#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
ATAD3B	83858	broad.mit.edu	37	1	1417558	1417558	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:1417558G>A	ENST00000308647.7	+	6	671	c.555G>A	c.(553-555)gaG>gaA	p.E185E	ATAD3B_ENST00000378736.3_3'UTR|ATAD3B_ENST00000378741.3_Silent_p.E17E	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	185						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACAAGAATGAGATGCTGCGAG	0.672																																						uc001afv.2		NaN																	0					0						c.(553-555)GAG>GAA		AAA-ATPase  TOB3							30.0	33.0	32.0					1																	1417558		2201	4296	6497	SO:0001819	synonymous_variant	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1417558G>A	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.555G>A	1.37:g.1417558G>A						ATAD3B_uc001afw.2_Silent_p.E139E|ATAD3B_uc001afx.2_Silent_p.E139E	p.E185E	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	6	656	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	185			Potential.		A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP	ENST00000308647.7	37	c.555G>A	CCDS30.1																																																																																				0.672	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2		NM_031921		4	23	0	0	0	0.009096	0	4	23		
PLCH2	9651	broad.mit.edu	37	1	2420790	2420790	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:2420790G>T	ENST00000419816.2	+	9	1654	c.1380G>T	c.(1378-1380)caG>caT	p.Q460H	PLCH2_ENST00000378486.3_Missense_Mutation_p.Q460H|PLCH2_ENST00000378488.3_Missense_Mutation_p.Q460H|PLCH2_ENST00000288766.5_Intron|RP3-395M20.2_ENST00000424657.1_RNA|PLCH2_ENST00000449969.1_Missense_Mutation_p.Q433H			O75038	PLCH2_HUMAN	phospholipase C, eta 2	460	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CCTCTCCACAGATGCTCAAGG	0.582																																						uc001aji.1		NaN																	0				central_nervous_system(3)|ovary(1)|skin(1)	5						c.(1378-1380)CAG>CAT		phospholipase C, eta 2							106.0	108.0	108.0					1																	2420790		2126	4230	6356	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2420790G>T	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.1380G>T	1.37:g.2420790G>T	ENSP00000389803:p.Gln460His					PLCH2_uc010nyz.1_Missense_Mutation_p.Q248H|PLCH2_uc009vle.1_Missense_Mutation_p.Q248H|PLCH2_uc001ajj.1_Missense_Mutation_p.Q248H|PLCH2_uc001ajk.1_Missense_Mutation_p.Q248H	p.Q460H	NM_014638	NP_055453	O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	9	1654	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	460			PI-PLC X-box.		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.1380G>T		.	.	.	.	.	.	.	.	.	.	G	9.821	1.185867	0.21870	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	T;T;T	0.52983	0.64;0.64;0.64	5.1	3.17	0.36434	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.279181	0.32068	N	0.006635	T	0.34483	0.0899	L	0.39085	1.19	0.53005	D	0.999967	B;B;B;B	0.14805	0.009;0.011;0.007;0.011	B;B;B;B	0.21151	0.02;0.033;0.005;0.033	T	0.14952	-1.0454	10	0.62326	D	0.03	.	5.5498	0.17083	0.1569:0.344:0.4991:0.0	.	307;248;433;460	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	H	433;460;460;307;248	ENSP00000397289:Q433H;ENSP00000367747:Q460H;ENSP00000367749:Q460H	ENSP00000278878:Q248H	Q	+	3	2	PLCH2	2410650	0.993000	0.37304	0.909000	0.35828	0.104000	0.19210	0.861000	0.27885	0.512000	0.28257	-0.304000	0.09214	CAG		0.582	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1		NM_014638		11	65	1	0	2.80697e-09	0.010729	2.96018e-09	11	65		
PRDM16	63976	broad.mit.edu	37	1	3331170	3331170	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:3331170G>C	ENST00000270722.5	+	10	2699	c.2650G>C	c.(2650-2652)Gag>Cag	p.E884Q	PRDM16_ENST00000441472.2_Missense_Mutation_p.E883Q|PRDM16_ENST00000511072.1_Missense_Mutation_p.E885Q|PRDM16_ENST00000378391.2_Missense_Mutation_p.E884Q|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378398.3_Missense_Mutation_p.E884Q|PRDM16_ENST00000442529.2_Missense_Mutation_p.E883Q|PRDM16_ENST00000514189.1_Missense_Mutation_p.E884Q			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	884	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AGCCCTGAAGGAGAAGTACCT	0.667			T	EVI1	"""MDS, AML"""																																	uc001akf.2		NaN		Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		0				lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(2650-2652)GAG>CAG		PR domain containing 16 isoform 1							41.0	53.0	49.0					1																	3331170		1956	4136	6092	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3331170G>C	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2650G>C	1.37:g.3331170G>C	ENSP00000270722:p.Glu884Gln					PRDM16_uc001akc.2_Missense_Mutation_p.E883Q|PRDM16_uc001akd.2_Missense_Mutation_p.E883Q|PRDM16_uc001ake.2_Missense_Mutation_p.E884Q|PRDM16_uc009vlh.2_Missense_Mutation_p.E584Q	p.E884Q	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	10	2730	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	884			Mediates interaction with SKI and regulation of TGF-beta signaling.|Interaction with CTBP1 and CTBP2 (By similarity).		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.2650G>C	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491700	0.64074	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.06371	3.36;3.36;3.37;3.35;3.36;3.36;3.38;3.32;3.31	4.94	4.94	0.65067	.	0.000000	0.51477	D	0.000097	T	0.22166	0.0534	L	0.54323	1.7	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;0.999;0.998;1.0	D;D;D;D	0.80764	0.994;0.962;0.933;0.994	T	0.00505	-1.1700	10	0.72032	D	0.01	.	18.1398	0.89636	0.0:0.0:1.0:0.0	.	884;884;883;883	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	Q	885;884;883;883;884;884;884;700;700;692	ENSP00000426975:E885Q;ENSP00000367651:E884Q;ENSP00000407968:E883Q;ENSP00000405253:E883Q;ENSP00000367643:E884Q;ENSP00000421400:E884Q;ENSP00000270722:E884Q;ENSP00000422504:E700Q;ENSP00000425796:E692Q	ENSP00000270722:E884Q	E	+	1	0	PRDM16	3321030	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.341000	0.97041	2.281000	0.76405	0.511000	0.50034	GAG		0.667	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3		NM_022114		4	27	0	0	0	0.014758	0	4	27		
PIK3CD	5293	broad.mit.edu	37	1	9775796	9775796	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:9775796C>G	ENST00000377346.4	+	4	534	c.339C>G	c.(337-339)atC>atG	p.I113M	PIK3CD_ENST00000536656.1_Missense_Mutation_p.I113M|PIK3CD_ENST00000361110.2_Missense_Mutation_p.I113M|PIK3CD_ENST00000543390.1_5'Flank	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	113					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	AGAAGCTCATCAACTCACAGA	0.677																																						uc001aqb.3		NaN																	0				lung(4)|skin(2)|central_nervous_system(1)	7						c.(337-339)ATC>ATG		catalytic phosphatidylinositol 3-kinase delta							62.0	64.0	63.0					1																	9775796		2203	4299	6502	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9775796C>G		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.339C>G	1.37:g.9775796C>G	ENSP00000366563:p.Ile113Met					PIK3CD_uc001aqa.2_Missense_Mutation_p.I113M|PIK3CD_uc010oaf.1_Missense_Mutation_p.I113M|PIK3CD_uc001aqe.3_Missense_Mutation_p.I113M	p.I113M	NM_005026	NP_005017	O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	4	547	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	113					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.339C>G	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354552	0.61293	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.43688	0.94;0.94;0.94	5.83	3.93	0.45458	.	0.148919	0.64402	D	0.000010	T	0.37128	0.0992	L	0.47716	1.5	0.80722	D	1	B;B;B	0.32101	0.132;0.356;0.132	B;B;B	0.36289	0.158;0.221;0.158	T	0.30119	-0.9989	10	0.54805	T	0.06	-27.4589	9.185	0.37165	0.0:0.7782:0.0:0.2218	.	113;113;113	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	M	113	ENSP00000446444:I113M;ENSP00000366563:I113M;ENSP00000354410:I113M	ENSP00000353766:I113M	I	+	3	3	PIK3CD	9698383	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.546000	0.36179	1.444000	0.47605	0.563000	0.77884	ATC		0.677	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1		NM_005026		17	54	0	0	0	0.014323	0	17	54		
C1orf127	148345	broad.mit.edu	37	1	11008902	11008902	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:11008902C>T	ENST00000377008.4	-	11	1236		c.e11-1		C1orf127_ENST00000377004.4_Splice_Site			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127											NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CAAGCCCCTTCTTCACCAAGA	0.547																																						uc010oao.1		NaN																	0				ovary(1)	1						c.e8-1		hypothetical protein LOC148345							26.0	31.0	29.0					1																	11008902		2186	4278	6464	SO:0001630	splice_region_variant	148345							g.chr1:11008902C>T	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.790-1G>A	1.37:g.11008902C>T						C1orf127_uc001arr.1_Splice_Site_p.K264_splice|C1orf127_uc001ars.1_Splice_Site_p.K256_splice	p.K282_splice	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)	8	849	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)						A0AVG8|A6NKM7|Q5VXJ2	Splice_Site	SNP	ENST00000377008.4	37	c.844_splice		.	.	.	.	.	.	.	.	.	.	C	9.432	1.085738	0.20390	.	.	ENSG00000175262	ENST00000418570;ENST00000377004;ENST00000377008;ENST00000520253	.	.	.	4.89	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.40389	D	0.979528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3561	0.38168	0.0:0.9006:0.0:0.0994	.	.	.	.	.	-1	.	.	.	-	.	.	C1orf127	10931489	0.002000	0.14202	0.013000	0.15412	0.023000	0.10783	0.259000	0.18405	1.197000	0.43143	0.491000	0.48974	.		0.547	C1orf127-202	KNOWN	basic	protein_coding	protein_coding			NM_173507	Intron	14	34	0	0	0	0.003163	0	14	34		
PRDM2	7799	broad.mit.edu	37	1	14104976	14104976	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:14104976A>T	ENST00000235372.7	+	8	1542	c.686A>T	c.(685-687)gAg>gTg	p.E229V	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.E229V|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.E28V|PRDM2_ENST00000413440.1_Missense_Mutation_p.E28V	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACCCTCCAGGAGGTGGCCAGT	0.582																																						uc001avi.2		NaN																	0				ovary(1)	1						c.(685-687)GAG>GTG		retinoblastoma protein-binding zinc finger							71.0	80.0	77.0					1																	14104976		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14104976A>T	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.686A>T	1.37:g.14104976A>T	ENSP00000235372:p.Glu229Val					PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.E229V|PRDM2_uc001avj.2_Intron|PRDM2_uc009vod.1_Missense_Mutation_p.E28V|PRDM2_uc001avk.2_Missense_Mutation_p.E28V|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	p.E229V	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	1542	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	229					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.686A>T	CCDS150.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.668497	0.67814	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137;ENST00000407521	T;T;T;T	0.01838	4.72;4.61;4.65;4.65	5.56	5.56	0.83823	.	0.355674	0.30850	N	0.008755	T	0.10766	0.0263	M	0.65498	2.005	0.54753	D	0.999987	D;P;D;D	0.76494	0.999;0.943;0.999;0.999	D;P;D;D	0.68943	0.915;0.5;0.915;0.961	T	0.00482	-1.1713	10	0.62326	D	0.03	.	14.6828	0.69031	1.0:0.0:0.0:0.0	.	229;87;229;229	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	V	229;229;229;28;28;28	ENSP00000235372:E229V;ENSP00000312352:E229V;ENSP00000411103:E28V;ENSP00000341621:E28V	ENSP00000235372:E229V	E	+	2	0	PRDM2	13977563	1.000000	0.71417	0.128000	0.21923	0.044000	0.14063	5.828000	0.69307	2.144000	0.66660	0.444000	0.29173	GAG		0.582	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2		NM_012231		13	100	0	0	0	0.001855	0	13	100		
PADI3	51702	broad.mit.edu	37	1	17586130	17586130	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:17586130C>T	ENST00000375460.3	+	2	190	c.150C>T	c.(148-150)atC>atT	p.I50I		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	50					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCGTGGACATCTACATCTCTC	0.592																																						uc001bai.2		NaN																	0				ovary(1)|breast(1)	2						c.(148-150)ATC>ATT		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						86.0	86.0	86.0					1																	17586130		2203	4300	6503	SO:0001819	synonymous_variant	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17586130C>T	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.150C>T	1.37:g.17586130C>T							p.I50I	NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	2	190	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	50					Q58EY7|Q70SX5	Silent	SNP	ENST00000375460.3	37	c.150C>T	CCDS179.1																																																																																				0.592	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1				17	72	0	0	0	0.010504	0	17	72		
PADI3	51702	broad.mit.edu	37	1	17592186	17592186	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:17592186G>A	ENST00000375460.3	+	4	419	c.379G>A	c.(379-381)Gga>Aga	p.G127R		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	127					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GAACTGTGAGGGAAGGCAGGA	0.547																																						uc001bai.2		NaN																	0				ovary(1)|breast(1)	2						c.(379-381)GGA>AGA		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						177.0	155.0	162.0					1																	17592186		2203	4300	6503	SO:0001583	missense	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17592186G>A	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.379G>A	1.37:g.17592186G>A	ENSP00000364609:p.Gly127Arg						p.G127R	NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	4	419	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	127					Q58EY7|Q70SX5	Missense_Mutation	SNP	ENST00000375460.3	37	c.379G>A	CCDS179.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032784	0.54790	.	.	ENSG00000142619	ENST00000375460	T	0.46451	0.87	5.4	5.4	0.78164	Protein-arginine deiminase (PAD), central domain (2);	0.165190	0.53938	D	0.000054	T	0.69187	0.3083	M	0.87827	2.91	0.43512	D	0.995778	D	0.69078	0.997	D	0.67725	0.953	T	0.75388	-0.3335	10	0.87932	D	0	-19.8735	17.7433	0.88413	0.0:0.0:1.0:0.0	.	127	Q9ULW8	PADI3_HUMAN	R	127	ENSP00000364609:G127R	ENSP00000364609:G127R	G	+	1	0	PADI3	17464773	1.000000	0.71417	0.255000	0.24374	0.009000	0.06853	6.813000	0.75231	2.526000	0.85167	0.655000	0.94253	GGA		0.547	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1				11	120	0	0	0	0.00245	0	11	120		
KIF17	57576	broad.mit.edu	37	1	21014070	21014070	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:21014070C>G	ENST00000247986.2	-	8	2059	c.1749G>C	c.(1747-1749)caG>caC	p.Q583H	KIF17_ENST00000400463.3_Missense_Mutation_p.Q583H|KIF17_ENST00000375044.1_Missense_Mutation_p.Q483H|KIF17_ENST00000490034.1_Intron			Q9P2E2	KIF17_HUMAN	kinesin family member 17	583					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CAGCGGCCTCCTGCCCGAGGC	0.652																																						uc001bdr.3		NaN																	0				ovary(3)|skin(1)	4						c.(1747-1749)CAG>CAC		kinesin family member 17 isoform a							30.0	33.0	32.0					1																	21014070		2203	4300	6503	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21014070C>G	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1749G>C	1.37:g.21014070C>G	ENSP00000247986:p.Gln583His					KIF17_uc001bdp.3_5'Flank|KIF17_uc001bdq.3_5'Flank|KIF17_uc009vpx.2_Intron|KIF17_uc001bds.3_Missense_Mutation_p.Q583H	p.Q583H	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	8	1867	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	583					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.1749G>C	CCDS213.1	.	.	.	.	.	.	.	.	.	.	C	2.739	-0.262661	0.05754	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.71461	-0.57;-0.45;-0.45	4.75	0.412	0.16397	.	4.110590	0.01403	U	0.013693	T	0.58666	0.2138	L	0.33485	1.01	0.09310	N	1	P;B	0.36495	0.556;0.0	B;B	0.35073	0.195;0.001	T	0.47032	-0.9148	10	0.44086	T	0.13	.	3.7196	0.08450	0.1575:0.4475:0.3061:0.0889	.	583;583	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	H	483;583;583	ENSP00000364184:Q483H;ENSP00000383311:Q583H;ENSP00000247986:Q583H	ENSP00000247986:Q583H	Q	-	3	2	KIF17	20886657	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.073000	0.14640	-0.002000	0.14469	-0.479000	0.04858	CAG		0.652	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1		NM_020816		6	19	0	0	0	0.004482	0	6	19		
EPHB2	2048	broad.mit.edu	37	1	23107946	23107946	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:23107946G>A	ENST00000400191.3	+	2	112	c.94G>A	c.(94-96)Gag>Aag	p.E32K	EPHB2_ENST00000544305.1_Missense_Mutation_p.E32K|EPHB2_ENST00000374627.1_Missense_Mutation_p.E26K|EPHB2_ENST00000374632.3_Missense_Mutation_p.E32K|EPHB2_ENST00000374630.3_Missense_Mutation_p.E32K	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	32	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AGCGACTGCTGAGCTGGGCTG	0.602																																						uc009vqj.1		NaN																	0				ovary(3)|lung(1)|pancreas(1)	5						c.(94-96)GAG>AAG		ephrin receptor EphB2 isoform 1 precursor							110.0	90.0	97.0					1																	23107946		2203	4300	6503	SO:0001583	missense	2048	Hereditary_Prostate_Cancer			axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23107946G>A	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.94G>A	1.37:g.23107946G>A	ENSP00000383053:p.Glu32Lys					EPHB2_uc001bge.2_Missense_Mutation_p.E32K|EPHB2_uc001bgf.2_Missense_Mutation_p.E32K|EPHB2_uc010odu.1_Missense_Mutation_p.E32K	p.E32K	NM_017449	NP_059145	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	2	239	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	32			Extracellular (Potential).		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.94G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.334940	0.95758	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.04809	3.55;3.55;3.55;3.55;3.55	4.83	4.83	0.62350	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.29190	0.0726	M	0.90870	3.155	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.998	D;D;D;D	0.85130	0.977;0.997;0.996;0.976	T	0.23691	-1.0181	10	0.87932	D	0	.	16.6409	0.85098	0.0:0.0:1.0:0.0	.	32;32;50;32	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	K	32;32;32;32;32;26	ENSP00000444174:E32K;ENSP00000363761:E32K;ENSP00000383053:E32K;ENSP00000363763:E32K;ENSP00000363758:E26K	ENSP00000363755:E32K	E	+	1	0	EPHB2	22980533	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.555000	0.98123	2.514000	0.84764	0.491000	0.48974	GAG		0.602	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2		NM_017449		24	44	0	0	0	0.008361	0	24	44		
RPL11	6135	broad.mit.edu	37	1	24019138	24019138	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:24019138C>T	ENST00000374550.3	+	2	91	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	16					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)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GCGGGAACTTCGCATCCGCAA	0.547																																						uc001bhk.2		NaN																	0				central_nervous_system(1)	1						c.(46-48)CGC>TGC		ribosomal protein L11							112.0	112.0	112.0					1																	24019138		2203	4300	6503	SO:0001583	missense	6135				endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	g.chr1:24019138C>T	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.46C>T	1.37:g.24019138C>T	ENSP00000363676:p.Arg16Cys					RPL11_uc001bhl.2_Missense_Mutation_p.R15C|RPL11_uc001bhm.2_Missense_Mutation_p.R5C|RPL11_uc001bhn.1_Missense_Mutation_p.R5C	p.R16C	NM_000975	NP_000966	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	2	66	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	16					P25121|P39026|Q8TDH2|Q9Y674	Missense_Mutation	SNP	ENST00000374550.3	37	c.46C>T	CCDS238.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109041	0.37242	.	.	ENSG00000142676	ENST00000374550;ENST00000443624;ENST00000458455	T;T;T	0.78595	-1.19;-1.19;-1.19	5.07	3.21	0.36854	Ribosomal protein L5 domain (2);	0.000000	0.85682	D	0.000000	T	0.80188	0.4577	M	0.85299	2.745	0.80722	D	1	B;B	0.18013	0.02;0.025	B;B	0.28849	0.039;0.095	T	0.77286	-0.2644	10	0.72032	D	0.01	-0.2027	11.3314	0.49479	0.0:0.8516:0.0:0.1484	.	15;16	P62913-2;P62913	.;RL11_HUMAN	C	16;14;14	ENSP00000363676:R16C;ENSP00000390839:R14C;ENSP00000398888:R14C	ENSP00000363676:R16C	R	+	1	0	RPL11	23891725	1.000000	0.71417	0.832000	0.32986	0.073000	0.16967	7.279000	0.78599	0.543000	0.28864	-0.225000	0.12378	CGC		0.547	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1		NM_000975		52	125	0	0	0	0.01441	0	52	125		
GRHL3	57822	broad.mit.edu	37	1	24673086	24673086	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:24673086G>C	ENST00000350501.5	+	13	1625	c.1498G>C	c.(1498-1500)Gag>Cag	p.E500Q	GRHL3_ENST00000361548.4_Missense_Mutation_p.E500Q|GRHL3_ENST00000356046.2_Missense_Mutation_p.E454Q|GRHL3_ENST00000342072.4_Missense_Mutation_p.E407Q|GRHL3_ENST00000236255.4_Missense_Mutation_p.E505Q	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	500					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TGAGGAGTTTGAGCCTCTGCC	0.622																																						uc001biy.2		NaN																	0				ovary(1)	1						c.(1513-1515)GAG>CAG		sister-of-mammalian grainyhead protein isoform							71.0	63.0	66.0					1																	24673086		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24673086G>C	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1498G>C	1.37:g.24673086G>C	ENSP00000288955:p.Glu500Gln					GRHL3_uc001bix.2_Missense_Mutation_p.E500Q|GRHL3_uc001biz.2_Missense_Mutation_p.E407Q	p.E505Q	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	13	1559	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	500					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.1513G>C	CCDS252.2	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192361	0.38707	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.11930	2.94;2.73;2.92;2.94;2.93	5.65	5.65	0.86999	.	0.295705	0.42548	D	0.000689	T	0.11410	0.0278	N	0.19112	0.55	0.40305	D	0.978651	P;P;P	0.39216	0.534;0.664;0.664	B;B;B	0.38616	0.143;0.277;0.277	T	0.23726	-1.0180	10	0.19590	T	0.45	-38.5145	18.7088	0.91648	0.0:0.0:1.0:0.0	.	454;505;500	A2A297;Q8TE85-2;G3XAF0	.;.;.	Q	500;407;500;454;505	ENSP00000354943:E500Q;ENSP00000340543:E407Q;ENSP00000288955:E500Q;ENSP00000348333:E454Q;ENSP00000236255:E505Q	ENSP00000236255:E505Q	E	+	1	0	GRHL3	24545673	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.172000	0.50832	2.668000	0.90789	0.591000	0.81541	GAG		0.622	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2		NM_021180		11	35	0	0	0	0.013537	0	11	35		
ARID1A	8289	broad.mit.edu	37	1	27094291	27094291	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:27094291C>T	ENST00000324856.7	+	11	3370	c.2999C>T	c.(2998-3000)tCt>tTt	p.S1000F	ARID1A_ENST00000374152.2_Missense_Mutation_p.S617F|ARID1A_ENST00000457599.2_Missense_Mutation_p.S1000F	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1000	Poly-Ser.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.S1000Y(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AAATCCAGTTCTTCTACTACA	0.473			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Substitution - Missense(1)		large_intestine(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(2998-3000)TCT>TTT		AT rich interactive domain 1A isoform a							83.0	75.0	77.0					1																	27094291		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27094291C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2999C>T	1.37:g.27094291C>T	ENSP00000320485:p.Ser1000Phe					ARID1A_uc001bmt.1_Missense_Mutation_p.S1000F|ARID1A_uc001bmu.1_Missense_Mutation_p.S1000F|ARID1A_uc001bmw.1_Missense_Mutation_p.S617F	p.S1000F	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	11	3372	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1000			Poly-Ser.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.2999C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985892	0.93044	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.03035	4.28;4.07;4.1	5.17	5.17	0.71159	ARID/BRIGHT DNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.16896	0.0406	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.87578	0.991;0.998;0.996	T	0.00149	-1.1987	10	0.45353	T	0.12	-10.6341	18.8566	0.92255	0.0:1.0:0.0:0.0	.	1000;1000;654	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	F	1000;1000;617	ENSP00000320485:S1000F;ENSP00000387636:S1000F;ENSP00000363267:S617F	ENSP00000320485:S1000F	S	+	2	0	ARID1A	26966878	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.678000	0.91216	0.655000	0.94253	TCT		0.473	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		11	26	0	0	0	0.010729	0	11	26		
ARID1A	8289	broad.mit.edu	37	1	27100195	27100195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:27100195C>T	ENST00000324856.7	+	16	4362	c.3991C>T	c.(3991-3993)Cag>Tag	p.Q1331*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q948*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1331*|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1331	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q1331*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		gcagcagcagcagcagcagca	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Substitution - Nonsense(1)		endometrium(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(3991-3993)CAG>TAG		AT rich interactive domain 1A isoform a							66.0	69.0	68.0					1																	27100195		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27100195C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3991C>T	1.37:g.27100195C>T	ENSP00000320485:p.Gln1331*					ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1330*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1331*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q948*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q177*|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	p.Q1331*	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	16	4364	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1331			Gln-rich.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.3991C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.166357|9.166357	0.99087|0.99087	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.470671	.|0.23622	.|N	.|0.046228	T|.	0.44540|.	0.1298|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30504|.	-0.9976|.	4|.	.|0.05959	.|T	.|0.93	0.0565|0.0565	14.9209|14.9209	0.70838|0.70838	0.0:0.857:0.143:0.0|0.0:0.857:0.143:0.0	.|.	.|.	.|.	.|.	V|X	227|1331;1331;948	.|.	.|ENSP00000320485:Q1331X	A|Q	+|+	2|1	0|0	ARID1A|ARID1A	26972782|26972782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.037000|3.037000	0.49775|0.49775	2.686000|2.686000	0.91538|0.91538	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.582	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		38	87	0	0	0	0.005524	0	38	87		
