	P	0.38922	0.651	B	0.38428	0.273	T	0.02632	-1.1131	10	0.24483	T	0.36	-16.359	12.2685	0.54691	0.0:1.0:0.0:0.0	.	70	Q5T1C6	THEM4_HUMAN	N	70	ENSP00000357804:D70N;ENSP00000433304:D70N	ENSP00000357804:D70N	D	-	1	0	THEM4	150134186	0.995000	0.38212	0.997000	0.53966	0.718000	0.41266	1.809000	0.38922	2.606000	0.88127	0.650000	0.86243	GAC		0.433	THEM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036615.1	NM_053055		4	89	0	0	0	0	4	89				
TCHHL1	126637	broad.mit.edu	37	1	152058810	152058810	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:152058810C>T	ENST00000368806.1	-	3	1412	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	450							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCTCCTCCTTCTGAGCTTAGA	0.448																																						uc001ezo.1		NA																	0				ovary(1)|skin(1)	2						c.(1348-1350)GAA>AAA		trichohyalin-like 1							231.0	217.0	222.0					1																	152058810		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152058810C>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1348G>A	1.37:g.152058810C>T	ENSP00000357796:p.Glu450Lys						p.E450K	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	1413	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		450					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.1348G>A	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	17.19	3.327552	0.60743	.	.	ENSG00000182898	ENST00000368806	T	0.24908	1.83	5.59	2.68	0.31781	.	1.007230	0.07997	N	0.988042	T	0.06280	0.0162	L	0.48642	1.525	0.09310	N	1	P	0.34977	0.478	B	0.29524	0.103	T	0.34428	-0.9829	10	0.09338	T	0.73	-4.5167	7.3629	0.26756	0.0:0.5853:0.328:0.0867	.	450	Q5QJ38	TCHL1_HUMAN	K	450	ENSP00000357796:E450K	ENSP00000357796:E450K	E	-	1	0	TCHHL1	150325434	0.224000	0.23674	0.088000	0.20740	0.197000	0.23852	0.722000	0.25925	0.709000	0.31976	-0.172000	0.13284	GAA		0.448	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		18	192	0	0	0	0	18	192				
CFAP45	25790	broad.mit.edu	37	1	159857775	159857775	+	Silent	SNP	G	G	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:159857775G>T	ENST00000368099.4	-	5	508	c.444C>A	c.(442-444)atC>atA	p.I148I	CCDC19_ENST00000426543.2_Silent_p.I63I|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCTGTTTCATGATCTTCTTTC	0.542																																						uc001fui.2		NA																	0				ovary(1)	1						c.(442-444)ATC>ATA		nasopharyngeal epithelium specific protein 1							241.0	199.0	213.0					1																	159857775		2203	4300	6503	SO:0001819	synonymous_variant	25790					mitochondrion|soluble fraction		g.chr1:159857775G>T																												ENST00000368099.4:c.444C>A	1.37:g.159857775G>T						CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Silent_p.I63I|CCDC19_uc001ful.2_Silent_p.I63I|CCDC19_uc009wtc.1_Silent_p.I148I	p.I148I	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		5	462	-	all_hematologic(112;0.0597)		148						Silent	SNP	ENST00000368099.4	37	c.444C>A	CCDS30914.1																																																																																				0.542	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			29	54	1	0	1.56e-20	3.33e-20	29	54				
SELE	6401	broad.mit.edu	37	1	169701064	169701064	+	Silent	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:169701064G>A	ENST00000333360.7	-	4	580	c.441C>T	c.(439-441)tcC>tcT	p.S147S	SELE_ENST00000367781.4_Silent_p.S147S|SELE_ENST00000367775.1_Silent_p.S147S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Silent_p.S147S|SELE_ENST00000367777.1_Silent_p.S147S|SELE_ENST00000367782.4_Silent_p.S147S|SELE_ENST00000367779.4_Silent_p.S147S|SELE_ENST00000367776.1_Silent_p.S147S|SELE_ENST00000367780.4_Silent_p.S147S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	147	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GGCCACTGCAGGATGTATTGG	0.438																																						uc001ggm.3		NA																	0				ovary(3)|skin(2)	5						c.(439-441)TCC>TCT		selectin E precursor							117.0	99.0	105.0					1																	169701064		2203	4300	6503	SO:0001819	synonymous_variant	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169701064G>A	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.441C>T	1.37:g.169701064G>A						C1orf112_uc001ggj.2_Intron	p.S147S	NM_000450	NP_000441	P16581	LYAM2_HUMAN			4	598	-	all_hematologic(923;0.208)		147			EGF-like.|Extracellular (Potential).		A2RRD6|P16111	Silent	SNP	ENST00000333360.7	37	c.441C>T	CCDS1283.1																																																																																				0.438	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		11	20	0	0	0	0	11	20				
RABGAP1L	9910	broad.mit.edu	37	1	174606603	174606603	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:174606603G>A	ENST00000251507.4	+	14	1975	c.1801G>A	c.(1801-1803)Gaa>Aaa	p.E601K		NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AGATGGTCAAGAATCGCTCTA	0.358																																						uc001gjx.2		NA																	0				ovary(2)|lung(1)|kidney(1)	4						c.(1801-1803)GAA>AAA		RAB GTPase activating protein 1-like isoform A							110.0	98.0	102.0					1																	174606603		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174606603G>A	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1801G>A	1.37:g.174606603G>A	ENSP00000251507:p.Glu601Lys						p.E601K	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN			14	1996	+			601			Rab-GAP TBC.		B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.1801G>A	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	G	35	5.584360	0.96578	.	.	ENSG00000152061	ENST00000251507;ENST00000367692	T	0.11063	2.81	5.31	5.31	0.75309	Rab-GAP/TBC domain (4);	0.094138	0.64402	D	0.000001	T	0.19644	0.0472	L	0.39633	1.23	0.80722	D	1	P	0.52463	0.953	P	0.52957	0.714	T	0.00214	-1.1912	10	0.44086	T	0.13	.	18.9482	0.92630	0.0:0.0:1.0:0.0	.	601	Q5R372	RBG1L_HUMAN	K	601;613	ENSP00000251507:E601K	ENSP00000251507:E601K	E	+	1	0	RABGAP1L	172873226	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	8.955000	0.93058	2.641000	0.89580	0.655000	0.94253	GAA		0.358	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		16	57	0	0	0	0	16	57				
PRG4	10216	broad.mit.edu	37	1	186273956	186273956	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:186273956C>G	ENST00000445192.2	+	6	545	c.500C>G	c.(499-501)tCc>tGc	p.S167C	PRG4_ENST00000367483.4_Missense_Mutation_p.S126C|PRG4_ENST00000367486.3_Intron|PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367484.3_Missense_Mutation_p.S126C	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	167	Ser-rich.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGAGtcctcctcctcctcc	0.353																																						uc001gru.3		NA																	0				skin(1)	1						c.(499-501)TCC>TGC		proteoglycan 4 isoform A							52.0	54.0	53.0					1																	186273956		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186273956C>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.500C>G	1.37:g.186273956C>G	ENSP00000399679:p.Ser167Cys					PRG4_uc001grt.3_Missense_Mutation_p.S126C|PRG4_uc009wyl.2_Intron|PRG4_uc009wym.2_Intron|PRG4_uc010poo.1_RNA	p.S167C	NM_005807	NP_005798	Q92954	PRG4_HUMAN			6	551	+			167			Ser-rich.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.500C>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224285	0.58668	.	.	ENSG00000116690	ENST00000367484;ENST00000533951;ENST00000367483;ENST00000445192	T;T;T;T	0.48836	3.48;0.8;3.44;3.45	5.07	5.07	0.68467	.	.	.	.	.	T	0.53334	0.1790	L	0.27053	0.805	0.24245	N	0.99535	D;D	0.89917	1.0;1.0	D;D	0.80764	0.987;0.994	T	0.42666	-0.9438	9	0.49607	T	0.09	.	9.6163	0.39694	0.0:0.9045:0.0:0.0955	.	167;126	Q92954;Q92954-2	PRG4_HUMAN;.	C	126;76;126;167	ENSP00000356454:S126C;ENSP00000431330:S76C;ENSP00000356453:S126C;ENSP00000399679:S167C	ENSP00000356453:S126C	S	+	2	0	PRG4	184540579	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.481000	0.53179	2.354000	0.79902	0.650000	0.86243	TCC		0.353	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		4	40	0	0	0	0	4	40				
CDC73	79577	broad.mit.edu	37	1	193104562	193104562	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:193104562G>A	ENST00000367435.3	+	4	533	c.349G>A	c.(349-351)Ggt>Agt	p.G117S	MIR1278_ENST00000408753.1_RNA	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	117					cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						CTTAGAAATAGGTCTTCAGCG	0.333																																						uc001gtb.2		NA																	0				parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						c.(349-351)GGT>AGT		parafibromin							99.0	95.0	96.0					1																	193104562		2203	4300	6503	SO:0001583	missense	79577	Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome			cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193104562G>A	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.349G>A	1.37:g.193104562G>A	ENSP00000356405:p.Gly117Ser					MIR1278_hsa-mir-1278|MI0006425_5'Flank	p.G117S	NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN			4	592	+			117					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.349G>A	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193774	0.58017	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.83837	-1.77	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.76863	0.4047	L	0.40543	1.245	0.80722	D	1	B	0.23058	0.079	B	0.21917	0.037	T	0.71761	-0.4495	10	0.07030	T	0.85	-15.4804	19.8309	0.96634	0.0:0.0:1.0:0.0	.	117	Q6P1J9	CDC73_HUMAN	S	117	ENSP00000356405:G117S	ENSP00000356405:G117S	G	+	1	0	CDC73	191371185	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.684000	0.91462	0.650000	0.86243	GGT		0.333	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		23	42	0	0	0	0	23	42				
ASPM	259266	broad.mit.edu	37	1	197115445	197115445	+	Silent	SNP	G	G	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:197115445G>C	ENST00000367409.4	-	1	379	c.123C>G	c.(121-123)ctC>ctG	p.L41L	ASPM_ENST00000294732.7_Silent_p.L41L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	41					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						AGAAGTGGCTGAGAGACAGGA	0.692																																						uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(121-123)CTC>CTG		asp (abnormal spindle)-like, microcephaly							66.0	74.0	71.0					1																	197115445		2203	4300	6503	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197115445G>C	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.123C>G	1.37:g.197115445G>C						ASPM_uc001gtv.2_Silent_p.L41L|ASPM_uc001gtw.3_5'UTR	p.L41L	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			1	380	-			41					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.123C>G	CCDS1389.1																																																																																				0.692	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		10	50	0	0	0	0	10	50				
OR2M3	127062	broad.mit.edu	37	1	248366902	248366902	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:248366902T>C	ENST00000456743.1	+	1	571	c.533T>C	c.(532-534)tTc>tCc	p.F178S		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCCACTTCTTCTGTGACTTC	0.423																																						uc010pzg.1		NA																	0				ovary(1)|skin(1)	2						c.(532-534)TTC>TCC		olfactory receptor, family 2, subfamily M,							226.0	220.0	222.0					1																	248366902		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366902T>C		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.533T>C	1.37:g.248366902T>C	ENSP00000389625:p.Phe178Ser						p.F178S	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	533	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		178			Extracellular (Potential).		B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.533T>C	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	t	14.45	2.539504	0.45176	.	.	ENSG00000228198	ENST00000456743	T	0.00258	8.41	2.55	1.2	0.21068	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00496	0.0016	M	0.85630	2.765	0.23956	N	0.996354	D	0.59357	0.985	D	0.64776	0.929	T	0.44329	-0.9335	9	0.87932	D	0	.	7.7572	0.28932	0.1866:0.0:0.0:0.8133	.	178	Q8NG83	OR2M3_HUMAN	S	178	ENSP00000389625:F178S	ENSP00000389625:F178S	F	+	2	0	OR2M3	246433525	0.012000	0.17670	0.435000	0.26784	0.010000	0.07245	-0.641000	0.05434	1.168000	0.42723	0.333000	0.21579	TTC		0.423	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		38	182	0	0	0	0	38	182				
OR2M7	391196	broad.mit.edu	37	1	248487479	248487479	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr1:248487479C>G	ENST00000317965.2	-	1	420	c.392G>C	c.(391-393)aGa>aCa	p.R131T		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	131						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(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTGGTGTATCTTAGAGGGTG	0.438																																						uc010pzk.1		NA																	0				skin(2)	2						c.(391-393)AGA>ACA		olfactory receptor, family 2, subfamily M,							224.0	227.0	226.0					1																	248487479		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487479C>G	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.392G>C	1.37:g.248487479C>G	ENSP00000324557:p.Arg131Thr						p.R131T	NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	392	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		131			Cytoplasmic (Potential).		B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.392G>C	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710894	0.30322	.	.	ENSG00000177186	ENST00000317965	T	0.00337	8.05	1.54	0.276	0.15663	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35124	U	0.003425	T	0.00440	0.0014	M	0.87038	2.855	0.09310	N	1	D	0.52996	0.957	P	0.52823	0.71	T	0.48843	-0.8999	10	0.87932	D	0	.	1.6583	0.02786	0.2857:0.284:0.0:0.4302	.	131	Q8NG81	OR2M7_HUMAN	T	131	ENSP00000324557:R131T	ENSP00000324557:R131T	R	-	2	0	OR2M7	246554102	0.000000	0.05858	0.077000	0.20336	0.098000	0.18820	-1.527000	0.02227	0.845000	0.35118	0.184000	0.17185	AGA		0.438	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		8	241	0	0	0	0	8	241				
FBXO18	84893	broad.mit.edu	37	10	5948405	5948405	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:5948405G>A	ENST00000362091.4	+	3	678	c.563G>A	c.(562-564)gGt>gAt	p.G188D	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000379999.5_Missense_Mutation_p.G239D	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	188					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GGGGACGTGGGTCCTGATCCC	0.587																																						uc001iis.2		NA																	0				ovary(2)|skin(1)	3						c.(562-564)GGT>GAT		F-box only protein, helicase, 18 isoform 2							79.0	62.0	68.0					10																	5948405		2203	4300	6503	SO:0001583	missense	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5948405G>A	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.563G>A	10.37:g.5948405G>A	ENSP00000355415:p.Gly188Asp					FBXO18_uc001iir.2_Missense_Mutation_p.G114D|FBXO18_uc009xig.2_Missense_Mutation_p.G114D|FBXO18_uc001iit.2_Missense_Mutation_p.G239D	p.G188D	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN			3	658	+			188					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.563G>A	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	G	2.782	-0.253331	0.05829	.	.	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.76	3.86	0.44501	.	0.493139	0.22335	N	0.061401	T	0.44159	0.1280	L	0.51422	1.61	0.58432	D	0.999997	B;B;B	0.18461	0.001;0.028;0.028	B;B;B	0.15052	0.002;0.012;0.012	T	0.24190	-1.0167	9	0.20046	T	0.44	-8.4955	4.0847	0.09942	0.2983:0.0:0.5445:0.1573	.	239;188;114	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	D	188;239	.	ENSP00000355415:G188D	G	+	2	0	FBXO18	5988411	0.918000	0.31147	0.031000	0.17742	0.005000	0.04900	2.286000	0.43496	0.730000	0.32425	0.655000	0.94253	GGT		0.587	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		5	19	0	0	0	0	5	19				
APBB1IP	54518	broad.mit.edu	37	10	26785285	26785285	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:26785285A>T	ENST00000376236.4	+	4	580	c.125A>T	c.(124-126)gAa>gTa	p.E42V	APBB1IP_ENST00000356785.4_Missense_Mutation_p.E42V	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	42					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CCCAGAGCTGAATTTAACTAC	0.343																																						uc001iss.2		NA																	0				lung(4)|skin(2)|central_nervous_system(1)	7						c.(124-126)GAA>GTA		amyloid beta (A4) precursor protein-binding,							94.0	97.0	96.0					10																	26785285		2203	4300	6503	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26785285A>T	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.125A>T	10.37:g.26785285A>T	ENSP00000365411:p.Glu42Val					APBB1IP_uc001isr.2_Missense_Mutation_p.E42V|APBB1IP_uc009xks.1_Missense_Mutation_p.E42V	p.E42V	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN			4	446	+			42					Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.125A>T	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.205823	0.79127	.	.	ENSG00000077420	ENST00000445780;ENST00000376236;ENST00000356785	T	0.36157	1.27	5.87	5.87	0.94306	.	0.086924	0.85682	D	0.000000	T	0.53769	0.1817	L	0.59436	1.845	0.53688	D	0.999974	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.76575	0.981;0.963;0.988	T	0.56360	-0.7992	10	0.72032	D	0.01	.	10.287	0.43573	0.9262:0.0:0.0738:0.0	.	42;42;42	B4E100;Q7Z5R6;Q8IYL7	.;AB1IP_HUMAN;.	V	42	ENSP00000365411:E42V	ENSP00000349237:E42V	E	+	2	0	APBB1IP	26825291	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	4.191000	0.58372	2.371000	0.80710	0.533000	0.62120	GAA		0.343	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		18	56	0	0	0	0	18	56				
PARD3	56288	broad.mit.edu	37	10	34408630	34408630	+	Silent	SNP	C	C	T	rs200437339		TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:34408630C>T	ENST00000374789.3	-	24	3913	c.3588G>A	c.(3586-3588)tcG>tcA	p.S1196S	PARD3_ENST00000545693.1_Silent_p.S1180S|PARD3_ENST00000346874.4_Silent_p.S1159S|PARD3_ENST00000374794.3_Silent_p.S1084S|PARD3_ENST00000545260.1_Silent_p.S1106S|PARD3_ENST00000350537.4_Silent_p.S1150S|PARD3_ENST00000374790.3_Silent_p.S1136S|PARD3_ENST00000374788.3_Silent_p.S1193S	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1196					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CCACGGACACCGAGTGTCGCC	0.617																																						uc010qej.1		NA																	0				ovary(1)	1						c.(3586-3588)TCG>TCA		partitioning-defective protein 3 homolog							25.0	23.0	24.0					10																	34408630		2202	4297	6499	SO:0001819	synonymous_variant	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34408630C>T	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3588G>A	10.37:g.34408630C>T						PARD3_uc010qek.1_Silent_p.S1193S|PARD3_uc010qel.1_Silent_p.S1159S|PARD3_uc010qem.1_Silent_p.S1180S|PARD3_uc010qen.1_Silent_p.S1150S|PARD3_uc010qeo.1_Silent_p.S1113S|PARD3_uc010qep.1_Silent_p.S1106S|PARD3_uc010qeq.1_Silent_p.S1084S	p.S1196S	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			24	3588	-		Breast(68;0.0707)	1196					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	ENST00000374789.3	37	c.3588G>A	CCDS7178.1																																																																																				0.617	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		5	11	0	0	0	0	5	11				
JMJD1C	221037	broad.mit.edu	37	10	64974590	64974590	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:64974590G>C	ENST00000399262.2	-	8	1555	c.1337C>G	c.(1336-1338)gCa>gGa	p.A446G	JMJD1C_ENST00000402544.1_Missense_Mutation_p.A227G|JMJD1C_ENST00000399251.1_Missense_Mutation_p.A227G|JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000542921.1_Missense_Mutation_p.A264G	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	446					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCGCTTCTCTGCTTCTTCATG	0.388																																						uc001jmn.2		NA																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(1336-1338)GCA>GGA		jumonji domain containing 1C isoform a							155.0	138.0	143.0					10																	64974590		1832	4082	5914	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64974590G>C	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.1337C>G	10.37:g.64974590G>C	ENSP00000382204:p.Ala446Gly					JMJD1C_uc001jml.2_Missense_Mutation_p.A227G|JMJD1C_uc001jmm.2_Missense_Mutation_p.A158G|JMJD1C_uc010qiq.1_Missense_Mutation_p.A264G|JMJD1C_uc009xpi.2_Missense_Mutation_p.A264G|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Missense_Mutation_p.A158G	p.A446G	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			8	1637	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		446					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.1337C>G	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	8.931	0.963532	0.18583	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.55052	0.88;0.54;2.47;0.89	5.85	-1.7	0.08159	.	1.906380	0.02865	N	0.130838	T	0.20941	0.0504	N	0.01352	-0.895	0.24721	N	0.993148	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.10636	-1.0621	10	0.16896	T	0.51	0.3686	3.6654	0.08254	0.1991:0.3844:0.3181:0.0984	.	446;264	Q15652;A0T124	JHD2C_HUMAN;.	G	446;227;227;264	ENSP00000382204:A446G;ENSP00000384990:A227G;ENSP00000382195:A227G;ENSP00000444682:A264G	ENSP00000382195:A227G	A	-	2	0	JMJD1C	64644596	0.998000	0.40836	0.866000	0.34008	0.993000	0.82548	1.258000	0.32944	-0.264000	0.09365	0.561000	0.74099	GCA		0.388	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		29	42	0	0	0	0	29	42				
CTNNA3	29119	broad.mit.edu	37	10	67726429	67726429	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:67726429T>A	ENST00000433211.2	-	17	2515	c.2341A>T	c.(2341-2343)Atc>Ttc	p.I781F	CTNNA3_ENST00000373744.4_Missense_Mutation_p.I781F|CTNNA3_ENST00000373735.1_5'UTR	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGACTGCAGATTTTCAGTTGG	0.428																																						uc009xpn.1		NA																	0				skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(2341-2343)ATC>TTC		catenin, alpha 3							113.0	107.0	109.0					10																	67726429		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67726429T>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2341A>T	10.37:g.67726429T>A	ENSP00000389714:p.Ile781Phe					CTNNA3_uc001jmw.2_Missense_Mutation_p.I781F	p.I781F	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			17	2464	-			781						Missense_Mutation	SNP	ENST00000433211.2	37	c.2341A>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.027813	0.93518	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.57107	0.42;0.42;0.42	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000013	T	0.73636	0.3612	M	0.83118	2.625	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.77789	-0.2456	10	0.66056	D	0.02	-16.2299	13.6859	0.62515	0.0:0.0:0.0:1.0	.	781	Q9UI47	CTNA3_HUMAN	F	781;781;120	ENSP00000389714:I781F;ENSP00000362849:I781F;ENSP00000362840:I120F	ENSP00000362840:I120F	I	-	1	0	CTNNA3	67396435	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.179000	0.69175	0.528000	0.53228	ATC		0.428	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		14	46	0	0	0	0	14	46				
GRID1	2894	broad.mit.edu	37	10	87614310	87614310	+	Silent	SNP	G	G	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:87614310G>C	ENST00000327946.7	-	8	1261	c.1176C>G	c.(1174-1176)gtC>gtG	p.V392V		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	392					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TTTCAAACTGGACATAGGGAT	0.498										Multiple Myeloma(13;0.14)																												uc001kdl.1		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(1174-1176)GTC>GTG		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						145.0	129.0	134.0					10																	87614310		2203	4300	6503	SO:0001819	synonymous_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87614310G>C	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1176C>G	10.37:g.87614310G>C		Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA	p.V392V	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			8	1277	-			392			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.1176C>G	CCDS31236.1																																																																																				0.498	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		10	34	0	0	0	0	10	34				
WAPAL	23063	broad.mit.edu	37	10	88259533	88259533	+	Silent	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:88259533C>T	ENST00000298767.5	-	3	1939	c.1467G>A	c.(1465-1467)caG>caA	p.Q489Q		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	489	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CTGGGGGAGGCTGCAAGGAGG	0.383																																						uc001kdo.2		NA																	0				ovary(1)	1						c.(1465-1467)CAG>CAA		wings apart-like homolog							162.0	150.0	154.0					10																	88259533		2203	4300	6503	SO:0001819	synonymous_variant	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88259533C>T	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.1467G>A	10.37:g.88259533C>T						WAPAL_uc001kdn.2_Silent_p.Q532Q|WAPAL_uc009xsw.2_Silent_p.Q489Q	p.Q489Q	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN			3	1909	-			489			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Silent	SNP	ENST00000298767.5	37	c.1467G>A	CCDS7375.1																																																																																				0.383	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		18	63	0	0	0	0	18	63				
HPS6	79803	broad.mit.edu	37	10	103826369	103826369	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:103826369G>A	ENST00000299238.5	+	1	1223	c.1138G>A	c.(1138-1140)Gcc>Acc	p.A380T		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	380					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TCTGCTTTCAGCCTTGGGTCT	0.582									Hermansky-Pudlak syndrome																													uc001kuj.2		NA																	0					0						c.(1138-1140)GCC>ACC		Hermansky-Pudlak syndrome-6							45.0	47.0	46.0					10																	103826369		2203	4300	6503	SO:0001583	missense	79803	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103826369G>A	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1138G>A	10.37:g.103826369G>A	ENSP00000299238:p.Ala380Thr						p.A380T	NM_024747	NP_079023	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	1223	+		Colorectal(252;0.122)	380					Q5VV69|Q9H685	Missense_Mutation	SNP	ENST00000299238.5	37	c.1138G>A	CCDS7527.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985622	0.53934	.	.	ENSG00000166189	ENST00000299238	T	0.77358	-1.09	4.78	4.78	0.61160	.	0.346100	0.29493	N	0.011998	T	0.69531	0.3121	L	0.57536	1.79	0.26891	N	0.967326	P	0.42518	0.782	B	0.37650	0.255	T	0.66594	-0.5884	10	0.40728	T	0.16	-10.8164	7.329	0.26571	0.0862:0.0:0.7444:0.1694	.	380	Q86YV9	HPS6_HUMAN	T	380	ENSP00000299238:A380T	ENSP00000299238:A380T	A	+	1	0	HPS6	103816359	0.155000	0.22806	1.000000	0.80357	0.993000	0.82548	1.087000	0.30865	2.474000	0.83562	0.561000	0.74099	GCC		0.582	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		5	39	0	0	0	0	5	39				
TAF5	6877	broad.mit.edu	37	10	105133180	105133180	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr10:105133180G>A	ENST00000369839.3	+	2	648	c.625G>A	c.(625-627)Gga>Aga	p.G209R	TAF5_ENST00000351396.4_Missense_Mutation_p.G209R	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	209					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CAACCAACAAGGAGATCCCAC	0.413																																						uc001kwv.2		NA																	0				ovary(2)	2						c.(625-627)GGA>AGA		TBP-associated factor 5							170.0	156.0	161.0					10																	105133180		2203	4300	6503	SO:0001583	missense	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105133180G>A	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.625G>A	10.37:g.105133180G>A	ENSP00000358854:p.Gly209Arg					TAF5_uc010qqq.1_Missense_Mutation_p.G209R	p.G209R	NM_006951	NP_008882	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	2	648	+		Colorectal(252;0.0747)|Breast(234;0.128)	209					A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	c.625G>A	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835014	0.91117	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.57752	0.63;0.38	5.27	5.27	0.74061	TFIID subunit, WD40-associated region (1);	0.000000	0.85682	D	0.000000	T	0.73210	0.3558	M	0.77820	2.39	0.80722	D	1	D;D	0.71674	0.995;0.998	P;D	0.68765	0.903;0.96	T	0.73978	-0.3812	10	0.44086	T	0.13	-10.5095	18.8936	0.92414	0.0:0.0:1.0:0.0	.	209;209	Q15542-2;Q15542	.;TAF5_HUMAN	R	209	ENSP00000358854:G209R;ENSP00000311024:G209R	ENSP00000311024:G209R	G	+	1	0	TAF5	105123170	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.476000	0.97823	2.471000	0.83476	0.555000	0.69702	GGA		0.413	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			8	87	0	0	0	0	8	87				
APBB1	322	broad.mit.edu	37	11	6425033	6425033	+	Silent	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr11:6425033G>A	ENST00000609360.1	-	3	840	c.741C>T	c.(739-741)aaC>aaT	p.N247N	APBB1_ENST00000608394.1_De_novo_Start_OutOfFrame|APBB1_ENST00000389906.2_Silent_p.N247N|APBB1_ENST00000608655.1_Silent_p.N27N|APBB1_ENST00000608704.1_De_novo_Start_OutOfFrame|APBB1_ENST00000529519.1_Intron|APBB1_ENST00000609331.1_Silent_p.N12N|APBB1_ENST00000299402.6_Silent_p.N247N|APBB1_ENST00000530885.1_Silent_p.N27N|APBB1_ENST00000608645.1_De_novo_Start_OutOfFrame|APBB1_ENST00000311051.3_Silent_p.N247N	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	247					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TCTCGAAGGCGTTGGGGTTCC	0.617																																					GBM(147;1810 2556 5672 39622)	uc001mdb.1		NA																	0				breast(2)	2						c.(739-741)AAC>AAT		amyloid beta A4 precursor protein-binding,							73.0	66.0	68.0					11																	6425033		2201	4296	6497	SO:0001819	synonymous_variant	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6425033G>A	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.741C>T	11.37:g.6425033G>A						APBB1_uc001mcz.1_5'Flank|APBB1_uc001mdd.3_Silent_p.N27N|APBB1_uc001mda.2_Intron|APBB1_uc001mdc.1_Silent_p.N247N|APBB1_uc010rab.1_5'Flank|APBB1_uc010rac.1_5'Flank|APBB1_uc010rad.1_5'Flank|APBB1_uc010rae.1_Silent_p.N12N|APBB1_uc010raf.1_Translation_Start_Site|APBB1_uc009yfa.2_Translation_Start_Site|APBB1_uc009yey.2_Translation_Start_Site|APBB1_uc010rag.1_Translation_Start_Site|APBB1_uc009yfb.2_Translation_Start_Site|APBB1_uc001mde.2_Translation_Start_Site|APBB1_uc010rah.1_Translation_Start_Site	p.N247N	NM_001164	NP_001155	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	3	841	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	247					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Silent	SNP	ENST00000609360.1	37	c.741C>T																																																																																					0.617	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		17	14	0	0	0	0	17	14				
DCHS1	8642	broad.mit.edu	37	11	6646039	6646039	+	Missense_Mutation	SNP	G	G	A	rs141901540	byFrequency	TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr11:6646039G>A	ENST00000299441.3	-	20	7618	c.7207C>T	c.(7207-7209)Cgg>Tgg	p.R2403W	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2403	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGAGTCCCGATCAGTGGCA	0.557																																						uc001mem.1		NA																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(7207-7209)CGG>TGG		dachsous 1 precursor		G	TRP/ARG	0,4402		0,0,2201	127.0	89.0	102.0		7207	3.5	1.0	11	dbSNP_134	102	3,8589	3.0+/-9.4	0,3,4293	yes	missense	DCHS1	NM_003737.2	101	0,3,6494	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	2403/3299	6646039	3,12991	2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6646039G>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7207C>T	11.37:g.6646039G>A	ENSP00000299441:p.Arg2403Trp						p.R2403W	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	20	7617	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	2403			Cadherin 23.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.7207C>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302100	0.60195	0.0	3.49E-4	ENSG00000166341	ENST00000299441	T	0.61627	0.09	5.41	3.48	0.39840	Cadherin (4);Cadherin-like (1);	0.395490	0.18557	N	0.137731	T	0.72566	0.3476	M	0.82923	2.615	0.51767	D	0.999935	D	0.65815	0.995	P	0.57283	0.817	T	0.75684	-0.3232	10	0.59425	D	0.04	.	13.2059	0.59795	0.0:0.0:0.7007:0.2993	.	2403	Q96JQ0	PCD16_HUMAN	W	2403	ENSP00000299441:R2403W	ENSP00000299441:R2403W	R	-	1	2	DCHS1	6602615	0.843000	0.29541	1.000000	0.80357	0.862000	0.49288	1.070000	0.30653	0.791000	0.33826	-0.314000	0.08810	CGG		0.557	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		6	9	0	0	0	0	6	9				
GALNT8	26290	broad.mit.edu	37	12	4855415	4855415	+	Silent	SNP	T	T	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr12:4855415T>C	ENST00000252318.2	+	6	1501	c.1164T>C	c.(1162-1164)ctT>ctC	p.L388L		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	388	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ACGTGGAGCTTAGCCTGAGGG	0.498																																					Colon(108;631 1558 7270 20097 39846)	uc001qne.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1162-1164)CTT>CTC		polypeptide N-acetylgalactosaminyltransferase 8							163.0	150.0	154.0					12																	4855415		2203	4300	6503	SO:0001819	synonymous_variant	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4855415T>C	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1164T>C	12.37:g.4855415T>C							p.L388L	NM_017417	NP_059113	Q9NY28	GALT8_HUMAN			6	1256	+			388			Lumenal (Potential).|Catalytic subdomain B.		B2RU02	Silent	SNP	ENST00000252318.2	37	c.1164T>C	CCDS8533.1																																																																																				0.498	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		4	45	0	0	0	0	4	45				
CD163L1	283316	broad.mit.edu	37	12	7559320	7559320	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr12:7559320C>T	ENST00000313599.3	-	5	952	c.895G>A	c.(895-897)Gta>Ata	p.V299I	CD163L1_ENST00000416109.2_Missense_Mutation_p.V309I|CD163L1_ENST00000396630.1_Missense_Mutation_p.V299I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	299	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCTTGCATACGACATCAGCT	0.522																																						uc001qsy.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(895-897)GTA>ATA		scavenger receptor cysteine-rich type 1							319.0	245.0	270.0					12																	7559320		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7559320C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.895G>A	12.37:g.7559320C>T	ENSP00000315945:p.Val299Ile					CD163L1_uc010sge.1_Missense_Mutation_p.V309I	p.V299I	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			5	921	-			299			SRCR 3.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.895G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446472	0.43429	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.39229	1.09;1.09;1.09	1.75	-1.23	0.09465	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.28001	0.0690	L	0.45581	1.43	0.09310	N	0.99999	P;P	0.40578	0.722;0.722	B;B	0.34038	0.174;0.174	T	0.10497	-1.0627	9	0.39692	T	0.17	.	5.8213	0.18528	0.0:0.5279:0.0:0.4721	.	309;299	E7EVK4;Q9NR16	.;C163B_HUMAN	I	299;309;299	ENSP00000315945:V299I;ENSP00000393474:V309I;ENSP00000379871:V299I	ENSP00000315945:V299I	V	-	1	0	CD163L1	7450587	0.001000	0.12720	0.000000	0.03702	0.356000	0.29392	0.350000	0.20079	-0.408000	0.07565	0.305000	0.20034	GTA		0.522	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		22	55	0	0	0	0	22	55				
BRAP	8315	broad.mit.edu	37	12	112082288	112082288	+	Silent	SNP	T	T	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr12:112082288T>C	ENST00000327551.6	-	12	1544	c.1404A>G	c.(1402-1404)cgA>cgG	p.R468R	BRAP_ENST00000539060.1_Silent_p.R319R|BRAP_ENST00000419234.4_Silent_p.R498R			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						CTTGGTTGGCTCGCAAACACT	0.483																																					Pancreas(146;846 1904 7830 25130 26065)	uc001tsn.3		NA																	0				lung(1)	1						c.(1492-1494)CGA>CGG		BRCA1 associated protein							165.0	144.0	151.0					12																	112082288		2203	4300	6503	SO:0001819	synonymous_variant	8315				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:112082288T>C	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.1404A>G	12.37:g.112082288T>C						BRAP_uc010syh.1_Silent_p.R319R|BRAP_uc009zvv.2_Silent_p.R468R	p.R498R	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN			12	1688	-			498			Potential.		B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Silent	SNP	ENST00000327551.6	37	c.1494A>G																																																																																					0.483	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2			20	78	0	0	0	0	20	78				
RPLP0	6175	broad.mit.edu	37	12	120636708	120636708	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr12:120636708G>C	ENST00000551150.1	-	4	729	c.414C>G	c.(412-414)ttC>ttG	p.F138L	RPLP0_ENST00000228306.4_Missense_Mutation_p.F138L|RPLP0_ENST00000392514.4_Missense_Mutation_p.F138L|RPLP0_ENST00000546989.1_Missense_Mutation_p.F138L|PXN-AS1_ENST00000542314.1_RNA|PXN-AS1_ENST00000538804.1_RNA|PXN-AS1_ENST00000535200.1_RNA|RPLP0_ENST00000550296.1_5'UTR|PXN-AS1_ENST00000542265.1_RNA|PXN-AS1_ENST00000539446.1_RNA|RPLP0_ENST00000552292.1_5'Flank|RPLP0_ENST00000313104.5_Missense_Mutation_p.F138L			P05388	RLA0_HUMAN	ribosomal protein, large, P0	138					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTAAAGCCTGGAAAAAGGAGG	0.567																																						uc001txp.2		NA																	0				ovary(1)	1						c.(412-414)TTC>TTG		ribosomal protein P0							41.0	40.0	40.0					12																	120636708		2203	4296	6499	SO:0001583	missense	6175				endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	g.chr12:120636708G>C	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.414C>G	12.37:g.120636708G>C	ENSP00000449328:p.Phe138Leu					RPLP0_uc001txq.2_Missense_Mutation_p.F138L|RPLP0_uc001txr.2_Missense_Mutation_p.F138L|uc001txs.1_5'Flank	p.F138L	NM_053275	NP_444505	P05388	RLA0_HUMAN			5	651	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		138					Q3B7A4|Q9BVK4	Missense_Mutation	SNP	ENST00000551150.1	37	c.414C>G	CCDS9193.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173576	0.78452	.	.	ENSG00000089157	ENST00000392514;ENST00000551150;ENST00000313104;ENST00000546989;ENST00000228306;ENST00000547211;ENST00000550856;ENST00000547191	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	U	0.000000	T	0.66723	0.2818	L	0.50919	1.6	0.80722	D	1	B;B	0.21147	0.034;0.052	B;B	0.29353	0.034;0.101	T	0.64495	-0.6394	9	0.56958	D	0.05	.	19.057	0.93069	0.0:0.0:1.0:0.0	.	138;138	Q3B7A4;P05388	.;RLA0_HUMAN	L	138;138;138;138;138;118;138;124	.	ENSP00000339027:F138L	F	-	3	2	RPLP0	119121091	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.566000	0.73978	2.508000	0.84585	0.655000	0.94253	TTC		0.567	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3	NM_053275		6	18	0	0	0	0	6	18				