FAM46B	115572	broad.mit.edu	37	1	27332971	27332971	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:27332971C>T	ENST00000289166.5	-	2	907	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	248								p.E247K(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		TACAGGCTTTCGCCTGTGACC	0.622																																						uc010ofj.1		NaN																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(742-744)GAA>AAA		hypothetical protein LOC115572							48.0	53.0	51.0					1																	27332971		2203	4300	6503	SO:0001583	missense	115572							g.chr1:27332971C>T	AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.742G>A	1.37:g.27332971C>T	ENSP00000289166:p.Glu248Lys						p.E248K	NM_052943	NP_443175	Q96A09	FA46B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)	2	914	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	248						Missense_Mutation	SNP	ENST00000289166.5	37	c.742G>A	CCDS294.2	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878710	0.72294	.	.	ENSG00000158246	ENST00000289166	T	0.36878	1.23	5.05	5.05	0.67936	Domain of unknown function DUF1693 (1);	0.046198	0.85682	N	0.000000	T	0.69169	0.3081	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77189	-0.2679	10	0.87932	D	0	-30.4617	18.5889	0.91202	0.0:1.0:0.0:0.0	.	248	Q96A09	FA46B_HUMAN	K	248	ENSP00000289166:E248K	ENSP00000289166:E248K	E	-	1	0	FAM46B	27205558	1.000000	0.71417	0.951000	0.38953	0.072000	0.16883	7.647000	0.83462	2.617000	0.88574	0.561000	0.74099	GAA		0.622	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012347.2		NM_052943		9	19	0	0	0	0.008291	0	9	19		
EPB41	2035	broad.mit.edu	37	1	29319848	29319848	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:29319848C>G	ENST00000343067.4	+	3	602	c.475C>G	c.(475-477)Cag>Gag	p.Q159E	EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000373798.1_Missense_Mutation_p.Q159E|EPB41_ENST00000373797.1_Missense_Mutation_p.Q159E|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.Q159E|EPB41_ENST00000356093.2_Missense_Mutation_p.Q159E|EPB41_ENST00000347529.3_Missense_Mutation_p.Q159E	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	159					actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GTAGCCTGCTCAGGAAGAACT	0.358																																						uc001brm.1		NaN																	0				ovary(1)	1						c.(475-477)CAG>GAG		erythrocyte membrane protein band 4.1							135.0	145.0	142.0					1																	29319848		2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29319848C>G	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.475C>G	1.37:g.29319848C>G	ENSP00000345259:p.Gln159Glu					EPB41_uc001brg.1_5'UTR|EPB41_uc001brh.1_5'UTR|EPB41_uc001bri.1_Missense_Mutation_p.Q159E|EPB41_uc001brj.1_5'UTR|EPB41_uc009vtk.1_Missense_Mutation_p.Q159E|EPB41_uc001brk.2_Missense_Mutation_p.Q159E|EPB41_uc001brl.1_Missense_Mutation_p.Q159E|EPB41_uc009vtl.1_5'UTR|EPB41_uc009vtm.1_Intron	p.Q159E	NM_203342	NP_976217	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	2	482	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	159					B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.475C>G	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339746	0.24339	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398865;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D	0.83837	-1.76;-1.77;-1.58;-1.53;-1.76;-1.75	5.12	5.12	0.69794	.	0.524196	0.18933	N	0.127158	T	0.75547	0.3864	L	0.32530	0.975	0.44976	D	0.997991	B;B;B;B;B	0.13145	0.001;0.007;0.004;0.005;0.005	B;B;B;B;B	0.17722	0.011;0.005;0.013;0.019;0.009	T	0.69442	-0.5144	10	0.11794	T	0.64	.	17.548	0.87867	0.0:1.0:0.0:0.0	.	159;159;159;159;159	C9JTS2;P11171;P11171-2;P11171-7;P11171-5	.;41_HUMAN;.;.;.	E	176;159;159;159;159;159;159;159	ENSP00000345259:Q159E;ENSP00000348397:Q159E;ENSP00000381839:Q159E;ENSP00000290100:Q159E;ENSP00000362904:Q159E;ENSP00000362903:Q159E	ENSP00000345259:Q159E	Q	+	1	0	EPB41	29192435	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.965000	0.70387	2.369000	0.80426	0.557000	0.71058	CAG		0.358	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1		NM_203342		53	133	0	0	0	0.01441	0	53	133		
EPB41	2035	broad.mit.edu	37	1	29319941	29319941	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:29319941C>G	ENST00000343067.4	+	3	695	c.568C>G	c.(568-570)Caa>Gaa	p.Q190E	EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000373798.1_Missense_Mutation_p.Q190E|EPB41_ENST00000373797.1_Missense_Mutation_p.Q190E|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.Q190E|EPB41_ENST00000356093.2_Missense_Mutation_p.Q190E|EPB41_ENST00000347529.3_Missense_Mutation_p.Q190E	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	190					actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AGAAAGCCCTCAATCAAAAGC	0.388																																						uc001brm.1		NaN																	0				ovary(1)	1						c.(568-570)CAA>GAA		erythrocyte membrane protein band 4.1							125.0	126.0	126.0					1																	29319941		2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29319941C>G	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.568C>G	1.37:g.29319941C>G	ENSP00000345259:p.Gln190Glu					EPB41_uc001brg.1_5'UTR|EPB41_uc001brh.1_5'UTR|EPB41_uc001bri.1_Missense_Mutation_p.Q190E|EPB41_uc001brj.1_5'UTR|EPB41_uc009vtk.1_Missense_Mutation_p.Q190E|EPB41_uc001brk.2_Missense_Mutation_p.Q190E|EPB41_uc001brl.1_Missense_Mutation_p.Q190E|EPB41_uc009vtl.1_5'UTR|EPB41_uc009vtm.1_Intron	p.Q190E	NM_203342	NP_976217	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	2	575	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	190					B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.568C>G	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	G	0.907	-0.720280	0.03182	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398865;ENST00000347529;ENST00000373798;ENST00000373797	D;D;T;T;D;D	0.82433	-1.61;-1.6;-1.42;-1.2;-1.61;-1.57	4.69	2.79	0.32731	.	0.322422	0.24154	N	0.041043	T	0.54464	0.1860	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.46898	-0.9158	10	0.02654	T	1	.	7.8839	0.29637	0.0862:0.3397:0.5741:0.0	.	190;190;190;190;190	C9JTS2;P11171;P11171-2;P11171-7;P11171-5	.;41_HUMAN;.;.;.	E	207;190;190;190;190;190;190;190	ENSP00000345259:Q190E;ENSP00000348397:Q190E;ENSP00000381839:Q190E;ENSP00000290100:Q190E;ENSP00000362904:Q190E;ENSP00000362903:Q190E	ENSP00000345259:Q190E	Q	+	1	0	EPB41	29192528	0.790000	0.28787	0.480000	0.27341	0.872000	0.50106	1.467000	0.35321	0.203000	0.20529	-0.224000	0.12420	CAA		0.388	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1		NM_203342		26	62	0	0	0	0.00632	0	26	62		
S100PBP	64766	broad.mit.edu	37	1	33291827	33291827	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:33291827G>A	ENST00000373475.5	+	3	381	c.127G>A	c.(127-129)Gag>Aag	p.E43K	S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.E43K|S100PBP_ENST00000398243.3_Missense_Mutation_p.E43K	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGAGCTGTCAGAGGGAGAAGA	0.468																																						uc001bvz.2		NaN																	0					0						c.(127-129)GAG>AAG		S100P binding protein isoform a							161.0	149.0	153.0					1																	33291827		2203	4300	6503	SO:0001583	missense	64766					nucleus	calcium-dependent protein binding	g.chr1:33291827G>A	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.127G>A	1.37:g.33291827G>A	ENSP00000362574:p.Glu43Lys					S100PBP_uc001bwa.1_Missense_Mutation_p.E43K|S100PBP_uc001bwb.1_Missense_Mutation_p.E43K|S100PBP_uc001bwc.2_Missense_Mutation_p.E43K|S100PBP_uc001bwd.2_RNA	p.E43K	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN			3	404	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	43						Missense_Mutation	SNP	ENST00000373475.5	37	c.127G>A	CCDS30666.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764659	0.69878	.	.	ENSG00000116497	ENST00000530710;ENST00000373476;ENST00000373475;ENST00000531123;ENST00000398243;ENST00000356689;ENST00000526230;ENST00000531256;ENST00000482212	.	.	.	5.71	5.71	0.89125	.	0.820071	0.11470	N	0.560840	T	0.42854	0.1221	N	0.19112	0.55	0.38769	D	0.954518	P;P	0.46142	0.873;0.763	B;B	0.39379	0.298;0.167	T	0.52155	-0.8613	9	0.66056	D	0.02	-2.6611	16.9643	0.86281	0.0:0.0:1.0:0.0	.	43;43	A8MTZ6;Q96BU1	.;S1PBP_HUMAN	K	43	.	ENSP00000349117:E43K	E	+	1	0	S100PBP	33064414	1.000000	0.71417	0.995000	0.50966	0.886000	0.51366	4.850000	0.62889	2.873000	0.98535	0.561000	0.74099	GAG		0.468	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1		NM_022753		35	136	0	0	0	0.004878	0	35	136		
S100PBP	64766	broad.mit.edu	37	1	33292181	33292181	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:33292181G>C	ENST00000373475.5	+	3	735	c.481G>C	c.(481-483)Gat>Cat	p.D161H	S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.D161H|S100PBP_ENST00000398243.3_Missense_Mutation_p.D161H	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TGCTCTGCTTGATAAGGACGA	0.383																																						uc001bvz.2		NaN																	0					0						c.(481-483)GAT>CAT		S100P binding protein isoform a							70.0	71.0	71.0					1																	33292181		2203	4300	6503	SO:0001583	missense	64766					nucleus	calcium-dependent protein binding	g.chr1:33292181G>C	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.481G>C	1.37:g.33292181G>C	ENSP00000362574:p.Asp161His					S100PBP_uc001bwa.1_Missense_Mutation_p.D161H|S100PBP_uc001bwb.1_Missense_Mutation_p.D161H|S100PBP_uc001bwc.2_Missense_Mutation_p.D161H|S100PBP_uc001bwd.2_RNA	p.D161H	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN			3	758	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	161						Missense_Mutation	SNP	ENST00000373475.5	37	c.481G>C	CCDS30666.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.370277	0.42003	.	.	ENSG00000116497	ENST00000373476;ENST00000373475;ENST00000531123;ENST00000398243;ENST00000356689;ENST00000531256	.	.	.	5.85	4.94	0.65067	.	0.482017	0.19838	N	0.104903	T	0.55955	0.1953	L	0.27053	0.805	0.36304	D	0.85723	D;D	0.76494	0.999;0.999	D;D	0.66351	0.943;0.943	T	0.60782	-0.7195	8	.	.	.	-9.704	11.2563	0.49056	0.0839:0.0:0.9161:0.0	.	161;161	A8MTZ6;Q96BU1	.;S1PBP_HUMAN	H	161	.	.	D	+	1	0	S100PBP	33064768	1.000000	0.71417	1.000000	0.80357	0.299000	0.27559	2.812000	0.47994	1.627000	0.50400	0.655000	0.94253	GAT		0.383	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1		NM_022753		11	51	0	0	0	0.007413	0	11	51		
S100PBP	64766	broad.mit.edu	37	1	33292214	33292214	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:33292214G>A	ENST00000373475.5	+	3	768	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.E172K|S100PBP_ENST00000398243.3_Missense_Mutation_p.E172K	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAAAGATACTGAAAAACTCTC	0.393																																						uc001bvz.2		NaN																	0					0						c.(514-516)GAA>AAA		S100P binding protein isoform a							69.0	72.0	71.0					1																	33292214		2203	4300	6503	SO:0001583	missense	64766					nucleus	calcium-dependent protein binding	g.chr1:33292214G>A	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.514G>A	1.37:g.33292214G>A	ENSP00000362574:p.Glu172Lys					S100PBP_uc001bwa.1_Missense_Mutation_p.E172K|S100PBP_uc001bwb.1_Missense_Mutation_p.E172K|S100PBP_uc001bwc.2_Missense_Mutation_p.E172K|S100PBP_uc001bwd.2_RNA	p.E172K	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN			3	791	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	172						Missense_Mutation	SNP	ENST00000373475.5	37	c.514G>A	CCDS30666.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629850	0.28978	.	.	ENSG00000116497	ENST00000373476;ENST00000373475;ENST00000531123;ENST00000398243;ENST00000356689	.	.	.	5.32	4.16	0.48862	.	0.265733	0.35067	N	0.003470	T	0.27063	0.0663	L	0.27053	0.805	0.25903	N	0.983335	B;B	0.24043	0.096;0.037	B;B	0.25614	0.062;0.024	T	0.13202	-1.0518	8	.	.	.	-9.3078	7.9797	0.30177	0.1304:0.0:0.8696:0.0	.	172;172	A8MTZ6;Q96BU1	.;S1PBP_HUMAN	K	172	.	.	E	+	1	0	S100PBP	33064801	0.902000	0.30710	0.870000	0.34147	0.653000	0.38743	1.417000	0.34770	1.529000	0.49120	0.655000	0.94253	GAA		0.393	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1		NM_022753		12	46	0	0	0	0.010504	0	12	46		
S100PBP	64766	broad.mit.edu	37	1	33292240	33292240	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:33292240G>A	ENST00000373475.5	+	3	794	c.540G>A	c.(538-540)gaG>gaA	p.E180E	S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Silent_p.E180E|S100PBP_ENST00000398243.3_Silent_p.E180E	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TTGGAGAAGAGATGAGAGAAG	0.448																																						uc001bvz.2		NaN																	0					0						c.(538-540)GAG>GAA		S100P binding protein isoform a							70.0	73.0	72.0					1																	33292240		2203	4300	6503	SO:0001819	synonymous_variant	64766					nucleus	calcium-dependent protein binding	g.chr1:33292240G>A	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.540G>A	1.37:g.33292240G>A						S100PBP_uc001bwa.1_Silent_p.E180E|S100PBP_uc001bwb.1_Silent_p.E180E|S100PBP_uc001bwc.2_Silent_p.E180E|S100PBP_uc001bwd.2_RNA	p.E180E	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN			3	817	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	180						Silent	SNP	ENST00000373475.5	37	c.540G>A	CCDS30666.1																																																																																				0.448	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1		NM_022753		15	47	0	0	0	0.014323	0	15	47		
GJB3	2707	broad.mit.edu	37	1	35251005	35251005	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:35251005C>G	ENST00000373366.2	+	2	1257	c.642C>G	c.(640-642)gtC>gtG	p.V214V	RP1-34M23.5_ENST00000542839.1_RNA|GJB3_ENST00000373362.3_Silent_p.V214V	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	214					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)	p.V214>?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCCACAGGGTCCTGCGAGGCC	0.622																																						uc001bxx.2		NaN																	1	Complex(1)		large_intestine(1)		0						c.(640-642)GTC>GTG		connexin 31							50.0	46.0	47.0					1																	35251005		2203	4300	6503	SO:0001819	synonymous_variant	2707				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35251005C>G	BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"""Ion channels / Gap junction proteins (connexins)"""	4285	protein-coding gene	gene with protein product	"""connexin 31"""	603324	"""gap junction protein, beta 3, 31kD (connexin 31)"", ""gap junction protein, beta 3, 31kDa (connexin 31)"", ""erythrokeratodermia variabilis"""	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.642C>G	1.37:g.35251005C>G						GJB3_uc001bxy.2_Silent_p.V214V|GJB3_uc001bxz.3_Silent_p.V214V|uc010ohs.1_RNA	p.V214V	NM_024009	NP_076872	O75712	CXB3_HUMAN			2	1257	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	214			Cytoplasmic (Potential).		B2R790|Q2TAZ8	Silent	SNP	ENST00000373366.2	37	c.642C>G	CCDS384.1																																																																																				0.622	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011559.1		NM_024009		13	33	0	0	0	0.00245	0	13	33		
GRIK3	2899	broad.mit.edu	37	1	37319267	37319267	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:37319267C>T	ENST00000373091.3	-	8	1177	c.1161G>A	c.(1159-1161)cgG>cgA	p.R387R	GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Silent_p.R387R	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	387					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CAAAATCCGTCCGCAAGCCAC	0.547																																						uc001caz.2		NaN																	0				ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(1159-1161)CGG>CGA		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						73.0	70.0	71.0					1																	37319267		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37319267C>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1161G>A	1.37:g.37319267C>T						GRIK3_uc001cba.1_Silent_p.R387R	p.R387R	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			8	1296	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	387			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.1161G>A	CCDS416.1																																																																																				0.547	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1		NM_000831		24	67	0	0	0	0.016522	0	24	67		
SLC2A1	6513	broad.mit.edu	37	1	43396370	43396370	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:43396370G>A	ENST00000426263.3	-	4	621	c.443C>T	c.(442-444)tCa>tTa	p.S148L	SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000372500.3_Missense_Mutation_p.S148L	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	148					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GGCTGTGGGTGACACTTCACC	0.622																																						uc001cik.2		NaN																	0				central_nervous_system(2)|pancreas(2)|ovary(1)	5						c.(442-444)TCA>TTA		solute carrier family 2 (facilitated glucose	Etomidate(DB00292)						46.0	42.0	43.0					1																	43396370		2203	4300	6503	SO:0001583	missense	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43396370G>A	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.443C>T	1.37:g.43396370G>A	ENSP00000416293:p.Ser148Leu						p.S148L	NM_006516	NP_006507	P11166	GTR1_HUMAN			4	968	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	148			Cytoplasmic (Potential).		A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	c.443C>T	CCDS477.1	.	.	.	.	.	.	.	.	.	.	G	35	5.508194	0.96386	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019;ENST00000439722;ENST00000372500	T;T;T	0.75589	-0.95;-0.95;-0.95	5.51	5.51	0.81932	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.105601	0.64402	D	0.000003	D	0.85435	0.5696	H	0.94886	3.595	0.80722	D	1	P	0.39831	0.69	P	0.45099	0.469	D	0.88956	0.3390	10	0.87932	D	0	.	16.9145	0.86148	0.0:0.0:1.0:0.0	.	148	P11166	GTR1_HUMAN	L	148;148;113;53;148	ENSP00000416293:S148L;ENSP00000395521:S53L;ENSP00000361578:S148L	ENSP00000361578:S148L	S	-	2	0	SLC2A1	43168957	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.476000	0.97823	2.581000	0.87130	0.555000	0.69702	TCA		0.622	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2		NM_006516		6	16	0	0	0	0.001168	0	6	16		
RAB3B	5865	broad.mit.edu	37	1	52442680	52442680	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:52442680G>T	ENST00000371655.3	-	2	322	c.110C>A	c.(109-111)tCc>tAc	p.S37Y		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	37					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle size (GO:0097494)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						GAAGAGGAAGGAGGTCTTGCC	0.493																																						uc001cth.2		NaN																	0				ovary(1)	1						c.(109-111)TCC>TAC		RAB3B, member RAS oncogene family							190.0	144.0	160.0					1																	52442680		2203	4300	6503	SO:0001583	missense	5865				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr1:52442680G>T	BC005035	CCDS560.1	1p32-p31	2008-02-05			ENSG00000169213	ENSG00000169213		"""RAB, member RAS oncogene"""	9778	protein-coding gene	gene with protein product		179510					Standard	NM_002867		Approved		uc001cth.3	P20337	OTTHUMG00000008627	ENST00000371655.3:c.110C>A	1.37:g.52442680G>T	ENSP00000360718:p.Ser37Tyr						p.S37Y	NM_002867	NP_002858	P20337	RAB3B_HUMAN			2	235	-			37			GTP.		Q5VUL2|Q9BSI1	Missense_Mutation	SNP	ENST00000371655.3	37	c.110C>A	CCDS560.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629242	0.87560	.	.	ENSG00000169213	ENST00000371655;ENST00000537650	D	0.83591	-1.74	5.49	5.49	0.81192	Small GTP-binding protein domain (1);	0.121554	0.56097	D	0.000030	D	0.94568	0.8250	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95716	0.8762	10	0.87932	D	0	.	19.5755	0.95441	0.0:0.0:1.0:0.0	.	37	P20337	RAB3B_HUMAN	Y	37	ENSP00000360718:S37Y	ENSP00000360718:S37Y	S	-	2	0	RAB3B	52215268	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.977000	0.70492	2.865000	0.98341	0.655000	0.94253	TCC		0.493	RAB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023816.1		NM_002867		22	90	1	0	1.96895e-08	0.016522	2.06835e-08	22	90		
SCP2	6342	broad.mit.edu	37	1	53416446	53416446	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:53416446G>C	ENST00000371514.3	+	4	387	c.219G>C	c.(217-219)caG>caC	p.Q73H	SCP2_ENST00000528311.1_5'UTR|SCP2_ENST00000371509.4_Intron|SCP2_ENST00000407246.2_Missense_Mutation_p.Q49H|SCP2_ENST00000371513.5_Intron	NM_002979.4	NP_002970.2	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CCTGTGGGCAGAGGGCTATCT	0.378																																						uc001cur.1		NaN																	0				breast(1)	1						c.(217-219)CAG>CAC		sterol carrier protein 2 isoform 1 proprotein							140.0	134.0	136.0					1																	53416446		2203	4300	6503	SO:0001583	missense	6342				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding	g.chr1:53416446G>C	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000371514.3:c.219G>C	1.37:g.53416446G>C	ENSP00000360569:p.Gln73His					SCP2_uc001cus.1_RNA|SCP2_uc010ono.1_5'UTR|SCP2_uc010onp.1_Missense_Mutation_p.Q49H|SCP2_uc009vzi.1_Intron|SCP2_uc001cuq.1_Intron	p.Q73H	NM_002979	NP_002970	P22307	NLTP_HUMAN			4	340	+			73					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000371514.3	37	c.219G>C	CCDS572.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.41|17.41	3.382266|3.382266	0.61845|0.61845	.|.	.|.	ENSG00000116171|ENSG00000116171	ENST00000371514;ENST00000407246|ENST00000529363	D;D|.	0.94897|.	-3.55;-3.55|.	5.61|5.61	4.7|4.7	0.59300|0.59300	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74997|0.74997	0.3790|0.3790	M|M	0.85041|0.85041	2.73|2.73	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.97110|.	1.0;0.986|.	T|T	0.76686|0.76686	-0.2868|-0.2868	10|5	0.72032|.	D|.	0.01|.	-13.012|-13.012	9.714|9.714	0.40263|0.40263	0.161:0.0:0.839:0.0|0.161:0.0:0.839:0.0	.|.	49;73|.	C9JC79;P22307|.	.;NLTP_HUMAN|.	H|T	73;49|48	ENSP00000360569:Q73H;ENSP00000384569:Q49H|.	ENSP00000360569:Q73H|.	Q|R	+|+	3|2	2|0	SCP2|SCP2	53189034|53189034	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	2.778000|2.778000	0.47726|0.47726	1.353000|1.353000	0.45828|0.45828	0.563000|0.563000	0.77884|0.77884	CAG|AGA		0.378	SCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024740.2		NM_002979		28	66	0	0	0	0.008361	0	28	66		
SSBP3	23648	broad.mit.edu	37	1	54692805	54692805	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:54692805C>T	ENST00000371320.3	-	18	1576	c.1166G>A	c.(1165-1167)tGa>tAa	p.*389*	SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000371319.3_Silent_p.*362*|SSBP3_ENST00000417664.2_Silent_p.*279*|SSBP3_ENST00000357475.4_Silent_p.*369*	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	0					head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						AAGGGGGGATCACACACTCAT	0.567																																						uc001cxe.2		NaN																	0					0						c.(1165-1167)TGA>TAA		single stranded DNA binding protein 3 isoform a							106.0	122.0	116.0					1																	54692805		2202	4299	6501	SO:0001819	synonymous_variant	23648				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding	g.chr1:54692805C>T		CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"""single-stranded DNA-binding protein 3"""			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.1166G>A	1.37:g.54692805C>T						SSBP3_uc001cxf.2_Silent_p.*369*|SSBP3_uc001cxg.2_Silent_p.*362*|SSBP3_uc001cxd.2_Silent_p.*78*	p.*389*	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN			18	1464	-			389					A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Silent	SNP	ENST00000371320.3	37	c.1166G>A	CCDS591.1																																																																																				0.567	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022721.1		NM_018070		52	193	0	0	0	0.01441	0	52	193		
KANK4	163782	broad.mit.edu	37	1	62728783	62728783	+	Silent	SNP	C	C	T	rs532705606		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:62728783C>T	ENST00000371153.4	-	7	2898	c.2520G>A	c.(2518-2520)gtG>gtA	p.V840V	KANK4_ENST00000371150.1_Silent_p.V196V|KANK4_ENST00000354381.3_Silent_p.V212V|KANK4_ENST00000317477.4_5'UTR	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	840			V -> A (in dbSNP:rs2666472). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005}.			cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCAGCAGCTTCACGATGGAGA	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20187	0.0		0.0	False		,,,				2504	0.0					uc001dah.3		NaN																	0				ovary(3)|skin(2)|lung(1)	6						c.(2518-2520)GTG>GTA		ankyrin repeat domain 38							57.0	44.0	48.0					1																	62728783		2203	4300	6503	SO:0001819	synonymous_variant	163782							g.chr1:62728783C>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2520G>A	1.37:g.62728783C>T						KANK4_uc001dai.3_Silent_p.V212V|KANK4_uc001daf.3_5'UTR|KANK4_uc001dag.3_Silent_p.V196V	p.V840V	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			7	2897	-			840			ANK 1.		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	ENST00000371153.4	37	c.2520G>A	CCDS620.1																																																																																				0.483	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1		NM_181712		5	24	0	0	0	0.008291	0	5	24		