SBNO1	55206	broad.mit.edu	37	12	123812541	123812541	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr12:123812541A>C	ENST00000602398.1	-	11	1457	c.1330T>G	c.(1330-1332)Tta>Gta	p.L444V	SBNO1_ENST00000420886.2_Missense_Mutation_p.L444V|SBNO1_ENST00000267176.4_Missense_Mutation_p.L443V|SBNO1_ENST00000602750.1_Missense_Mutation_p.L443V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	444					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ACAGGACATAAGTTTTTGGCT	0.368																																						uc010tap.1		NA																	0				breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(1330-1332)TTA>GTA		sno, strawberry notch homolog 1							142.0	130.0	134.0					12																	123812541		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123812541A>C	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.1330T>G	12.37:g.123812541A>C	ENSP00000473665:p.Leu444Val					SBNO1_uc010tao.1_Missense_Mutation_p.L443V|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.L444V|SBNO1_uc001ueu.2_Missense_Mutation_p.L443V|SBNO1_uc001uev.2_Missense_Mutation_p.L442V|SBNO1_uc009zxy.1_Missense_Mutation_p.L409V	p.L444V	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	10	1330	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		444					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.1330T>G	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.002280	0.35320	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	D;D	0.93366	-3.21;-3.21	5.91	2.32	0.28847	.	0.076059	0.52532	D	0.000063	D	0.90363	0.6984	M	0.68728	2.09	0.47245	D	0.99936	B;B;B	0.17038	0.02;0.007;0.0	B;B;B	0.26693	0.072;0.029;0.002	T	0.82673	-0.0341	10	0.41790	T	0.15	-14.973	5.563	0.17154	0.5718:0.0:0.3091:0.1191	.	444;443;442	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	V	444;443;443	ENSP00000387361:L444V;ENSP00000267176:L443V	ENSP00000267176:L443V	L	-	1	2	SBNO1	122378494	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.326000	0.33735	0.160000	0.19432	0.454000	0.30748	TTA		0.368	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		14	70	0	0	0	0	14	70				
MTUS2	23281	broad.mit.edu	37	13	29599504	29599504	+	Silent	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr13:29599504C>T	ENST00000431530.3	+	1	757	c.699C>T	c.(697-699)caC>caT	p.H233H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	223						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGCCAGACCACGCTGTCCCGG	0.587																																						uc001usl.3		NA																	0					0						c.(697-699)CAC>CAT		hypothetical protein LOC23281 isoform a							40.0	41.0	41.0					13																	29599504		2200	4300	6500	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599504C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.699C>T	13.37:g.29599504C>T							p.H233H	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	757	+			223					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.699C>T	CCDS45022.1																																																																																				0.587	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		6	9	0	0	0	0	6	9				
MYO16	23026	broad.mit.edu	37	13	109318469	109318469	+	Silent	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr13:109318469C>T	ENST00000357550.2	+	1	239	c.198C>T	c.(196-198)gaC>gaT	p.D66D	MYO16_ENST00000251041.5_Silent_p.D66D|MYO16_ENST00000356711.2_Silent_p.D66D	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGCTACAGGACGCGATTATCC	0.428																																						uc001vqt.1		NA																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(196-198)GAC>GAT		myosin heavy chain Myr 8							56.0	49.0	51.0					13																	109318469		2203	4300	6503	SO:0001819	synonymous_variant	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109318469C>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.198C>T	13.37:g.109318469C>T						MYO16_uc010agk.1_Silent_p.D88D	p.D66D	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		2	324	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		66			ANK 1.			Silent	SNP	ENST00000357550.2	37	c.198C>T	CCDS32008.1																																																																																				0.428	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		4	16	0	0	0	0	4	16				
MMP14	4323	broad.mit.edu	37	14	23313687	23313687	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr14:23313687G>C	ENST00000311852.6	+	7	1380	c.1119G>C	c.(1117-1119)gaG>gaC	p.E373D	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	373					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	CTGCCTACGAGAGGAAGGATG	0.537																																						uc001whc.2		NA																	0					0						c.(1117-1119)GAG>GAC		matrix metalloproteinase 14 preproprotein							178.0	173.0	175.0					14																	23313687		2203	4300	6503	SO:0001583	missense	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23313687G>C		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.1119G>C	14.37:g.23313687G>C	ENSP00000308208:p.Glu373Asp						p.E373D	NM_004995	NP_004986	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	7	1353	+	all_cancers(95;9.47e-05)		373			Hemopexin-like 2.|Extracellular (Potential).		A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	c.1119G>C	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911033	0.72983	.	.	ENSG00000157227	ENST00000311852	T	0.02944	4.1	5.91	3.87	0.44632	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.19927	0.0479	H	0.97491	4.015	0.53688	D	0.999974	D	0.71674	0.998	D	0.70935	0.971	T	0.00724	-1.1593	10	0.87932	D	0	.	4.8944	0.13742	0.3807:0.0:0.6193:0.0	.	373	P50281	MMP14_HUMAN	D	373	ENSP00000308208:E373D	ENSP00000308208:E373D	E	+	3	2	MMP14	22383527	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.820000	0.27323	1.508000	0.48769	0.650000	0.86243	GAG		0.537	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		15	170	0	0	0	0	15	170				
HECTD1	25831	broad.mit.edu	37	14	31619322	31619322	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr14:31619322C>T	ENST00000399332.1	-	13	2526	c.2038G>A	c.(2038-2040)Gat>Aat	p.D680N	HECTD1_ENST00000553700.1_Missense_Mutation_p.D680N	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	680					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GCTGCTGCATCACTCCAAATA	0.418																																						uc001wrc.1		NA																	0				ovary(3)|large_intestine(1)|lung(1)	5						c.(2038-2040)GAT>AAT		HECT domain containing 1							231.0	213.0	219.0					14																	31619322		1911	4123	6034	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31619322C>T	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2038G>A	14.37:g.31619322C>T	ENSP00000382269:p.Asp680Asn					HECTD1_uc001wrd.1_Missense_Mutation_p.D195N	p.D680N	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	13	2527	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		680					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.2038G>A	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	36	5.646578	0.96704	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957;ENST00000556224	T;T;T;T	0.79554	0.37;0.37;0.9;-1.28	5.88	5.88	0.94601	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89171	0.6639	M	0.68317	2.08	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.68192	0.94;0.956	D	0.89223	0.3572	10	0.87932	D	0	-19.2759	20.2296	0.98347	0.0:1.0:0.0:0.0	.	680;680	D3DS86;Q9ULT8	.;HECD1_HUMAN	N	680;680;680;154;680	ENSP00000450697:D680N;ENSP00000382269:D680N;ENSP00000451860:D154N;ENSP00000452015:D680N	ENSP00000261312:D680N	D	-	1	0	HECTD1	30689073	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.800000	0.85949	2.782000	0.95742	0.563000	0.77884	GAT		0.418	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			19	147	0	0	0	0	19	147				
BAZ1A	11177	broad.mit.edu	37	14	35343736	35343736	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr14:35343736G>C	ENST00000382422.2	-	1	402	c.75C>G	c.(73-75)ttC>ttG	p.F25L	RP11-73E17.2_ENST00000557373.1_RNA|BAZ1A_ENST00000360310.1_Missense_Mutation_p.F25L|BAZ1A_ENST00000358716.4_Missense_Mutation_p.F25L			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	25	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC. {ECO:0000255|PROSITE- ProRule:PRU00475}.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CTTTACAGTAGAAAACTTCCT	0.667																																						uc001wsk.2		NA																	0				lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(73-75)TTC>TTG		bromodomain adjacent to zinc finger domain, 1A							43.0	55.0	51.0					14																	35343736		2203	4299	6502	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35343736G>C	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.75C>G	14.37:g.35343736G>C	ENSP00000371859:p.Phe25Leu					BAZ1A_uc001wsl.2_Missense_Mutation_p.F25L|BAZ1A_uc001wsm.1_Missense_Mutation_p.F25L	p.F25L	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	2	643	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		25			WAC.|Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.		Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.75C>G	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177963	0.57692	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310	D;D;D	0.81739	-1.53;-1.53;-1.53	3.02	3.02	0.34903	WSTF/Acf1/Cbp146 (2);	0.000000	0.85682	U	0.000000	T	0.80513	0.4637	M	0.81682	2.555	0.58432	D	0.999999	B;B	0.12630	0.005;0.006	B;B	0.10450	0.003;0.005	T	0.81022	-0.1121	10	0.72032	D	0.01	.	13.0739	0.59077	0.0:0.0:1.0:0.0	.	25;25	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	L	25	ENSP00000351555:F25L;ENSP00000371859:F25L;ENSP00000353458:F25L	ENSP00000351555:F25L	F	-	3	2	BAZ1A	34413487	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.198000	0.58419	1.376000	0.46267	0.455000	0.32223	TTC		0.667	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			4	58	0	0	0	0	4	58				
MDGA2	161357	broad.mit.edu	37	14	47530684	47530684	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr14:47530684T>A	ENST00000399232.2	-	7	1450	c.1086A>T	c.(1084-1086)gaA>gaT	p.E362D	MDGA2_ENST00000426342.1_Missense_Mutation_p.E133D|MDGA2_ENST00000439988.3_Missense_Mutation_p.E431D|MDGA2_ENST00000357362.3_Missense_Mutation_p.E133D	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	362	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AAGGAACAGCTTCTACTTGGC	0.403																																						uc001wwj.3		NA																	0				ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1084-1086)GAA>GAT		MAM domain containing 1 isoform 1							102.0	92.0	95.0					14																	47530684		1882	4097	5979	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47530684T>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1086A>T	14.37:g.47530684T>A	ENSP00000382178:p.Glu362Asp					MDGA2_uc001wwi.3_Missense_Mutation_p.E133D|MDGA2_uc010ani.2_Translation_Start_Site	p.E362D	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			7	1282	-			362			Ig-like 4.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1086A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.21|10.21	1.288000|1.288000	0.23478|0.23478	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362|ENST00000554762	T;T;T;T|.	0.68765|.	-0.35;-0.35;-0.35;-0.35|.	5.96|5.96	4.79|4.79	0.61399|0.61399	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.52532|.	U|.	0.000065|.	T|T	0.41766|0.41766	0.1173|0.1173	N|N	0.16708|0.16708	0.43|0.43	0.80722|0.80722	D|D	1|1	B|.	0.19200|.	0.034|.	B|.	0.28011|.	0.085|.	T|T	0.21381|0.21381	-1.0247|-1.0247	10|5	0.02654|.	T|.	1|.	.|.	12.2418|12.2418	0.54546|0.54546	0.0:0.0:0.1422:0.8578|0.0:0.0:0.1422:0.8578	.|.	362|.	Q7Z553|.	MDGA2_HUMAN|.	D|C	362;133;431;133|137	ENSP00000400011:E362D;ENSP00000405456:E133D;ENSP00000382178:E431D;ENSP00000349925:E133D|.	ENSP00000349925:E133D|.	E|S	-|-	3|1	2|0	MDGA2|MDGA2	46600434|46600434	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.405000|1.405000	0.34635|0.34635	1.039000|1.039000	0.40074|0.40074	0.533000|0.533000	0.62120|0.62120	GAA|AGC		0.403	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		40	64	0	0	0	0	40	64				
DUOX1	53905	broad.mit.edu	37	15	45437213	45437213	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr15:45437213G>T	ENST00000321429.4	+	19	2664	c.2257G>T	c.(2257-2259)Gca>Tca	p.A753S	DUOX1_ENST00000561166.1_Missense_Mutation_p.A399S|DUOX1_ENST00000389037.3_Missense_Mutation_p.A753S	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	753					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCTGATGAGAGCAGCTGTGAC	0.592																																						uc001zus.1		NA																	0				ovary(5)|skin(2)|breast(1)	8						c.(2257-2259)GCA>TCA		dual oxidase 1 precursor							101.0	99.0	100.0					15																	45437213		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45437213G>T	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2257G>T	15.37:g.45437213G>T	ENSP00000317997:p.Ala753Ser					DUOX1_uc001zut.1_Missense_Mutation_p.A753S|DUOX1_uc010bee.1_Missense_Mutation_p.A133S|DUOX1_uc001zuu.2_5'Flank	p.A753S	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	19	2603	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	753			Cytoplasmic (Potential).		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.2257G>T	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752992	0.31046	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.85411	-1.98;-1.98	4.56	3.65	0.41850	.	0.693609	0.15502	N	0.258973	T	0.78679	0.4321	L	0.43152	1.355	0.26963	N	0.965765	B	0.09022	0.002	B	0.06405	0.002	T	0.65878	-0.6061	10	0.29301	T	0.29	0.1544	10.6075	0.45402	0.0954:0.0:0.9046:0.0	.	753	Q9NRD9	DUOX1_HUMAN	S	753	ENSP00000317997:A753S;ENSP00000373689:A753S	ENSP00000317997:A753S	A	+	1	0	DUOX1	43224505	0.941000	0.31946	0.660000	0.29694	0.477000	0.33069	1.408000	0.34668	1.278000	0.44430	0.555000	0.69702	GCA		0.592	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		7	61	1	0	5.18e-06	1.05e-05	7	61				
BLM	641	broad.mit.edu	37	15	91312807	91312807	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr15:91312807G>C	ENST00000355112.3	+	12	2664	c.2546G>C	c.(2545-2547)aGa>aCa	p.R849T	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.R849T	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	849	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AAGATTCTCAGACCTCAGGTG	0.517			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													uc002bpr.2		NA	yes	Rec		Bloom Syndrome	15	15q26.1	641	Mis|N|F	Bloom Syndrome			"""L, E"""		leukemia|lymphoma|skin squamous cell |other cancers			0				ovary(3)|skin(2)|breast(1)	6						c.(2545-2547)AGA>ACA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom syndrome protein							67.0	54.0	58.0					15																	91312807		2198	4298	6496	SO:0001583	missense	641	Bloom_syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91312807G>C	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.2546G>C	15.37:g.91312807G>C	ENSP00000347232:p.Arg849Thr					BLM_uc010uqh.1_Missense_Mutation_p.R849T|BLM_uc010uqi.1_Missense_Mutation_p.R474T|BLM_uc010bnx.2_Missense_Mutation_p.R849T|BLM_uc002bps.1_Missense_Mutation_p.R411T	p.R849T	NM_000057	NP_000048	P54132	BLM_HUMAN	Lung(145;0.189)		12	2643	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		849			Helicase ATP-binding.		Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.2546G>C	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522844	0.27211	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	T	0.47528	0.84	5.1	-1.87	0.07737	DEAD-like helicase (2);	0.620603	0.17077	N	0.187925	T	0.29126	0.0724	L	0.35414	1.06	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.005	B;B;B	0.18561	0.022;0.007;0.022	T	0.12656	-1.0539	10	0.30854	T	0.27	-13.1169	5.6981	0.17867	0.5584:0.175:0.2666:0.0	.	849;474;849	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	T	849;502;36	ENSP00000347232:R849T	ENSP00000347232:R849T	R	+	2	0	BLM	89113811	0.001000	0.12720	0.001000	0.08648	0.787000	0.44495	0.655000	0.24933	-0.442000	0.07190	0.591000	0.81541	AGA		0.517	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			4	27	0	0	0	0	4	27				
MSLN	10232	broad.mit.edu	37	16	816458	816458	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr16:816458G>C	ENST00000382862.3	+	12	1293	c.1198G>C	c.(1198-1200)Gaa>Caa	p.E400Q	MSLN_ENST00000563941.1_Missense_Mutation_p.E400Q|MSLN_ENST00000545450.2_Missense_Mutation_p.E400Q|MSLN_ENST00000566549.1_Missense_Mutation_p.E400Q	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	400					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGCTTTGCTTGAAGTCAACAA	0.572																																						uc002cjw.1		NA																	0				pancreas(1)	1						c.(1198-1200)GAA>CAA		mesothelin isoform 2 preproprotein							88.0	81.0	83.0					16																	816458		2191	4288	6479	SO:0001583	missense	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:816458G>C	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1198G>C	16.37:g.816458G>C	ENSP00000372313:p.Glu400Gln					MSLN_uc002cjt.1_Missense_Mutation_p.E400Q|MSLN_uc002cju.1_Missense_Mutation_p.E400Q|MSLN_uc010brd.1_Missense_Mutation_p.E399Q|MSLN_uc002cjv.1_Missense_Mutation_p.E400Q|MSLN_uc002cjx.1_Missense_Mutation_p.E400Q|MSLN_uc002cjy.1_Missense_Mutation_p.E65Q	p.E400Q	NM_013404	NP_037536	Q13421	MSLN_HUMAN			12	1249	+		Hepatocellular(780;0.00335)	400					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	c.1198G>C	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	G	0.152	-1.090114	0.01873	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.12569	2.67;2.67	4.18	-8.36	0.00980	.	0.948310	0.08784	N	0.894230	T	0.04272	0.0118	N	0.08118	0	0.09310	N	1	B;B;B;B	0.21225	0.017;0.036;0.053;0.017	B;B;B;B	0.22152	0.022;0.038;0.022;0.022	T	0.39901	-0.9591	10	0.05436	T	0.98	0.009	8.3177	0.32111	0.216:0.3548:0.4292:0.0	.	399;400;400;400	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	Q	400	ENSP00000442965:E400Q;ENSP00000372313:E400Q	ENSP00000372313:E400Q	E	+	1	0	MSLN	756459	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.441000	0.02409	-1.841000	0.01183	-1.892000	0.00534	GAA		0.572	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			10	62	0	0	0	0	10	62				
SETD6	79918	broad.mit.edu	37	16	58550236	58550236	+	Silent	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr16:58550236C>T	ENST00000219315.4	+	3	515	c.465C>T	c.(463-465)caC>caT	p.H155H	SETD6_ENST00000310682.2_Silent_p.H131H|SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000394266.4_Silent_p.H131H			Q8TBK2	SETD6_HUMAN	SET domain containing 6	155	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						GCTTGGAGCACCCGATGTTCT	0.672																																						uc002ens.2		NA																	0				ovary(1)	1						c.(463-465)CAC>CAT		SET domain containing 6 isoform a							18.0	24.0	22.0					16																	58550236		2159	4229	6388	SO:0001819	synonymous_variant	79918				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity	g.chr16:58550236C>T	AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.465C>T	16.37:g.58550236C>T						SETD6_uc010cdl.2_Silent_p.H155H|SETD6_uc002enr.2_Silent_p.H131H|SETD6_uc010cdm.2_RNA|SETD6_uc010vij.1_Silent_p.H79H	p.H155H	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN			3	524	+			155			SET.		A8K380|B5ME38|Q9H787	Silent	SNP	ENST00000219315.4	37	c.465C>T	CCDS54013.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	8.167|8.167	0.790793|0.790793	0.16258|0.16258	.|.	.|.	ENSG00000103037|ENSG00000103037	ENST00000458571|ENST00000447443	.|T	.|0.48836	.|0.8	5.33|5.33	2.0|2.0	0.26442|0.26442	.|.	.|.	.|.	.|.	.|.	T|T	0.50446|0.50446	0.1616|0.1616	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.46190|0.46190	-0.9209|-0.9209	5|6	0.87932|0.72032	D|D	0|0.01	-21.224|-21.224	5.0504|5.0504	0.14505|0.14505	0.0:0.5928:0.1586:0.2486|0.0:0.5928:0.1586:0.2486	.|.	.|.	.|.	.|.	S|I	107|83	.|ENSP00000396437:T83I	ENSP00000411123:P107S|ENSP00000396437:T83I	P|T	+|+	1|2	0|0	SETD6|SETD6	57107737|57107737	0.988000|0.988000	0.35896|0.35896	0.975000|0.975000	0.42487|0.42487	0.405000|0.405000	0.30901|0.30901	0.304000|0.304000	0.19228|0.19228	0.121000|0.121000	0.18284|0.18284	0.486000|0.486000	0.48141|0.48141	CCC|ACC		0.672	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860		5	34	0	0	0	0	5	34				