GBP1	2633	broad.mit.edu	37	1	89520378	89520378	+	Missense_Mutation	SNP	G	G	A	rs370449948		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:89520378G>A	ENST00000370473.4	-	10	1871	c.1652C>T	c.(1651-1653)gCt>gTt	p.A551V	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	551					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		AAGTTTAAGAGCGAGGGTCCT	0.448																																						uc001dmx.2		NaN																	0				ovary(1)|skin(1)	2						c.(1651-1653)GCT>GTT		guanylate binding protein 1,							183.0	175.0	178.0					1																	89520378		2203	4300	6503	SO:0001583	missense	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89520378G>A	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1652C>T	1.37:g.89520378G>A	ENSP00000359504:p.Ala551Val						p.A551V	NM_002053	NP_002044	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	10	1872	-		Lung NSC(277;0.123)	551					D3DT26|Q5T8M1	Missense_Mutation	SNP	ENST00000370473.4	37	c.1652C>T	CCDS718.1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538503	0.27475	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.55052	0.54	4.67	-3.27	0.05048	Guanylate-binding protein, C-terminal (3);	0.683528	0.14136	N	0.339054	T	0.23688	0.0573	M	0.82517	2.595	0.09310	N	1	P	0.35612	0.512	B	0.26864	0.074	T	0.17137	-1.0379	10	0.59425	D	0.04	.	2.066	0.03603	0.1636:0.1187:0.236:0.4817	.	551	P32455	GBP1_HUMAN	V	551;514	ENSP00000359504:A551V	ENSP00000359504:A551V	A	-	2	0	GBP1	89292966	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.012000	0.12699	-0.233000	0.09797	-0.500000	0.04577	GCT		0.448	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3		NM_002053		39	100	0	0	0	0.00623	0	39	100		
ZNF644	84146	broad.mit.edu	37	1	91405439	91405439	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:91405439C>T	ENST00000370440.1	-	3	1689	c.1472G>A	c.(1471-1473)gGa>gAa	p.G491E	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.G491E			Q9H582	ZN644_HUMAN	zinc finger protein 644	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TGCACTTCTTCCTTCATCCTG	0.388																																						uc001dnw.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(1471-1473)GGA>GAA		zinc finger protein 644 isoform 1							233.0	219.0	224.0					1																	91405439		2203	4300	6503	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91405439C>T	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1472G>A	1.37:g.91405439C>T	ENSP00000359469:p.Gly491Glu					ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.G491E	p.G491E	NM_201269	NP_958357	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	1614	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	491					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.1472G>A	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506529	0.64410	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.00587	6.38;6.38	5.88	5.88	0.94601	.	0.113256	0.64402	D	0.000012	T	0.01870	0.0059	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64011	-0.6507	10	0.62326	D	0.03	-13.7033	20.2441	0.98394	0.0:1.0:0.0:0.0	.	491	Q9H582	ZN644_HUMAN	E	491;491;63	ENSP00000359469:G491E;ENSP00000337008:G491E	ENSP00000337008:G491E	G	-	2	0	ZNF644	91178027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.897000	0.48664	2.774000	0.95407	0.655000	0.94253	GGA		0.388	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2		NM_032186		29	87	0	0	0	0.010818	0	29	87		
ABCD3	5825	broad.mit.edu	37	1	94953293	94953293	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:94953293C>G	ENST00000370214.4	+	12	1035	c.1011C>G	c.(1009-1011)ttC>ttG	p.F337L	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Intron|ABCD3_ENST00000536817.1_Missense_Mutation_p.F264L|ABCD3_ENST00000454898.2_Missense_Mutation_p.F361L	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	337	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		GTCGCCCTTTCTTAGATTTGT	0.363																																						uc001dqn.3		NaN																	0				skin(1)	1						c.(1009-1011)TTC>TTG		ATP-binding cassette, sub-family D, member 3							172.0	153.0	159.0					1																	94953293		2203	4300	6503	SO:0001583	missense	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94953293C>G	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1011C>G	1.37:g.94953293C>G	ENSP00000359233:p.Phe337Leu					ABCD3_uc010oto.1_Missense_Mutation_p.F361L|ABCD3_uc010otp.1_Missense_Mutation_p.F264L|ABCD3_uc009wdr.2_Intron|ABCD3_uc001dqo.3_Missense_Mutation_p.F25L	p.F337L	NM_002858	NP_002849	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	12	1113	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	337			ABC transmembrane type-1.		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	c.1011C>G	CCDS749.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111445	0.77210	.	.	ENSG00000117528	ENST00000454898;ENST00000536817;ENST00000370214	D;D;D	0.99571	-6.19;-6.19;-6.19	5.97	2.02	0.26589	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99227	0.9731	M	0.78916	2.43	0.58432	D	0.999998	D;D	0.59767	0.986;0.974	P;P	0.62014	0.897;0.897	D	0.99229	1.0881	10	0.51188	T	0.08	-16.0333	10.3601	0.43989	0.0:0.6586:0.0:0.3414	.	361;337	E7EUE1;P28288	.;ABCD3_HUMAN	L	361;264;337	ENSP00000403357:F361L;ENSP00000440692:F264L;ENSP00000359233:F337L	ENSP00000359233:F337L	F	+	3	2	ABCD3	94725881	0.997000	0.39634	0.994000	0.49952	0.983000	0.72400	0.606000	0.24194	0.407000	0.25591	0.591000	0.81541	TTC		0.363	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1		NM_002858		18	85	0	0	0	0.012213	0	18	85		
ABCD3	5825	broad.mit.edu	37	1	94953306	94953306	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:94953306C>T	ENST00000370214.4	+	12	1048	c.1024C>T	c.(1024-1026)Cat>Tat	p.H342Y	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Intron|ABCD3_ENST00000536817.1_Missense_Mutation_p.H269Y|ABCD3_ENST00000454898.2_Missense_Mutation_p.H366Y	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	342	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AGATTTGTCTCATCCTCGACA	0.358																																						uc001dqn.3		NaN																	0				skin(1)	1						c.(1024-1026)CAT>TAT		ATP-binding cassette, sub-family D, member 3							168.0	149.0	155.0					1																	94953306		2203	4300	6503	SO:0001583	missense	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94953306C>T	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1024C>T	1.37:g.94953306C>T	ENSP00000359233:p.His342Tyr					ABCD3_uc010oto.1_Missense_Mutation_p.H366Y|ABCD3_uc010otp.1_Missense_Mutation_p.H269Y|ABCD3_uc009wdr.2_Intron|ABCD3_uc001dqo.3_Missense_Mutation_p.H30Y	p.H342Y	NM_002858	NP_002849	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	12	1126	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	342			ABC transmembrane type-1.		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	c.1024C>T	CCDS749.1	.	.	.	.	.	.	.	.	.	.	C	9.576	1.122319	0.20877	.	.	ENSG00000117528	ENST00000454898;ENST00000536817;ENST00000370214	D;D;D	0.96856	-4.15;-4.15;-4.15	5.97	5.97	0.96955	ABC transporter, transmembrane domain, type 1 (1);	0.044796	0.85682	D	0.000000	D	0.89210	0.6650	L	0.43923	1.385	0.58432	D	0.999998	B;B	0.12013	0.005;0.002	B;B	0.13407	0.009;0.003	D	0.84290	0.0499	10	0.02654	T	1	-20.2727	16.8549	0.86003	0.0:0.8635:0.1365:0.0	.	366;342	E7EUE1;P28288	.;ABCD3_HUMAN	Y	366;269;342	ENSP00000403357:H366Y;ENSP00000440692:H269Y;ENSP00000359233:H342Y	ENSP00000359233:H342Y	H	+	1	0	ABCD3	94725894	1.000000	0.71417	0.755000	0.31263	0.983000	0.72400	3.832000	0.55783	2.823000	0.97156	0.591000	0.81541	CAT		0.358	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1		NM_002858		13	76	0	0	0	0.007291	0	13	76		
ABCD3	5825	broad.mit.edu	37	1	94953342	94953342	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:94953342C>G	ENST00000370214.4	+	12	1084	c.1060C>G	c.(1060-1062)Cta>Gta	p.L354V	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Intron|ABCD3_ENST00000536817.1_Missense_Mutation_p.L281V|ABCD3_ENST00000454898.2_Missense_Mutation_p.L378V	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	354	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TTCGGAACTTCTAGAGGTAAA	0.333																																						uc001dqn.3		NaN																	0				skin(1)	1						c.(1060-1062)CTA>GTA		ATP-binding cassette, sub-family D, member 3							113.0	101.0	105.0					1																	94953342		2203	4300	6503	SO:0001583	missense	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94953342C>G	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1060C>G	1.37:g.94953342C>G	ENSP00000359233:p.Leu354Val					ABCD3_uc010oto.1_Missense_Mutation_p.L378V|ABCD3_uc010otp.1_Missense_Mutation_p.L281V|ABCD3_uc009wdr.2_Intron|ABCD3_uc001dqo.3_Missense_Mutation_p.L42V	p.L354V	NM_002858	NP_002849	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	12	1162	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	354			ABC transmembrane type-1.		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	c.1060C>G	CCDS749.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160032	0.38119	.	.	ENSG00000117528	ENST00000454898;ENST00000536817;ENST00000370214	D;D;D	0.98028	-4.67;-4.67;-4.67	5.97	3.91	0.45181	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	M	0.72894	2.215	0.58432	D	0.999997	B;B	0.34161	0.439;0.295	B;B	0.32677	0.15;0.15	D	0.93493	0.6837	10	0.38643	T	0.18	-7.987	9.3966	0.38406	0.0:0.7269:0.0:0.2731	.	378;354	E7EUE1;P28288	.;ABCD3_HUMAN	V	378;281;354	ENSP00000403357:L378V;ENSP00000440692:L281V;ENSP00000359233:L354V	ENSP00000359233:L354V	L	+	1	2	ABCD3	94725930	0.605000	0.26941	1.000000	0.80357	0.870000	0.49936	0.897000	0.28390	1.534000	0.49203	-0.229000	0.12294	CTA		0.333	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1		NM_002858		5	47	0	0	0	0.008871	0	5	47		
FNDC7	163479	broad.mit.edu	37	1	109265152	109265152	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:109265152C>T	ENST00000370017.3	+	5	1071	c.794C>T	c.(793-795)tCa>tTa	p.S265L	FNDC7_ENST00000271311.2_Missense_Mutation_p.S266L	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	265	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TACTTGATTTCAGTTTTAGCA	0.453																																						uc001dvx.2		NaN																	0				ovary(1)|skin(1)	2						c.(793-795)TCA>TTA		fibronectin type III domain containing 7							90.0	82.0	84.0					1																	109265152		2203	4300	6503	SO:0001583	missense	163479					extracellular region		g.chr1:109265152C>T		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.794C>T	1.37:g.109265152C>T	ENSP00000359034:p.Ser265Leu					FNDC7_uc010ova.1_Missense_Mutation_p.S32L	p.S265L	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	5	794	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	266			Fibronectin type-III 3.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	ENST00000370017.3	37	c.794C>T	CCDS44185.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521436	0.64747	.	.	ENSG00000143107	ENST00000370017;ENST00000271311	T;T	0.53423	0.62;0.62	5.78	4.87	0.63330	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.471071	0.24422	N	0.038661	T	0.36468	0.0968	M	0.65975	2.015	0.23802	N	0.996803	P;D	0.58620	0.944;0.983	B;P	0.51016	0.391;0.656	T	0.20672	-1.0268	10	0.25751	T	0.34	-4.8664	9.6659	0.39983	0.1402:0.7893:0.0:0.0705	.	266;265	Q5VTL7;E9PAZ5	FNDC7_HUMAN;.	L	265;266	ENSP00000359034:S265L;ENSP00000271311:S266L	ENSP00000271311:S266L	S	+	2	0	FNDC7	109066675	0.234000	0.23783	0.771000	0.31576	0.764000	0.43329	0.891000	0.28309	1.461000	0.47929	0.455000	0.32223	TCA		0.453	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4		NM_173532		14	44	0	0	0	0.00245	0	14	44		
DRAM2	128338	broad.mit.edu	37	1	111674048	111674048	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:111674048G>A	ENST00000286692.4	-	3	746	c.129C>T	c.(127-129)atC>atT	p.I43I	DRAM2_ENST00000539140.1_Silent_p.I43I|DRAM2_ENST00000484310.1_5'UTR			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	43					apoptotic process (GO:0006915)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|microtubule cytoskeleton (GO:0015630)				endometrium(1)|large_intestine(5)|lung(3)	9						TCACTTACCTGATATAAGGTA	0.338																																						uc001ead.3		NaN																	0					0						c.(127-129)ATC>ATT		transmembrane protein 77							105.0	104.0	104.0					1																	111674048		2203	4300	6503	SO:0001819	synonymous_variant	128338				apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane		g.chr1:111674048G>A	AY336747	CCDS30801.1	1p13.3	2010-07-08	2009-06-12	2009-06-12	ENSG00000156171	ENSG00000156171			28769	protein-coding gene	gene with protein product		613360	"""transmembrane protein 77"""	TMEM77		12975309	Standard	NM_178454		Approved	MGC54289, PRO180, WWFQ154, RP5-1180E21.1	uc001ead.4	Q6UX65	OTTHUMG00000011911	ENST00000286692.4:c.129C>T	1.37:g.111674048G>A						DRAM2_uc001eae.3_Silent_p.I43I|DRAM2_uc009wfy.2_RNA|DRAM2_uc001eaf.3_5'UTR	p.I43I	NM_178454	NP_848549	Q6UX65	DRAM2_HUMAN			3	386	-			43					B3SUG9|Q4VWF6|Q86VD3|Q8NBQ4	Silent	SNP	ENST00000286692.4	37	c.129C>T	CCDS30801.1																																																																																				0.338	DRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032930.3		NM_178454		16	69	0	0	0	0.007413	0	16	69		
PRPF3	9129	broad.mit.edu	37	1	150307520	150307520	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:150307520G>C	ENST00000324862.6	+	7	1008	c.843G>C	c.(841-843)ctG>ctC	p.L281L	PRPF3_ENST00000414970.2_Silent_p.L232L|PRPF3_ENST00000543398.1_Silent_p.L146L|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	281					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TGCCTACTCTGAAAGCCAATA	0.473																																					Ovarian(168;1070 2670 5178 20729)	uc001eum.3		NaN																	0				ovary(1)	1						c.(841-843)CTG>CTC		PRP3 pre-mRNA processing factor 3 homolog							107.0	87.0	94.0					1																	150307520		2203	4300	6503	SO:0001819	synonymous_variant	9129				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding	g.chr1:150307520G>C	AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"""retinitis pigmentosa 18 (autosomal dominant)"", ""PRP3 pre-mRNA processing factor 3 homolog (yeast)"", ""PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"""	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.843G>C	1.37:g.150307520G>C						PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Silent_p.L240L|PRPF3_uc010pcb.1_Silent_p.L232L|PRPF3_uc009wlq.1_RNA	p.L281L	NM_004698	NP_004689	O43395	PRPF3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)	7	1005	+	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		281					B4DSY9|O43446|Q5VT54	Silent	SNP	ENST00000324862.6	37	c.843G>C	CCDS951.1																																																																																				0.473	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035836.1		NM_004698		9	28	0	0	0	0.013537	0	9	28		
TCHH	7062	broad.mit.edu	37	1	152080083	152080083	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:152080083C>G	ENST00000368804.1	-	2	5609	c.5610G>C	c.(5608-5610)caG>caC	p.Q1870H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1870	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCGACGTTTCTGCTCCTCTT	0.582																																						uc001ezp.2		NaN																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(5608-5610)CAG>CAC		trichohyalin							163.0	162.0	163.0					1																	152080083		2085	4196	6281	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080083C>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5610G>C	1.37:g.152080083C>G	ENSP00000357794:p.Gln1870His					TCHH_uc009wne.1_Missense_Mutation_p.Q1870H	p.Q1870H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5610	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1870			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.5610G>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	9.218	1.032742	0.19590	.	.	ENSG00000159450	ENST00000368804	T	0.06218	3.33	4.29	2.36	0.29203	.	.	.	.	.	T	0.07908	0.0198	M	0.65498	2.005	0.09310	N	0.999999	D	0.76494	0.999	P	0.62885	0.908	T	0.17653	-1.0362	9	0.42905	T	0.14	-21.4008	7.8485	0.29440	0.0:0.7838:0.0:0.2162	.	1870	Q07283	TRHY_HUMAN	H	1870	ENSP00000357794:Q1870H	ENSP00000357794:Q1870H	Q	-	3	2	TCHH	150346707	0.000000	0.05858	0.005000	0.12908	0.446000	0.32137	0.601000	0.24119	0.248000	0.21435	0.313000	0.20887	CAG		0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		NM_007113		34	75	0	0	0	0.003755	0	34	75		
FCRL2	79368	broad.mit.edu	37	1	157745580	157745580	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:157745580C>T	ENST00000361516.3	-	2	85	c.37G>A	c.(37-39)Gtc>Atc	p.V13I	FCRL2_ENST00000368181.4_Missense_Mutation_p.V13I|FCRL2_ENST00000392274.3_Missense_Mutation_p.V13I	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	13					cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGTTCAGTGACTGCATCTGTG	0.428																																						uc001fre.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(37-39)GTC>ATC		Fc receptor-like 2 precursor							115.0	95.0	102.0					1																	157745580		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157745580C>T	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.37G>A	1.37:g.157745580C>T	ENSP00000355157:p.Val13Ile					FCRL2_uc010phz.1_Missense_Mutation_p.V13I|FCRL2_uc009wsp.2_Missense_Mutation_p.V13I|FCRL2_uc010pia.1_Missense_Mutation_p.V13I	p.V13I	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		2	96	-	all_hematologic(112;0.0378)		13					A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.37G>A	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	C	6.896	0.534775	0.13188	.	.	ENSG00000132704	ENST00000361516;ENST00000368181;ENST00000392274	T;T;T	0.21543	2.08;3.6;2.0	4.51	-5.65	0.02459	.	2.467030	0.02653	N	0.106690	T	0.02727	0.0082	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.25312	0.02;0.085;0.123;0.073	B;B;B;B	0.26614	0.01;0.026;0.015;0.071	T	0.22695	-1.0209	10	0.28530	T	0.3	.	0.2639	0.00222	0.2316:0.2711:0.1729:0.3244	.	13;13;13;13	B4E0W2;B4DVJ9;Q96LA5-5;Q96LA5	.;.;.;FCRL2_HUMAN	I	13	ENSP00000355157:V13I;ENSP00000357163:V13I;ENSP00000376100:V13I	ENSP00000355157:V13I	V	-	1	0	FCRL2	156012204	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.453000	0.02383	-1.704000	0.01407	0.655000	0.94253	GTC		0.428	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2		NM_030764		12	40	0	0	0	0.007413	0	12	40		
VSIG8	391123	broad.mit.edu	37	1	159827692	159827692	+	Silent	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:159827692C>A	ENST00000368100.1	-	4	630	c.495G>T	c.(493-495)ctG>ctT	p.L165L	C1orf204_ENST00000491974.1_5'Flank|C1orf204_ENST00000368102.1_5'Flank	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	165	Ig-like V-type 2.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)	p.L165L(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					CATAGCACTTCAGCACCACAT	0.592																																						uc001fuh.2		NaN																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(493-495)CTG>CTT		V-set and immunoglobulin domain containing 8							75.0	68.0	70.0					1																	159827692		2203	4300	6503	SO:0001819	synonymous_variant	391123					integral to membrane		g.chr1:159827692C>A		CCDS30913.1	1q23.2	2013-01-11			ENSG00000243284	ENSG00000243284		"""Immunoglobulin superfamily / V-set domain containing"""	32063	protein-coding gene	gene with protein product							Standard	NM_001013661		Approved		uc001fuh.3	Q5VU13	OTTHUMG00000168834	ENST00000368100.1:c.495G>T	1.37:g.159827692C>A						C1orf204_uc001fuf.1_5'Flank|C1orf204_uc001fug.1_5'Flank	p.L165L	NM_001013661	NP_001013683	Q5VU13	VSIG8_HUMAN			4	631	-	all_hematologic(112;0.0597)		165			Extracellular (Potential).|Ig-like V-type 2.		Q5VU14	Silent	SNP	ENST00000368100.1	37	c.495G>T	CCDS30913.1																																																																																				0.592	VSIG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085978.8		NM_001013661		11	38	1	0	0.00010058	0.013537	0.000104042	11	38		
PVRL4	81607	broad.mit.edu	37	1	161044087	161044087	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:161044087G>C	ENST00000368012.3	-	6	1379	c.1077C>G	c.(1075-1077)ctC>ctG	p.L359L	PVRL4_ENST00000486694.1_5'Flank|PVRL4_ENST00000453926.2_Silent_p.L93L	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	359					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGCAGAACAAGAGTGCGGCGA	0.602																																					NSCLC(76;1160 1387 14476 16172 29359)	uc001fxo.2		NaN																	0				ovary(2)	2						c.(1075-1077)CTC>CTG		poliovirus receptor-related 4 precursor							235.0	205.0	215.0					1																	161044087		2203	4300	6503	SO:0001819	synonymous_variant	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161044087G>C	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1077C>G	1.37:g.161044087G>C						PVRL4_uc010pjy.1_Silent_p.L38L|PVRL4_uc010pjz.1_Silent_p.L93L	p.L359L	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		6	1376	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		359			Helical; (Potential).		B4DQW3|Q96K15	Silent	SNP	ENST00000368012.3	37	c.1077C>G	CCDS1216.1																																																																																				0.602	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1		NM_030916		40	77	0	0	0	0.01441	0	40	77		
GPA33	10223	broad.mit.edu	37	1	167059489	167059489	+	Silent	SNP	G	G	C	rs145486614		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:167059489G>C	ENST00000367868.3	-	1	379	c.36C>G	c.(34-36)ctC>ctG	p.L12L		NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	12						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CACCTGCACAGAGTGTCCACA	0.582																																						uc001gea.1		NaN																	0					0						c.(34-36)CTC>CTG		transmembrane glycoprotein A33 precursor							236.0	162.0	187.0					1																	167059489		2203	4300	6503	SO:0001819	synonymous_variant	10223					integral to plasma membrane	receptor activity	g.chr1:167059489G>C	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.36C>G	1.37:g.167059489G>C							p.L12L	NM_005814	NP_005805	Q99795	GPA33_HUMAN			1	380	-			12					Q5VZP6	Silent	SNP	ENST00000367868.3	37	c.36C>G	CCDS1258.1																																																																																				0.582	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1		NM_005814		11	33	0	0	0	0.001855	0	11	33		
FMO3	2328	broad.mit.edu	37	1	171076861	171076861	+	Missense_Mutation	SNP	G	G	A	rs113006768		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:171076861G>A	ENST00000367755.4	+	4	478	c.367G>A	c.(367-369)Ggc>Agc	p.G123S	FMO3_ENST00000392085.2_Missense_Mutation_p.G123S|FMO3_ENST00000542847.1_Missense_Mutation_p.G103S|FMO3_ENST00000538429.1_Missense_Mutation_p.G60S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	123					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TGCAACTACTGGCCAGTGGGA	0.403																																						uc001ghi.2		NaN																	0				skin(1)	1						c.(367-369)GGC>AGC		flavin containing monooxygenase 3							121.0	119.0	120.0					1																	171076861		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171076861G>A	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.367G>A	1.37:g.171076861G>A	ENSP00000356729:p.Gly123Ser					FMO3_uc001ghh.2_Missense_Mutation_p.G123S|FMO3_uc010pmb.1_Missense_Mutation_p.G103S|FMO3_uc010pmc.1_Missense_Mutation_p.G60S	p.G123S	NM_001002294	NP_001002294	P31513	FMO3_HUMAN			4	478	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		123					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.367G>A	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482116	0.63849	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	4.84	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.78616	0.4311	M	0.86740	2.835	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.997;0.996	D;D;D	0.97110	1.0;0.976;0.975	T	0.82778	-0.0289	10	0.72032	D	0.01	-9.8039	12.6646	0.56835	0.0814:0.0:0.9186:0.0	.	60;103;123	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	S	123;123;103;60	ENSP00000356729:G123S;ENSP00000375935:G123S;ENSP00000444073:G103S;ENSP00000439500:G60S	ENSP00000356729:G123S	G	+	1	0	FMO3	169343485	1.000000	0.71417	0.749000	0.31150	0.030000	0.12068	9.864000	0.99589	1.011000	0.39340	0.591000	0.81541	GGC		0.403	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1		NM_006894		25	64	0	0	0	0.009535	0	25	64		
RNASEL	6041	broad.mit.edu	37	1	182555827	182555827	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:182555827C>G	ENST00000367559.3	-	2	368	c.115G>C	c.(115-117)Gac>Cac	p.D39H	RNASEL_ENST00000539397.1_Missense_Mutation_p.D39H|RNASEL_ENST00000444138.1_Missense_Mutation_p.D39H	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	39					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TGGACCAGGTCAACATCTTCG	0.512																																						uc001gpj.1		NaN																	0				ovary(4)|stomach(1)	5						c.(115-117)GAC>CAC		ribonuclease L							119.0	113.0	115.0					1																	182555827		2203	4300	6503	SO:0001583	missense	6041	Hereditary_Prostate_Cancer			mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182555827C>G	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.115G>C	1.37:g.182555827C>G	ENSP00000356530:p.Asp39His					RNASEL_uc009wxz.1_Missense_Mutation_p.D39H|RNASEL_uc001gpk.2_Missense_Mutation_p.D39H|RNASEL_uc009wya.1_Missense_Mutation_p.D39H	p.D39H	NM_021133	NP_066956	Q05823	RN5A_HUMAN			1	282	-			39			ANK 1.		Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	c.115G>C	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.706110	0.30232	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.66638	-0.22;-0.22;-0.22	4.71	-0.725	0.11174	Ankyrin repeat-containing domain (3);	1.333350	0.04993	N	0.467729	T	0.56746	0.2006	N	0.22421	0.69	0.09310	N	1	B;B;B	0.32893	0.389;0.2;0.228	B;B;B	0.38264	0.269;0.118;0.085	T	0.54735	-0.8249	10	0.66056	D	0.02	-1.8348	9.1041	0.36687	0.0:0.5973:0.0:0.4027	.	39;39;39	Q5W0L2;Q6AI46;Q05823	.;.;RN5A_HUMAN	H	39	ENSP00000356530:D39H;ENSP00000411147:D39H;ENSP00000440844:D39H	ENSP00000356530:D39H	D	-	1	0	RNASEL	180822450	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.968000	0.03817	-0.088000	0.12506	0.467000	0.42956	GAC		0.512	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1		NM_021133		30	119	0	0	0	0.012213	0	30	119		
EDEM3	80267	broad.mit.edu	37	1	184680990	184680990	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:184680990C>T	ENST00000318130.8	-	15	1824	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	EDEM3_ENST00000367512.3_Missense_Mutation_p.D477N|EDEM3_ENST00000466392.1_5'Flank	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	520					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTACTGTCATCCAGTTCTGTA	0.323																																						uc010pok.1		NaN																	0				skin(1)	1						c.(1558-1560)GAT>AAT		ER degradation enhancer, mannosidase alpha-like							79.0	74.0	75.0					1																	184680990		2203	4300	6503	SO:0001583	missense	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184680990C>T	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.1558G>A	1.37:g.184680990C>T	ENSP00000318147:p.Asp520Asn					EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.D520N	p.D520N	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN			15	1819	-			520					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	ENST00000318130.8	37	c.1558G>A	CCDS1363.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396473	0.83011	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.73047	-0.71;-0.69	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.68155	0.2970	L	0.50333	1.59	0.80722	D	1	B	0.21147	0.052	B	0.24006	0.05	T	0.61589	-0.7032	9	.	.	.	.	19.8807	0.96899	0.0:1.0:0.0:0.0	.	520	Q9BZQ6	EDEM3_HUMAN	N	520;477	ENSP00000318147:D520N;ENSP00000356482:D477N	.	D	-	1	0	EDEM3	182947613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.711000	0.84669	2.698000	0.92095	0.655000	0.94253	GAT		0.323	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3		NM_025191		9	33	0	0	0	0.008291	0	9	33		
ATP2B4	493	broad.mit.edu	37	1	203696675	203696675	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:203696675G>A	ENST00000357681.5	+	20	4408	c.3285G>A	c.(3283-3285)cgG>cgA	p.R1095R	ATP2B4_ENST00000367218.3_Silent_p.R1095R|ATP2B4_ENST00000367219.3_Silent_p.R1083R|ATP2B4_ENST00000391954.2_Silent_p.R1059R|ATP2B4_ENST00000466407.1_3'UTR|ATP2B4_ENST00000341360.2_Silent_p.R1095R|SNORA77_ENST00000408716.1_RNA	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1095	Calmodulin-binding subdomain A.				blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCTGGTTCCGGGGCCTGAACC	0.562																																						uc001gzw.2		NaN																	0				ovary(2)|skin(1)	3						c.(3283-3285)CGG>CGA		plasma membrane calcium ATPase 4 isoform 4b							134.0	121.0	126.0					1																	203696675		2203	4300	6503	SO:0001819	synonymous_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203696675G>A	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.3285G>A	1.37:g.203696675G>A						ATP2B4_uc001gzv.2_Silent_p.R1095R|ATP2B4_uc009xaq.2_Silent_p.R1095R|ATP2B4_uc001gzx.2_Silent_p.R126R|ATP2B4_uc009xar.2_Silent_p.R90R|ATP2B4_uc010pqj.1_5'Flank|uc010pqk.1_5'Flank|SNORA77_uc001gzy.1_5'Flank	p.R1095R	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		20	4169	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		1095			Cytoplasmic (Potential).|Calmodulin-binding subdomain A.		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	ENST00000357681.5	37	c.3285G>A	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486967	0.26686	.	.	ENSG00000058668	ENST00000458092;ENST00000356729	.	.	.	5.77	-2.43	0.06522	.	.	.	.	.	T	0.41880	0.1178	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31024	-0.9958	4	.	.	.	-17.7075	3.275	0.06896	0.4715:0.1046:0.3119:0.112	.	.	.	.	E	82;60	.	.	G	+	2	0	ATP2B4	201963298	0.999000	0.42202	0.982000	0.44146	0.993000	0.82548	0.679000	0.25291	-0.450000	0.07107	-0.367000	0.07326	GGG		0.562	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1		NM_001001396		39	69	0	0	0	0.01441	0	39	69		
CDK18	5129	broad.mit.edu	37	1	205492648	205492648	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:205492648G>A	ENST00000360066.2	+	3	469	c.168G>A	c.(166-168)caG>caA	p.Q56Q	CDK18_ENST00000506784.1_Silent_p.Q56Q|CDK18_ENST00000509056.1_Intron|CDK18_ENST00000429964.2_Silent_p.Q56Q	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	54							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						ACCCCCCGCAGGAGTGCAGCA	0.667																																					Pancreas(180;489 2072 28461 40831 44265)	uc001hcr.2		NaN																	0		p.Q56*(1)		stomach(2)	2						c.(166-168)CAG>CAA		PCTAIRE protein kinase 3 isoform a							11.0	13.0	13.0					1																	205492648		2198	4292	6490	SO:0001819	synonymous_variant	5129						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	g.chr1:205492648G>A	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.168G>A	1.37:g.205492648G>A						CDK18_uc009xbk.1_RNA|CDK18_uc009xbl.1_RNA|CDK18_uc010pri.1_Missense_Mutation_p.G77R|CDK18_uc001hcp.2_Silent_p.Q56Q|CDK18_uc001hcq.2_Silent_p.Q56Q|CDK18_uc010prj.1_5'UTR|CDK18_uc001hcs.2_5'UTR|CDK18_uc009xbm.1_5'UTR	p.Q56Q	NM_212503	NP_997668	Q07002	CDK18_HUMAN			3	387	+			54					Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Silent	SNP	ENST00000360066.2	37	c.168G>A	CCDS44300.1																																																																																				0.667	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2		NM_002596		3	19	0	0	0	0.009096	0	3	19		
YOD1	55432	broad.mit.edu	37	1	207222498	207222498	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:207222498C>G	ENST00000315927.4	-	2	960	c.914G>C	c.(913-915)aGa>aCa	p.R305T	YOD1_ENST00000367084.1_Missense_Mutation_p.R261T|PFKFB2_ENST00000411990.2_5'Flank|YOD1_ENST00000391927.1_Missense_Mutation_p.R261T	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	305					cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					TCTCCTTCTTCTAGCTTCATC	0.443																																						uc001hfe.1		NaN																	0				lung(1)	1						c.(913-915)AGA>ACA		YOD1 OTU deubiquinating enzyme 1 homolog							233.0	218.0	223.0					1																	207222498		2203	4300	6503	SO:0001583	missense	55432				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding	g.chr1:207222498C>G		CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"""OTU domain containing"""	25035	protein-coding gene	gene with protein product		612023	"""YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)"", ""YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"""				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.914G>C	1.37:g.207222498C>G	ENSP00000326813:p.Arg305Thr					PFKFB2_uc010psc.1_Intron|YOD1_uc001hff.1_Missense_Mutation_p.R261T	p.R305T	NM_018566	NP_061036	Q5VVQ6	OTU1_HUMAN			2	961	-	Prostate(682;0.19)		305					B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Missense_Mutation	SNP	ENST00000315927.4	37	c.914G>C	CCDS31002.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.850752	0.51270	.	.	ENSG00000180667	ENST00000367084;ENST00000315927;ENST00000391927	.	.	.	6.17	5.21	0.72293	.	0.043549	0.85682	D	0.000000	T	0.57504	0.2058	M	0.72353	2.195	0.58432	D	0.999999	P;P	0.41366	0.675;0.747	B;B	0.40375	0.265;0.327	T	0.62567	-0.6827	9	0.66056	D	0.02	-9.0114	10.5563	0.45118	0.0:0.7922:0.1298:0.078	.	261;305	Q5VVQ6-2;Q5VVQ6	.;OTU1_HUMAN	T	261;305;261	.	ENSP00000326813:R305T	R	-	2	0	YOD1	205289121	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.785000	0.62418	1.491000	0.48482	0.655000	0.94253	AGA		0.443	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1		NM_018566		56	135	0	0	0	0.01441	0	56	135		
INTS7	25896	broad.mit.edu	37	1	212190291	212190291	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:212190291G>A	ENST00000366994.3	-	4	550	c.446C>T	c.(445-447)tCa>tTa	p.S149L	INTS7_ENST00000366993.3_Missense_Mutation_p.S149L|INTS7_ENST00000440600.2_Missense_Mutation_p.S100L|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.S149L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	149					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ATTATCATGTGAATCTAAACT	0.388																																						uc001hiw.1		NaN																	0					0						c.(445-447)TCA>TTA		integrator complex subunit 7							168.0	168.0	168.0					1																	212190291		2203	4300	6503	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212190291G>A	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.446C>T	1.37:g.212190291G>A	ENSP00000355961:p.Ser149Leu					INTS7_uc009xdb.1_Missense_Mutation_p.S149L|INTS7_uc001hix.1_Missense_Mutation_p.S25L|INTS7_uc001hiy.1_Missense_Mutation_p.S149L|INTS7_uc010pta.1_Missense_Mutation_p.S100L	p.S149L	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	4	551	-			149					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.446C>T	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	G	35	5.525345	0.96431	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.70631	-0.36;-0.36;-0.36;-0.5	5.88	5.88	0.94601	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85801	0.5781	M	0.79693	2.465	0.80722	D	1	D;D;D;D	0.61080	0.989;0.989;0.989;0.989	D;D;D;D	0.75020	0.985;0.985;0.985;0.985	D	0.86481	0.1791	10	0.87932	D	0	-17.7119	20.2279	0.98344	0.0:0.0:1.0:0.0	.	100;149;149;149	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	L	149;149;149;100	ENSP00000355961:S149L;ENSP00000355960:S149L;ENSP00000355959:S149L;ENSP00000388908:S100L	ENSP00000355959:S149L	S	-	2	0	INTS7	210256914	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.342000	0.97044	2.778000	0.95560	0.655000	0.94253	TCA		0.388	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1		NM_015434		31	71	0	0	0	0.013726	0	31	71		
HHIPL2	79802	broad.mit.edu	37	1	222715388	222715388	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:222715388C>G	ENST00000343410.6	-	3	1142	c.1084G>C	c.(1084-1086)Gat>Cat	p.D362H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	362					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCAAAGGGATCTCCAGCCTGT	0.532																																						uc001hnh.1		NaN																	0				ovary(1)	1						c.(1084-1086)GAT>CAT		HHIP-like 2 precursor							67.0	66.0	66.0					1																	222715388		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222715388C>G	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1084G>C	1.37:g.222715388C>G	ENSP00000342118:p.Asp362His						p.D362H	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	3	1142	-			362					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.1084G>C	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934041	0.73442	.	.	ENSG00000143512	ENST00000343410	T	0.12147	2.71	5.63	3.76	0.43208	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.251014	0.43260	D	0.000585	T	0.39279	0.1072	M	0.85197	2.74	0.47584	D	0.999467	D	0.76494	0.999	D	0.74348	0.983	T	0.34104	-0.9842	10	0.87932	D	0	-17.3672	11.8365	0.52327	0.0:0.8565:0.0:0.1435	.	362	Q6UWX4	HIPL2_HUMAN	H	362	ENSP00000342118:D362H	ENSP00000342118:D362H	D	-	1	0	HHIPL2	220782011	1.000000	0.71417	0.900000	0.35374	0.750000	0.42670	4.580000	0.60942	0.722000	0.32252	0.591000	0.81541	GAT		0.532	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2		NM_024746		19	57	0	0	0	0.008871	0	19	57		
HHIPL2	79802	broad.mit.edu	37	1	222716949	222716949	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:222716949C>G	ENST00000343410.6	-	2	962	c.904G>C	c.(904-906)Gaa>Caa	p.E302Q		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	302					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CGGATCTTTTCTACCTTCTTC	0.468																																						uc001hnh.1		NaN																	0				ovary(1)	1						c.(904-906)GAA>CAA		HHIP-like 2 precursor							216.0	242.0	233.0					1																	222716949		2203	4300	6503	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222716949C>G	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.904G>C	1.37:g.222716949C>G	ENSP00000342118:p.Glu302Gln						p.E302Q	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	962	-			302					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.904G>C	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287162	0.80803	.	.	ENSG00000143512	ENST00000343410	T	0.14022	2.54	5.36	5.36	0.76844	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.20901	0.0503	N	0.20986	0.625	0.58432	D	0.999999	D	0.60575	0.988	P	0.58391	0.838	T	0.03268	-1.1054	10	0.25106	T	0.35	-28.4224	18.6837	0.91556	0.0:1.0:0.0:0.0	.	302	Q6UWX4	HIPL2_HUMAN	Q	302	ENSP00000342118:E302Q	ENSP00000342118:E302Q	E	-	1	0	HHIPL2	220783572	1.000000	0.71417	0.962000	0.40283	0.992000	0.81027	4.458000	0.60095	2.489000	0.83994	0.591000	0.81541	GAA		0.468	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2		NM_024746		84	231	0	0	0	0.01441	0	84	231		
HHIPL2	79802	broad.mit.edu	37	1	222717298	222717298	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:222717298C>T	ENST00000343410.6	-	2	613	c.555G>A	c.(553-555)ctG>ctA	p.L185L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	185					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AGTCGTTCCTCAGGACATTAG	0.612																																						uc001hnh.1		NaN																	0				ovary(1)	1						c.(553-555)CTG>CTA		HHIP-like 2 precursor							63.0	70.0	68.0					1																	222717298		2203	4300	6503	SO:0001819	synonymous_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222717298C>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.555G>A	1.37:g.222717298C>T							p.L185L	NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	613	-			185					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	c.555G>A	CCDS1530.2																																																																																				0.612	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2		NM_024746		22	50	0	0	0	0.016522	0	22	50		
FBXO28	23219	broad.mit.edu	37	1	224321837	224321837	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:224321837G>C	ENST00000366862.5	+	3	482	c.439G>C	c.(439-441)Gaa>Caa	p.E147Q	FBXO28_ENST00000424254.2_Missense_Mutation_p.E147Q	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	147										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		TGCTGCTGTTGAAACAAGGCT	0.358																																						uc001hoh.2		NaN																	0				ovary(2)|kidney(2)|lung(1)	5						c.(439-441)GAA>CAA		F-box protein 28 isoform a							91.0	82.0	85.0					1																	224321837		2203	4300	6503	SO:0001583	missense	23219							g.chr1:224321837G>C	AK001628	CCDS1539.1, CCDS44320.1	1q42.12	2011-08-12			ENSG00000143756	ENSG00000143756		"""F-boxes /  ""other"""""	29046	protein-coding gene	gene with protein product	"""centromere protein 30"""	609100				9455484	Standard	NM_015176		Approved	FLJ10766, KIAA0483, Fbx28, CENP-30	uc001hoh.3	Q9NVF7	OTTHUMG00000037495	ENST00000366862.5:c.439G>C	1.37:g.224321837G>C	ENSP00000355827:p.Glu147Gln					FBXO28_uc009xef.2_Missense_Mutation_p.E147Q|FBXO28_uc010pvc.1_Intron	p.E147Q	NM_015176	NP_055991	Q9NVF7	FBX28_HUMAN		GBM - Glioblastoma multiforme(131;0.0363)	3	480	+	Breast(184;0.206)		147					E9PEM8|O75070	Missense_Mutation	SNP	ENST00000366862.5	37	c.439G>C	CCDS1539.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987435	0.93106	.	.	ENSG00000143756	ENST00000366862;ENST00000424254	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.78355	0.4270	M	0.69523	2.12	0.80722	D	1	D;D	0.69078	0.997;0.993	D;D	0.75484	0.986;0.968	T	0.75082	-0.3443	9	0.31617	T	0.26	-20.118	18.6289	0.91352	0.0:0.0:1.0:0.0	.	147;147	E9PEM8;Q9NVF7	.;FBX28_HUMAN	Q	147	.	ENSP00000355827:E147Q	E	+	1	0	FBXO28	222388460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.466000	0.97665	2.623000	0.88846	0.557000	0.71058	GAA		0.358	FBXO28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091283.2		NM_015176		9	25	0	0	0	0.004482	0	9	25		
PARP1	142	broad.mit.edu	37	1	226595555	226595555	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:226595555C>G	ENST00000366794.5	-	1	219	c.76G>C	c.(76-78)Gag>Cag	p.E26Q	PARP1_ENST00000366792.1_Missense_Mutation_p.E26Q|PARP1_ENST00000366790.3_Missense_Mutation_p.E26Q|PARP1_ENST00000366791.5_Missense_Mutation_p.E26Q	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	26					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGGATGCTCTCGCTGCATTTC	0.667								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														uc001hqd.3		NaN																	0				lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10						c.(76-78)GAG>CAG	Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA	poly (ADP-ribose) polymerase family, member 1							25.0	23.0	24.0					1																	226595555		2201	4300	6501	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226595555C>G	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.76G>C	1.37:g.226595555C>G	ENSP00000355759:p.Glu26Gln						p.E26Q	NM_001618	NP_001609	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	1	247	-	Breast(184;0.133)		26			PARP-type 1.|		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.76G>C	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512888	0.44660	.	.	ENSG00000143799	ENST00000432338;ENST00000366794;ENST00000366792;ENST00000366791;ENST00000366790	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	3.73	2.8	0.32819	Zinc finger, PARP-type (4);	0.111526	0.64402	D	0.000012	T	0.18509	0.0444	N	0.13299	0.325	0.58432	D	0.999999	B	0.32939	0.391	B	0.34536	0.185	T	0.06807	-1.0806	10	0.38643	T	0.18	.	11.4073	0.49904	0.0:0.9091:0.0:0.0909	.	26	P09874	PARP1_HUMAN	Q	26	ENSP00000355759:E26Q;ENSP00000355757:E26Q;ENSP00000355756:E26Q;ENSP00000355755:E26Q	ENSP00000355755:E26Q	E	-	1	0	PARP1	224662178	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	6.374000	0.73132	0.882000	0.36016	0.297000	0.19635	GAG		0.667	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1		NM_001618		3	17	0	0	0	0.004672	0	3	17		
SPRTN	83932	broad.mit.edu	37	1	231474322	231474322	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:231474322G>C	ENST00000295050.7	+	1	529	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	EXOC8_ENST00000366645.1_5'Flank|SPRTN_ENST00000008440.9_Missense_Mutation_p.E65Q|EXOC8_ENST00000360394.2_5'Flank|SPRTN_ENST00000391858.4_Missense_Mutation_p.E65Q	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	65	SprT-like.				cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)										GGAGGCCGTCGAGGTGAAGTG	0.617																																						uc001hur.2		NaN																	0					0						c.(193-195)GAG>CAG		hypothetical protein LOC83932 isoform a							94.0	101.0	99.0					1																	231474322		2203	4300	6503	SO:0001583	missense	83932				DNA repair	nuclear speck	DNA binding|metal ion binding	g.chr1:231474322G>C	AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"""SprT-like domain at the N terminus"", ""DNA damage-targeting VCP (p97) adaptor"""		"""chromosome 1 open reading frame 124"""	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.193G>C	1.37:g.231474322G>C	ENSP00000295050:p.Glu65Gln					EXOC8_uc001huq.2_5'Flank|C1orf124_uc001hus.2_Missense_Mutation_p.E65Q|C1orf124_uc001hut.2_Missense_Mutation_p.E65Q	p.E65Q	NM_032018	NP_114407	Q9H040	CA124_HUMAN			1	641	+	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	65					B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Missense_Mutation	SNP	ENST00000295050.7	37	c.193G>C	CCDS1594.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421117	0.83559	.	.	ENSG00000010072	ENST00000391858;ENST00000295050;ENST00000008440;ENST00000545269	T;T;T	0.45668	0.89;0.89;0.89	4.93	4.93	0.64822	Domain of unknown function SprT-like (2);	0.000000	0.85682	D	0.000000	T	0.55673	0.1935	L	0.49778	1.585	0.54753	D	0.999988	D;P;P	0.89917	1.0;0.771;0.791	D;B;P	0.74674	0.984;0.438;0.715	T	0.48068	-0.9067	10	0.30078	T	0.28	-29.1642	13.6723	0.62432	0.0766:0.0:0.9234:0.0	.	65;65;65	B1AKT0;Q9H040-2;Q9H040	.;.;CA124_HUMAN	Q	65	ENSP00000375731:E65Q;ENSP00000295050:E65Q;ENSP00000008440:E65Q	ENSP00000008440:E65Q	E	+	1	0	C1orf124	229540945	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.160000	0.77495	2.567000	0.86603	0.462000	0.41574	GAG		0.617	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092858.1		NM_032018		32	133	0	0	0	0.004289	0	32	133		
LYST	1130	broad.mit.edu	37	1	235894422	235894422	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:235894422C>T	ENST00000389794.3	-	35	9031	c.8857G>A	c.(8857-8859)Gaa>Aaa	p.E2953K	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.E2953K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2953					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTGGCCCTTCTGTTGGATCC	0.408																																						uc001hxj.2		NaN																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(8857-8859)GAA>AAA		lysosomal trafficking regulator							119.0	118.0	119.0					1																	235894422		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235894422C>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.8857G>A	1.37:g.235894422C>T	ENSP00000374444:p.Glu2953Lys					LYST_uc001hxi.2_Missense_Mutation_p.E177K	p.E2953K	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		35	9032	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2953					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.8857G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	36	5.628114	0.96671	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.71222	-0.55;-0.55	5.61	5.61	0.85477	.	0.044760	0.85682	D	0.000000	D	0.83243	0.5212	M	0.78049	2.395	0.80722	D	1	D	0.65815	0.995	P	0.58970	0.849	D	0.85102	0.0958	10	0.87932	D	0	.	19.6351	0.95728	0.0:1.0:0.0:0.0	.	2953	Q99698	LYST_HUMAN	K	2953	ENSP00000374444:E2953K;ENSP00000374443:E2953K	ENSP00000374443:E2953K	E	-	1	0	LYST	233961045	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.487000	0.81328	2.625000	0.88918	0.591000	0.81541	GAA		0.408	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5				21	35	0	0	0	0.012319	0	21	35		
OR2T11	127077	broad.mit.edu	37	1	248790334	248790334	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:248790334G>C	ENST00000330803.2	-	1	157	c.96C>G	c.(94-96)ttC>ttG	p.F32L		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			CGGCCCCCAAGAAAACAGCAA	0.498																																						uc001ier.1		NaN																	0				lung(1)	1						c.(94-96)TTC>TTG		olfactory receptor, family 2, subfamily T,							60.0	70.0	66.0					1																	248790334		2048	4237	6285	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248790334G>C	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.96C>G	1.37:g.248790334G>C	ENSP00000328934:p.Phe32Leu						p.F32L	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	96	-	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)		32			Helical; Name=1; (Potential).		Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.96C>G	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	13.03	2.116698	0.37339	.	.	ENSG00000183130	ENST00000330803	T	0.04234	3.67	4.62	-9.25	0.00666	.	0.000000	0.43260	D	0.000599	T	0.08891	0.0220	M	0.83483	2.645	0.09310	N	1	B	0.13145	0.007	B	0.20384	0.029	T	0.18999	-1.0319	10	0.66056	D	0.02	.	20.8371	0.99724	0.1925:0.0:0.8075:0.0	.	32	Q8NH01	O2T11_HUMAN	L	32	ENSP00000328934:F32L	ENSP00000328934:F32L	F	-	3	2	OR2T11	246856957	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.084000	0.03393	-2.451000	0.00543	-0.290000	0.09829	TTC		0.498	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1		NM_001001964		41	81	0	0	0	0.006999	0	41	81		
OPTN	10133	broad.mit.edu	37	10	13164440	13164440	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:13164440G>C	ENST00000378748.3	+	9	1197	c.835G>C	c.(835-837)Gag>Cag	p.E279Q	OPTN_ENST00000378747.3_Missense_Mutation_p.E279Q|OPTN_ENST00000263036.5_Missense_Mutation_p.E279Q|OPTN_ENST00000378757.2_Missense_Mutation_p.E279Q|OPTN_ENST00000378764.2_Missense_Mutation_p.E273Q|OPTN_ENST00000378752.3_Missense_Mutation_p.E273Q	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	279					cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AACCCAGACAGAGGGGAGCAC	0.433																																						uc001ilu.1		NaN																	0				ovary(2)	2						c.(835-837)GAG>CAG		optineurin							65.0	72.0	69.0					10																	13164440		2203	4300	6503	SO:0001583	missense	10133				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding	g.chr10:13164440G>C	AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"""glaucoma 1, open angle, E (adult-onset)"""	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.835G>C	10.37:g.13164440G>C	ENSP00000368022:p.Glu279Gln					OPTN_uc001ilv.1_Missense_Mutation_p.E279Q|OPTN_uc001ilw.1_Missense_Mutation_p.E279Q|OPTN_uc001ilx.1_Missense_Mutation_p.E279Q|OPTN_uc001ily.1_Missense_Mutation_p.E273Q|OPTN_uc010qbr.1_Missense_Mutation_p.E222Q|OPTN_uc001ilz.1_Missense_Mutation_p.E273Q	p.E279Q	NM_001008213	NP_001008214	Q96CV9	OPTN_HUMAN			9	1273	+			279			Potential.		B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	ENST00000378748.3	37	c.835G>C	CCDS7094.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.37|10.37	1.330564|1.330564	0.24167|0.24167	.|.	.|.	ENSG00000123240|ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000378747|ENST00000424614	D;D;D;D;D;D|.	0.88509|.	-2.38;-2.39;-2.38;-2.39;-2.38;-2.38|.	5.83|5.83	4.93|4.93	0.64822|0.64822	.|.	0.440582|.	0.25695|.	N|.	0.028908|.	T|T	0.55305|0.55305	0.1912|0.1912	M|M	0.66939|0.66939	2.045|2.045	0.30543|0.30543	N|N	0.766222|0.766222	B;B|.	0.25105|.	0.115;0.118|.	B;B|.	0.31614|.	0.133;0.111|.	T|T	0.58814|0.58814	-0.7570|-0.7570	10|5	0.33940|.	T|.	0.23|.	-11.5262|-11.5262	10.6736|10.6736	0.45772|0.45772	0.087:0.0:0.913:0.0|0.087:0.0:0.913:0.0	.|.	273;279|.	Q96CV9-2;Q96CV9|.	.;OPTN_HUMAN|.	Q|H	279;273;279;273;279;279|94	ENSP00000263036:E279Q;ENSP00000368040:E273Q;ENSP00000368032:E279Q;ENSP00000368027:E273Q;ENSP00000368022:E279Q;ENSP00000368021:E279Q|.	ENSP00000263036:E279Q|.	E|Q	+|+	1|3	0|2	OPTN|OPTN	13204446|13204446	1.000000|1.000000	0.71417|0.71417	0.924000|0.924000	0.36721|0.36721	0.185000|0.185000	0.23345|0.23345	3.284000|3.284000	0.51708|0.51708	1.475000|1.475000	0.48197|0.48197	0.650000|0.650000	0.86243|0.86243	GAG|CAG		0.433	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046834.1		NM_021980		14	63	0	0	0	0.004007	0	14	63		