CMTR2	55783	broad.mit.edu	37	16	71318560	71318560	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr16:71318560T>A	ENST00000338099.5	-	3	1600	c.1264A>T	c.(1264-1266)Aaa>Taa	p.K422*	CMTR2_ENST00000434935.2_Nonsense_Mutation_p.K422*			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	422					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										ATACTAGATTTTTTTACTAGC	0.299																																						uc010cga.2		NA																	0				skin(1)	1						c.(1264-1266)AAA>TAA		FtsJ methyltransferase domain containing 1							31.0	33.0	32.0					16																	71318560		2194	4289	6483	SO:0001587	stop_gained	55783					integral to membrane	methyltransferase activity|nucleic acid binding	g.chr16:71318560T>A	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.1264A>T	16.37:g.71318560T>A	ENSP00000337512:p.Lys422*					FTSJD1_uc002ezy.3_Nonsense_Mutation_p.K422*|FTSJD1_uc002ezz.3_Nonsense_Mutation_p.K422*	p.K422*	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN			3	1670	-			422					B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Nonsense_Mutation	SNP	ENST00000338099.5	37	c.1264A>T	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	T	38	6.971416	0.97971	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	.	.	.	5.95	5.95	0.96441	.	0.254272	0.39687	N	0.001281	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7956	15.5864	0.76485	0.0:0.0:0.0:1.0	.	.	.	.	X	422	.	ENSP00000337512:K422X	K	-	1	0	FTSJD1	69876061	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	2.594000	0.46189	2.279000	0.76181	0.402000	0.26972	AAA		0.299	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		7	62	0	0	0	0	7	62				
DHODH	1723	broad.mit.edu	37	16	72046004	72046004	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr16:72046004C>A	ENST00000219240.4	+	2	98	c.77C>A	c.(76-78)tCc>tAc	p.S26Y	DHODH_ENST00000572887.1_Missense_Mutation_p.S26Y	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	26					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	CTCTTCGCCTCCTACCTGATG	0.602																																						uc002fbp.2		NA																	0					0						c.(76-78)TCC>TAC		dihydroorotate dehydrogenase precursor	Atovaquone(DB01117)|Leflunomide(DB01097)						91.0	97.0	95.0					16																	72046004		2143	4253	6396	SO:0001583	missense	1723				'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity	g.chr16:72046004C>A		CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"""dihydroorotate dehydrogenase"""			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.77C>A	16.37:g.72046004C>A	ENSP00000219240:p.Ser26Tyr					DHODH_uc010cgk.2_RNA	p.S26Y	NM_001361	NP_001352	Q02127	PYRD_HUMAN			2	98	+		Ovarian(137;0.125)	26			Helical; (By similarity).		A8K8C8|Q6P176	Missense_Mutation	SNP	ENST00000219240.4	37	c.77C>A	CCDS42192.1	.	.	.	.	.	.	.	.	.	.	C	9.219	1.032773	0.19590	.	.	ENSG00000102967	ENST00000219240	D	0.85088	-1.94	4.42	4.42	0.53409	.	0.188172	0.47852	D	0.000201	D	0.83124	0.5186	L	0.55481	1.735	0.45161	D	0.998171	B	0.16396	0.017	B	0.22601	0.04	T	0.81645	-0.0839	10	0.59425	D	0.04	-10.4849	16.1845	0.81939	0.0:1.0:0.0:0.0	.	26	Q02127	PYRD_HUMAN	Y	26	ENSP00000219240:S26Y	ENSP00000219240:S26Y	S	+	2	0	DHODH	70603505	0.895000	0.30542	0.927000	0.36925	0.493000	0.33554	2.896000	0.48656	2.292000	0.77174	0.563000	0.77884	TCC		0.602	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001361		16	105	1	0	1.36e-06	2.77e-06	16	105				
APRT	353	broad.mit.edu	37	16	88873832	88873832	+	IGR	SNP	C	C	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr16:88873832C>G	ENST00000378364.3	-	0	947				CDT1_ENST00000301019.4_Silent_p.L473L	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase						adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	AGCCTGCGCTCAGCATGGAGG	0.657																																						uc002flu.2		NA																	0				central_nervous_system(1)	1						c.(1417-1419)CTC>CTG		chromatin licensing and DNA replication factor							61.0	49.0	53.0					16																	88873832		2198	4299	6497	SO:0001628	intergenic_variant	81620				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding	g.chr16:88873832C>G		CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741			16.37:g.88873832C>G							p.L473L	NM_030928	NP_112190	Q9H211	CDT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0476)	9	1473	+			473					G5E9J2|Q3KP55|Q68DF9	Silent	SNP	ENST00000378364.3	37	c.1419C>G	CCDS32511.1																																																																																				0.657	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430000.2	NM_000485		5	47	0	0	0	0	5	47				
ALOX12	239	broad.mit.edu	37	17	6909233	6909233	+	Silent	SNP	G	G	A	rs114312186	byFrequency	TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr17:6909233G>A	ENST00000251535.6	+	10	1358	c.1305G>A	c.(1303-1305)caG>caA	p.Q435Q	AC027763.2_ENST00000573939.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	435	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CGGCAGCTCAGCTGACCTACT	0.632													G|||	7	0.00139776	0.0053	0.0	5008	,	,		10848	0.0		0.0	False		,,,				2504	0.0					uc002gdx.3		NA																	0				central_nervous_system(1)	1						c.(1303-1305)CAG>CAA		arachidonate 12-lipoxygenase		G		33,4373	38.4+/-70.7	0,33,2170	69.0	67.0	68.0		1305	4.3	1.0	17	dbSNP_132	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ALOX12	NM_000697.2		0,34,6469	AA,AG,GG		0.0116,0.749,0.2614		435/664	6909233	34,12972	2203	4300	6503	SO:0001819	synonymous_variant	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6909233G>A	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1305G>A	17.37:g.6909233G>A						uc002gdy.1_Intron	p.Q435Q	NM_000697	NP_000688	P18054	LOX12_HUMAN			10	1358	+			435			Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Silent	SNP	ENST00000251535.6	37	c.1305G>A	CCDS11084.1																																																																																				0.632	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			3	27	0	0	0	0	3	27				
TP53	7157	broad.mit.edu	37	17	7578532	7578532	+	Missense_Mutation	SNP	A	A	T	rs28934873		TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr17:7578532A>T	ENST00000269305.4	-	5	587	c.398T>A	c.(397-399)aTg>aAg	p.M133K	TP53_ENST00000420246.2_Missense_Mutation_p.M133K|TP53_ENST00000455263.2_Missense_Mutation_p.M133K|TP53_ENST00000359597.4_Missense_Mutation_p.M133K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.M133K|TP53_ENST00000445888.2_Missense_Mutation_p.M133K	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	133	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		KM -> NL (in a sporadic cancer; somatic mutation).|M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934873). {ECO:0000269|PubMed:1933902}.|M -> V (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.M133K(12)|p.0?(8)|p.M133R(5)|p.N131fs*27(2)|p.M133T(2)|p.V73fs*9(1)|p.M133fs*37(1)|p.S127fs*36(1)|p.Y126fs*11(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*13(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)	TTGGCAAAACATCTTGTTGAG	0.562		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		37	Substitution - Missense(19)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(3)	p.M133K(12)|p.0?(7)|p.M133R(5)|p.M133fs*37(3)|p.M133I(3)|p.M133L(2)|p.N131fs*27(2)|p.M133T(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.Y126fs*11(1)|p.M133V(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*16(1)|p.M133fs*13(1)	haematopoietic_and_lymphoid_tissue(7)|oesophagus(5)|stomach(4)|central_nervous_system(4)|bone(4)|urinary_tract(3)|breast(3)|large_intestine(2)|adrenal_gland(1)|liver(1)|lung(1)|prostate(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM910373|CM973400	TP53	M	rs28934873	c.(397-399)ATG>AAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							48.0	49.0	48.0					17																	7578532		2203	4300	6503	SO:0001583	missense	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.chr17:7578532A>T	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.398T>A	17.37:g.7578532A>T	ENSP00000269305:p.Met133Lys	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.M133K|TP53_uc002gih.2_Missense_Mutation_p.M133K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.M1K|TP53_uc010cng.1_Missense_Mutation_p.M1K|TP53_uc002gii.1_Missense_Mutation_p.M1K|TP53_uc010cnh.1_Missense_Mutation_p.M133K|TP53_uc010cni.1_Missense_Mutation_p.M133K|TP53_uc002gij.2_Missense_Mutation_p.M133K|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.M40K|TP53_uc002gio.2_Missense_Mutation_p.M1K|TP53_uc010vug.1_Missense_Mutation_p.M94K	p.M133K	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	592	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	133		KM -> NL (in a sporadic cancer; somatic mutation).|M -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> I (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.398T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.834113	0.71373	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99771	-6.71;-6.71;-6.71;-6.71;-6.71;-6.71;-6.71;-6.71;-6.71	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);	0.072317	0.56097	D	0.000036	D	0.99048	0.9674	N	0.08118	0	0.43874	D	0.996482	D;B;B;P;B;B;D	0.62365	0.991;0.006;0.005;0.805;0.002;0.007;0.989	P;B;B;P;B;B;P	0.59643	0.861;0.102;0.058;0.733;0.078;0.165;0.849	D	0.98945	1.0792	10	0.87932	D	0	-10.9959	13.8301	0.63375	1.0:0.0:0.0:0.0	.	94;133;133;40;133;133;133	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	K	133;133;133;133;133;133;122;40;1;40;1;133	ENSP00000410739:M133K;ENSP00000352610:M133K;ENSP00000269305:M133K;ENSP00000398846:M133K;ENSP00000391127:M133K;ENSP00000391478:M133K;ENSP00000425104:M1K;ENSP00000423862:M40K;ENSP00000424104:M133K	ENSP00000269305:M133K	M	-	2	0	TP53	7519257	1.000000	0.71417	0.997000	0.53966	0.797000	0.45037	9.283000	0.95860	2.206000	0.71126	0.533000	0.62120	ATG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	12	0	0	0	0	18	12				
STX8	9482	broad.mit.edu	37	17	9448488	9448488	+	Splice_Site	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr17:9448488C>T	ENST00000306357.4	-	4	751		c.e4+1		STX8_ENST00000574431.1_Splice_Site|RP11-565F19.3_ENST00000574460.1_RNA	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8						endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						AAACATCCTACCTGATTAGAT	0.418																																						uc002glx.2		NA																	0				central_nervous_system(1)	1						c.e4+1		syntaxin 8							110.0	99.0	103.0					17																	9448488		2203	4300	6503	SO:0001630	splice_region_variant	9482				transport	endoplasmic reticulum|integral to plasma membrane		g.chr17:9448488C>T	AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844	ENST00000306357.4:c.323+1G>A	17.37:g.9448488C>T							p.R108_splice	NM_004853	NP_004844	Q9UNK0	STX8_HUMAN			4	473	-								O60712|Q53XT8	Splice_Site	SNP	ENST00000306357.4	37	c.323_splice	CCDS32565.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504870	0.85176	.	.	ENSG00000170310	ENST00000306357	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8716	0.92317	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STX8	9389213	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.608000	0.67654	2.760000	0.94817	0.655000	0.94253	.		0.418	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439206.3	NM_004853	Intron	5	36	0	0	0	0	5	36				
DNAH9	1770	broad.mit.edu	37	17	11511572	11511572	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr17:11511572G>A	ENST00000262442.4	+	2	612	c.544G>A	c.(544-546)Gga>Aga	p.G182R	DNAH9_ENST00000454412.2_Missense_Mutation_p.G182R|DNAH9_ENST00000579828.1_Missense_Mutation_p.G182R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	182	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCAAGTGAAGGGAAAAACTTT	0.512																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(544-546)GGA>AGA		dynein, axonemal, heavy chain 9 isoform 2							126.0	127.0	127.0					17																	11511572		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11511572G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.544G>A	17.37:g.11511572G>A	ENSP00000262442:p.Gly182Arg					DNAH9_uc002gnd.1_Missense_Mutation_p.G182R	p.G182R	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	2	612	+		Breast(5;0.0122)|all_epithelial(5;0.131)	182			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.544G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668369	0.88348	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.34275	1.42;1.37	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.63034	0.2477	M	0.83118	2.625	0.80722	D	1	P;D	0.64830	0.947;0.994	P;P	0.62885	0.752;0.908	T	0.61197	-0.7111	10	0.37606	T	0.19	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	182;182	Q9NYC9;E7EP17	DYH9_HUMAN;.	R	182	ENSP00000262442:G182R;ENSP00000414874:G182R	ENSP00000262442:G182R	G	+	1	0	DNAH9	11452297	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	9.480000	0.97931	2.753000	0.94483	0.655000	0.94253	GGA		0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		10	118	0	0	0	0	10	118				
CNP	1267	broad.mit.edu	37	17	40125676	40125676	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr17:40125676G>A	ENST00000393892.3	+	4	1144	c.1000G>A	c.(1000-1002)Ggc>Agc	p.G334S	CNP_ENST00000591072.1_Missense_Mutation_p.G99S|CNP_ENST00000393888.1_Missense_Mutation_p.G314S|CNP_ENST00000472031.1_3'UTR	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	334					adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		CATCACCCTCGGCTGTGCAGC	0.647																																						uc002hyl.1		NA																	0					0						c.(1000-1002)GGC>AGC		2',3'-cyclic nucleotide 3' phosphodiesterase							28.0	35.0	33.0					17																	40125676		2016	4146	6162	SO:0001583	missense	1267				cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding	g.chr17:40125676G>A		CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.1000G>A	17.37:g.40125676G>A	ENSP00000377470:p.Gly334Ser					CNP_uc010wfz.1_Missense_Mutation_p.G211S|CNP_uc002hym.1_Missense_Mutation_p.G314S|CNP_uc010wga.1_Missense_Mutation_p.G99S|CNP_uc002hyn.1_Missense_Mutation_p.G99S	p.G334S	NM_033133	NP_149124	P09543	CN37_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)	4	1144	+		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)	334						Missense_Mutation	SNP	ENST00000393892.3	37	c.1000G>A	CCDS11414.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221499	0.79464	.	.	ENSG00000173786	ENST00000393892;ENST00000310262;ENST00000393888	T;T	0.63417	-0.04;-0.04	4.83	4.83	0.62350	RNA ligase/cyclic nucleotide phosphodiesterase (1);	0.237838	0.42821	D	0.000642	T	0.77377	0.4121	M	0.68593	2.085	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79727	-0.1682	10	0.72032	D	0.01	-27.0751	15.8956	0.79333	0.0:0.0:1.0:0.0	.	211;334	B4DI06;P09543	.;CN37_HUMAN	S	334;210;314	ENSP00000377470:G334S;ENSP00000377466:G314S	ENSP00000309643:G210S	G	+	1	0	CNP	37379202	1.000000	0.71417	0.956000	0.39512	0.338000	0.28826	8.737000	0.91562	2.509000	0.84616	0.561000	0.74099	GGC		0.647	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257443.2			7	38	0	0	0	0	7	38				
NMT1	4836	broad.mit.edu	37	17	43175850	43175850	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr17:43175850C>T	ENST00000592782.1	+	8	945	c.814C>T	c.(814-816)Cac>Tac	p.H272Y	NMT1_ENST00000258960.2_Missense_Mutation_p.H272Y			P30419	NMT1_HUMAN	N-myristoyltransferase 1	272					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				CAGGCGGGTTCACCTGGAGGG	0.527																																						uc002ihz.2		NA																	0					0						c.(814-816)CAC>TAC		N-myristoyltransferase 1							110.0	104.0	106.0					17																	43175850		2203	4300	6503	SO:0001583	missense	4836				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	g.chr17:43175850C>T		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.814C>T	17.37:g.43175850C>T	ENSP00000468424:p.His272Tyr					NMT1_uc002iia.2_RNA	p.H272Y	NM_021079	NP_066565	P30419	NMT1_HUMAN			7	832	+		Prostate(33;0.155)	272					A8K7C1|Q9UE09	Missense_Mutation	SNP	ENST00000592782.1	37	c.814C>T	CCDS11494.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565255	0.86439	.	.	ENSG00000136448	ENST00000258960	T	0.42900	0.96	5.49	5.49	0.81192	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, N-terminal (1);	0.045406	0.85682	D	0.000000	T	0.57242	0.2040	L	0.48986	1.54	0.50313	D	0.999861	D	0.67145	0.996	D	0.67548	0.952	T	0.57370	-0.7823	10	0.87932	D	0	-19.9427	14.4168	0.67155	0.1473:0.8527:0.0:0.0	.	272	P30419	NMT1_HUMAN	Y	272	ENSP00000258960:H272Y	ENSP00000258960:H272Y	H	+	1	0	NMT1	40531376	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.068000	0.64364	2.865000	0.98341	0.655000	0.94253	CAC		0.527	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		11	100	0	0	0	0	11	100				
MYO5B	4645	broad.mit.edu	37	18	47373592	47373592	+	Silent	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr18:47373592C>T	ENST00000285039.7	-	33	4682	c.4383G>A	c.(4381-4383)cgG>cgA	p.R1461R	MYO5B_ENST00000324581.6_Silent_p.R576R|MYO5B_ENST00000592688.1_Silent_p.R31R|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1461					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCTTCTCTTTCCGCTGGACCG	0.572																																						uc002leb.2		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(4381-4383)CGG>CGA		myosin VB							73.0	75.0	75.0					18																	47373592		2083	4225	6308	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47373592C>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.4383G>A	18.37:g.47373592C>T						MYO5B_uc002ldz.2_Silent_p.R31R|MYO5B_uc002lea.2_Silent_p.R576R	p.R1461R	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	33	4671	-			1461			Potential.		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.4383G>A	CCDS42436.1																																																																																				0.572	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			8	26	0	0	0	0	8	26				
MUC16	94025	broad.mit.edu	37	19	9048921	9048921	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr19:9048921C>T	ENST00000397910.4	-	5	32913	c.32710G>A	c.(32710-32712)Gag>Aag	p.E10904K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10906	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGTGGTCTCTGGTTCACCA	0.502																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(32710-32712)GAG>AAG		mucin 16							123.0	110.0	114.0					19																	9048921		1898	4132	6030	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048921C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32710G>A	19.37:g.9048921C>T	ENSP00000381008:p.Glu10904Lys						p.E10904K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	32914	-			10906			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.32710G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	9.870	1.198744	0.22121	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	2.98	1.89	0.25635	.	.	.	.	.	T	0.04543	0.0124	L	0.44542	1.39	.	.	.	P	0.50528	0.936	P	0.47744	0.556	T	0.28138	-1.0053	8	0.87932	D	0	.	7.7058	0.28648	0.0:0.7206:0.2794:0.0	.	10904	B5ME49	.	K	10904	ENSP00000381008:E10904K	ENSP00000381008:E10904K	E	-	1	0	MUC16	8909921	0.002000	0.14202	0.002000	0.10522	0.174000	0.22865	0.285000	0.18883	0.758000	0.33059	0.461000	0.40582	GAG		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	65	0	0	0	0	14	65				