CDNF	441549	broad.mit.edu	37	10	14870191	14870191	+	5'UTR	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:14870191C>G	ENST00000378442.1	-	0	393				CDNF_ENST00000378441.2_5'UTR			Q49AH0	CDNF_HUMAN	cerebral dopamine neurotrophic factor							extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(1)	5						CTGATCAATTCTTTCTCTATA	0.363																																						uc001inb.1		NaN																	0					0						c.(196-198)GAA>CAA		arginine-rich, mutated in early stage							160.0	158.0	159.0					10																	14870191		2203	4300	6503	SO:0001623	5_prime_UTR_variant	441549					extracellular region	growth factor activity	g.chr10:14870191C>G	BC037872	CCDS31148.1	10p13	2009-06-04	2009-06-04	2009-06-04	ENSG00000185267	ENSG00000185267			24913	protein-coding gene	gene with protein product	"""conserved dopamine neurotrophic factor"""	611233	"""arginine-rich, mutated in early stage tumors-like 1"""	ARMETL1		17611540	Standard	NM_001029954		Approved		uc001inb.1	Q49AH0	OTTHUMG00000017713	ENST00000378442.1:c.-111G>C	10.37:g.14870191C>G						CDNF_uc010qbv.1_Missense_Mutation_p.E66Q|CDNF_uc001inc.1_5'UTR	p.E66Q	NM_001029954	NP_001025125	Q49AH0	CDNF_HUMAN			2	234	-			66					A2RUU0|B4DVW3	Missense_Mutation	SNP	ENST00000378442.1	37	c.196G>C		.	.	.	.	.	.	.	.	.	.	c	18.46	3.628126	0.66901	.	.	ENSG00000185267	ENST00000465530	.	.	.	5.52	4.62	0.57501	.	0.056888	0.64402	D	0.000003	T	0.71634	0.3363	M	0.69185	2.1	0.33814	D	0.628194	D	0.76494	0.999	D	0.77004	0.989	T	0.77544	-0.2548	9	0.27082	T	0.32	-25.5576	13.8589	0.63548	0.0:0.9249:0.0:0.0751	.	66	Q49AH0	CDNF_HUMAN	Q	66	.	ENSP00000419395:E66Q	E	-	1	0	CDNF	14910197	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	4.257000	0.58816	1.484000	0.48361	-0.185000	0.12909	GAA		0.363	CDNF-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000046919.1		NM_001029954		20	83	0	0	0	0.010504	0	20	83		
ACBD7	414149	broad.mit.edu	37	10	15120550	15120550	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:15120550C>G	ENST00000356189.5	-	4	293	c.246G>C	c.(244-246)ctG>ctC	p.L82L	ACBD7_ENST00000496890.1_5'UTR	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN	acyl-CoA binding domain containing 7	82	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.						fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			endometrium(1)|lung(4)|prostate(1)	6						ATTTTTCTATCAGCTCCTTTG	0.398																																						uc001inv.2		NaN																	0					0						c.(244-246)CTG>CTC		acyl-Coenzyme A binding domain containing 7							145.0	151.0	149.0					10																	15120550		2203	4300	6503	SO:0001819	synonymous_variant	414149						fatty-acyl-CoA binding	g.chr10:15120550C>G	AK095538	CCDS31153.1	10p13	2010-08-05	2010-04-30		ENSG00000176244	ENSG00000176244			17715	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 7"""				Standard	NM_001039844		Approved	FLJ38219, bA455B2.2	uc010qby.1	Q8N6N7	OTTHUMG00000017725	ENST00000356189.5:c.246G>C	10.37:g.15120550C>G						ACBD7_uc010qby.1_Intron	p.L82L	NM_001039844	NP_001034933	Q8N6N7	ACBD7_HUMAN			4	294	-			82			ACB.		A6NCI2|B3KTG8	Silent	SNP	ENST00000356189.5	37	c.246G>C	CCDS31153.1																																																																																				0.398	ACBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046972.2				21	93	0	0	0	0.005443	0	21	93		
LYZL2	119180	broad.mit.edu	37	10	30901786	30901786	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:30901786C>G	ENST00000375318.2	-	4	536	c.480G>C	c.(478-480)aaG>aaC	p.K160N		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	114					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				TAACAATTTTCTTGGCACAGA	0.443																																						uc001ivk.2		NaN																	0					0						c.(478-480)AAG>AAC		lysozyme-like 2							140.0	116.0	124.0					10																	30901786		2203	4300	6503	SO:0001583	missense	119180				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:30901786C>G	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.480G>C	10.37:g.30901786C>G	ENSP00000364467:p.Lys160Asn						p.K160N	NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN			4	493	-		Prostate(175;0.151)	114					Q6NZ69	Missense_Mutation	SNP	ENST00000375318.2	37	c.480G>C	CCDS7167.2	.	.	.	.	.	.	.	.	.	.	C	13.80	2.343964	0.41498	.	.	ENSG00000151033	ENST00000375318	T	0.73897	-0.79	2.06	2.06	0.26882	.	0.129533	0.49305	D	0.000147	D	0.83234	0.5210	M	0.87381	2.88	0.26485	N	0.97505	P	0.51791	0.948	P	0.60886	0.88	T	0.73372	-0.4003	10	0.87932	D	0	-16.0167	7.6386	0.28280	0.0:1.0:0.0:0.0	.	160	Q7Z4W2-2	.	N	160	ENSP00000364467:K160N	ENSP00000364467:K160N	K	-	3	2	LYZL2	30941792	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	1.239000	0.32719	1.448000	0.47680	0.484000	0.47621	AAG		0.443	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047434.1		NM_183058		8	91	0	0	0	0.00499	0	8	91		
ANK3	288	broad.mit.edu	37	10	61834597	61834597	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:61834597C>G	ENST00000280772.2	-	37	6233	c.6042G>C	c.(6040-6042)gaG>gaC	p.E2014D	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2014					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTTGCACTCTCTCTGGCAGAG	0.438																																						uc001jky.2		NaN																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(6040-6042)GAG>GAC		ankyrin 3 isoform 1							81.0	83.0	82.0					10																	61834597		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61834597C>G	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6042G>C	10.37:g.61834597C>G	ENSP00000280772:p.Glu2014Asp					ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.E2014D	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	6234	-			2014					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.6042G>C	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705239	0.30232	.	.	ENSG00000151150	ENST00000280772	T	0.57595	0.39	5.93	1.7	0.24286	.	0.000000	0.42682	D	0.000676	T	0.34250	0.0891	L	0.40543	1.245	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.10428	-1.0630	10	0.27082	T	0.32	.	2.4169	0.04438	0.1266:0.4936:0.1237:0.2561	.	2014	Q12955	ANK3_HUMAN	D	2014	ENSP00000280772:E2014D	ENSP00000280772:E2014D	E	-	3	2	ANK3	61504603	0.971000	0.33674	0.998000	0.56505	0.714000	0.41099	0.105000	0.15333	0.703000	0.31848	0.655000	0.94253	GAG		0.438	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987		53	48	0	0	0	0.01441	0	53	48		
COL13A1	1305	broad.mit.edu	37	10	71716780	71716780	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:71716780C>G	ENST00000398978.3	+	39	2625	c.2133C>G	c.(2131-2133)gtC>gtG	p.V711V	COL13A1_ENST00000520267.1_Silent_p.V639V|COL13A1_ENST00000398973.3_Silent_p.V685V|COL13A1_ENST00000520133.1_Silent_p.V604V|COL13A1_ENST00000398964.3_Silent_p.V682V|COL13A1_ENST00000398971.3_Silent_p.V696V|COL13A1_ENST00000354547.3_Silent_p.V689V|COL13A1_ENST00000517713.1_Silent_p.V662V|COL13A1_ENST00000398966.3_Silent_p.V689V|COL13A1_ENST00000398968.3_Silent_p.V692V|COL13A1_ENST00000398969.3_Silent_p.V639V|COL13A1_ENST00000522165.1_Silent_p.V680V|COL13A1_ENST00000398974.3_Silent_p.V699V|COL13A1_ENST00000398972.3_Silent_p.V697V|COL13A1_ENST00000356340.3_Silent_p.V711V|COL13A1_ENST00000357811.3_Silent_p.V677V	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						GCTTACCAGTCCAAGGCTGCT	0.552																																						uc001jpr.1		NaN																	0				ovary(1)	1						c.(2131-2133)GTC>GTG		alpha 1 type XIII collagen isoform 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						93.0	97.0	96.0					10																	71716780		2006	4153	6159	SO:0001819	synonymous_variant	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71716780C>G	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.2133C>G	10.37:g.71716780C>G						COL13A1_uc001jqj.1_Silent_p.V684V|COL13A1_uc001jps.1_Silent_p.V682V|COL13A1_uc001jpt.1_Silent_p.V670V|COL13A1_uc001jpu.1_Silent_p.V680V|COL13A1_uc001jpv.1_Silent_p.V685V|COL13A1_uc001jpx.1_Silent_p.V662V|COL13A1_uc001jpw.1_Silent_p.V658V|COL13A1_uc001jpy.1_Silent_p.V649V|COL13A1_uc001jpz.1_Silent_p.V654V|COL13A1_uc001jqa.1_Silent_p.V651V|COL13A1_uc001jqc.1_Silent_p.V696V|COL13A1_uc001jqb.1_Silent_p.V604V|COL13A1_uc001jql.2_Silent_p.V711V|COL13A1_uc001jqd.1_Silent_p.V699V|COL13A1_uc001jqe.1_Silent_p.V694V|COL13A1_uc001jqf.1_Silent_p.V692V|COL13A1_uc001jqg.1_Silent_p.V689V|COL13A1_uc001jqh.1_Silent_p.V699V|COL13A1_uc001jqi.1_Silent_p.V697V|COL13A1_uc010qjf.1_Silent_p.V486V	p.V711V	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN			38	2669	+			711			Extracellular (Potential).|Nonhelical region 4 (NC4).			Silent	SNP	ENST00000398978.3	37	c.2133C>G	CCDS44419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.121|8.121	0.780857|0.780857	0.16120|0.16120	.|.	.|.	ENSG00000197467|ENSG00000197467	ENST00000456019|ENST00000398975	.|.	.|.	.|.	5.49|5.49	4.57|4.57	0.56435|0.56435	.|.	.|.	.|.	.|.	.|.	T|T	0.48466|0.48466	0.1501|0.1501	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.46610|0.46610	-0.9179|-0.9179	4|4	.|.	.|.	.|.	-10.456|-10.456	3.9715|3.9715	0.09455|0.09455	0.2234:0.6153:0.0:0.1613|0.2234:0.6153:0.0:0.1613	.|.	.|.	.|.	.|.	A|C	168|241	.|.	.|.	P|S	+|+	1|2	0|0	COL13A1|COL13A1	71386786|71386786	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	0.559000|0.559000	0.23485|0.23485	2.739000|2.739000	0.93911|0.93911	0.563000|0.563000	0.77884|0.77884	CCA|TCC		0.552	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1		NM_005203		22	38	0	0	0	0.007291	0	22	38		
POLR3A	11128	broad.mit.edu	37	10	79750904	79750904	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:79750904C>T	ENST00000372371.3	-	21	2946	c.2809G>A	c.(2809-2811)Gag>Aag	p.E937K		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	937					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AGAGCAGGCTCACTGGGACAC	0.502																																						uc001jzn.2		NaN																	0					0						c.(2809-2811)GAG>AAG		polymerase (RNA) III (DNA directed) polypeptide							119.0	101.0	107.0					10																	79750904		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79750904C>T	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.2809G>A	10.37:g.79750904C>T	ENSP00000361446:p.Glu937Lys						p.E937K	NM_007055	NP_008986	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		21	2903	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		937					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.2809G>A	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404383	0.96051	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.68765	-0.35	5.78	5.78	0.91487	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	T	0.75997	0.3926	L	0.58428	1.81	0.80722	D	1	D	0.54397	0.966	P	0.55112	0.769	T	0.73500	-0.3963	9	.	.	.	-38.2055	20.01	0.97447	0.0:1.0:0.0:0.0	.	937	O14802	RPC1_HUMAN	K	937	ENSP00000361446:E937K	.	E	-	1	0	POLR3A	79420910	1.000000	0.71417	0.949000	0.38748	0.683000	0.39861	4.493000	0.60341	2.725000	0.93324	0.655000	0.94253	GAG		0.502	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1		NM_007055		30	22	0	0	0	0.003755	0	30	22		
SFTPA1	653509	broad.mit.edu	37	10	81373716	81373716	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:81373716C>T	ENST00000398636.3	+	6	732	c.594C>T	c.(592-594)ttC>ttT	p.F198F	SFTPA1_ENST00000428376.2_Silent_p.F198F|SFTPA1_ENST00000419470.2_Silent_p.F213F|SFTPA1_ENST00000372313.5_Silent_p.F139F|SFTPA1_ENST00000372308.3_Silent_p.F198F	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	198	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CTGGAGACTTCCGCTACTCAG	0.547																																						uc001kap.2		NaN																	0					0						c.(592-594)TTC>TTT		surfactant protein A1 isoform 1							182.0	188.0	186.0					10																	81373716		2203	4296	6499	SO:0001819	synonymous_variant	653509				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding	g.chr10:81373716C>T	BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"""Collectins"""	10798	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A1A"""	178630	"""surfactant, pulmonary-associated protein A1"""	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.594C>T	10.37:g.81373716C>T						SFTPA1_uc001kaq.2_Silent_p.F198F|SFTPA1_uc009xry.2_Silent_p.F213F|SFTPA1_uc001kar.2_Silent_p.F198F|SFTPA1_uc010qlt.1_Silent_p.F139F|SFTPA1_uc009xrz.2_Silent_p.F128F|SFTPA1_uc009xsa.2_Silent_p.F198F|SFTPA1_uc009xsf.2_RNA	p.F198F	NM_005411	NP_005402	Q8IWL2	SFTA1_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		6	715	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		198			C-type lectin.		A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Silent	SNP	ENST00000398636.3	37	c.594C>T	CCDS44445.1																																																																																				0.547	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_005411		82	94	0	0	0	0.01441	0	82	94		
FAM35A	54537	broad.mit.edu	37	10	88939998	88939998	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:88939998G>A	ENST00000298784.1	+	7	2244	c.2130G>A	c.(2128-2130)gaG>gaA	p.E710E	FAM35A_ENST00000298786.4_Silent_p.E779E	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	710										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AAACAGATGAGAACAGGATCT	0.348																																					Ovarian(175;703 2004 25460 32514 43441)	uc001kei.3		NaN																	0				ovary(2)|skin(2)	4						c.(2128-2130)GAG>GAA		hypothetical protein LOC54537							33.0	38.0	36.0					10																	88939998		2203	4286	6489	SO:0001819	synonymous_variant	54537							g.chr10:88939998G>A	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.2130G>A	10.37:g.88939998G>A						FAM35A_uc001kej.3_Silent_p.E156E	p.E710E	NM_019054	NP_061927	Q86V20	FA35A_HUMAN			7	2244	+			710					O95885|Q9H991	Silent	SNP	ENST00000298784.1	37	c.2130G>A	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	G	6.738	0.504964	0.12822	.	.	ENSG00000122376	ENST00000342900	T	0.67698	-0.28	2.87	0.844	0.18943	.	0.121832	0.53938	N	0.000050	T	0.64227	0.2579	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58825	-0.7568	7	0.52906	T	0.07	-9.4252	3.9131	0.09211	0.3139:0.1832:0.5029:0.0	.	.	.	.	K	434	ENSP00000339800:E434K	ENSP00000339800:E434K	E	+	1	0	FAM35A	88929978	1.000000	0.71417	0.936000	0.37596	0.954000	0.61252	0.711000	0.25764	0.092000	0.17331	0.430000	0.28490	GAA		0.348	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2		NM_019054		12	17	0	0	0	0.00632	0	12	17		
TLL2	7093	broad.mit.edu	37	10	98155023	98155024	+	Nonsense_Mutation	DNP	CG	CG	TT	rs368020235		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:98155023_98155024CG>TT	ENST00000357947.3	-	13	1871_1872	c.1646_1647CG>AA	c.(1645-1647)tCG>tAA	p.S549*	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	549	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGTTGGAGCTCGATTTCACATC	0.49																																						uc001kml.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1645-1647)TCG>TAA		tolloid-like 2 precursor																																				SO:0001587	stop_gained	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98155023_98155024CG>TT	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1646_1647delinsTT	10.37:g.98155023_98155024delinsTT	ENSP00000350630:p.Ser549*					TLL2_uc009xvf.1_Nonsense_Mutation_p.S527*	p.S549*	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	13	1872_1873	-		Colorectal(252;0.0846)	549			CUB 2.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Nonsense_Mutation	DNP	ENST00000357947.3	37	c.1646_1647CG>AA	CCDS7449.1																																																																																				0.490	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1				18	40	0	0	0	0.004672	0	18	40		
TLL2	7093	broad.mit.edu	37	10	98155044	98155044	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:98155044C>G	ENST00000357947.3	-	13	1851	c.1626G>C	c.(1624-1626)gaG>gaC	p.E542D	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	542	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCTCCGGCTTCTCATAGCCAC	0.502																																						uc001kml.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1624-1626)GAG>GAC		tolloid-like 2 precursor							76.0	78.0	78.0					10																	98155044		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98155044C>G	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1626G>C	10.37:g.98155044C>G	ENSP00000350630:p.Glu542Asp					TLL2_uc009xvf.1_Missense_Mutation_p.E520D	p.E542D	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	13	1852	-		Colorectal(252;0.0846)	542			CUB 2.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1626G>C	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.105109	0.37145	.	.	ENSG00000095587	ENST00000357947	T	0.19105	2.17	5.36	4.46	0.54185	CUB (5);	0.000000	0.46145	D	0.000309	T	0.18964	0.0455	N	0.04508	-0.205	0.38524	D	0.948805	D	0.71674	0.998	D	0.76071	0.987	T	0.16837	-1.0389	10	0.10636	T	0.68	.	9.7252	0.40328	0.0:0.8441:0.0:0.1559	.	542	Q9Y6L7	TLL2_HUMAN	D	542	ENSP00000350630:E542D	ENSP00000350630:E542D	E	-	3	2	TLL2	98145034	1.000000	0.71417	0.999000	0.59377	0.774000	0.43823	0.718000	0.25866	1.499000	0.48617	0.561000	0.74099	GAG		0.502	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1				11	32	0	0	0	0.013114	0	11	32		
SEC31B	25956	broad.mit.edu	37	10	102267742	102267742	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:102267742G>C	ENST00000370345.3	-	6	659	c.562C>G	c.(562-564)Cac>Gac	p.H188D	SEC31B_ENST00000535773.1_Missense_Mutation_p.H31D|SEC31B_ENST00000451524.1_Missense_Mutation_p.H188D|SEC31B_ENST00000370329.5_Missense_Mutation_p.H191D|NDUFB8_ENST00000557395.1_3'UTR|NDUFB8_ENST00000531258.1_3'UTR	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	188					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CCACTGGGGTGAGCAGAAGAC	0.512																																						uc001krc.1		NaN																	0				ovary(1)	1						c.(562-564)CAC>GAC		SEC31 homolog B							199.0	172.0	181.0					10																	102267742		2203	4300	6503	SO:0001583	missense	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102267742G>C	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.562C>G	10.37:g.102267742G>C	ENSP00000359370:p.His188Asp					SEC31B_uc010qpo.1_Missense_Mutation_p.H187D|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR|SEC31B_uc010qpp.1_Missense_Mutation_p.H191D|SEC31B_uc009xwn.1_Missense_Mutation_p.H188D|SEC31B_uc009xwo.1_Missense_Mutation_p.H188D|SEC31B_uc010qpq.1_Missense_Mutation_p.H31D|SEC31B_uc010qpr.1_RNA	p.H188D	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	6	664	-		Colorectal(252;0.117)	188			WD 3.		B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	c.562C>G	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	G	9.992	1.230976	0.22542	.	.	ENSG00000075826	ENST00000370345;ENST00000451524;ENST00000535773;ENST00000370329	T;T;T;T	0.69175	1.66;1.66;-0.38;1.66	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.134298	0.64402	D	0.000002	T	0.61924	0.2386	N	0.17594	0.5	0.80722	D	1	B;B;P;B;P	0.45672	0.18;0.18;0.864;0.093;0.786	B;B;P;B;B	0.47915	0.065;0.109;0.561;0.065;0.358	T	0.63283	-0.6672	10	0.45353	T	0.12	-16.4299	19.2828	0.94058	0.0:0.0:1.0:0.0	.	188;191;187;188;188	A8KAL6;B4DGE3;Q9NQW1-5;E9PKR7;Q9NQW1	.;.;.;.;SC31B_HUMAN	D	188;188;31;191	ENSP00000359370:H188D;ENSP00000391178:H188D;ENSP00000442621:H31D;ENSP00000359354:H191D	ENSP00000359354:H191D	H	-	1	0	SEC31B	102257732	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.592000	0.46171	2.804000	0.96469	0.462000	0.41574	CAC		0.512	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1		NM_015490		80	88	0	0	0	0.01441	0	80	88		
MMP21	118856	broad.mit.edu	37	10	127455472	127455472	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:127455472G>C	ENST00000368808.3	-	7	1468	c.1469C>G	c.(1468-1470)aCt>aGt	p.T490S		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	490					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	AAAAACTTCAGTAATCCTCTT	0.333																																						uc001liu.2		NaN																	0				ovary(2)	2						c.(1468-1470)ACT>AGT		matrix metalloproteinase 21 preproprotein							79.0	82.0	81.0					10																	127455472		2203	4300	6503	SO:0001583	missense	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127455472G>C	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.1469C>G	10.37:g.127455472G>C	ENSP00000357798:p.Thr490Ser						p.T490S	NM_147191	NP_671724	Q8N119	MMP21_HUMAN			7	1469	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	490			Hemopexin-like 3.		Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	37	c.1469C>G	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	G	6.025	0.372987	0.11409	.	.	ENSG00000154485	ENST00000368808	T	0.01787	4.64	5.95	9.72E-4	0.14044	Hemopexin/matrixin (2);	0.519694	0.21043	N	0.081138	T	0.00967	0.0032	N	0.16602	0.42	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.49283	-0.8956	10	0.02654	T	1	-7.5588	6.3776	0.21515	0.3204:0.144:0.5356:0.0	.	490	Q8N119	MMP21_HUMAN	S	490	ENSP00000357798:T490S	ENSP00000357798:T490S	T	-	2	0	MMP21	127445462	0.006000	0.16342	0.000000	0.03702	0.020000	0.10135	0.907000	0.28531	0.011000	0.14865	0.655000	0.94253	ACT		0.333	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1				7	31	0	0	0	0.001984	0	7	31		
OR52B4	143496	broad.mit.edu	37	11	4388659	4388659	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:4388659C>T	ENST00000408920.2	-	1	957	c.867G>A	c.(865-867)ctG>ctA	p.L289L		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	289					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAATGGGATTCAGCATAGGTG	0.418																																						uc010qye.1		NaN																	0					0						c.(865-867)CTG>CTA		olfactory receptor, family 52, subfamily B,							82.0	83.0	83.0					11																	4388659		1931	4140	6071	SO:0001819	synonymous_variant	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4388659C>T	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.867G>A	11.37:g.4388659C>T							p.L289L	NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	867	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	289			Helical; Name=7; (Potential).		A6NP68|Q6IFK6	Silent	SNP	ENST00000408920.2	37	c.867G>A	CCDS41609.1																																																																																				0.418	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3		NM_001005161		12	38	0	0	0	0.001855	0	12	38		
FAM160A2	84067	broad.mit.edu	37	11	6239209	6239209	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:6239209C>T	ENST00000449352.2	-	9	1870	c.1607G>A	c.(1606-1608)cGa>cAa	p.R536Q	FAM160A2_ENST00000524416.1_Missense_Mutation_p.R536Q|FAM160A2_ENST00000529360.1_5'Flank|FAM160A2_ENST00000265978.4_Missense_Mutation_p.R550Q			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	536					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGTAGGCCGTCGGCCAGGGCT	0.657																																						uc001mcl.3		NaN																	0				skin(2)	2						c.(1606-1608)CGA>CAA		hypothetical protein LOC84067 isoform 2							41.0	42.0	42.0					11																	6239209		2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6239209C>T		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1607G>A	11.37:g.6239209C>T	ENSP00000416918:p.Arg536Gln					FAM160A2_uc001mck.3_Missense_Mutation_p.R550Q|FAM160A2_uc001mcm.2_Missense_Mutation_p.R536Q	p.R536Q	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN			9	1966	-			536					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.1607G>A	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360920	0.41801	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.14266	3.14;3.14;2.52	4.97	3.99	0.46301	.	0.177589	0.48286	D	0.000185	T	0.04770	0.0129	N	0.14661	0.345	0.33775	D	0.623498	P;P;P	0.49862	0.929;0.495;0.907	B;B;B	0.35813	0.211;0.04;0.176	T	0.16276	-1.0408	10	0.12103	T	0.63	-11.5533	4.4508	0.11619	0.0:0.6242:0.2299:0.1459	.	536;536;550	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	Q	536;461;550;536	ENSP00000416918:R536Q;ENSP00000265978:R550Q;ENSP00000431773:R536Q	ENSP00000265978:R550Q	R	-	2	0	FAM160A2	6195785	0.982000	0.34865	1.000000	0.80357	0.894000	0.52154	2.300000	0.43620	2.590000	0.87494	0.561000	0.74099	CGA		0.657	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1		NM_032127		9	34	0	0	0	0.004482	0	9	34		
USP47	55031	broad.mit.edu	37	11	11913630	11913630	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:11913630C>G	ENST00000399455.2	+	5	653	c.533C>G	c.(532-534)tCt>tGt	p.S178C	USP47_ENST00000339865.5_Missense_Mutation_p.S90C|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.S158C	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	178					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TCCTACTCATCTATTTTGAAT	0.393																																						uc001mjq.1		NaN																	0				ovary(1)|skin(1)	2						c.(532-534)TCT>TGT		ubiquitin specific protease 47							137.0	132.0	134.0					11																	11913630		1835	4075	5910	SO:0001583	missense	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11913630C>G	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.533C>G	11.37:g.11913630C>G	ENSP00000382382:p.Ser178Cys					USP47_uc001mjr.2_Missense_Mutation_p.S90C|USP47_uc001mjs.2_Missense_Mutation_p.S158C	p.S178C	NM_017944	NP_060414	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	5	1296	+			178					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.533C>G		.	.	.	.	.	.	.	.	.	.	C	23.0	4.357669	0.82243	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455;ENST00000535588	T;T;T	0.05580	3.42;3.43;3.43	5.08	5.08	0.68730	.	0.157028	0.64402	D	0.000016	T	0.17577	0.0422	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.965;0.995	T	0.01068	-1.1462	10	0.66056	D	0.02	.	18.4373	0.90650	0.0:1.0:0.0:0.0	.	158;90	E9PM46;Q96K76-2	.;.	C	90;158;178;178	ENSP00000339957:S90C;ENSP00000433146:S158C;ENSP00000382382:S178C	ENSP00000339957:S90C	S	+	2	0	USP47	11870206	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.257000	0.78362	2.495000	0.84180	0.557000	0.71058	TCT		0.393	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2		NM_017944		17	148	0	0	0	0.006122	0	17	148		
FAR1	84188	broad.mit.edu	37	11	13732282	13732282	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:13732282G>A	ENST00000354817.3	+	5	732	c.588G>A	c.(586-588)ttG>ttA	p.L196L	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	196					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						CGCCAAAATTGATAGGAGACA	0.333																																						uc001mld.2		NaN																	0				ovary(1)|skin(1)	2						c.(586-588)TTG>TTA		fatty acyl CoA reductase 1							108.0	94.0	99.0					11																	13732282		2200	4294	6494	SO:0001819	synonymous_variant	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13732282G>A	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.588G>A	11.37:g.13732282G>A						FAR1_uc009ygp.2_Silent_p.L196L	p.L196L	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN			5	743	+			196					D3DQW8|Q5CZA3	Silent	SNP	ENST00000354817.3	37	c.588G>A	CCDS7813.1																																																																																				0.333	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2		NM_032228		18	176	0	0	0	0.010504	0	18	176		
FAR1	84188	broad.mit.edu	37	11	13732293	13732293	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:13732293G>A	ENST00000354817.3	+	5	743	c.599G>A	c.(598-600)aGa>aAa	p.R200K	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	200					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						ATAGGAGACAGACCTAATACA	0.348																																						uc001mld.2		NaN																	0				ovary(1)|skin(1)	2						c.(598-600)AGA>AAA		fatty acyl CoA reductase 1							109.0	96.0	100.0					11																	13732293		2200	4294	6494	SO:0001583	missense	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13732293G>A	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.599G>A	11.37:g.13732293G>A	ENSP00000346874:p.Arg200Lys					FAR1_uc009ygp.2_Missense_Mutation_p.R200K	p.R200K	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN			5	754	+			200					D3DQW8|Q5CZA3	Missense_Mutation	SNP	ENST00000354817.3	37	c.599G>A	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727503	0.69074	.	.	ENSG00000197601	ENST00000354817;ENST00000532701;ENST00000355107	T;T	0.41758	0.99;0.99	5.8	5.8	0.92144	NAD(P)-binding domain (1);Male sterility, NAD-binding (1);	0.046372	0.85682	D	0.000000	T	0.51652	0.1687	L	0.58925	1.835	0.80722	D	1	B;B	0.31227	0.109;0.314	B;B	0.42163	0.151;0.378	T	0.39313	-0.9620	10	0.29301	T	0.29	-12.5864	19.6454	0.95775	0.0:0.0:1.0:0.0	.	200;200	E7ETC1;Q8WVX9	.;FACR1_HUMAN	K	200	ENSP00000346874:R200K;ENSP00000437111:R200K	ENSP00000346874:R200K	R	+	2	0	FAR1	13688869	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.672000	0.74477	2.736000	0.93811	0.591000	0.81541	AGA		0.348	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2		NM_032228		17	173	0	0	0	0.007413	0	17	173		
FAR1	84188	broad.mit.edu	37	11	13733312	13733312	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:13733312G>C	ENST00000354817.3	+	6	869	c.725G>C	c.(724-726)gGa>gCa	p.G242A	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	242					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)|wax biosynthetic process (GO:0010025)	integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						TGGTATTAGGGATGGATTGAT	0.294																																						uc001mld.2		NaN																	0				ovary(1)|skin(1)	2						c.(724-726)GGA>GCA		fatty acyl CoA reductase 1							66.0	74.0	71.0					11																	13733312		2200	4289	6489	SO:0001630	splice_region_variant	84188				ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	g.chr11:13733312G>C	AK026381	CCDS7813.1	11p15.2	2011-09-14	2008-06-06	2008-06-06	ENSG00000197601	ENSG00000197601	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	26222	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 1"""		"""male sterility domain containing 2"""	MLSTD2		15220348, 15220349, 19027726	Standard	NM_032228		Approved	FLJ22728, SDR10E1	uc001mld.3	Q8WVX9	OTTHUMG00000165743	ENST00000354817.3:c.724-1G>C	11.37:g.13733312G>C						FAR1_uc009ygp.2_Missense_Mutation_p.G242A	p.G242A	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN			6	880	+			242					D3DQW8|Q5CZA3	Missense_Mutation	SNP	ENST00000354817.3	37	c.725G>C	CCDS7813.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699852	0.88924	.	.	ENSG00000197601	ENST00000354817;ENST00000532701;ENST00000355107	T;T	0.69175	-0.38;-0.38	5.51	5.51	0.81932	NAD(P)-binding domain (1);Male sterility, NAD-binding (1);	0.000000	0.85682	D	0.000000	D	0.87091	0.6091	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.90164	0.4230	10	0.87932	D	0	-15.0295	18.9895	0.92786	0.0:0.0:1.0:0.0	.	242;242	E7ETC1;Q8WVX9	.;FACR1_HUMAN	A	242	ENSP00000346874:G242A;ENSP00000437111:G242A	ENSP00000346874:G242A	G	+	2	0	FAR1	13689888	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.657000	0.98554	2.574000	0.86865	0.591000	0.81541	GGA		0.294	FAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385990.2		NM_032228	Missense_Mutation	13	91	0	0	0	0.004007	0	13	91		
CAPRIN1	4076	broad.mit.edu	37	11	34113462	34113462	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:34113462A>G	ENST00000341394.4	+	15	1753	c.1564A>G	c.(1564-1566)Atg>Gtg	p.M522V	CAPRIN1_ENST00000532820.1_Missense_Mutation_p.M522V|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.M522V|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.M522V|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.M441V|CAPRIN1_ENST00000533657.1_3'UTR	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	522					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GGTGTTCAATATGAATGCCCC	0.373																																						uc001mvh.1		NaN																	0				ovary(1)	1						c.(1564-1566)ATG>GTG		membrane component chromosome 11 surface marker							77.0	77.0	77.0					11																	34113462		2202	4298	6500	SO:0001583	missense	4076				negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding	g.chr11:34113462A>G	BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.1564A>G	11.37:g.34113462A>G	ENSP00000340329:p.Met522Val					CAPRIN1_uc001mvg.2_Missense_Mutation_p.M522V|CAPRIN1_uc001mvi.2_Missense_Mutation_p.M522V|CAPRIN1_uc001mvj.1_Missense_Mutation_p.M441V	p.M522V	NM_005898	NP_005889	Q14444	CAPR1_HUMAN			15	1753	+		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)	522					A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	ENST00000341394.4	37	c.1564A>G	CCDS31453.1	.	.	.	.	.	.	.	.	.	.	A	4.661	0.122887	0.08931	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.65	5.65	0.86999	.	0.042369	0.85682	D	0.000000	T	0.18045	0.0433	N	0.19112	0.55	0.46954	D	0.999266	B;B	0.33171	0.316;0.4	B;B	0.35470	0.203;0.078	T	0.06110	-1.0845	10	0.10111	T	0.7	.	15.8901	0.79291	1.0:0.0:0.0:0.0	.	522;522	Q14444;Q14444-2	CAPR1_HUMAN;.	V	522;522;522;522;441	ENSP00000340329:M522V;ENSP00000374296:M522V;ENSP00000434150:M522V;ENSP00000434204:M522V;ENSP00000431581:M441V	ENSP00000340329:M522V	M	+	1	0	CAPRIN1	34070038	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.334000	0.65923	2.158000	0.67659	0.528000	0.53228	ATG		0.373	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2		NM_005898		15	52	0	0	0	0.007413	0	15	52		
PRDM11	56981	broad.mit.edu	37	11	45245797	45245797	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:45245797G>C	ENST00000530656.1	+	7	874	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	PRDM11_ENST00000424263.2_Missense_Mutation_p.E258Q|PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000263765.4_Missense_Mutation_p.E292Q			Q9NQV5	PRD11_HUMAN	PR domain containing 11	292							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GGAGAAGTCTGAGCAGGTTCT	0.502																																					NSCLC(118;1511 1736 6472 36603 43224)	uc001myo.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(874-876)GAG>CAG		PR domain containing 11							107.0	118.0	114.0					11																	45245797		2202	4299	6501	SO:0001583	missense	56981							g.chr11:45245797G>C	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.874G>C	11.37:g.45245797G>C	ENSP00000435976:p.Glu292Gln						p.E292Q	NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN			8	1123	+			292					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.874G>C		.	.	.	.	.	.	.	.	.	.	G	23.3	4.401386	0.83120	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.50548	0.74;0.74;0.74	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000007	T	0.55657	0.1934	N	0.24115	0.695	0.42641	D	0.993418	D	0.62365	0.991	P	0.61874	0.895	T	0.56444	-0.7978	10	0.51188	T	0.08	-41.9768	20.1054	0.97890	0.0:0.0:1.0:0.0	.	292	Q9NQV5	PRD11_HUMAN	Q	292;292;258	ENSP00000263765:E292Q;ENSP00000435976:E292Q;ENSP00000394314:E258Q	ENSP00000263765:E292Q	E	+	1	0	PRDM11	45202373	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.929000	0.87595	2.757000	0.94681	0.655000	0.94253	GAG		0.502	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1		NM_020229		26	138	0	0	0	0.012213	0	26	138		
ATG13	9776	broad.mit.edu	37	11	46679081	46679081	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:46679081G>C	ENST00000434074.1	+	9	1293	c.604G>C	c.(604-606)Gag>Cag	p.E202Q	ATG13_ENST00000530500.1_Missense_Mutation_p.E123Q|ATG13_ENST00000359513.4_Missense_Mutation_p.E202Q|ATG13_ENST00000529655.1_Missense_Mutation_p.E202Q|ATG13_ENST00000528494.1_Missense_Mutation_p.E202Q|ATG13_ENST00000451945.1_Missense_Mutation_p.E202Q|ATG13_ENST00000526508.1_Missense_Mutation_p.E202Q|ATG13_ENST00000312040.4_Missense_Mutation_p.E202Q|ATG13_ENST00000524625.1_Missense_Mutation_p.E202Q	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	202					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						CAGGCAATTTGAGAGGACCCC	0.488																																						uc009yld.2		NaN																	0					0						c.(604-606)GAG>CAG		autophagy-related protein 13 isoform 1							135.0	115.0	122.0					11																	46679081		2201	4299	6500	SO:0001583	missense	9776				autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr11:46679081G>C	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.604G>C	11.37:g.46679081G>C	ENSP00000400642:p.Glu202Gln					KIAA0652_uc001nda.2_Missense_Mutation_p.E202Q|KIAA0652_uc001ndb.2_Missense_Mutation_p.E202Q|KIAA0652_uc001ncz.2_Missense_Mutation_p.E202Q|KIAA0652_uc001ndc.2_Missense_Mutation_p.E202Q|KIAA0652_uc010rgv.1_Missense_Mutation_p.E123Q	p.E202Q	NM_001142673	NP_001136145	O75143	ATG13_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	10	1288	+			202					B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	ENST00000434074.1	37	c.604G>C	CCDS44582.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665247	0.88251	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000526078	.	.	.	6.16	6.16	0.99307	.	0.086330	0.85682	D	0.000000	T	0.56426	0.1984	N	0.24115	0.695	0.80722	D	1	D;P;D;P	0.61080	0.985;0.938;0.989;0.949	P;P;P;P	0.51701	0.637;0.632;0.563;0.677	T	0.45920	-0.9228	9	0.20046	T	0.44	-9.8322	20.8598	0.99761	0.0:0.0:1.0:0.0	.	123;202;202;202	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	Q	202;202;202;202;202;123;202;202;202;202;202	.	ENSP00000310321:E202Q	E	+	1	0	ATG13	46635657	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.527000	0.98044	2.937000	0.99478	0.650000	0.86243	GAG		0.488	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2		NM_014741		21	58	0	0	0	0.014323	0	21	58		
PTPRJ	5795	broad.mit.edu	37	11	48185099	48185099	+	Silent	SNP	C	C	T	rs2229704		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:48185099C>T	ENST00000418331.2	+	23	4000	c.3648C>T	c.(3646-3648)atC>atT	p.I1216I		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1216	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACCTGCTCATCAACTTCCGGT	0.547																																						uc001ngp.3		NaN																	0				breast(3)|kidney(3)|ovary(1)|skin(1)	8						c.(3646-3648)ATC>ATT		protein tyrosine phosphatase, receptor type, J							149.0	104.0	119.0					11																	48185099		2201	4298	6499	SO:0001819	synonymous_variant	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48185099C>T	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.3648C>T	11.37:g.48185099C>T							p.I1216I	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN			23	4003	+			1216			Tyrosine-protein phosphatase.|Cytoplasmic (Potential).		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	ENST00000418331.2	37	c.3648C>T	CCDS7945.1																																																																																				0.547	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1				28	64	0	0	0	0.008361	0	28	64		
APLNR	187	broad.mit.edu	37	11	57003561	57003561	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:57003561G>A	ENST00000606794.1	-	1	1114	c.918C>T	c.(916-918)ccC>ccT	p.P306P		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	306					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CATAGAGGAAGGGGTTGAGGC	0.607																																						uc001njo.2		NaN																	0				lung(5)|ovary(1)	6						c.(916-918)CCC>CCT		apelin receptor							113.0	60.0	78.0					11																	57003561		2201	4296	6497	SO:0001819	synonymous_variant	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57003561G>A	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.918C>T	11.37:g.57003561G>A						APLNR_uc001njn.3_RNA	p.P306P	NM_005161	NP_005152	P35414	APJ_HUMAN			1	1367	-			306			Helical; Name=7; (Potential).			Silent	SNP	ENST00000606794.1	37	c.918C>T	CCDS7950.1																																																																																				0.607	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1		NM_005161		8	44	0	0	0	0.006214	0	8	44		
FAM111B	374393	broad.mit.edu	37	11	58892744	58892744	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:58892744C>G	ENST00000343597.3	+	4	1365	c.1174C>G	c.(1174-1176)Caa>Gaa	p.Q392E	FAM111B_ENST00000411426.1_Missense_Mutation_p.Q362E|FAM111B_ENST00000529618.1_Missense_Mutation_p.Q362E	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	392							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						AAAGAATTATCAAACGTTGAA	0.388																																						uc001nnl.2		NaN																	0				ovary(2)	2						c.(1174-1176)CAA>GAA		hypothetical protein LOC374393 isoform a							68.0	74.0	72.0					11																	58892744		2200	4294	6494	SO:0001583	missense	374393						catalytic activity	g.chr11:58892744C>G	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1174C>G	11.37:g.58892744C>G	ENSP00000341565:p.Gln392Glu					FAM111B_uc001nnm.2_Missense_Mutation_p.Q362E|FAM111B_uc010rko.1_Missense_Mutation_p.Q362E	p.Q392E	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN			4	1417	+			392					B4E2G2|Q6P661	Missense_Mutation	SNP	ENST00000343597.3	37	c.1174C>G	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	C	6.329	0.428846	0.11987	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	T;T;T	0.30182	1.54;1.54;1.54	3.76	0.234	0.15390	.	0.866334	0.09859	N	0.746428	T	0.12475	0.0303	N	0.24115	0.695	0.09310	N	1	P	0.47762	0.9	B	0.33042	0.157	T	0.14035	-1.0487	10	0.10636	T	0.68	.	5.0668	0.14585	0.3464:0.5379:0.0:0.1157	.	392	Q6SJ93	F111B_HUMAN	E	362;362;392	ENSP00000393855:Q362E;ENSP00000432875:Q362E;ENSP00000341565:Q392E	ENSP00000341565:Q392E	Q	+	1	0	FAM111B	58649320	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.805000	0.04530	0.300000	0.22699	0.655000	0.94253	CAA		0.388	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1		NM_198947		22	66	0	0	0	0.016522	0	22	66		
FAM111B	374393	broad.mit.edu	37	11	58893519	58893519	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:58893519C>G	ENST00000343597.3	+	4	2140	c.1949C>G	c.(1948-1950)tCa>tGa	p.S650*	FAM111B_ENST00000411426.1_Nonsense_Mutation_p.S620*|FAM111B_ENST00000529618.1_Nonsense_Mutation_p.S620*	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	650							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GATGGGTCCTCAGGCTCCCCA	0.398																																						uc001nnl.2		NaN																	0				ovary(2)	2						c.(1948-1950)TCA>TGA		hypothetical protein LOC374393 isoform a							130.0	114.0	119.0					11																	58893519		2201	4295	6496	SO:0001587	stop_gained	374393						catalytic activity	g.chr11:58893519C>G	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1949C>G	11.37:g.58893519C>G	ENSP00000341565:p.Ser650*					FAM111B_uc001nnm.2_Nonsense_Mutation_p.S620*|FAM111B_uc010rko.1_Nonsense_Mutation_p.S620*	p.S650*	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN			4	2192	+			650					B4E2G2|Q6P661	Nonsense_Mutation	SNP	ENST00000343597.3	37	c.1949C>G	CCDS7972.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012862	0.75161	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	.	.	.	4.77	3.86	0.44501	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.2427	0.43321	0.0:0.9066:0.0:0.0934	.	.	.	.	X	620;620;650	.	ENSP00000341565:S650X	S	+	2	0	FAM111B	58650095	1.000000	0.71417	0.977000	0.42913	0.051000	0.14879	5.224000	0.65288	1.253000	0.44018	0.650000	0.86243	TCA		0.398	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1		NM_198947		10	50	0	0	0	0.013537	0	10	50		
OR5A2	219981	broad.mit.edu	37	11	59190322	59190322	+	Silent	SNP	G	G	C	rs142339235		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:59190322G>C	ENST00000302040.4	-	1	127	c.105C>G	c.(103-105)ctC>ctG	p.L35L		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TCAGGAGGTAGAGCCCCAGAA	0.448																																						uc010rkt.1		NaN																	0					0						c.(103-105)CTC>CTG		olfactory receptor, family 5, subfamily A,							117.0	101.0	107.0					11																	59190322		2201	4295	6496	SO:0001819	synonymous_variant	219981				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59190322G>C	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.105C>G	11.37:g.59190322G>C							p.L35L	NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN			1	105	-			35			Helical; Name=1; (Potential).		B9EH21|Q6IFF4|Q96RB0	Silent	SNP	ENST00000302040.4	37	c.105C>G	CCDS31560.1																																																																																				0.448	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394552.1		NM_001001954		9	39	0	0	0	0.004482	0	9	39		
RARRES3	5920	broad.mit.edu	37	11	63312136	63312136	+	Silent	SNP	G	G	A	rs367717733		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:63312136G>A	ENST00000255688.3	+	3	210	c.162G>A	c.(160-162)ctG>ctA	p.L54L	RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Silent_p.L54L|RARRES3_ENST00000439013.2_Silent_p.L54L	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	54					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TCTCAGTCCTGAGCAACAGTG	0.582																																						uc001nxf.3		NaN																	0				ovary(1)	1						c.(160-162)CTG>CTA		retinoic acid receptor responder (tazarotene		G		1,3927		0,1,1963	118.0	126.0	123.0		162	-2.2	0.0	11		123	0,8316		0,0,4158	no	coding-synonymous	RARRES3	NM_004585.3		0,1,6121	AA,AG,GG		0.0,0.0255,0.0082		54/165	63312136	1,12243	1964	4158	6122	SO:0001819	synonymous_variant	5920				lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	g.chr11:63312136G>A		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.162G>A	11.37:g.63312136G>A							p.L54L	NM_004585	NP_004576	Q9UL19	TIG3_HUMAN			3	230	+			54					B2R599|B4DDW2|E7ENZ7|O95200	Silent	SNP	ENST00000255688.3	37	c.162G>A	CCDS41662.1																																																																																				0.582	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1				32	162	0	0	0	0.013726	0	32	162		
RELT	84957	broad.mit.edu	37	11	73102216	73102216	+	Silent	SNP	C	C	T	rs146023545	byFrequency	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:73102216C>T	ENST00000064780.2	+	5	576	c.315C>T	c.(313-315)cgC>cgT	p.R105R	RELT_ENST00000393580.2_Silent_p.R105R	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	105						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GGGTTCCCCGCGTTCCATGTC	0.587													C|||	7	0.00139776	0.0	0.0	5008	,	,		19735	0.0069		0.0	False		,,,				2504	0.0					uc001otv.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(313-315)CGC>CGT		RELT tumor necrosis factor receptor precursor							152.0	139.0	143.0					11																	73102216		2200	4293	6493	SO:0001819	synonymous_variant	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73102216C>T	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.315C>T	11.37:g.73102216C>T						RELT_uc001otw.2_Silent_p.R105R|RELT_uc009yto.1_Silent_p.R23R|RELT_uc001otx.2_5'Flank	p.R105R	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN			5	480	+			105			Extracellular (Potential).		Q86V34|Q96JU1|Q9BUX7	Silent	SNP	ENST00000064780.2	37	c.315C>T	CCDS8222.1																																																																																				0.587	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2		NM_032871		51	91	0	0	0	0.01441	0	51	91		
FAT3	120114	broad.mit.edu	37	11	92534006	92534006	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:92534006C>T	ENST00000298047.6	+	9	7844	c.7827C>T	c.(7825-7827)gtC>gtT	p.V2609V	FAT3_ENST00000409404.2_Silent_p.V2609V|FAT3_ENST00000525166.1_Silent_p.V2459V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2609	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAGCCAGTGTCAGGGCAGATG	0.468										TCGA Ovarian(4;0.039)																												uc001pdj.3		NaN																	0				ovary(4)|pancreas(1)	5						c.(7825-7827)GTC>GTT		FAT tumor suppressor homolog 3							59.0	58.0	58.0					11																	92534006		1973	4177	6150	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534006C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7827C>T	11.37:g.92534006C>T		TCGA Ovarian(4;0.039)					p.V2609V	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	7844	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2609			Cadherin 24.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.7827C>T																																																																																					0.468	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781		10	10	0	0	0	0.001855	0	10	10		
PVRL1	5818	broad.mit.edu	37	11	119545906	119545906	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:119545906G>A	ENST00000264025.3	-	5	1496	c.966C>T	c.(964-966)atC>atT	p.I322I	PVRL1_ENST00000524510.1_5'Flank|PVRL1_ENST00000341398.2_Silent_p.I322I|PVRL1_ENST00000340882.2_Silent_p.I322I	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	322	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		AGCGTGTACCGATGGGGTTGG	0.602																																						uc001pwv.2		NaN																	0					0						c.(964-966)ATC>ATT		poliovirus receptor-related 1 isoform 1							164.0	118.0	134.0					11																	119545906		2199	4295	6494	SO:0001819	synonymous_variant	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119545906G>A	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.966C>T	11.37:g.119545906G>A						PVRL1_uc001pwu.1_Silent_p.I322I|PVRL1_uc001pww.2_Silent_p.I322I	p.I322I	NM_002855	NP_002846	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	5	1138	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	322			Extracellular (Potential).|Ig-like C2-type 2.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Silent	SNP	ENST00000264025.3	37	c.966C>T	CCDS8426.1																																																																																				0.602	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1				11	28	0	0	0	0.010729	0	11	28		
TBCEL	219899	broad.mit.edu	37	11	120918374	120918374	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:120918374G>A	ENST00000529397.1	+	3	371	c.271G>A	c.(271-273)Gag>Aag	p.E91K	TBCEL_ENST00000422003.2_Missense_Mutation_p.E91K	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	91						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		AGACTGGCATGAGGTGAAGTT	0.368																																						uc009zay.2		NaN																	0				skin(1)	1						c.(271-273)GAG>AAG		tubulin folding cofactor E-like							90.0	83.0	85.0					11																	120918374		2203	4299	6502	SO:0001583	missense	219899					cytoplasm|cytoskeleton		g.chr11:120918374G>A	BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"""leucine rich repeat containing 35"", ""tubulin-specific chaperone e-like"""	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.271G>A	11.37:g.120918374G>A	ENSP00000437184:p.Glu91Lys					TBCEL_uc001pxo.2_Missense_Mutation_p.E91K|TBCEL_uc001pxp.2_5'UTR|TBCEL_uc001pxq.2_RNA	p.E91K	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)	3	349	+		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	91			LRR 1.		Q0VAN6	Missense_Mutation	SNP	ENST00000529397.1	37	c.271G>A	CCDS31692.1	.	.	.	.	.	.	.	.	.	.	G	31	5.071282	0.93950	.	.	ENSG00000154114	ENST00000529397;ENST00000422003;ENST00000524726	T;T;T	0.48836	0.8;0.8;0.8	5.59	4.68	0.58851	.	0.048630	0.85682	D	0.000000	T	0.60051	0.2239	M	0.64630	1.985	0.80722	D	1	P	0.45957	0.869	P	0.54270	0.747	T	0.64123	-0.6481	10	0.72032	D	0.01	-0.043	14.4262	0.67218	0.0708:0.0:0.9292:0.0	.	91	Q5QJ74	TBCEL_HUMAN	K	91	ENSP00000437184:E91K;ENSP00000403925:E91K;ENSP00000432783:E91K	ENSP00000284259:E91K	E	+	1	0	TBCEL	120423584	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	7.922000	0.87538	1.364000	0.46038	0.585000	0.79938	GAG		0.368	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387688.1		NM_152715		8	11	0	0	0	0.004482	0	8	11		