C19orf44	84167	broad.mit.edu	37	19	16629998	16629998	+	Intron	SNP	C	C	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr19:16629998C>G	ENST00000221671.3	+	9	2170				CHERP_ENST00000546361.2_Missense_Mutation_p.R908P|CHERP_ENST00000198939.6_Missense_Mutation_p.R919P|CTD-3222D19.2_ENST00000409035.1_3'UTR|CHERP_ENST00000544299.1_5'UTR	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GGCCTTCATGCGGGCGATGAA	0.637																																						uc002nei.1		NA																	0				ovary(2)	2						c.(2722-2724)CGC>CCC		calcium homeostasis endoplasmic reticulum							42.0	44.0	43.0					19																	16629998		2006	4159	6165	SO:0001627	intron_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16629998C>G	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1972-907C>G	19.37:g.16629998C>G						MED26_uc002nee.2_RNA|C19orf44_uc002neh.1_Intron|C19orf44_uc010eai.1_Intron|CHERP_uc010xpg.1_Missense_Mutation_p.R447P	p.R908P	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN			17	2797	-			908					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.2723G>C	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015373	0.75161	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.52295	0.67;0.68	5.21	5.21	0.72293	.	.	.	.	.	T	0.65533	0.2700	L	0.55481	1.735	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.68303	-0.5444	9	0.87932	D	0	-22.4962	17.7484	0.88427	0.0:1.0:0.0:0.0	.	908	Q8IWX8	CHERP_HUMAN	P	908;919	ENSP00000439856:R908P;ENSP00000198939:R919P	ENSP00000198939:R919P	R	-	2	0	CHERP	16490998	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	7.290000	0.78711	2.434000	0.82447	0.555000	0.69702	CGC		0.637	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		3	13	0	0	0	0	3	13				
SPTBN4	57731	broad.mit.edu	37	19	40993612	40993612	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr19:40993612G>A	ENST00000352632.3	+	3	264	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	SPTBN4_ENST00000344104.3_Missense_Mutation_p.E60K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E60K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E60K|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E60K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	60	Actin-binding.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGATGAGCGGGAAGCCGTGCA	0.647																																						uc002ony.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(178-180)GAA>AAA		spectrin, beta, non-erythrocytic 4 isoform							44.0	45.0	45.0					19																	40993612		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:40993612G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.178G>A	19.37:g.40993612G>A	ENSP00000263373:p.Glu60Lys					SPTBN4_uc002onx.2_Missense_Mutation_p.E60K|SPTBN4_uc002onz.2_Missense_Mutation_p.E60K	p.E60K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		3	264	+			60			Actin-binding.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.178G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329225	0.95733	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.60672	0.17;0.17;0.17	4.28	4.28	0.50868	Calponin homology domain (2);	0.094520	0.41605	U	0.000851	T	0.68961	0.3058	M	0.68728	2.09	0.80722	D	1	D;D	0.63880	0.982;0.993	B;P	0.56916	0.446;0.809	T	0.72462	-0.4286	10	0.51188	T	0.08	.	15.6338	0.76933	0.0:0.0:1.0:0.0	.	60;60	Q9H254;Q71S06	SPTN4_HUMAN;.	K	60	ENSP00000263373:E60K;ENSP00000340345:E60K;ENSP00000340741:E60K	ENSP00000340345:E60K	E	+	1	0	SPTBN4	45685452	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.595000	0.98260	2.215000	0.71742	0.591000	0.81541	GAA		0.647	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			8	103	0	0	0	0	8	103				
PSG6	5675	broad.mit.edu	37	19	43414874	43414874	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr19:43414874C>T	ENST00000292125.2	-	3	608	c.564G>A	c.(562-564)atG>atA	p.M188I	PSG6_ENST00000402603.4_Missense_Mutation_p.M188I|PSG6_ENST00000187910.2_Missense_Mutation_p.M188I	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	188	Ig-like C2-type 1.		M -> R (in dbSNP:rs59587483).		female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ACCTGTGAGTCATAGGGAGGT	0.493																																						uc002ovj.1		NA																	0				ovary(1)|skin(1)	2						c.(562-564)ATG>ATA		pregnancy specific beta-1-glycoprotein 6 isoform							226.0	228.0	228.0					19																	43414874		2201	4300	6501	SO:0001583	missense	5675				female pregnancy	extracellular region		g.chr19:43414874C>T		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.564G>A	19.37:g.43414874C>T	ENSP00000292125:p.Met188Ile					PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Missense_Mutation_p.M195I|PSG6_uc002ovi.2_Missense_Mutation_p.M189I|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_5'UTR|PSG6_uc002ovf.1_Missense_Mutation_p.M188I|PSG6_uc002ovg.1_Missense_Mutation_p.M188I	p.M188I	NM_002782	NP_002773	Q00889	PSG6_HUMAN			3	616	-		Prostate(69;0.00899)	188			Ig-like C2-type 1.		O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.564G>A	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	0.018	-1.475928	0.01035	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.00682	5.86;5.86;5.86	1.64	-3.28	0.05033	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00384	0.0012	N	0.01686	-0.76	0.09310	N	1	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.10450	0.005;0.004;0.004	T	0.41805	-0.9488	9	0.21014	T	0.42	.	4.5332	0.12015	0.2903:0.3584:0.3513:0.0	.	188;188;188	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	I	188	ENSP00000187910:M188I;ENSP00000385736:M188I;ENSP00000292125:M188I	ENSP00000187910:M188I	M	-	3	0	PSG6	48106714	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.612000	0.05616	-3.004000	0.00275	-2.929000	0.00088	ATG		0.493	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		86	145	0	0	0	0	86	145				
FTL	2512	broad.mit.edu	37	19	49468783	49468783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr19:49468783C>T	ENST00000331825.6	+	1	226	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	7	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	CCAGATTCGTCAGAATTATTC	0.567																																						uc002plo.2		NA																	0					0						c.(19-21)CAG>TAG		ferritin, light polypeptide	Iron Dextran(DB00893)						61.0	61.0	61.0					19																	49468783		2203	4300	6503	SO:0001587	stop_gained	2512				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity	g.chr19:49468783C>T	AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"""ferritin light polypeptide-like 3"", ""L apoferritin"", ""ferritin L subunit"", ""ferritin light chain"", ""ferritin L-chain"", ""neurodegeneration with brain iron accumulation 3"""	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.19C>T	19.37:g.49468783C>T	ENSP00000366525:p.Gln7*					FTL_uc002pln.1_Nonsense_Mutation_p.Q7*	p.Q7*	NM_000146	NP_000137	P02792	FRIL_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	1	218	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	7			Ferritin-like diiron.		B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Nonsense_Mutation	SNP	ENST00000331825.6	37	c.19C>T	CCDS33070.1	.	.	.	.	.	.	.	.	.	.	C	39	7.487971	0.98316	.	.	ENSG00000087086	ENST00000331825;ENST00000397259	.	.	.	5.54	5.54	0.83059	.	0.058069	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.3411	0.87296	0.0:1.0:0.0:0.0	.	.	.	.	X	7	.	ENSP00000366525:Q7X	Q	+	1	0	FTL	54160595	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.139000	0.77314	2.772000	0.95346	0.655000	0.94253	CAG		0.567	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466233.1	NM_000146		69	52	0	0	0	0	69	52				
LILRA5	353514	broad.mit.edu	37	19	54823872	54823872	+	Missense_Mutation	SNP	G	G	C	rs369179682		TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr19:54823872G>C	ENST00000301219.3	-	2	142	c.23C>G	c.(22-24)tCt>tGt	p.S8C	LILRA5_ENST00000446712.3_Missense_Mutation_p.S8C|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000432233.3_Missense_Mutation_p.S8C|LILRA5_ENST00000346508.3_Missense_Mutation_p.S8C	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	8					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGCTGTGCAGATGGATGAGA	0.597																																						uc002qfe.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(22-24)TCT>TGT		leukocyte immunoglobulin-like receptor subfamily		G	CYS/SER,CYS/SER,CYS/SER,CYS/SER	0,4406		0,0,2203	45.0	35.0	38.0		23,23,23,23	-0.1	0.0	19		38	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	LILRA5	NM_021250.2,NM_181879.2,NM_181985.2,NM_181986.2	112,112,112,112	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	8/300,8/266,8/288,8/254	54823872	1,13005	2203	4300	6503	SO:0001583	missense	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54823872G>C	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.23C>G	19.37:g.54823872G>C	ENSP00000301219:p.Ser8Cys					LILRA5_uc002qff.2_Missense_Mutation_p.S8C|LILRA5_uc010yev.1_Missense_Mutation_p.S8C|LILRA5_uc010yew.1_Missense_Mutation_p.S8C|LILRA5_uc002qfh.1_Missense_Mutation_p.S8C|LILRA5_uc002qfg.1_Missense_Mutation_p.S8C	p.S8C	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	2	143	-	Ovarian(34;0.19)		8					A6NHI3	Missense_Mutation	SNP	ENST00000301219.3	37	c.23C>G	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834174	0.32421	0.0	1.16E-4	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	T;T;T;T	0.00557	6.96;6.82;6.62;6.77	2.76	-0.0909	0.13663	.	.	.	.	.	T	0.00998	0.0033	L	0.40543	1.245	0.09310	N	1	D;D;D;D	0.76494	0.997;0.997;0.999;0.997	P;P;D;P	0.66847	0.875;0.871;0.947;0.79	T	0.55438	-0.8141	9	0.87932	D	0	.	6.2697	0.20947	0.0:0.0:0.4674:0.5326	.	8;8;8;8	A6NI73-4;A6NI73-3;A6NI73-2;A6NI73	.;.;.;LIRA5_HUMAN	C	8	ENSP00000301219:S8C;ENSP00000302948:S8C;ENSP00000389499:S8C;ENSP00000404236:S8C	ENSP00000301219:S8C	S	-	2	0	LILRA5	59515684	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	0.370000	0.20433	0.377000	0.24735	0.411000	0.27672	TCT		0.597	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		5	40	0	0	0	0	5	40				
SLC27A5	10998	broad.mit.edu	37	19	59011756	59011756	+	Missense_Mutation	SNP	G	G	T	rs567812094		TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr19:59011756G>T	ENST00000263093.2	-	6	1527	c.1418C>A	c.(1417-1419)gCg>gAg	p.A473E	SLC27A5_ENST00000599700.1_5'Flank|SLC27A5_ENST00000601355.1_Missense_Mutation_p.A389E|SLC27A5_ENST00000594786.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	473					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AGGCTCCGCCGCCTCCATGTC	0.627																																						uc002qtc.2		NA																	0					0						c.(1417-1419)GCG>GAG		solute carrier family 27 (fatty acid							104.0	95.0	98.0					19																	59011756		2203	4300	6503	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59011756G>T	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1418C>A	19.37:g.59011756G>T	ENSP00000263093:p.Ala473Glu					SLC27A5_uc002qtb.2_5'Flank	p.A473E	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	6	1528	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	473			Cytoplasmic (Probable).		B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.1418C>A	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257427	0.22965	.	.	ENSG00000083807	ENST00000263093	T	0.45668	0.89	5.33	0.361	0.16107	AMP-dependent synthetase/ligase (1);	0.888298	0.09848	N	0.747939	T	0.27134	0.0665	N	0.26042	0.785	0.09310	N	1	B	0.28760	0.221	B	0.29785	0.107	T	0.29427	-1.0012	10	0.59425	D	0.04	-0.7938	4.0911	0.09970	0.1763:0.0:0.5013:0.3224	.	473	Q9Y2P5	S27A5_HUMAN	E	473	ENSP00000263093:A473E	ENSP00000263093:A473E	A	-	2	0	SLC27A5	63703568	0.260000	0.24053	0.001000	0.08648	0.207000	0.24258	2.403000	0.44530	0.313000	0.23062	-0.251000	0.11542	GCG		0.627	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		10	48	1	0	1.05e-09	2.19e-09	10	48				
ANKRD36	375248	broad.mit.edu	37	2	97808556	97808556	+	Silent	SNP	A	A	G	rs551610867		TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr2:97808556A>G	ENST00000461153.2	+	8	1129	c.885A>G	c.(883-885)ggA>ggG	p.G295G	ANKRD36_ENST00000420699.2_Silent_p.G295G			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	295										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TAAAGGATGGACAAAAATCTG	0.348																																						uc010yva.1		NA																	0					0						c.(883-885)GGA>GGG		ankyrin repeat domain 36							52.0	48.0	49.0					2																	97808556		692	1590	2282	SO:0001819	synonymous_variant	375248							g.chr2:97808556A>G	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.885A>G	2.37:g.97808556A>G						ANKRD36_uc010yuz.1_RNA|ANKRD36_uc010fic.2_Intron|ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_RNA	p.G295G	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			8	1129	+			295					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Silent	SNP	ENST00000461153.2	37	c.885A>G	CCDS54379.1																																																																																				0.348	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			2	3	0	0	0	0	2	3				
SLC9A4	389015	broad.mit.edu	37	2	103120006	103120006	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr2:103120006G>A	ENST00000295269.4	+	3	1277	c.820G>A	c.(820-822)Ggg>Agg	p.G274R		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	274					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CATCGTTGTGGGGCTTGGAGG	0.393																																						uc002tbz.3		NA																	0				skin(2)|central_nervous_system(1)	3						c.(820-822)GGG>AGG		solute carrier family 9 (sodium/hydrogen							335.0	315.0	322.0					2																	103120006		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103120006G>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.820G>A	2.37:g.103120006G>A	ENSP00000295269:p.Gly274Arg						p.G274R	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			3	1277	+			274			Helical; Name=H/M6; (Potential).		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.820G>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587265	0.46110	.	.	ENSG00000180251	ENST00000295269	T	0.15834	2.39	5.48	4.6	0.57074	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.42585	0.1209	M	0.83953	2.67	0.46981	D	0.999279	D	0.76494	0.999	D	0.70487	0.969	T	0.43081	-0.9413	10	0.59425	D	0.04	.	11.717	0.51659	0.1422:0.0:0.8578:0.0	.	274	Q6AI14	SL9A4_HUMAN	R	274	ENSP00000295269:G274R	ENSP00000295269:G274R	G	+	1	0	SLC9A4	102486438	1.000000	0.71417	0.680000	0.29994	0.063000	0.16089	6.764000	0.74960	1.450000	0.47717	0.563000	0.77884	GGG		0.393	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		8	46	0	0	0	0	8	46				
TTN	7273	broad.mit.edu	37	2	179594065	179594065	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr2:179594065A>G	ENST00000591111.1	-	62	18091	c.17867T>C	c.(17866-17868)gTa>gCa	p.V5956A	TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V6273A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V5029A|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12747	Ig-like 40.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATTGGATACAATGCACTG	0.433																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(15085-15087)GTA>GCA		titin isoform N2-A							115.0	111.0	112.0					2																	179594065		1895	4134	6029	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594065A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17867T>C	2.37:g.179594065A>G	ENSP00000465570:p.Val5956Ala					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V1690A	p.V5029A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		61	15310	-			5956					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.15086T>C		.	.	.	.	.	.	.	.	.	.	A	7.142	0.581961	0.13749	.	.	ENSG00000155657	ENST00000342992	T	0.60171	0.21	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.43545	0.1252	N	0.12853	0.265	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.35871	-0.9771	9	0.87932	D	0	.	16.3526	0.83220	1.0:0.0:0.0:0.0	.	5956	Q8WZ42	TITIN_HUMAN	A	5029	ENSP00000343764:V5029A	ENSP00000343764:V5029A	V	-	2	0	TTN	179302310	1.000000	0.71417	0.008000	0.14137	0.287000	0.27160	6.373000	0.73128	2.255000	0.74692	0.533000	0.62120	GTA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	63	0	0	0	0	11	63				
NCKAP1	10787	broad.mit.edu	37	2	183790481	183790481	+	Silent	SNP	C	C	G	rs184562913		TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr2:183790481C>G	ENST00000361354.4	-	31	3708	c.3336G>C	c.(3334-3336)ctG>ctC	p.L1112L	NCKAP1_ENST00000360982.2_Silent_p.L1118L|NCKAP1_ENST00000478449.1_5'Flank	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	1112					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATGCATTTCTCAGCAAGACAT	0.323													C|||	1	0.000199681	0.0	0.0	5008	,	,		16883	0.001		0.0	False		,,,				2504	0.0					uc002upc.2		NA																	0				ovary(2)	2						c.(3334-3336)CTG>CTC		NCK-associated protein 1 isoform 1							137.0	133.0	135.0					2																	183790481		2203	4300	6503	SO:0001819	synonymous_variant	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183790481C>G	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.3336G>C	2.37:g.183790481C>G						NCKAP1_uc002upb.2_Silent_p.L1118L	p.L1112L	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		31	3738	-			1112					O60329|Q53QN5|Q53S94|Q53Y35	Silent	SNP	ENST00000361354.4	37	c.3336G>C	CCDS2287.1																																																																																				0.323	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		7	78	0	0	0	0	7	78				
ZNF804A	91752	broad.mit.edu	37	2	185800736	185800736	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr2:185800736C>A	ENST00000302277.6	+	4	1207	c.613C>A	c.(613-615)Cag>Aag	p.Q205K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	205							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGATCAAGCCCAGGGGATTCA	0.418																																						uc002uph.2		NA																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(613-615)CAG>AAG		zinc finger protein 804A							65.0	68.0	67.0					2																	185800736		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185800736C>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.613C>A	2.37:g.185800736C>A	ENSP00000303252:p.Gln205Lys						p.Q205K	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	1207	+			205					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.613C>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559487	0.45590	.	.	ENSG00000170396	ENST00000302277	T	0.05996	3.36	5.32	3.49	0.39957	.	1.031200	0.07718	N	0.943209	T	0.07593	0.0191	L	0.38175	1.15	0.27928	N	0.937987	B	0.15473	0.013	B	0.12156	0.007	T	0.24261	-1.0165	10	0.72032	D	0.01	-0.0747	9.712	0.40251	0.139:0.7866:0.0:0.0744	.	205	Q7Z570	Z804A_HUMAN	K	205	ENSP00000303252:Q205K	ENSP00000303252:Q205K	Q	+	1	0	ZNF804A	185508981	0.144000	0.22641	0.991000	0.47740	0.992000	0.81027	2.048000	0.41278	1.229000	0.43630	0.467000	0.42956	CAG		0.418	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		23	56	1	0	1.97e-08	4.05e-08	23	56				
COL5A2	1290	broad.mit.edu	37	2	189898825	189898825	+	Missense_Mutation	SNP	C	C	T	rs200703515		TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr2:189898825C>T	ENST00000374866.3	-	54	4745	c.4471G>A	c.(4471-4473)Gtt>Att	p.V1491I		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1491	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAATTTCAACGCCGAATTCC	0.473																																						uc002uqk.2		NA																	0				ovary(2)	2						c.(4471-4473)GTT>ATT		alpha 2 type V collagen preproprotein							154.0	125.0	135.0					2																	189898825		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189898825C>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4471G>A	2.37:g.189898825C>T	ENSP00000364000:p.Val1491Ile					COL5A2_uc010frx.2_Missense_Mutation_p.V1067I	p.V1491I	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		54	4746	-			1491			Fibrillar collagen NC1.		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.4471G>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	3.383	-0.125977	0.06795	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	T	0.73258	-0.73	5.1	-10.2	0.00374	Fibrillar collagen, C-terminal (4);	1.286960	0.05601	N	0.576360	T	0.37156	0.0993	N	0.05078	-0.115	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.17410	-1.0370	10	0.07175	T	0.84	.	6.3067	0.21143	0.1411:0.2093:0.0702:0.5794	.	1131;1491	Q5PR22;P05997	.;CO5A2_HUMAN	I	1491;1131	ENSP00000364000:V1491I	ENSP00000364000:V1491I	V	-	1	0	COL5A2	189607070	0.001000	0.12720	0.002000	0.10522	0.570000	0.35934	-1.547000	0.02186	-3.193000	0.00219	-0.749000	0.03505	GTT		0.473	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		7	51	0	0	0	0	7	51				