IGSF9B	22997	broad.mit.edu	37	11	133792552	133792552	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr11:133792552G>A	ENST00000321016.8	-	16	2423	c.2193C>T	c.(2191-2193)atC>atT	p.I731I	IGSF9B_ENST00000533871.2_Silent_p.I731I			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	731					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCAAGAAGCAGATGGTAGCTA	0.607																																						uc001qgx.3		NaN																	0					0						c.(2191-2193)ATC>ATT		immunoglobulin superfamily, member 9B							17.0	23.0	21.0					11																	133792552		2052	4190	6242	SO:0001819	synonymous_variant	22997					integral to membrane|plasma membrane		g.chr11:133792552G>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2193C>T	11.37:g.133792552G>A						IGSF9B_uc001qgy.1_Silent_p.I573I	p.I731I	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	16	2424	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	731			Helical; (Potential).		G5EA26	Silent	SNP	ENST00000321016.8	37	c.2193C>T																																																																																					0.607	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			XM_290502		4	5	0	0	0	0.009096	0	4	5		
IQSEC3	440073	broad.mit.edu	37	12	176472	176472	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:176472C>G	ENST00000538872.1	+	1	542	c.424C>G	c.(424-426)Ctg>Gtg	p.L142V	IQSEC3_ENST00000326261.4_Missense_Mutation_p.L142V			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	142					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCACAAGCATCTGGGGACACA	0.697																																						uc001qht.1		NaN																	0				central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(-232--228)ATCTG>ATGTG		IQ motif and Sec7 domain 3							25.0	34.0	31.0					12																	176472		1568	3580	5148	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:176472C>G	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.424C>G	12.37:g.176472C>G	ENSP00000437554:p.Leu142Val							NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	1	270	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)							A6NIF2|A6NKV9|Q8TB43	Translation_Start_Site	SNP	ENST00000538872.1	37	c.-230C>G	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	c	1.074	-0.669166	0.03403	.	.	ENSG00000120645	ENST00000538872;ENST00000326261	T;T	0.09630	2.96;2.96	4.8	2.68	0.31781	.	2.551920	0.01758	N	0.030350	T	0.07413	0.0187	N	0.14661	0.345	0.09310	N	1	.	.	.	.	.	.	T	0.32587	-0.9901	8	0.13108	T	0.6	.	7.8841	0.29640	0.1777:0.6438:0.1784:0.0	.	.	.	.	V	142	ENSP00000437554:L142V;ENSP00000315662:L142V	ENSP00000315662:L142V	L	+	1	2	IQSEC3	46733	0.457000	0.25752	0.884000	0.34674	0.033000	0.12548	1.144000	0.31565	0.959000	0.37980	0.561000	0.74099	CTG		0.697	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3		XM_495902		3	31	0	0	0	0.009096	0	3	31		
KCNA5	3741	broad.mit.edu	37	12	5154121	5154121	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:5154121G>C	ENST00000252321.3	+	1	1037	c.808G>C	c.(808-810)Gag>Cag	p.E270Q		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	270					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CTTCTGCTTGGAGACCCTGCC	0.657																																						uc001qni.2		NaN																	0				ovary(2)|breast(2)	4						c.(808-810)GAG>CAG		potassium voltage-gated channel, shaker-related							93.0	97.0	96.0					12																	5154121		2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154121G>C	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.808G>C	12.37:g.5154121G>C	ENSP00000252321:p.Glu270Gln						p.E270Q	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	1037	+			270					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.808G>C	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311589	0.81358	.	.	ENSG00000130037	ENST00000252321	T	0.66995	-0.24	4.77	4.77	0.60923	.	0.205972	0.39834	N	0.001245	D	0.85470	0.5704	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88996	0.3418	10	0.87932	D	0	.	16.9696	0.86295	0.0:0.0:1.0:0.0	.	270	P22460	KCNA5_HUMAN	Q	270	ENSP00000252321:E270Q	ENSP00000252321:E270Q	E	+	1	0	KCNA5	5024382	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.569000	0.98170	2.478000	0.83669	0.561000	0.74099	GAG		0.657	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2		NM_002234		29	95	0	0	0	0.008361	0	29	95		
CLEC1B	51266	broad.mit.edu	37	12	10145870	10145870	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:10145870C>G	ENST00000298527.6	-	6	741	c.562G>C	c.(562-564)Gat>Cat	p.D188H	CLEC1B_ENST00000348658.4_Missense_Mutation_p.D155H|CLEC1B_ENST00000428126.2_Missense_Mutation_p.D155H	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	188	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						CCTTTTCCATCTTCCAAAAAC	0.358																																						uc001qwu.2		NaN																	0					0						c.(562-564)GAT>CAT		C-type lectin domain family 1, member B isoform							78.0	72.0	74.0					12																	10145870		1832	4085	5917	SO:0001583	missense	51266				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	g.chr12:10145870C>G	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"""C-type lectin domain containing"""	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.562G>C	12.37:g.10145870C>G	ENSP00000298527:p.Asp188His					CLEC1B_uc009zhd.2_Missense_Mutation_p.D155H	p.D188H	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN			6	762	-			188	D->A: Significant reduction in rhodocytin binding.		C-type lectin.|Extracellular (Potential).		Q6UWX7|Q8NHR6	Missense_Mutation	SNP	ENST00000298527.6	37	c.562G>C	CCDS41752.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.193|7.193	0.591849|0.591849	0.13812|0.13812	.|.	.|.	ENSG00000165682|ENSG00000165682	ENST00000398939|ENST00000428126;ENST00000298527;ENST00000348658	.|T;T;T	.|0.21543	.|2.0;2.0;2.0	4.47|4.47	-0.885|-0.885	0.10593|0.10593	.|C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.|0.796847	.|0.10929	.|N	.|0.618580	.|T	.|0.24470	.|0.0593	L|L	0.31476|0.31476	0.935|0.935	0.09310|0.09310	N|N	1|1	.|B;B	.|0.28128	.|0.168;0.201	.|P;B	.|0.47206	.|0.541;0.307	.|T	.|0.53885	.|-0.8375	.|10	.|0.45353	.|T	.|0.12	.|.	8.0002|8.0002	0.30293|0.30293	0.0:0.3719:0.0:0.6281|0.0:0.3719:0.0:0.6281	.|.	.|155;188	.|Q9P126-2;Q9P126	.|.;CLC1B_HUMAN	.|H	-1|155;188;155	.|ENSP00000406338:D155H;ENSP00000298527:D188H;ENSP00000327169:D155H	.|ENSP00000298527:D188H	.|D	-|-	.|1	.|0	CLEC1B|CLEC1B	10037137|10037137	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.020000|0.020000	0.10135|0.10135	0.432000|0.432000	0.21461|0.21461	-0.073000|-0.073000	0.12842|0.12842	0.491000|0.491000	0.48974|0.48974	.|GAT		0.358	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1		NM_016509		19	37	0	0	0	0.010504	0	19	37		
TAS2R31	259290	broad.mit.edu	37	12	11183791	11183791	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:11183791G>C	ENST00000390675.2	-	1	215	c.144C>G	c.(142-144)ctC>ctG	p.L48L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	48					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						CCAGAGCAGTGAGAATCTGGT	0.368																																						uc001qzo.1		NaN																	0					0						c.(142-144)CTC>CTG		taste receptor, type 2, member 31							73.0	77.0	76.0					12																	11183791		1983	4236	6219	SO:0001819	synonymous_variant	259290				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11183791G>C	AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.144C>G	12.37:g.11183791G>C						PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.L48L	NM_176885	NP_795366	P59538	T2R31_HUMAN			1	216	-			48			Cytoplasmic (Potential).		P59547|Q17R84|Q645X5	Silent	SNP	ENST00000390675.2	37	c.144C>G	CCDS53747.1																																																																																				0.368	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400233.1		NM_176885		16	71	0	0	0	0.007413	0	16	71		
SLCO1B1	10599	broad.mit.edu	37	12	21325679	21325679	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:21325679G>C	ENST00000256958.2	+	3	276	c.180G>C	c.(178-180)gaG>gaC	p.E60D		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	60					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GGAGATTTGAGATATCCTCTT	0.313																																						uc001req.3		NaN																	0				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(178-180)GAG>GAC		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						143.0	131.0	135.0					12																	21325679		2203	4298	6501	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21325679G>C		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.180G>C	12.37:g.21325679G>C	ENSP00000256958:p.Glu60Asp						p.E60D	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			3	284	+			60			Extracellular (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.180G>C	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	0.371	-0.934209	0.02340	.	.	ENSG00000134538	ENST00000256958	T	0.57752	0.38	3.36	-2.2	0.06994	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.211757	0.48286	N	0.000184	T	0.14442	0.0349	N	0.01424	-0.875	0.22675	N	0.998863	B	0.02656	0.0	B	0.13407	0.009	T	0.27706	-1.0066	10	0.02654	T	1	.	3.7595	0.08599	0.4535:0.3356:0.1276:0.0833	.	60	Q9Y6L6	SO1B1_HUMAN	D	60	ENSP00000256958:E60D	ENSP00000256958:E60D	E	+	3	2	SLCO1B1	21216946	0.008000	0.16893	0.989000	0.46669	0.860000	0.49131	-1.263000	0.02850	-0.585000	0.05905	-0.802000	0.03209	GAG		0.313	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1		NM_006446		4	17	0	0	0	0.014758	0	4	17		
C2CD5	9847	broad.mit.edu	37	12	22659717	22659717	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:22659717C>T	ENST00000333957.4	-	10	1330	c.1075G>A	c.(1075-1077)Gga>Aga	p.G359R	C2CD5_ENST00000542676.1_Missense_Mutation_p.G359R|C2CD5_ENST00000446597.1_Missense_Mutation_p.G359R|C2CD5_ENST00000545552.1_Missense_Mutation_p.G350R|C2CD5_ENST00000544930.1_Missense_Mutation_p.G152R|C2CD5_ENST00000396028.2_Missense_Mutation_p.G350R|C2CD5_ENST00000536386.1_Missense_Mutation_p.G361R	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	359					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										ACAAGGAATCCAGGAGGAAAT	0.373																																						uc001rfq.2		NaN																	0				ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(1075-1077)GGA>AGA		hypothetical protein LOC9847							118.0	121.0	120.0					12																	22659717		2203	4300	6503	SO:0001583	missense	9847						protein binding	g.chr12:22659717C>T	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1075G>A	12.37:g.22659717C>T	ENSP00000334229:p.Gly359Arg					KIAA0528_uc010sir.1_Missense_Mutation_p.G152R|KIAA0528_uc010sis.1_Missense_Mutation_p.G359R|KIAA0528_uc010sit.1_Missense_Mutation_p.G361R|KIAA0528_uc010siu.1_Missense_Mutation_p.G359R|KIAA0528_uc001rfr.2_Missense_Mutation_p.G350R|KIAA0528_uc009ziy.1_Missense_Mutation_p.G361R	p.G359R	NM_014802	NP_055617	Q86YS7	K0528_HUMAN			10	1303	-			359					B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.1075G>A	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.4|27.4	4.824101|4.824101	0.90873|0.90873	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930;ENST00000544281|ENST00000535555	T;T;T;T;T;T;T;T|.	0.57107|.	0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.059081|.	0.64402|.	D|.	0.000002|.	T|.	0.65668|.	0.2713|.	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;B;D;P|.	0.63880|.	0.99;0.99;0.993;0.413;0.992;0.954|.	D;P;D;B;P;P|.	0.67382|.	0.951;0.851;0.923;0.254;0.89;0.617|.	T|.	0.63967|.	-0.6517|.	10|.	0.72032|.	D|.	0.01|.	-23.7888|-23.7888	12.5685|12.5685	0.56323|0.56323	0.0:0.9235:0.0:0.0765|0.0:0.9235:0.0:0.0765	.|.	361;359;152;361;350;359|.	F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7|.	.;.;.;.;.;K0528_HUMAN|.	R|X	359;359;361;350;359;350;152;111|34	ENSP00000334229:G359R;ENSP00000388756:G359R;ENSP00000439392:G361R;ENSP00000379345:G350R;ENSP00000441951:G359R;ENSP00000443204:G350R;ENSP00000445288:G152R;ENSP00000443479:G111R|.	ENSP00000334229:G359R|.	G|W	-|-	1|2	0|0	KIAA0528|KIAA0528	22550984|22550984	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.614000|5.614000	0.67695|0.67695	2.623000|2.623000	0.88846|0.88846	0.467000|0.467000	0.42956|0.42956	GGA|TGG		0.373	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1		NM_014802		16	65	0	0	0	0.006122	0	16	65		
ARNTL2	56938	broad.mit.edu	37	12	27521207	27521207	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:27521207G>C	ENST00000266503.5	+	2	62	c.44G>C	c.(43-45)aGa>aCa	p.R15T	ARNTL2_ENST00000261178.5_Missense_Mutation_p.R15T|ARNTL2_ENST00000546179.1_Missense_Mutation_p.R26T|ARNTL2_ENST00000311001.5_Missense_Mutation_p.R15T|ARNTL2_ENST00000544915.1_Missense_Mutation_p.R15T|ARNTL2_ENST00000395901.2_Missense_Mutation_p.R26T|ARNTL2_ENST00000542388.1_5'Flank			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	15					circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					AAAGTGTTGAGAGAGGAGAAC	0.413																																						uc001rht.1		NaN																	0				ovary(1)|skin(1)	2						c.(43-45)AGA>ACA		aryl hydrocarbon receptor nuclear							100.0	89.0	93.0					12																	27521207		2203	4300	6503	SO:0001583	missense	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27521207G>C	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.44G>C	12.37:g.27521207G>C	ENSP00000266503:p.Arg15Thr					ARNTL2_uc001rhw.2_Missense_Mutation_p.R26T|ARNTL2_uc010sjp.1_Missense_Mutation_p.R26T|ARNTL2_uc001rhu.1_Missense_Mutation_p.R15T|ARNTL2_uc009zji.1_Missense_Mutation_p.R15T|ARNTL2_uc001rhv.1_Missense_Mutation_p.R15T	p.R15T	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN			2	62	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		15					B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Missense_Mutation	SNP	ENST00000266503.5	37	c.44G>C	CCDS8712.1	.	.	.	.	.	.	.	.	.	.	G	7.248	0.602654	0.13939	.	.	ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000546179;ENST00000311001;ENST00000261178;ENST00000266503	T;T;T;T;T;T	0.08008	3.29;3.3;3.14;3.41;3.34;3.45	3.42	2.29	0.28610	.	1.951000	0.02959	N	0.142876	T	0.05502	0.0145	N	0.08118	0	0.09310	N	0.999997	B;B;B;B;B;B	0.18166	0.025;0.026;0.014;0.008;0.021;0.01	B;B;B;B;B;B	0.25291	0.059;0.023;0.033;0.033;0.015;0.019	T	0.38802	-0.9644	10	0.12430	T	0.62	.	8.0951	0.30824	0.0:0.0:0.2198:0.7802	.	26;15;26;15;15;15	F5H402;Q8WYA1-5;Q8WYA1-3;Q8WYA1-4;Q8WYA1-2;Q8WYA1	.;.;.;.;.;BMAL2_HUMAN	T	15;26;26;15;15;15	ENSP00000442438:R15T;ENSP00000379238:R26T;ENSP00000438545:R26T;ENSP00000312247:R15T;ENSP00000261178:R15T;ENSP00000266503:R15T	ENSP00000261178:R15T	R	+	2	0	ARNTL2	27412474	0.000000	0.05858	0.001000	0.08648	0.097000	0.18754	-0.060000	0.11712	0.700000	0.31782	-0.467000	0.05162	AGA		0.413	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1		NM_020183		11	46	0	0	0	0.004007	0	11	46		
DDX11	1663	broad.mit.edu	37	12	31256888	31256888	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:31256888G>A	ENST00000407793.2	+	27	3085	c.2834G>A	c.(2833-2835)aGa>aAa	p.R945K	DDX11_ENST00000350437.4_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.R945K|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	945					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCCAGGAGGAGAGTGTGGAGT	0.602										Multiple Myeloma(12;0.14)																												uc001rjt.1		NaN																	0				breast(3)	3						c.(2833-2835)AGA>AAA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11							28.0	40.0	36.0					12																	31256888		1324	2304	3628	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31256888G>A	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2834G>A	12.37:g.31256888G>A	ENSP00000384703:p.Arg945Lys	Multiple Myeloma(12;0.14)				DDX11_uc001rjr.1_3'UTR|DDX11_uc001rjs.1_3'UTR|DDX11_uc001rju.1_3'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R945K|DDX11_uc001rjw.1_3'UTR|DDX11_uc009zjn.1_RNA|DDX11_uc009zjo.1_Missense_Mutation_p.R114K	p.R945K	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			27	3085	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		945					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.2834G>A	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	1.444	-0.566764	0.03910	.	.	ENSG00000013573	ENST00000407793;ENST00000545668	T;T	0.72394	-0.65;-0.65	1.21	-1.29	0.09288	.	.	.	.	.	T	0.46852	0.1414	N	0.14661	0.345	0.09310	N	0.999999	B	0.12630	0.006	B	0.04013	0.001	T	0.22312	-1.0220	8	.	.	.	.	6.8966	0.24259	0.0:0.5304:0.4696:0.0	.	945	Q96FC9	DDX11_HUMAN	K	945	ENSP00000384703:R945K;ENSP00000440402:R945K	.	R	+	2	0	DDX11	31148155	0.008000	0.16893	0.000000	0.03702	0.048000	0.14542	0.177000	0.16801	-0.402000	0.07633	0.416000	0.27883	AGA		0.602	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1		NM_030653		4	6	0	0	0	0.009096	0	4	6		
LRRK2	120892	broad.mit.edu	37	12	40637439	40637439	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:40637439G>A	ENST00000298910.7	+	7	852	c.794G>A	c.(793-795)aGa>aAa	p.R265K	LRRK2_ENST00000343742.2_Missense_Mutation_p.R265K	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	265					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATGAGTGAAAGAATTCAAGAA	0.353																																						uc001rmg.3		NaN																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(793-795)AGA>AAA		leucine-rich repeat kinase 2							172.0	156.0	161.0					12																	40637439		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40637439G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.794G>A	12.37:g.40637439G>A	ENSP00000298910:p.Arg265Lys						p.R265K	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			7	915	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	265					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.794G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	2.538	-0.306946	0.05458	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.64438	-0.1;1.38;1.38	5.95	3.41	0.39046	Armadillo-like helical (1);Armadillo-type fold (1);	0.635601	0.17060	N	0.188611	T	0.26702	0.0653	N	0.02011	-0.69	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.29882	-0.9997	10	0.05620	T	0.96	.	5.4492	0.16552	0.674:0.1419:0.1841:0.0	.	265	Q5S007	LRRK2_HUMAN	K	149;265;265	ENSP00000398726:R149K;ENSP00000341930:R265K;ENSP00000298910:R265K	ENSP00000298910:R265K	R	+	2	0	LRRK2	38923706	0.995000	0.38212	0.945000	0.38365	0.704000	0.40688	2.002000	0.40835	0.401000	0.25424	-0.294000	0.09567	AGA		0.353	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1		XM_058513		16	103	0	0	0	0.004007	0	16	103		
SLC38A2	54407	broad.mit.edu	37	12	46761069	46761069	+	Silent	SNP	C	C	T	rs61761952		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:46761069C>T	ENST00000256689.5	-	5	813	c.369G>A	c.(367-369)ttG>ttA	p.L123L	SLC38A2_ENST00000551374.1_5'Flank|SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	123					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TGGCAGTCTTCAAAAGGAGAT	0.338																																					Ovarian(9;448 492 8335 28722 40361)	uc001rpg.2		NaN																	0				urinary_tract(1)|skin(1)	2						c.(367-369)TTG>TTA		solute carrier family 38, member 2							138.0	141.0	140.0					12																	46761069		2203	4300	6503	SO:0001819	synonymous_variant	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46761069C>T	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.369G>A	12.37:g.46761069C>T						SLC38A2_uc010sli.1_5'Flank|SLC38A2_uc001rph.2_Silent_p.L23L	p.L123L	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	5	809	-	Lung SC(27;0.192)|Renal(347;0.236)		123			Helical; (Potential).		Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	ENST00000256689.5	37	c.369G>A	CCDS8749.1																																																																																				0.338	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1				21	107	0	0	0	0.00333	0	21	107		
KMT2D	8085	broad.mit.edu	37	12	49434740	49434740	+	Silent	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:49434740G>T	ENST00000301067.7	-	31	6812	c.6813C>A	c.(6811-6813)ccC>ccA	p.P2271P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2271	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCGAGAGCAGGGGCTCGGAAG	0.632																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(6811-6813)CCC>CCA		myeloid/lymphoid or mixed-lineage leukemia 2							35.0	40.0	38.0					12																	49434740		1881	4101	5982	SO:0001819	synonymous_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49434740G>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6813C>A	12.37:g.49434740G>T		HNSCC(34;0.089)					p.P2271P	NM_003482	NP_003473	O14686	MLL2_HUMAN			31	6813	-			2271			Pro-rich.		O14687	Silent	SNP	ENST00000301067.7	37	c.6813C>A	CCDS44873.1																																																																																				0.632	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				7	38	1	0	3.86212e-05	0.008291	4.00269e-05	7	38		
DAZAP2	9802	broad.mit.edu	37	12	51634657	51634657	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:51634657C>T	ENST00000412716.3	+	3	751	c.135C>T	c.(133-135)ctC>ctT	p.L45L	DAZAP2_ENST00000449723.3_Silent_p.L45L|DAZAP2_ENST00000425012.2_Silent_p.L45L|DAZAP2_ENST00000551313.1_5'UTR|DAZAP2_ENST00000439799.2_Intron|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000549555.1_Silent_p.L45L|DAZAP2_ENST00000549732.2_Intron|DAZAP2_ENST00000604900.1_Silent_p.L45L			Q15038	DAZP2_HUMAN	DAZ associated protein 2	45	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						TCTTCTAGCTCTATCGTCCGA	0.473																																						uc010snd.1		NaN																	0					0						c.(133-135)CTC>CTT		DAZ associated protein 2 isoform c							88.0	89.0	89.0					12																	51634657		2203	4300	6503	SO:0001819	synonymous_variant	9802						WW domain binding	g.chr12:51634657C>T	D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.135C>T	12.37:g.51634657C>T						DAZAP2_uc001ryb.2_Silent_p.L45L|DAZAP2_uc010snc.1_Intron|DAZAP2_uc010sne.1_Intron|DAZAP2_uc010snf.1_Silent_p.L45L	p.L45L	NM_001136266	NP_001129738	Q15038	DAZP2_HUMAN			3	319	+			45			Pro-rich.		A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	Silent	SNP	ENST00000412716.3	37	c.135C>T	CCDS8809.1																																																																																				0.473	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405259.2		NM_014764		17	71	0	0	0	0.012319	0	17	71		
GALNT6	11226	broad.mit.edu	37	12	51759227	51759227	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:51759227G>A	ENST00000543196.2	-	4	1006	c.801C>T	c.(799-801)ttC>ttT	p.F267F	GALNT6_ENST00000356317.3_Silent_p.F267F			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	267	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGGCATCCAGGAACGTGAGCA	0.687																																						uc001ryk.2		NaN																	0				ovary(2)	2						c.(799-801)TTC>TTT		polypeptide N-acetylgalactosaminyltransferase 6							48.0	46.0	47.0					12																	51759227		2203	4300	6503	SO:0001819	synonymous_variant	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51759227G>A	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.801C>T	12.37:g.51759227G>A						GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Silent_p.F267F	p.F267F	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN			4	1026	-			267			Catalytic subdomain A.|Lumenal (Potential).		Q8IYH4|Q9H6G2|Q9UIV5	Silent	SNP	ENST00000543196.2	37	c.801C>T	CCDS8813.1																																																																																				0.687	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1		NM_007210		4	51	0	0	0	0.014758	0	4	51		
TENC1	23371	broad.mit.edu	37	12	53444019	53444019	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:53444019G>A	ENST00000314250.6	+	1	340	c.50G>A	c.(49-51)aGg>aAg	p.R17K	TENC1_ENST00000379902.3_Intron|RP11-983P16.4_ENST00000546793.1_RNA|TENC1_ENST00000546602.1_Missense_Mutation_p.R17K|RP11-983P16.4_ENST00000551890.1_RNA|TENC1_ENST00000552570.1_Missense_Mutation_p.R17K|TENC1_ENST00000451358.1_Missense_Mutation_p.R17K|TENC1_ENST00000314276.3_Intron|TENC1_ENST00000549700.1_Missense_Mutation_p.R17K|RP11-983P16.4_ENST00000550601.1_RNA	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	17					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTGGGGAGGAGGGACAGCAGC	0.692																																						uc001sbp.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(49-51)AGG>AAG		tensin like C1 domain containing phosphatase							11.0	15.0	13.0					12																	53444019		2192	4293	6485	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53444019G>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.50G>A	12.37:g.53444019G>A	ENSP00000319684:p.Arg17Lys					uc001sbk.1_Intron|TENC1_uc001sbl.2_Intron|TENC1_uc001sbm.2_Intron|TENC1_uc001sbn.2_Intron|TENC1_uc001sbo.1_Missense_Mutation_p.R17K	p.R17K	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN			1	185	+			17					A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.50G>A	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394813	0.83011	.	.	ENSG00000111077	ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44;-3.44	4.46	1.61	0.23674	.	.	.	.	.	D	0.84243	0.5429	N	0.08118	0	0.22034	N	0.999407	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.72276	-0.4341	9	0.29301	T	0.29	.	3.9835	0.09504	0.2007:0.0:0.6126:0.1867	.	17;17	Q63HR2;F8W661	TENC1_HUMAN;.	K	17	ENSP00000319684:R17K;ENSP00000393362:R17K;ENSP00000449363:R17K;ENSP00000447021:R17K;ENSP00000449361:R17K	ENSP00000319684:R17K	R	+	2	0	TENC1	51730286	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.503000	0.60407	0.250000	0.21479	0.561000	0.74099	AGG		0.692	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1		NM_170754		4	11	0	0	0	0.014758	0	4	11		