RAPH1	65059	broad.mit.edu	37	2	204305402	204305402	+	Silent	SNP	C	C	G	rs144494517	byFrequency	TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr2:204305402C>G	ENST00000319170.5	-	14	2810	c.2511G>C	c.(2509-2511)ccG>ccC	p.P837P	RAPH1_ENST00000374493.3_Silent_p.P889P|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	837					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTAATGTTGGCGGGGGTACTG	0.582																																						uc002vad.2		NA																	0				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						c.(2509-2511)CCG>CCC		Ras association and pleckstrin homology domains							44.0	52.0	50.0					2																	204305402		2202	4300	6502	SO:0001819	synonymous_variant	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204305402C>G	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.2511G>C	2.37:g.204305402C>G							p.P837P	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN			14	2736	-			837					Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	c.2511G>C	CCDS2359.1																																																																																				0.582	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		7	34	0	0	0	0	7	34				
BTG3	10950	broad.mit.edu	37	21	18981460	18981460	+	Start_Codon_SNP	SNP	C	C	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr21:18981460C>A	ENST00000348354.6	-	2	259	c.3G>T	c.(1-3)atG>atT	p.M1I	BTG3_ENST00000339775.6_Start_Codon_SNP_p.M1I|BTG3_ENST00000464058.1_5'UTR	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	1					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TTTCATTCTTCATTTTTTTCC	0.348																																						uc002ykk.2		NA																	0					0						c.(1-3)ATG>ATT		B-cell translocation gene 3 isoform b							55.0	57.0	57.0					21																	18981460		2203	4300	6503	SO:0001582	initiator_codon_variant	10950				negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm		g.chr21:18981460C>A	D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.3G>T	21.37:g.18981460C>A	ENSP00000284879:p.Met1Ile					BTG3_uc002ykl.2_Missense_Mutation_p.M1I	p.M1I	NM_006806	NP_006797	Q14201	BTG3_HUMAN		Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)	2	263	-			1					D3DSC4|Q53XV1|Q96ET7	Missense_Mutation	SNP	ENST00000348354.6	37	c.3G>T	CCDS13569.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220832	0.79464	.	.	ENSG00000154640	ENST00000339775;ENST00000348354;ENST00000457956	.	.	.	4.45	4.45	0.53987	Anti-proliferative protein (2);	0.051014	0.64402	D	0.000001	T	0.78947	0.4364	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.81497	-0.0906	8	0.87932	D	0	-11.2279	15.4076	0.74890	0.0:1.0:0.0:0.0	.	1;1	Q14201-2;Q14201	.;BTG3_HUMAN	I	1	.	ENSP00000344609:M1I	M	-	3	0	BTG3	17903331	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	6.570000	0.73996	2.753000	0.94483	0.650000	0.86243	ATG		0.348	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1	NM_006806	Missense_Mutation	33	35	1	0	5.83e-16	1.24e-15	33	35				
TRPM2	7226	broad.mit.edu	37	21	45833913	45833913	+	Silent	SNP	C	C	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr21:45833913C>G	ENST00000397928.1	+	20	3547	c.3102C>G	c.(3100-3102)ctC>ctG	p.L1034L	TRPM2_ENST00000498430.1_3'UTR|AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000300482.5_Silent_p.L1034L|TRPM2_ENST00000397932.2_Silent_p.L1034L|TRPM2_ENST00000300481.9_Silent_p.L1014L|AP001065.2_ENST00000423310.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1034					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCTACCTGCTCTTCACCAACA	0.657																																						uc002zet.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3100-3102)CTC>CTG		transient receptor potential cation channel,							230.0	229.0	230.0					21																	45833913		2203	4300	6503	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45833913C>G	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3102C>G	21.37:g.45833913C>G						TRPM2_uc002zeu.1_Silent_p.L1034L|TRPM2_uc002zew.1_Silent_p.L1034L|TRPM2_uc010gpt.1_Silent_p.L1034L|TRPM2_uc002zex.1_Silent_p.L820L|TRPM2_uc002zey.1_Silent_p.L547L	p.L1034L	NM_003307	NP_003298	O94759	TRPM2_HUMAN			21	3315	+			1034			Helical; (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.3102C>G	CCDS13710.1																																																																																				0.657	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		38	299	0	0	0	0	38	299				
XIRP1	165904	broad.mit.edu	37	3	39230859	39230859	+	Silent	SNP	T	T	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr3:39230859T>G	ENST00000340369.3	-	2	306	c.78A>C	c.(76-78)ccA>ccC	p.P26P	XIRP1_ENST00000396251.1_Silent_p.P26P|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	26	Interaction with VASP.|Poly-Pro.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGGCTGGGGGTGGAGGGAGGG	0.637																																						uc003cjk.1		NA																	0				ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(76-78)CCA>CCC		xin actin-binding repeat containing 1																																				SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39230859T>G	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.78A>C	3.37:g.39230859T>G						XIRP1_uc003cji.2_Silent_p.P26P|XIRP1_uc003cjj.2_Intron	p.P26P	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	299	-			26			Interaction with VASP.|Poly-Pro.		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.78A>C	CCDS2683.1																																																																																				0.637	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		5	7	0	0	0	0	5	7				
SLC35G2	80723	broad.mit.edu	37	3	136573702	136573702	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr3:136573702C>G	ENST00000446465.2	+	2	1028	c.400C>G	c.(400-402)Cta>Gta	p.L134V	RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Missense_Mutation_p.L134V|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		AGTTCCATCTCTAGAACTGAT	0.428																																						uc003erf.3		NA																	0				ovary(1)	1						c.(400-402)CTA>GTA		transmembrane protein 22							189.0	171.0	177.0					3																	136573702		2203	4300	6503	SO:0001583	missense	80723					Golgi apparatus|integral to membrane		g.chr3:136573702C>G	BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.400C>G	3.37:g.136573702C>G	ENSP00000400839:p.Leu134Val					TMEM22_uc003erg.3_Missense_Mutation_p.L134V|TMEM22_uc010hub.2_Missense_Mutation_p.L134V	p.L134V	NM_001097600	NP_001091069	Q8TBE7	TMM22_HUMAN			2	614	+			134			DUF6 1.|Helical; (Potential).			Missense_Mutation	SNP	ENST00000446465.2	37	c.400C>G	CCDS3091.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414597	0.42817	.	.	ENSG00000168917	ENST00000446465;ENST00000393079	T;T	0.51574	0.7;0.7	5.44	1.3	0.21679	Drug/metabolite transporter (1);	0.000000	0.85682	D	0.000000	T	0.49660	0.1570	L	0.27053	0.805	0.51482	D	0.99992	D	0.69078	0.997	D	0.85130	0.997	T	0.40117	-0.9580	10	0.51188	T	0.08	.	8.0515	0.30581	0.0:0.5102:0.0:0.4898	.	134	Q8TBE7	TMM22_HUMAN	V	134	ENSP00000400839:L134V;ENSP00000376794:L134V	ENSP00000376794:L134V	L	+	1	2	TMEM22	138056392	0.845000	0.29573	0.990000	0.47175	0.950000	0.60333	1.487000	0.35540	-0.060000	0.13132	0.491000	0.48974	CTA		0.428	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		31	226	0	0	0	0	31	226				
MECOM	2122	broad.mit.edu	37	3	168838959	168838959	+	Silent	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr3:168838959G>A	ENST00000464456.1	-	6	1653	c.453C>T	c.(451-453)cgC>cgT	p.R151R	MECOM_ENST00000392736.3_Silent_p.R151R|MECOM_ENST00000494292.1_Silent_p.R339R|MECOM_ENST00000433243.2_Silent_p.R152R|MECOM_ENST00000264674.3_Silent_p.R216R|MECOM_ENST00000468789.1_Silent_p.R151R|MECOM_ENST00000460814.1_Silent_p.R151R|MECOM_ENST00000472280.1_Silent_p.R152R	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CATGCTGAGAGCGAATGTGCC	0.517																																						uc003ffi.3		NA																	0				lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(451-453)CGC>CGT		MDS1 and EVI1 complex locus isoform b							93.0	88.0	90.0					3																	168838959		2203	4300	6503	SO:0001819	synonymous_variant	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168838959G>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.453C>T	3.37:g.168838959G>A						MECOM_uc010hwk.1_Silent_p.R174R|MECOM_uc003ffj.3_Silent_p.R216R|MECOM_uc011bpi.1_Silent_p.R152R|MECOM_uc003ffn.3_Silent_p.R151R|MECOM_uc003ffk.2_Silent_p.R151R|MECOM_uc003ffl.2_Silent_p.R311R|MECOM_uc011bpj.1_Silent_p.R339R|MECOM_uc011bpk.1_Silent_p.R141R|MECOM_uc010hwn.2_Silent_p.R339R	p.R151R	NM_005241	NP_005232	Q03112	EVI1_HUMAN			6	722	-			151			Interaction with MAPK9, SMAD3 and probably SUV39H1.|C2H2-type 4.		Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	c.453C>T	CCDS54669.1																																																																																				0.517	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		39	22	0	0	0	0	39	22				
MCF2L2	23101	broad.mit.edu	37	3	183017859	183017859	+	Silent	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr3:183017859G>A	ENST00000328913.3	-	11	1536	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	MCF2L2_ENST00000414362.2_Silent_p.I413I|MCF2L2_ENST00000473233.1_Silent_p.I413I|MCF2L2_ENST00000447025.2_Silent_p.I413I	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	413							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGTTTCCATTGATGAAATCGT	0.488																																						uc003fli.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(1237-1239)ATC>ATT		Rho family guanine-nucleotide exchange factor							127.0	119.0	122.0					3																	183017859		2203	4300	6503	SO:0001819	synonymous_variant	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183017859G>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1239C>T	3.37:g.183017859G>A						MCF2L2_uc003flj.1_Silent_p.I413I|MCF2L2_uc011bqr.1_RNA|MCF2L2_uc003flp.1_3'UTR	p.I413I	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		11	1329	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		413			Spectrin.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	ENST00000328913.3	37	c.1239C>T	CCDS3243.1																																																																																				0.488	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		17	104	0	0	0	0	17	104				
PAK2	5062	broad.mit.edu	37	3	196529909	196529909	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr3:196529909C>G	ENST00000327134.3	+	4	632	c.310C>G	c.(310-312)Cga>Gga	p.R104G		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	104	Autoregulatory region. {ECO:0000250}.|GTPase-binding. {ECO:0000250}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		ACAGTGGGCTCGATTACTACA	0.378																																						uc003fwy.3		NA																	0				ovary(1)|lung(1)	2						c.(310-312)CGA>GGA		p21-activated kinase 2							85.0	74.0	78.0					3																	196529909		2203	4300	6503	SO:0001583	missense	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196529909C>G	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.310C>G	3.37:g.196529909C>G	ENSP00000314067:p.Arg104Gly						p.R104G	NM_002577	NP_002568	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	4	632	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		104			GTPase-binding (By similarity).|Autoregulatory region (By similarity).		Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	c.310C>G	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969478	0.74246	.	.	ENSG00000180370	ENST00000327134	D	0.86366	-2.11	5.51	4.63	0.57726	PAK-box/P21-Rho-binding (2);	0.060942	0.64402	D	0.000002	D	0.89863	0.6838	M	0.85777	2.775	0.80722	D	1	P	0.40107	0.703	B	0.44085	0.44	D	0.90401	0.4402	10	0.62326	D	0.03	.	13.2568	0.60083	0.0:0.9235:0.0:0.0765	.	104	Q13177	PAK2_HUMAN	G	104	ENSP00000314067:R104G	ENSP00000314067:R104G	R	+	1	2	PAK2	198014306	1.000000	0.71417	0.547000	0.28179	0.991000	0.79684	3.678000	0.54627	1.327000	0.45338	0.563000	0.77884	CGA		0.378	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		4	90	0	0	0	0	4	90				
STX18	53407	broad.mit.edu	37	4	4426946	4426946	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr4:4426946C>T	ENST00000306200.2	-	8	769	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	STX18_ENST00000505286.1_Missense_Mutation_p.E236K	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	236					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		TTTTCCTGTTCAAACTGTGAG	0.448																																						uc003gic.2		NA																	0					0						c.(706-708)GAA>AAA		syntaxin 18							142.0	117.0	126.0					4																	4426946		2203	4300	6503	SO:0001583	missense	53407				ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity	g.chr4:4426946C>T	AB028741	CCDS3377.1	4p16.3-p16.2	2013-09-23			ENSG00000168818	ENSG00000168818			15942	protein-coding gene	gene with protein product		606046				10788491	Standard	NM_016930		Approved	Ufe1	uc003gic.3	Q9P2W9	OTTHUMG00000090331	ENST00000306200.2:c.706G>A	4.37:g.4426946C>T	ENSP00000305810:p.Glu236Lys						p.E236K	NM_016930	NP_058626	Q9P2W9	STX18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)	8	790	-			236			Cytoplasmic (Potential).		Q596L3|Q5TZP5	Missense_Mutation	SNP	ENST00000306200.2	37	c.706G>A	CCDS3377.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580685	0.86748	.	.	ENSG00000168818	ENST00000505286;ENST00000306200;ENST00000512195;ENST00000507908	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	4.77	4.77	0.60923	.	0.050116	0.85682	D	0.000000	T	0.64951	0.2645	M	0.88775	2.98	0.80722	D	1	P	0.49696	0.927	P	0.44518	0.452	T	0.74959	-0.3486	10	0.54805	T	0.06	-22.13	18.0084	0.89216	0.0:1.0:0.0:0.0	.	236	Q9P2W9	STX18_HUMAN	K	236;236;155;155	ENSP00000426648:E236K;ENSP00000305810:E236K;ENSP00000425483:E155K;ENSP00000422376:E155K	ENSP00000305810:E236K	E	-	1	0	STX18	4477847	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	6.605000	0.74155	2.478000	0.83669	0.563000	0.77884	GAA		0.448	STX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206696.1			5	33	0	0	0	0	5	33				
ANKRD17	26057	broad.mit.edu	37	4	73957032	73957032	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr4:73957032G>C	ENST00000358602.4	-	29	6429	c.6313C>G	c.(6313-6315)Cat>Gat	p.H2105D	ANKRD17_ENST00000330838.6_Missense_Mutation_p.H1854D|ANKRD17_ENST00000509867.2_Missense_Mutation_p.H1992D	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2105	Ser-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGATTAGAATGAGCTGATGAA	0.498																																						uc003hgp.2		NA																	0				ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(6313-6315)CAT>GAT		ankyrin repeat domain protein 17 isoform a							190.0	189.0	189.0					4																	73957032		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73957032G>C	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.6313C>G	4.37:g.73957032G>C	ENSP00000351416:p.His2105Asp					ANKRD17_uc003hgo.2_Missense_Mutation_p.H1992D|ANKRD17_uc003hgq.2_Missense_Mutation_p.H1854D|ANKRD17_uc003hgr.2_Missense_Mutation_p.H2104D	p.H2105D	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		29	6430	-	Breast(15;0.000295)		2105			Ser-rich.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.6313C>G	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	8.789	0.930035	0.18131	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.64991	-0.13;-0.1;-0.11	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	T	0.56587	0.1995	L	0.40543	1.245	0.34649	D	0.721404	P;P;B;B	0.36874	0.572;0.572;0.436;0.436	B;B;B;B	0.36418	0.224;0.224;0.112;0.077	T	0.66960	-0.5791	10	0.41790	T	0.15	.	18.863	0.92280	0.0:0.0:1.0:0.0	.	2104;1854;2105;1992	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	D	2105;1512;1854;1992;489	ENSP00000351416:H2105D;ENSP00000332265:H1854D;ENSP00000427151:H1992D	ENSP00000332265:H1854D	H	-	1	0	ANKRD17	74175896	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.985000	0.70556	2.694000	0.91930	0.650000	0.86243	CAT		0.498	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		11	124	0	0	0	0	11	124				
TACR3	6870	broad.mit.edu	37	4	104579371	104579371	+	Splice_Site	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr4:104579371C>T	ENST00000304883.2	-	2	878		c.e2+1			NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3						aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AATTAACTTACGTGAAATGTT	0.393																																						uc003hxe.1		NA																	0				ovary(3)|lung(2)|breast(1)|skin(1)	7						c.e2+1		tachykinin receptor 3							92.0	88.0	90.0					4																	104579371		2203	4300	6503	SO:0001630	splice_region_variant	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104579371C>T	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.737+1G>A	4.37:g.104579371C>T							p.T246_splice	NM_001059	NP_001050	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	2	880	-		Hepatocellular(203;0.217)						Q0P510	Splice_Site	SNP	ENST00000304883.2	37	c.737_splice	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727760	0.89390	.	.	ENSG00000169836	ENST00000304883	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6475	0.95784	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TACR3	104798820	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.339000	0.72969	2.885000	0.99019	0.655000	0.94253	.		0.393	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059	Intron	16	50	0	0	0	0	16	50				
PCDH10	57575	broad.mit.edu	37	4	134072862	134072862	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr4:134072862G>A	ENST00000264360.5	+	1	2393	c.1567G>A	c.(1567-1569)Ggc>Agc	p.G523S	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	523	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G523R(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTCTGAGAACGGCTACTTGTA	0.602																																						uc003iha.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(1567-1569)GGC>AGC		protocadherin 10 isoform 1 precursor							69.0	72.0	71.0					4																	134072862		2201	4293	6494	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072862G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1567G>A	4.37:g.134072862G>A	ENSP00000264360:p.Gly523Ser					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.G523S	p.G523S	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2393	+			523			Extracellular (Potential).|Cadherin 5.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1567G>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399820	0.83120	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	D	0.91407	-2.84	4.51	4.51	0.55191	Cadherin (5);Cadherin-like (1);	0.000000	0.44097	D	0.000491	D	0.97071	0.9043	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98556	1.0639	10	0.87932	D	0	.	16.1677	0.81782	0.0:0.0:1.0:0.0	.	523;523	Q9P2E7;Q96SF0	PCD10_HUMAN;.	S	523	ENSP00000264360:G523S	ENSP00000264360:G523S	G	+	1	0	PCDH10	134292312	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.616000	0.98359	2.329000	0.79093	0.655000	0.94253	GGC		0.602	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		17	68	0	0	0	0	17	68				
FSTL5	56884	broad.mit.edu	37	4	163032465	163032465	+	Silent	SNP	A	A	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr4:163032465A>G	ENST00000306100.5	-	2	520	c.84T>C	c.(82-84)taT>taC	p.Y28Y	FSTL5_ENST00000379164.4_Silent_p.Y28Y|FSTL5_ENST00000536695.1_Silent_p.Y28Y|FSTL5_ENST00000427802.2_Silent_p.Y28Y	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	28						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATTTAAGGCCATATCCTCCTT	0.408																																						uc003iqh.2		NA																	0				ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(82-84)TAT>TAC		follistatin-like 5 isoform a							177.0	169.0	172.0					4																	163032465		2203	4300	6503	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:163032465A>G	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.84T>C	4.37:g.163032465A>G						FSTL5_uc003iqi.2_Silent_p.Y28Y|FSTL5_uc010iqv.2_Silent_p.Y28Y	p.Y28Y	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	2	520	-	all_hematologic(180;0.24)		28					E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.84T>C	CCDS3802.1																																																																																				0.408	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		14	116	0	0	0	0	14	116				
FBN2	2201	broad.mit.edu	37	5	127595501	127595501	+	Silent	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr5:127595501C>T	ENST00000508053.1	-	71	9359	c.8385G>A	c.(8383-8385)gaG>gaA	p.E2795E	FBN2_ENST00000262464.4_Silent_p.E2795E			P35556	FBN2_HUMAN	fibrillin 2	2795					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGTCGACACTCTCTAGGCTGA	0.537																																						uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(8383-8385)GAG>GAA		fibrillin 2 precursor							102.0	98.0	100.0					5																	127595501		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127595501C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.8385G>A	5.37:g.127595501C>T							p.E2795E	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	65	8824	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2795					B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.8385G>A	CCDS34222.1																																																																																				0.537	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		11	68	0	0	0	0	11	68				
PCDHA10	56139	broad.mit.edu	37	5	140237196	140237196	+	Silent	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr5:140237196G>A	ENST00000307360.5	+	1	1563	c.1563G>A	c.(1561-1563)ccG>ccA	p.P521P	PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.P521P|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	521	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCAGCCGCTGGACCACG	0.677																																						uc003lhx.2		NA																	0				ovary(2)|skin(2)|breast(1)	5						c.(1561-1563)CCG>CCA		protocadherin alpha 10 isoform 1 precursor							65.0	73.0	70.0					5																	140237196		2195	4266	6461	SO:0001819	synonymous_variant	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140237196G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1563G>A	5.37:g.140237196G>A						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_Silent_p.P521P|PCDHA10_uc011dad.1_Silent_p.P521P	p.P521P	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1563	+			521			Cadherin 5.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.1563G>A	CCDS54921.1																																																																																				0.677	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		9	82	0	0	0	0	9	82				
PCDHGC3	5098	broad.mit.edu	37	5	140856119	140856119	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr5:140856119G>A	ENST00000308177.3	+	1	540	c.436G>A	c.(436-438)Gag>Aag	p.E146K	PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	146	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGATTAGCGAGGCCGTGGC	0.547																																						uc003lkv.1		NA																	0				ovary(1)|skin(1)	2						c.(436-438)GAG>AAG		protocadherin gamma subfamily C, 3 isoform 1							62.0	65.0	64.0					5																	140856119		2203	4300	6503	SO:0001583	missense	5098				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140856119G>A	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.436G>A	5.37:g.140856119G>A	ENSP00000312070:p.Glu146Lys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lku.1_Missense_Mutation_p.E146K|PCDHGC3_uc003lkw.1_Intron	p.E146K	NM_002588	NP_002579	Q9UN70	PCDGK_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	551	+			146			Cadherin 2.|Extracellular (Potential).		O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.436G>A	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863942	0.91511	.	.	ENSG00000240184	ENST00000308177	T	0.76316	-1.01	5.27	5.27	0.74061	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.94142	0.8121	H	0.99740	4.74	0.44469	D	0.997401	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96673	0.9498	9	0.87932	D	0	.	19.0821	0.93186	0.0:0.0:1.0:0.0	.	146;146	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	K	146	ENSP00000312070:E146K	ENSP00000312070:E146K	E	+	1	0	PCDHGC3	140836303	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.652000	0.98499	2.722000	0.93159	0.655000	0.94253	GAG		0.547	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		7	44	0	0	0	0	7	44				
CDHR2	54825	broad.mit.edu	37	5	176011455	176011455	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr5:176011455G>A	ENST00000510636.1	+	19	2447	c.2173G>A	c.(2173-2175)Gaa>Aaa	p.E725K	CDHR2_ENST00000506348.1_Missense_Mutation_p.E725K|CDHR2_ENST00000261944.5_Missense_Mutation_p.E725K	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	725	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGACCAGACGGAAGCCAACAA	0.637																																						uc003mem.1		NA																	0				ovary(2)	2						c.(2173-2175)GAA>AAA		protocadherin LKC precursor							103.0	103.0	103.0					5																	176011455		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176011455G>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2173G>A	5.37:g.176011455G>A	ENSP00000424565:p.Glu725Lys					CDHR2_uc003men.1_Missense_Mutation_p.E725K	p.E725K	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN			19	2239	+			725			Cadherin 7.|Extracellular (Potential).		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.2173G>A	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536995	0.65085	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.38077	1.16;1.16;1.16	5.12	4.25	0.50352	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.45013	0.1321	M	0.69358	2.11	0.44652	D	0.997634	P	0.48998	0.918	P	0.49953	0.627	T	0.35201	-0.9798	9	0.23302	T	0.38	-7.7756	13.6381	0.62233	0.0752:0.0:0.9248:0.0	.	725	Q9BYE9	CDHR2_HUMAN	K	725	ENSP00000424565:E725K;ENSP00000261944:E725K;ENSP00000421078:E725K	ENSP00000261944:E725K	E	+	1	0	CDHR2	175944061	1.000000	0.71417	0.753000	0.31225	0.178000	0.23041	4.826000	0.62715	1.284000	0.44531	0.549000	0.68633	GAA		0.637	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		10	78	0	0	0	0	10	78				
F12	2161	broad.mit.edu	37	5	176829658	176829658	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr5:176829658G>A	ENST00000253496.3	-	13	1621	c.1573C>T	c.(1573-1575)Ccg>Tcg	p.P525S	F12_ENST00000514943.1_5'UTR|PFN3_ENST00000358571.2_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	525	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	GAGAGGAACGGTACCTGCGCC	0.662									Hereditary Angioedema																													uc003mgo.3		NA																	0					0						c.(1573-1575)CCG>TCG		coagulation factor XII precursor							47.0	43.0	45.0					5																	176829658		2203	4300	6503	SO:0001583	missense	2161	Hereditary_Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176829658G>A	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.1573C>T	5.37:g.176829658G>A	ENSP00000253496:p.Pro525Ser					PFN3_uc003mgl.2_5'Flank|F12_uc011dfy.1_Silent_p.Y55Y|F12_uc003mgn.3_Silent_p.Y55Y|F12_uc010jkl.2_RNA	p.P525S	NM_000505	NP_000496	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1622	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	525			Peptidase S1.		P78339	Missense_Mutation	SNP	ENST00000253496.3	37	c.1573C>T	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480551	0.84747	.	.	ENSG00000131187	ENST00000253496	D	0.89343	-2.5	5.65	5.65	0.86999	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.43110	D	0.000602	D	0.93288	0.7861	L	0.53249	1.67	0.47621	D	0.999475	D	0.89917	1.0	D	0.97110	1.0	D	0.93431	0.6785	10	0.66056	D	0.02	.	18.4976	0.90870	0.0:0.0:1.0:0.0	.	525	P00748	FA12_HUMAN	S	525	ENSP00000253496:P525S	ENSP00000253496:P525S	P	-	1	0	F12	176762264	0.945000	0.32115	0.987000	0.45799	0.851000	0.48451	2.493000	0.45320	2.667000	0.90743	0.561000	0.74099	CCG		0.662	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			7	23	0	0	0	0	7	23				
PHYKPL	85007	broad.mit.edu	37	5	177649532	177649532	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr5:177649532C>T	ENST00000308158.5	-	8	985	c.751G>A	c.(751-753)Ggc>Agc	p.G251S	PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	251						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	CGGCCAAAGCCAACCTGGATC	0.582																																						uc003miz.2		NA																	0				pancreas(1)	1						c.(751-753)GGC>AGC		alanine-glyoxylate aminotransferase 2-like 2	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						83.0	89.0	87.0					5																	177649532		2203	4300	6503	SO:0001583	missense	85007					mitochondrion	pyridoxal phosphate binding|transaminase activity	g.chr5:177649532C>T	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.751G>A	5.37:g.177649532C>T	ENSP00000310978:p.Gly251Ser					AGXT2L2_uc003miy.2_Intron|AGXT2L2_uc003mjc.2_Missense_Mutation_p.G210S|AGXT2L2_uc003mja.2_RNA|AGXT2L2_uc003mjb.2_Intron|AGXT2L2_uc003mjd.1_Missense_Mutation_p.G109S	p.G251S	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	8	1003	-	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	251					A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	ENST00000308158.5	37	c.751G>A	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	C	35	5.540605	0.96474	.	.	ENSG00000175309	ENST00000308158	D	0.98633	-5.04	5.34	5.34	0.76211	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.100360	0.64402	D	0.000002	D	0.99521	0.9829	H	0.98370	4.215	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.992	D	0.97974	1.0345	10	0.87932	D	0	-11.1554	16.9191	0.86159	0.0:1.0:0.0:0.0	.	251;251	A8K7P6;Q8IUZ5	.;AT2L2_HUMAN	S	251	ENSP00000310978:G251S	ENSP00000310978:G251S	G	-	1	0	AGXT2L2	177582138	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.681000	0.84073	2.680000	0.91292	0.563000	0.77884	GGC		0.582	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		12	45	0	0	0	0	12	45				
GSTA1	2938	broad.mit.edu	37	6	52662432	52662432	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr6:52662432C>T	ENST00000334575.5	-	3	246	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	31	GST N-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	AATTTCTCTTCAAACTGGAAG	0.368																																						uc003paz.2		NA																	0				ovary(1)	1						c.(91-93)GAA>AAA		glutathione S-transferase alpha 1	Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)						86.0	83.0	84.0					6																	52662432		2201	4299	6500	SO:0001583	missense	2938				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52662432C>T		CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4626	protein-coding gene	gene with protein product		138359	"""glutathione S-transferase A1"""			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.91G>A	6.37:g.52662432C>T	ENSP00000335620:p.Glu31Lys						p.E31K	NM_145740	NP_665683	P08263	GSTA1_HUMAN			3	203	-	Lung NSC(77;0.118)		31			GST N-terminal.		Q14750|Q5GHF8|Q5SZC1	Missense_Mutation	SNP	ENST00000334575.5	37	c.91G>A	CCDS4945.1	.	.	.	.	.	.	.	.	.	.	c	15.65	2.895527	0.52121	.	.	ENSG00000243955	ENST00000334575	T	0.10477	2.87	2.62	2.62	0.31277	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.064020	0.64402	D	0.000005	T	0.22085	0.0532	M	0.90759	3.145	0.48288	D	0.999622	D	0.55800	0.973	P	0.57776	0.827	T	0.11518	-1.0584	10	0.87932	D	0	.	11.1978	0.48724	0.0:1.0:0.0:0.0	.	31	P08263	GSTA1_HUMAN	K	31	ENSP00000335620:E31K	ENSP00000335620:E31K	E	-	1	0	GSTA1	52770391	1.000000	0.71417	0.992000	0.48379	0.076000	0.17211	4.200000	0.58433	1.169000	0.42739	0.205000	0.17691	GAA		0.368	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1			6	43	0	0	0	0	6	43				
LAMB4	22798	broad.mit.edu	37	7	107752371	107752371	+	Silent	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr7:107752371G>A	ENST00000388781.3	-	4	296	c.213C>T	c.(211-213)atC>atT	p.I71I	LAMB4_ENST00000205386.4_Silent_p.I71I|LAMB4_ENST00000388780.3_Silent_p.I71I|LAMB4_ENST00000418464.1_Silent_p.I71I|LAMB4_ENST00000414450.2_Silent_p.I71I	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	71	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TAGAGTCACAGATGAAGCATT	0.348																																						uc010ljo.1		NA																	0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(211-213)ATC>ATT		laminin, beta 4 precursor							164.0	157.0	159.0					7																	107752371		2203	4300	6503	SO:0001819	synonymous_variant	22798				cell adhesion	basement membrane		g.chr7:107752371G>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.213C>T	7.37:g.107752371G>A						LAMB4_uc003vey.2_Silent_p.I71I	p.I71I	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			4	297	-			71			Laminin N-terminal.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	c.213C>T	CCDS34732.1																																																																																				0.348	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		13	86	0	0	0	0	13	86				
THAP5	168451	broad.mit.edu	37	7	108204640	108204640	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr7:108204640T>A	ENST00000415914.3	-	3	1336	c.1183A>T	c.(1183-1185)Ata>Tta	p.I395L	THAP5_ENST00000493722.1_5'Flank|THAP5_ENST00000313516.5_Missense_Mutation_p.I353L	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	395					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						TTATTCTATATCATAGTGACT	0.328																																						uc003vfm.2		NA																	0					0						c.(1183-1185)ATA>TTA		THAP domain containing 5 isoform 1							43.0	46.0	45.0					7																	108204640		2201	4295	6496	SO:0001583	missense	168451				cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding	g.chr7:108204640T>A	AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"""THAP (C2CH-type zinc finger) domain containing"""	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.1183A>T	7.37:g.108204640T>A	ENSP00000400500:p.Ile395Leu					THAP5_uc003vfl.2_Missense_Mutation_p.I353L	p.I395L	NM_001130475	NP_001123947	Q7Z6K1	THAP5_HUMAN			3	1337	-			395						Missense_Mutation	SNP	ENST00000415914.3	37	c.1183A>T	CCDS47687.1	.	.	.	.	.	.	.	.	.	.	T	9.760	1.169870	0.21621	.	.	ENSG00000177683	ENST00000415914;ENST00000313516	D;D	0.97906	-4.6;-3.12	4.92	-0.886	0.10590	.	1.107890	0.07141	N	0.847380	D	0.91412	0.7290	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.81302	-0.0994	9	.	.	.	.	1.8278	0.03124	0.2648:0.0737:0.2749:0.3866	.	395	Q7Z6K1	THAP5_HUMAN	L	395;353	ENSP00000400500:I395L;ENSP00000322440:I353L	.	I	-	1	0	THAP5	107991876	0.902000	0.30710	0.654000	0.29608	0.497000	0.33675	-0.112000	0.10791	-0.318000	0.08665	-1.437000	0.01076	ATA		0.328	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337777.2	NM_182529		14	22	0	0	0	0	14	22				
PKHD1L1	93035	broad.mit.edu	37	8	110448632	110448632	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr8:110448632G>T	ENST00000378402.5	+	30	3675	c.3571G>T	c.(3571-3573)Gaa>Taa	p.E1191*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1191	IPT/TIG 5.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTTGGAAATGAAACCTGCAA	0.358										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(3571-3573)GAA>TAA		fibrocystin L precursor							104.0	106.0	106.0					8																	110448632		1847	4103	5950	SO:0001587	stop_gained	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110448632G>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3571G>T	8.37:g.110448632G>T	ENSP00000367655:p.Glu1191*	HNSCC(38;0.096)					p.E1191*	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		30	3675	+			1191			Extracellular (Potential).|IPT/TIG 5.		Q567P2|Q9UF27	Nonsense_Mutation	SNP	ENST00000378402.5	37	c.3571G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	42	9.693097	0.99240	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.44	3.39	0.38822	.	0.486110	0.21198	N	0.078504	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	5.1357	0.14934	0.2898:0.0:0.7102:0.0	.	.	.	.	X	1191	.	ENSP00000367655:E1191X	E	+	1	0	PKHD1L1	110517808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.935000	0.40173	1.292000	0.44672	0.655000	0.94253	GAA		0.358	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		22	36	1	0	7.42e-09	1.54e-08	22	36				
AGO2	27161	broad.mit.edu	37	8	141566084	141566084	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr8:141566084C>T	ENST00000220592.5	-	10	1292	c.1180G>A	c.(1180-1182)Gtc>Atc	p.V394I	AGO2_ENST00000519980.1_Missense_Mutation_p.V394I	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	394					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										AATTCACGGACGTATGGATCT	0.562																																						uc003yvn.2		NA																	0					0						c.(1180-1182)GTC>ATC		argonaute 2 isoform 1							114.0	104.0	107.0					8																	141566084		2203	4300	6503	SO:0001583	missense	27161				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity	g.chr8:141566084C>T	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1180G>A	8.37:g.141566084C>T	ENSP00000220592:p.Val394Ile					EIF2C2_uc010men.2_Missense_Mutation_p.V317I|EIF2C2_uc010meo.2_Missense_Mutation_p.V394I	p.V394I	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.158)		10	1220	-	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	394					Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	c.1180G>A	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802700	0.50315	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.04917	3.53;3.53	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.09291	0.0229	L	0.47190	1.495	0.80722	D	1	B;B	0.14438	0.01;0.003	B;B	0.15484	0.013;0.004	T	0.17837	-1.0356	10	0.32370	T	0.25	-8.3952	19.3857	0.94555	0.0:1.0:0.0:0.0	.	394;394	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	I	394	ENSP00000220592:V394I;ENSP00000430176:V394I	ENSP00000220592:V394I	V	-	1	0	EIF2C2	141635266	0.999000	0.42202	0.038000	0.18304	0.803000	0.45373	3.917000	0.56424	2.665000	0.90641	0.655000	0.94253	GTC		0.562	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			10	80	0	0	0	0	10	80				
CCDC171	203238	broad.mit.edu	37	9	15920346	15920346	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr9:15920346C>T	ENST00000380701.3	+	25	4007	c.3679C>T	c.(3679-3681)Cat>Tat	p.H1227Y	CCDC171_ENST00000486641.2_3'UTR	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1227																	AATGACATCTCATCGAAGTCA	0.343																																						uc003zmd.2		NA																	0					0						c.(3679-3681)CAT>TAT		hypothetical protein LOC203238							123.0	105.0	111.0					9																	15920346		2203	4299	6502	SO:0001583	missense	203238							g.chr9:15920346C>T	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3679C>T	9.37:g.15920346C>T	ENSP00000370077:p.His1227Tyr					C9orf93_uc003zme.2_Missense_Mutation_p.H1142Y|C9orf93_uc011lmu.1_Missense_Mutation_p.H1235Y	p.H1227Y	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN		GBM - Glioblastoma multiforme(50;4.84e-07)	25	3994	+			1227			Potential.		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	ENST00000380701.3	37	c.3679C>T	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627979	0.28978	.	.	ENSG00000164989	ENST00000380701;ENST00000359391	T	0.15256	2.44	5.57	4.67	0.58626	.	0.061995	0.64402	D	0.000014	T	0.08846	0.0219	N	0.11560	0.145	0.80722	D	1	B;B	0.28082	0.2;0.089	B;B	0.21360	0.034;0.023	T	0.27640	-1.0068	10	0.27082	T	0.32	-3.9308	12.1663	0.54131	0.0:0.9213:0.0:0.0787	.	1235;1227	B7ZM22;Q6TFL3	.;CI093_HUMAN	Y	1227;81	ENSP00000370077:H1227Y	ENSP00000352352:H81Y	H	+	1	0	C9orf93	15910346	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.342000	0.43992	2.626000	0.88956	0.557000	0.71058	CAT		0.343	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		11	30	0	0	0	0	11	30				
PRUNE2	158471	broad.mit.edu	37	9	79321541	79321541	+	Silent	SNP	A	A	G			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr9:79321541A>G	ENST00000376718.3	-	8	5772	c.5649T>C	c.(5647-5649)taT>taC	p.Y1883Y	PRUNE2_ENST00000428286.1_Silent_p.Y1524Y	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1883					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						AAGGATTAGTATAGTGTGTTT	0.473																																						uc010mpk.2		NA																	0					0						c.(5647-5649)TAT>TAC		prune homolog 2							77.0	66.0	70.0					9																	79321541		1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79321541A>G	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.5649T>C	9.37:g.79321541A>G						PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	p.Y1883Y	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	5773	-			1883					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.5649T>C	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.515699	0.00975	.	.	ENSG00000106772	ENST00000426088	T	0.41758	0.99	6.03	-4.64	0.03349	.	0.910916	0.09469	N	0.797862	T	0.31389	0.0795	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29397	-1.0013	7	0.15066	T	0.55	-0.2841	16.2013	0.82084	0.2991:0.0:0.7009:0.0	.	.	.	.	H	1205	ENSP00000389706:Y1205H	ENSP00000389706:Y1205H	Y	-	1	0	PRUNE2	78511361	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-0.018000	0.12568	-0.910000	0.03847	0.454000	0.30748	TAC		0.473	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		17	14	0	0	0	0	17	14				
TLE4	7091	broad.mit.edu	37	9	82334979	82334979	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr9:82334979C>T	ENST00000376552.2	+	16	2627	c.1609C>T	c.(1609-1611)Cgt>Tgt	p.R537C	TLE4_ENST00000376534.4_Missense_Mutation_p.R174C|TLE4_ENST00000376537.4_Missense_Mutation_p.R569C|TLE4_ENST00000265284.6_Missense_Mutation_p.R512C|TLE4_ENST00000376520.4_Missense_Mutation_p.R569C|TLE4_ENST00000376544.3_Missense_Mutation_p.R468C	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	537					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TAACTACATCCGTTCCTGCAG	0.463																																						uc004ald.2		NA																	0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1684-1686)CGT>TGT		transducin-like enhancer protein 4							77.0	75.0	76.0					9																	82334979		2202	4300	6502	SO:0001583	missense	7091							g.chr9:82334979C>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1609C>T	9.37:g.82334979C>T	ENSP00000365735:p.Arg537Cys					TLE4_uc004alc.2_Missense_Mutation_p.R537C|TLE4_uc010mpr.2_Missense_Mutation_p.R416C|TLE4_uc004ale.2_Missense_Mutation_p.R174C|TLE4_uc011lsq.1_Missense_Mutation_p.R505C|TLE4_uc010mps.2_Missense_Mutation_p.R461C|TLE4_uc004alf.2_Missense_Mutation_p.R476C	p.R562C	NM_007005	NP_008936	O60756	BCE1_HUMAN			17	2533	+			Error:Variant_position_missing_in_O60756_after_alignment					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.1684C>T	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.872213	0.91587	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284	T;T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7;2.7	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.51432	0.1674	M	0.93898	3.47	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.999	T	0.62918	-0.6752	10	0.66056	D	0.02	-16.0088	19.8557	0.96758	0.0:1.0:0.0:0.0	.	512;468;569;537	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	C	537;468;569;569;174;512	ENSP00000365735:R537C;ENSP00000365727:R468C;ENSP00000365703:R569C;ENSP00000365720:R569C;ENSP00000365717:R174C;ENSP00000265284:R512C	ENSP00000265284:R512C	R	+	1	0	TLE4	81524799	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.688000	0.91661	0.591000	0.81541	CGT		0.463	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		8	42	0	0	0	0	8	42				
CNTRL	11064	broad.mit.edu	37	9	123852644	123852644	+	Silent	SNP	G	G	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr9:123852644G>C	ENST00000373855.1	+	4	569	c.309G>C	c.(307-309)ctG>ctC	p.L103L	CNTRL_ENST00000373865.2_Silent_p.L103L|CNTRL_ENST00000238341.5_Silent_p.L103L			Q7Z7A1	CNTRL_HUMAN	centriolin	103					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TAAAATCTCTGAACCTTTCAC	0.333																																						uc004bkx.1		NA																	0					0						c.(307-309)CTG>CTC		centrosomal protein 110kDa							84.0	90.0	88.0					9																	123852644		2202	4299	6501	SO:0001819	synonymous_variant	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123852644G>C	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.309G>C	9.37:g.123852644G>C						CEP110_uc004bkw.2_Silent_p.L103L	p.L103L	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			2	340	+			103					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	ENST00000373855.1	37	c.309G>C	CCDS35118.1																																																																																				0.333	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		10	98	0	0	0	0	10	98				
FGD1	2245	broad.mit.edu	37	X	54497839	54497839	+	Missense_Mutation	SNP	G	G	A	rs199677604		TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chrX:54497839G>A	ENST00000375135.3	-	2	1122	c.389C>T	c.(388-390)cCc>cTc	p.P130L		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	130	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AAGCCGCTGGGGACCTTCTGG	0.607													G|||	1	0.000264901	0.0	0.0	3775	,	,		13125	0.001		0.0	False		,,,				2504	0.0					uc004dtg.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(388-390)CCC>CTC		faciogenital dysplasia protein							58.0	58.0	58.0					X																	54497839		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54497839G>A	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.389C>T	X.37:g.54497839G>A	ENSP00000364277:p.Pro130Leu					FGD1_uc011moi.1_5'Flank	p.P130L	NM_004463	NP_004454	P98174	FGD1_HUMAN			2	1123	-			130			Pro-rich.		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.389C>T	CCDS14359.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	24.5	4.536503	0.85812	.	.	ENSG00000102302	ENST00000375135	T	0.71817	-0.6	4.88	4.88	0.63580	.	0.266144	0.27358	N	0.019727	T	0.74543	0.3730	N	0.19112	0.55	0.54753	D	0.999985	D	0.89917	1.0	D	0.80764	0.994	T	0.79291	-0.1864	10	0.87932	D	0	-18.1531	16.1819	0.81915	0.0:0.0:1.0:0.0	.	130	P98174	FGD1_HUMAN	L	130	ENSP00000364277:P130L	ENSP00000364277:P130L	P	-	2	0	FGD1	54514564	1.000000	0.71417	0.996000	0.52242	0.865000	0.49528	4.308000	0.59129	2.159000	0.67721	0.436000	0.28706	CCC		0.607	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		4	14	0	0	0	0	4	14				
GPR174	84636	broad.mit.edu	37	X	78426986	78426986	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chrX:78426986C>A	ENST00000276077.1	+	1	518	c.482C>A	c.(481-483)aCc>aAc	p.T161N		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						AGTGATGATACCTCTGGCAAT	0.478										HNSCC(63;0.18)																												uc004edg.1		NA																	0				lung(1)|central_nervous_system(1)	2						c.(481-483)ACC>AAC		putative purinergic receptor FKSG79							151.0	126.0	134.0					X																	78426986		2203	4300	6503	SO:0001583	missense	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78426986C>A	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.482C>A	X.37:g.78426986C>A	ENSP00000276077:p.Thr161Asn	HNSCC(63;0.18)					p.T161N	NM_032553	NP_115942	Q9BXC1	GP174_HUMAN			1	518	+			161			Extracellular (Potential).		Q2M3F7	Missense_Mutation	SNP	ENST00000276077.1	37	c.482C>A	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.115214	0.00349	.	.	ENSG00000147138	ENST00000276077	T	0.33438	1.41	4.9	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.472440	0.22355	N	0.061144	T	0.14787	0.0357	N	0.12887	0.27	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.24764	-1.0151	10	0.17832	T	0.49	.	8.2235	0.31556	0.1918:0.7077:0.0:0.1005	.	161	Q9BXC1	GP174_HUMAN	N	161	ENSP00000276077:T161N	ENSP00000276077:T161N	T	+	2	0	GPR174	78313642	.	.	0.050000	0.19076	0.092000	0.18411	.	.	0.851000	0.35264	-0.369000	0.07265	ACC		0.478	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		18	29	1	0	9.17e-09	1.9e-08	18	29				
PABPC5	140886	broad.mit.edu	37	X	90690579	90690579	+	Start_Codon_SNP	SNP	G	G	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chrX:90690579G>A	ENST00000312600.3	+	2	217	c.3G>A	c.(1-3)atG>atA	p.M1I	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	1						mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TCAGAGAGATGGGGAGCGGGG	0.512																																						uc004efg.2		NA																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(1-3)ATG>ATA		poly(A) binding protein, cytoplasmic 5							61.0	49.0	53.0					X																	90690579		2203	4300	6503	SO:0001582	initiator_codon_variant	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90690579G>A	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.3G>A	X.37:g.90690579G>A	ENSP00000308012:p.Met1Ile					PABPC5_uc004eff.1_Intron	p.M1I	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN			2	443	+			1					A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.3G>A	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262939	0.39995	.	.	ENSG00000174740	ENST00000312600	T	0.19394	2.15	4.59	4.59	0.56863	.	0.000000	0.51477	D	0.000090	T	0.19446	0.0467	.	.	.	0.80722	D	1	B	0.30211	0.273	B	0.29785	0.107	T	0.03807	-1.1002	9	0.72032	D	0.01	.	11.6534	0.51304	0.0:0.0:1.0:0.0	.	1	Q96DU9	PABP5_HUMAN	I	1	ENSP00000308012:M1I	ENSP00000308012:M1I	M	+	3	0	PABPC5	90577235	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.791000	0.47829	2.525000	0.85131	0.600000	0.82982	ATG		0.512	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832	Missense_Mutation	10	6	0	0	0	0	10	6				
THOC2	57187	broad.mit.edu	37	X	122767908	122767908	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chrX:122767908T>C	ENST00000245838.8	-	20	2063	c.2032A>G	c.(2032-2034)Ata>Gta	p.I678V	THOC2_ENST00000491737.1_Missense_Mutation_p.I563V|THOC2_ENST00000355725.4_Missense_Mutation_p.I678V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	678					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TCTTTCAATATAAGCAGGTCA	0.323																																						uc004etu.2		NA																	0				ovary(3)	3						c.(2032-2034)ATA>GTA		THO complex 2							108.0	95.0	99.0					X																	122767908		1805	4064	5869	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122767908T>C	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.2032A>G	X.37:g.122767908T>C	ENSP00000245838:p.Ile678Val					THOC2_uc011muh.1_Missense_Mutation_p.I603V	p.I678V	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			20	2064	-			678					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.2032A>G	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.623685	0.46840	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000001	T	0.42404	0.1201	N	0.25201	0.72	0.80722	D	1	B;B	0.21225	0.009;0.053	B;B	0.20184	0.017;0.028	T	0.28902	-1.0029	9	0.13853	T	0.58	-16.8579	14.3032	0.66368	0.0:0.0:0.0:1.0	.	603;678	B4DKZ6;Q8NI27	.;THOC2_HUMAN	V	678;678;563;603	.	ENSP00000245838:I678V	I	-	1	0	THOC2	122595589	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.997000	0.88414	1.825000	0.53177	0.441000	0.28932	ATA		0.323	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			11	49	0	0	0	0	11	49				
GPC3	2719	broad.mit.edu	37	X	132888182	132888182	+	Missense_Mutation	SNP	C	C	T	rs148021273	byFrequency	TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chrX:132888182C>T	ENST00000370818.3	-	3	804	c.359G>A	c.(358-360)cGc>cAc	p.R120H	GPC3_ENST00000543339.1_Missense_Mutation_p.R66H|GPC3_ENST00000394299.2_Missense_Mutation_p.R120H	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	120					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CTTGGCATGGCGAACAACAAT	0.363			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				C|||	2	0.000529801	0.0008	0.0	3775	,	,		11195	0.001		0.0	False		,,,				2504	0.0					uc004exe.1		NA	yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	T|D|Mis|N|F|S	glypican 3			O		Wilms tumour			0				lung(2)|prostate(1)|breast(1)|skin(1)	5						c.(358-360)CGC>CAC		glypican 3 isoform 2 precursor		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	7,3828		0,5,2,1627,569	262.0	209.0	227.0		359,311,197,359	5.3	1.0	X	dbSNP_134	227	0,6728		0,0,0,2428,1872	yes	missense,missense,missense,missense	GPC3	NM_001164617.1,NM_001164618.1,NM_001164619.1,NM_004484.3	29,29,29,29	0,5,2,4055,2441	TT,TC,T,CC,C		0.0,0.1825,0.0663	probably-damaging,probably-damaging,probably-damaging,probably-damaging	120/604,104/565,66/527,120/581	132888182	7,10556	2203	4300	6503	SO:0001583	missense	2719	Simpson-Golabi-Behmel_syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132888182C>T	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.359G>A	X.37:g.132888182C>T	ENSP00000359854:p.Arg120His					GPC3_uc004exd.1_5'UTR|GPC3_uc010nrn.1_Missense_Mutation_p.R120H|GPC3_uc011mvh.1_Missense_Mutation_p.R104H|GPC3_uc010nro.1_Missense_Mutation_p.R66H|GPC3_uc010nrp.1_5'UTR	p.R120H	NM_004484	NP_004475	P51654	GPC3_HUMAN			3	549	-	Acute lymphoblastic leukemia(192;0.000127)		120					C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	c.359G>A	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497455	0.64186	0.001825	0.0	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	T;T;T	0.51574	0.7;0.7;0.7	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.66577	0.2803	M	0.64404	1.975	0.42707	D	0.993639	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75020	0.985;0.983;0.985;0.985	T	0.70443	-0.4870	10	0.72032	D	0.01	.	16.8526	0.85998	0.0:1.0:0.0:0.0	.	104;66;120;120	B4DTD8;G3V1R0;C9JLE3;P51654	.;.;.;GPC3_HUMAN	H	120;120;66	ENSP00000359854:R120H;ENSP00000377836:R120H;ENSP00000444222:R66H	ENSP00000359854:R120H	R	-	2	0	GPC3	132715848	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.538000	0.60650	2.185000	0.69588	0.538000	0.68166	CGC		0.363	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		7	72	0	0	0	0	7	72				
PLAC1	10761	broad.mit.edu	37	X	133700419	133700419	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chrX:133700419T>C	ENST00000359237.4	-	3	579	c.294A>G	c.(292-294)atA>atG	p.I98M	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					AAGAGTAGTGTATCTCAGTGC	0.522																																						uc004exo.1		NA																	0				pancreas(1)	1						c.(292-294)ATA>ATG		placenta-specific 1 precursor							200.0	169.0	179.0					X																	133700419		2203	4300	6503	SO:0001583	missense	10761				placenta development	extracellular region		g.chrX:133700419T>C	AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"""cancer/testis antigen 92"""	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.294A>G	X.37:g.133700419T>C	ENSP00000352173:p.Ile98Met					PLAC1_uc004exp.1_Missense_Mutation_p.I98M	p.I98M	NM_021796	NP_068568	Q9HBJ0	PLAC1_HUMAN			3	580	-	Acute lymphoblastic leukemia(192;0.000127)		98						Missense_Mutation	SNP	ENST00000359237.4	37	c.294A>G	CCDS14642.1	.	.	.	.	.	.	.	.	.	.	T	2.949	-0.217068	0.06101	.	.	ENSG00000170965	ENST00000359237	D	0.84146	-1.81	4.54	-8.9	0.00782	.	1.137450	0.06898	N	0.805466	T	0.67420	0.2891	N	0.19112	0.55	0.09310	N	1	B	0.20671	0.047	B	0.17979	0.02	T	0.53865	-0.8378	10	0.20046	T	0.44	-0.0777	6.7474	0.23468	0.1028:0.1204:0.0982:0.6786	.	98	Q9HBJ0	PLAC1_HUMAN	M	98	ENSP00000352173:I98M	ENSP00000352173:I98M	I	-	3	3	PLAC1	133528085	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-2.322000	0.01118	-2.596000	0.00453	-0.287000	0.09952	ATA		0.522	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796		80	22	0	0	0	0	80	22				
RIPK4	54101	broad.mit.edu	37	21	43161792	43161803	+	In_Frame_Del	DEL	GTGTGCTAGACT	GTGTGCTAGACT	-	rs148559295		TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr21:43161792_43161803delGTGTGCTAGACT	ENST00000352483.2	-	9	1758_1769	c.1694_1705delAGTCTAGCACAC	c.(1693-1707)gagtctagcacacgg>ggg	p.565_569ESSTR>G	RIPK4_ENST00000544709.1_In_Frame_Del_p.454_458ESSTR>G|RIPK4_ENST00000542057.1_In_Frame_Del_p.454_458ESSTR>G|RIPK4_ENST00000332512.3_In_Frame_Del_p.517_521ESSTR>G|AP001615.9_ENST00000423276.1_RNA			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	565					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AACAGCAGCCGTGTGCTAGACTCGTCCCCGTT	0.632																																						uc002yzn.1		NA																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(1549-1563)GAGTCTAGCACACGG>GGG		ankyrin repeat domain 3																																				SO:0001651	inframe_deletion	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161792_43161803delGTGTGCTAGACT	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1694_1705delAGTCTAGCACAC	21.37:g.43161792_43161803delGTGTGCTAGACT	ENSP00000330161:p.Glu565_Arg569delinsGly						p.517_521ESSTR>G	NM_020639	NP_065690	P57078	RIPK4_HUMAN			8	1598_1609	-			517_521					Q96KH0	In_Frame_Del	DEL	ENST00000352483.2	37	c.1550_1561delAGTCTAGCACAC																																																																																					0.632	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		12	27	NA	NA	NA	NA	12	27	---	---	---	---
PEX2	5828	broad.mit.edu	37	8	77895656	77895657	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7415-01A-11D-2078-08	TCGA-CV-7415-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bb1e4188-130c-4206-8671-d7ce3eb8ee74	bdfb06d0-6d6f-4acd-8520-fade65e20d95	g.chr8:77895656_77895657insA	ENST00000419564.2	-	4	1222_1223	c.758_759insT	c.(757-759)atgfs	p.M253fs	PEX2_ENST00000522527.1_Frame_Shift_Ins_p.M253fs|PEX2_ENST00000520103.1_Frame_Shift_Ins_p.M253fs|PEX2_ENST00000357039.4_Frame_Shift_Ins_p.M253fs	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	253					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						TGGTGTGAGGCATGGTGGGCCA	0.436																																						uc003yax.2		NA																	0				ovary(1)	1						c.(757-759)ATGfs		peroxin 2																																				SO:0001589	frameshift_variant	5828				peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding	g.chr8:77895656_77895657insA	M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"""RING-type (C3HC4) zinc fingers"""	9717	protein-coding gene	gene with protein product	"""Zellweger syndrome"", ""peroxin 2"""	170993	"""peroxisomal membrane protein 3 (35kD, Zellweger syndrome)"", ""peroxisomal membrane protein 3, 35kDa"""	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.759dupT	8.37:g.77895657_77895657dupA	ENSP00000400984:p.Met253fs					PEX2_uc003yay.2_Frame_Shift_Ins_p.M253fs|PEX2_uc003yaz.2_Frame_Shift_Ins_p.M253fs	p.M253fs	NM_000318	NP_000309	P28328	PEX2_HUMAN			4	1216_1217	-			253			RING-type.		Q567S6|Q9BW41	Frame_Shift_Ins	INS	ENST00000419564.2	37	c.758_759insT	CCDS6221.1																																																																																				0.436	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379122.1	NM_000318		51	72	NA	NA	NA	NA	51	72	---	---	---	---