TESPA1	9840	broad.mit.edu	37	12	55356465	55356465	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:55356465G>A	ENST00000449076.1	-	9	1349	c.1217C>T	c.(1216-1218)cCa>cTa	p.P406L	TESPA1_ENST00000532804.1_Missense_Mutation_p.P268L|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000316577.8_Missense_Mutation_p.P406L|TESPA1_ENST00000524622.1_Missense_Mutation_p.P268L|TESPA1_ENST00000531122.1_Missense_Mutation_p.P268L	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	406					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											TATCTGAGCTGGGTCTGTGCT	0.507																																						uc001sgn.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1216-1218)CCA>CTA		hypothetical protein LOC9840							130.0	131.0	131.0					12																	55356465		1993	4174	6167	SO:0001583	missense	9840							g.chr12:55356465G>A	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1217C>T	12.37:g.55356465G>A	ENSP00000400892:p.Pro406Leu					KIAA0748_uc001sgl.3_Missense_Mutation_p.P268L|KIAA0748_uc001sgm.3_Missense_Mutation_p.P153L|KIAA0748_uc010spb.1_Missense_Mutation_p.P153L|KIAA0748_uc010spc.1_Missense_Mutation_p.P268L|KIAA0748_uc010spd.1_Missense_Mutation_p.P406L|KIAA0748_uc001sgo.3_RNA	p.P406L	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN			9	1327	-			406					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	c.1217C>T	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	G	3.252	-0.153039	0.06585	.	.	ENSG00000135426	ENST00000524622;ENST00000528240;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.41400	1.0;1.0;1.01;1.01;1.0	4.43	3.54	0.40534	.	0.803616	0.10975	N	0.613348	T	0.30230	0.0758	L	0.27053	0.805	0.18873	N	0.999988	B	0.12630	0.006	B	0.14023	0.01	T	0.17653	-1.0362	10	0.52906	T	0.07	0.6	8.2514	0.31724	0.1055:0.0:0.8945:0.0	.	406	A2RU30	K0748_HUMAN	L	268;6;268;406;406;268	ENSP00000435622:P268L;ENSP00000432030:P268L;ENSP00000400892:P406L;ENSP00000312679:P406L;ENSP00000433098:P268L	ENSP00000312679:P406L	P	-	2	0	KIAA0748	53642732	0.024000	0.19004	0.094000	0.20943	0.167000	0.22549	1.653000	0.37323	1.459000	0.47892	0.655000	0.94253	CCA		0.507	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1		NM_001098815		39	65	0	0	0	0.00874	0	39	65		
OR6C3	254786	broad.mit.edu	37	12	55725670	55725670	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:55725670C>T	ENST00000379667.1	+	1	186	c.186C>T	c.(184-186)aaC>aaT	p.N62N		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	62					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TCCTCCGGAACTTCTCTTTCT	0.403																																						uc010spj.1		NaN																	0				skin(1)	1						c.(184-186)AAC>AAT		olfactory receptor, family 6, subfamily C,							116.0	127.0	123.0					12																	55725670		2203	4300	6503	SO:0001819	synonymous_variant	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55725670C>T	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"""GPCR / Class A : Olfactory receptors"""	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.186C>T	12.37:g.55725670C>T							p.N62N	NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN			1	186	+			62			Helical; Name=2; (Potential).			Silent	SNP	ENST00000379667.1	37	c.186C>T	CCDS31819.1																																																																																				0.403	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1				21	91	0	0	0	0.014323	0	21	91		
PMEL	6490	broad.mit.edu	37	12	56351375	56351375	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:56351375G>A	ENST00000548747.1	-	6	1374	c.712C>T	c.(712-714)Ctg>Ttg	p.L238L	PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000360714.4_Silent_p.L238L|PMEL_ENST00000548493.1_Silent_p.L238L|PMEL_ENST00000536427.1_Silent_p.L238L|PMEL_ENST00000539511.1_Silent_p.L152L|PMEL_ENST00000550464.1_Silent_p.L152L|PMEL_ENST00000449260.2_Silent_p.L238L|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000552882.1_Silent_p.L238L			P40967	PMEL_HUMAN	premelanosome protein	238					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCAAAGGTCAGAGGCTGATTT	0.562																																						uc001sip.2		NaN																	0					0						c.(712-714)CTG>TTG		silver homolog							111.0	114.0	113.0					12																	56351375		2203	4300	6503	SO:0001819	synonymous_variant	6490				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	g.chr12:56351375G>A	AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.712C>T	12.37:g.56351375G>A						SILV_uc001siq.2_Silent_p.L238L|SILV_uc010spx.1_Silent_p.L152L|SILV_uc001sir.2_Silent_p.L238L	p.L238L	NM_006928	NP_008859	P40967	PMEL_HUMAN			6	743	-			238					B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Silent	SNP	ENST00000548747.1	37	c.712C>T	CCDS8897.1	.	.	.	.	.	.	.	.	.	.	G	8.670	0.902672	0.17760	.	.	ENSG00000185664	ENST00000549404	.	.	.	5.6	3.75	0.43078	.	.	.	.	.	T	0.47284	0.1437	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43782	-0.9370	4	.	.	.	-7.6454	3.3902	0.07286	0.157:0.136:0.5669:0.1402	.	.	.	.	F	125	.	.	S	-	2	0	PMEL	54637642	0.997000	0.39634	1.000000	0.80357	0.930000	0.56654	1.033000	0.30191	1.510000	0.48803	0.655000	0.94253	TCT		0.562	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409626.1		NM_006928		38	114	0	0	0	0.011902	0	38	114		
ERBB3	2065	broad.mit.edu	37	12	56480410	56480410	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:56480410G>A	ENST00000267101.3	+	4	957	c.517G>A	c.(517-519)Gag>Aag	p.E173K	ERBB3_ENST00000415288.2_Missense_Mutation_p.E114K|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	173					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCGAGATGCTGAGATAGTGGT	0.493																																						uc001sjh.2		NaN																	0				lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(517-519)GAG>AAG		erbB-3 isoform 1 precursor							281.0	223.0	242.0					12																	56480410		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56480410G>A	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.517G>A	12.37:g.56480410G>A	ENSP00000267101:p.Glu173Lys					ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.E114K|ERBB3_uc001sji.2_5'Flank	p.E173K	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		4	710	+			173			Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.517G>A	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.804002	0.31869	.	.	ENSG00000065361	ENST00000549061;ENST00000267101;ENST00000394099;ENST00000549672;ENST00000415288	T;D;T;D	0.82255	-0.69;-1.59;-0.69;-1.59	5.81	4.92	0.64577	.	0.349520	0.27302	N	0.019998	T	0.73055	0.3538	L	0.47716	1.5	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.62909	-0.6754	10	0.08179	T	0.78	.	8.2355	0.31622	0.0832:0.1578:0.759:0.0	.	173	P21860	ERBB3_HUMAN	K	114;173;173;114;114	ENSP00000449138:E114K;ENSP00000267101:E173K;ENSP00000449713:E114K;ENSP00000408340:E114K	ENSP00000267101:E173K	E	+	1	0	ERBB3	54766677	0.001000	0.12720	0.998000	0.56505	0.877000	0.50540	1.095000	0.30964	1.458000	0.47871	0.650000	0.86243	GAG		0.493	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3				44	102	0	0	0	0.01441	0	44	102		
TRHDE	29953	broad.mit.edu	37	12	72666768	72666768	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:72666768G>C	ENST00000261180.4	+	1	306	c.210G>C	c.(208-210)gcG>gcC	p.A70A	TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000550334.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	70					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGTGCGGGGCGAGTGCCACGC	0.706																																						uc001sxa.2		NaN																	0				ovary(2)|skin(1)	3						c.(208-210)GCG>GCC		thyrotropin-releasing hormone degrading enzyme							12.0	9.0	10.0					12																	72666768		2175	4244	6419	SO:0001819	synonymous_variant	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72666768G>C	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.210G>C	12.37:g.72666768G>C						LOC283392_uc010stv.1_5'UTR	p.A70A	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			1	240	+			70			Extracellular (Potential).		A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	c.210G>C	CCDS9004.1																																																																																				0.706	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1		NM_013381		4	4	0	0	0	0.009096	0	4	4		
GLIPR1L1	256710	broad.mit.edu	37	12	75728668	75728668	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:75728668G>A	ENST00000378695.4	+	1	250	c.160G>A	c.(160-162)Gac>Aac	p.D54N	CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000312442.2_Missense_Mutation_p.D54N			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	54	SCP.				binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						TCCCGCGGCCGACATGAAATA	0.473											OREG0021998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sxo.2		NaN																	0					0						c.(160-162)GAC>AAC		GLI pathogenesis-related 1 like 1							70.0	70.0	70.0					12																	75728668		2203	4300	6503	SO:0001583	missense	256710					extracellular region		g.chr12:75728668G>A	BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.160G>A	12.37:g.75728668G>A	ENSP00000367967:p.Asp54Asn		OREG0021998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1162	CAPS2_uc001sxm.3_Intron|CAPS2_uc009zsa.2_Intron|GLIPR1L1_uc001sxn.2_Missense_Mutation_p.D54N	p.D54N	NM_152779	NP_689992	Q6UWM5	GPRL1_HUMAN			1	206	+			54					Q96L06	Missense_Mutation	SNP	ENST00000378695.4	37	c.160G>A		.	.	.	.	.	.	.	.	.	.	G	1.026	-0.683447	0.03353	.	.	ENSG00000173401	ENST00000378695;ENST00000312442	T;T	0.37235	1.21;1.21	4.81	-8.15	0.01065	CAP domain (3);	0.552249	0.18619	N	0.135903	T	0.09291	0.0229	N	0.01522	-0.82	0.19300	N	0.999971	B;B	0.11235	0.001;0.004	B;B	0.14023	0.01;0.006	T	0.24440	-1.0160	10	0.02654	T	1	.	14.6351	0.68682	0.6673:0.0:0.3327:0.0	.	54;54	Q6UWM5;Q6UWM5-2	GPRL1_HUMAN;.	N	54	ENSP00000367967:D54N;ENSP00000310770:D54N	ENSP00000310770:D54N	D	+	1	0	GLIPR1L1	74014935	0.000000	0.05858	0.006000	0.13384	0.089000	0.18198	-1.133000	0.03232	-1.531000	0.01749	-1.166000	0.01754	GAC		0.473	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405714.1		NM_152779		15	46	0	0	0	0.004007	0	15	46		
LRRIQ1	84125	broad.mit.edu	37	12	85434370	85434370	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:85434370G>A	ENST00000393217.2	+	3	296	c.235G>A	c.(235-237)Gat>Aat	p.D79N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	79										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GGAAGATACTGATATTTTAAG	0.313																																						uc001tac.2		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(235-237)GAT>AAT		leucine-rich repeats and IQ motif containing 1							88.0	93.0	91.0					12																	85434370		2203	4292	6495	SO:0001583	missense	84125							g.chr12:85434370G>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.235G>A	12.37:g.85434370G>A	ENSP00000376910:p.Asp79Asn					LRRIQ1_uc001tab.1_Missense_Mutation_p.D79N|LRRIQ1_uc001taa.1_Missense_Mutation_p.D79N|LRRIQ1_uc001tad.2_5'UTR	p.D79N	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	3	346	+			79					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.235G>A	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383133	0.42207	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393212;ENST00000393217	T;T	0.61392	0.94;0.11	4.53	4.53	0.55603	.	0.164319	0.28262	N	0.015983	T	0.55130	0.1901	L	0.54323	1.7	0.27487	N	0.952409	P;B	0.36065	0.535;0.048	B;B	0.37346	0.247;0.043	T	0.59337	-0.7473	10	0.66056	D	0.02	.	14.5394	0.67982	0.0:0.0:1.0:0.0	.	79;79	Q96JM4;C9JI57	LRIQ1_HUMAN;.	N	79	ENSP00000376906:D79N;ENSP00000376910:D79N	ENSP00000256007:D79N	D	+	1	0	LRRIQ1	83958501	1.000000	0.71417	0.998000	0.56505	0.472000	0.32918	3.323000	0.52014	2.239000	0.73571	0.404000	0.27445	GAT		0.313	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2		NM_032165		9	54	0	0	0	0.013537	0	9	54		
NT5DC3	51559	broad.mit.edu	37	12	104190738	104190738	+	Silent	SNP	G	G	A	rs367719335		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:104190738G>A	ENST00000392876.3	-	6	727	c.687C>T	c.(685-687)tgC>tgT	p.C229C	NT5DC3_ENST00000465502.1_5'UTR	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	229						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						ATTCATTCACGCAGGACAGGA	0.478																																						uc010swe.1		NaN																	0				ovary(2)|skin(1)	3						c.(685-687)TGC>TGT		5'-nucleotidase domain containing 3		G		0,4406		0,0,2203	192.0	163.0	173.0		687	-11.2	0.7	12		173	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	NT5DC3	NM_001031701.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		229/549	104190738	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	51559						hydrolase activity|metal ion binding	g.chr12:104190738G>A	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.687C>T	12.37:g.104190738G>A							p.C229C	NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN			6	728	-			229					Q9NUM7|Q9P2T2|Q9P2T3	Silent	SNP	ENST00000392876.3	37	c.687C>T	CCDS41824.1																																																																																				0.478	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2		NM_016575		20	103	0	0	0	0.010504	0	20	103		
TCP11L2	255394	broad.mit.edu	37	12	106740114	106740114	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:106740114C>G	ENST00000299045.3	+	10	1540	c.1366C>G	c.(1366-1368)Caa>Gaa	p.Q456E		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	456										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TCCAAGCCCTCAAAAATGCAT	0.398																																						uc001tln.2		NaN																	0				ovary(3)	3						c.(1366-1368)CAA>GAA		t-complex 11 (mouse) like 2							62.0	57.0	58.0					12																	106740114		2203	4300	6503	SO:0001583	missense	255394							g.chr12:106740114C>G	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.1366C>G	12.37:g.106740114C>G	ENSP00000299045:p.Gln456Glu						p.Q456E	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN			10	1540	+			456					B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	c.1366C>G	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279395	0.40294	.	.	ENSG00000166046	ENST00000299045	T	0.11277	2.79	5.69	4.78	0.61160	.	0.564429	0.19849	N	0.104680	T	0.11324	0.0276	M	0.64080	1.96	0.80722	D	1	B	0.13145	0.007	B	0.25759	0.063	T	0.06752	-1.0809	10	0.02654	T	1	3.8035	9.9117	0.41411	0.0:0.7878:0.1402:0.072	.	456	Q8N4U5	T11L2_HUMAN	E	456	ENSP00000299045:Q456E	ENSP00000299045:Q456E	Q	+	1	0	TCP11L2	105264244	0.032000	0.19561	0.989000	0.46669	0.990000	0.78478	1.700000	0.37815	1.366000	0.46076	0.655000	0.94253	CAA		0.398	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1		NM_152772		12	21	0	0	0	0.010729	0	12	21		
TCP11L2	255394	broad.mit.edu	37	12	106740204	106740204	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:106740204C>T	ENST00000299045.3	+	10	1630	c.1456C>T	c.(1456-1458)Ctc>Ttc	p.L486F		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	486										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						CATTGTGAATCTCAACAAACA	0.453																																						uc001tln.2		NaN																	0				ovary(3)	3						c.(1456-1458)CTC>TTC		t-complex 11 (mouse) like 2							89.0	80.0	83.0					12																	106740204		2203	4300	6503	SO:0001583	missense	255394							g.chr12:106740204C>T	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.1456C>T	12.37:g.106740204C>T	ENSP00000299045:p.Leu486Phe						p.L486F	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN			10	1630	+			486					B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	c.1456C>T	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	C	7.928	0.740002	0.15642	.	.	ENSG00000166046	ENST00000299045	T	0.10099	2.91	5.69	5.69	0.88448	.	0.179187	0.48286	D	0.000191	T	0.05823	0.0152	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.16289	0.015	T	0.42699	-0.9436	10	0.27785	T	0.31	-7.2143	9.9633	0.41710	0.0:0.8449:0.0:0.1551	.	486	Q8N4U5	T11L2_HUMAN	F	486	ENSP00000299045:L486F	ENSP00000299045:L486F	L	+	1	0	TCP11L2	105264334	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.993000	0.49425	2.685000	0.91497	0.655000	0.94253	CTC		0.453	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1		NM_152772		7	36	0	0	0	0.00308	0	7	36		
PRDM4	11108	broad.mit.edu	37	12	108145485	108145485	+	Missense_Mutation	SNP	T	T	A	rs148244009	byFrequency	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:108145485T>A	ENST00000228437.5	-	5	1292	c.833A>T	c.(832-834)aAt>aTt	p.N278I	PRDM4_ENST00000547268.1_5'Flank|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	278					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						AGACATGCCATTGACCCGACT	0.557																																						uc001tmp.2		NaN																	0				breast(1)|skin(1)	2						c.(832-834)AAT>ATT		PR domain containing 4							118.0	103.0	108.0					12																	108145485		2203	4300	6503	SO:0001583	missense	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108145485T>A	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.833A>T	12.37:g.108145485T>A	ENSP00000228437:p.Asn278Ile					PRDM4_uc001tmq.2_RNA	p.N278I	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN			5	1270	-			278					Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	c.833A>T	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.092718	0.36952	.	.	ENSG00000110851	ENST00000228437;ENST00000550659	T;T	0.64260	2.91;-0.09	6.07	-3.82	0.04281	.	0.492115	0.24305	N	0.039684	T	0.36331	0.0963	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.14023	0.01	T	0.19811	-1.0294	10	0.45353	T	0.12	-1.9703	12.9455	0.58369	0.0:0.613:0.1099:0.2772	.	278	Q9UKN5	PRDM4_HUMAN	I	278;23	ENSP00000228437:N278I;ENSP00000449295:N23I	ENSP00000228437:N278I	N	-	2	0	PRDM4	106669615	0.231000	0.23751	0.708000	0.30435	0.955000	0.61496	-0.220000	0.09215	-0.556000	0.06134	0.533000	0.62120	AAT		0.557	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1		NM_012406		11	40	0	0	0	0.00245	0	11	40		
VSIG10	54621	broad.mit.edu	37	12	118533368	118533368	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:118533368G>A	ENST00000359236.5	-	2	607	c.331C>T	c.(331-333)Cag>Tag	p.Q111*	VSIG10_ENST00000536905.1_5'UTR	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	111	Ig-like C2-type 1.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TGGAACCACTGAGTCACATTC	0.592																																						uc001tws.2		NaN																	0					0						c.(331-333)CAG>TAG		V-set and immunoglobulin domain containing 10							90.0	96.0	94.0					12																	118533368		2063	4224	6287	SO:0001587	stop_gained	54621					integral to membrane		g.chr12:118533368G>A		CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.331C>T	12.37:g.118533368G>A	ENSP00000352172:p.Gln111*						p.Q111*	NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN			2	665	-			111			Ig-like C2-type 1.|Extracellular (Potential).		Q9NWQ7	Nonsense_Mutation	SNP	ENST00000359236.5	37	c.331C>T	CCDS44992.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928071	0.92389	.	.	ENSG00000176834	ENST00000359236;ENST00000538357	.	.	.	4.99	4.09	0.47781	.	0.851272	0.09824	N	0.751073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-8.6948	10.3761	0.44083	0.0:0.0:0.6429:0.3571	.	.	.	.	X	111	.	ENSP00000352172:Q111X	Q	-	1	0	VSIG10	117017751	0.011000	0.17503	0.053000	0.19242	0.987000	0.75469	1.848000	0.39309	1.309000	0.44985	0.655000	0.94253	CAG		0.592	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2		NM_019086		21	133	0	0	0	0.004656	0	21	133		
CIT	11113	broad.mit.edu	37	12	120173111	120173111	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:120173111C>T	ENST00000261833.7	-	24	2936	c.2884G>A	c.(2884-2886)Gaa>Aaa	p.E962K	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.E1004K	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	962					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTGTTGAGTTCAGCGTTGTCC	0.478																																						uc001txi.1		NaN																	0				ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(2884-2886)GAA>AAA		citron							261.0	231.0	241.0					12																	120173111		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120173111C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2884G>A	12.37:g.120173111C>T	ENSP00000261833:p.Glu962Lys					CIT_uc001txh.1_Missense_Mutation_p.E496K|CIT_uc001txj.1_Missense_Mutation_p.E1004K	p.E962K	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	24	2937	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	962			Potential.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.2884G>A	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439207	0.83885	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.65364	-0.09;-0.15	5.06	5.06	0.68205	.	0.056941	0.64402	D	0.000002	T	0.50171	0.1600	N	0.24115	0.695	0.58432	D	0.999999	P;P;P	0.48694	0.914;0.598;0.59	B;B;B	0.41510	0.359;0.19;0.275	T	0.47086	-0.9144	10	0.20519	T	0.43	.	18.797	0.91999	0.0:1.0:0.0:0.0	.	1004;962;495	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	K	1004;962	ENSP00000376306:E1004K;ENSP00000261833:E962K	ENSP00000261833:E962K	E	-	1	0	CIT	118657494	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.776000	0.85560	2.505000	0.84491	0.655000	0.94253	GAA		0.478	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4		NM_007174		10	87	0	0	0	0.008291	0	10	87		
TRIAP1	51499	broad.mit.edu	37	12	120884567	120884567	+	5'Flank	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:120884567C>T	ENST00000546954.1	-	0	0				GATC_ENST00000551765.1_Silent_p.F63F|TRIAP1_ENST00000302432.3_5'Flank|AL021546.6_ENST00000551806.1_Missense_Mutation_p.R95C	NM_016399.2	NP_057483.1	O43715	TRIA1_HUMAN	TP53 regulated inhibitor of apoptosis 1						cellular response to UV (GO:0034644)|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)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|phospholipid transport (GO:0015914)|positive regulation of phospholipid transport (GO:2001140)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of membrane lipid distribution (GO:0097035)	mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	p53 binding (GO:0002039)					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTATCGCCTTCGCCGACCGGC	0.667																																						uc010szi.1		NaN																	0					0						c.(187-189)TTC>TTT		glutamyl-tRNA(Gln) amidotransferase, subunit C							37.0	41.0	40.0					12																	120884567		2200	4298	6498	SO:0001631	upstream_gene_variant	283459				regulation of translational fidelity			g.chr12:120884567C>T		CCDS9198.1	12q24.31	2012-10-15			ENSG00000170855	ENSG00000170855			26937	protein-coding gene	gene with protein product	"""p53-inducible cell-survival factor"", ""mitochondrial distribution and morphology 35 homolog (S. cerevisiae)"""	614943				11042152, 15735003	Standard	NM_016399		Approved	P53CSV, WF-1, HSPC132, p53CSV, MDM35	uc001tyg.3	O43715	OTTHUMG00000047787		12.37:g.120884567C>T	Exception_encountered					TRIAP1_uc001tyg.2_5'Flank	p.F63F	NM_176818	NP_789788	O43716	GATCL_HUMAN			2	189	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		63					B2R4Z7|Q5RKS5|Q6LCA7	Silent	SNP	ENST00000546954.1	37	c.189C>T	CCDS9198.1	.	.	.	.	.	.	.	.	.	.	C	6.069	0.381044	0.11466	.	.	ENSG00000111780	ENST00000551806	.	.	.	5.08	-2.85	0.05734	.	.	.	.	.	T	0.63082	0.2481	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61931	-0.6961	4	.	.	.	-9.015	13.2933	0.60282	0.0:0.339:0.0:0.661	.	.	.	.	C	95	.	.	R	+	1	0	GATC	119368950	0.992000	0.36948	0.984000	0.44739	0.117000	0.20001	0.219000	0.17641	-0.408000	0.07565	0.644000	0.83932	CGC		0.667	TRIAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108980.3		NM_016399		12	29	0	0	0	0.00245	0	12	29		
RNF10	9921	broad.mit.edu	37	12	120995453	120995453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:120995453G>A	ENST00000325954.4	+	6	1396	c.935G>A	c.(934-936)tGg>tAg	p.W312*	RNF10_ENST00000413266.2_Nonsense_Mutation_p.W312*	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	312					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAATCCAAATGGATGAATGTA	0.413																																						uc001typ.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(934-936)TGG>TAG		ring finger protein 10							272.0	225.0	241.0					12																	120995453		2203	4300	6503	SO:0001587	stop_gained	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:120995453G>A	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.935G>A	12.37:g.120995453G>A	ENSP00000322242:p.Trp312*					RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Nonsense_Mutation_p.W218*	p.W312*	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN			6	1418	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		312					Q92550|Q9NPP8|Q9ULW4	Nonsense_Mutation	SNP	ENST00000325954.4	37	c.935G>A	CCDS9201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.237222|4.237222	0.79800|0.79800	.|.	.|.	ENSG00000022840|ENSG00000022840	ENST00000542207;ENST00000541955|ENST00000325954;ENST00000458409;ENST00000413266	.|.	.|.	.|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.59542|.	0.2201|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.56032|.	-0.8046|.	3|.	.|0.19147	.|T	.|0.46	.|.	15.8576|15.8576	0.78994|0.78994	0.0:0.0:0.8638:0.1362|0.0:0.0:0.8638:0.1362	.|.	.|.	.|.	.|.	R|X	110;105|312	.|.	.|ENSP00000322242:W312X	G|W	+|+	1|2	0|0	RNF10|RNF10	119479836|119479836	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.863000|7.863000	0.87023|0.87023	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GGA|TGG		0.413	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4				21	93	0	0	0	0.016522	0	21	93		
BRI3BP	140707	broad.mit.edu	37	12	125509837	125509837	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:125509837G>A	ENST00000341446.8	+	3	708	c.617G>A	c.(616-618)cGa>cAa	p.R206Q		NM_080626.5	NP_542193.3			BRI3 binding protein											large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		TTCTACTGGCGAAGCAGTCCC	0.632																																						uc001uha.1		NaN																	0				ovary(1)	1						c.(616-618)CGA>CAA		BRI3-binding protein							45.0	43.0	44.0					12																	125509837		2203	4300	6503	SO:0001583	missense	140707					integral to membrane|mitochondrial outer membrane		g.chr12:125509837G>A	AF284094	CCDS9262.1	12q24.1	2008-08-04			ENSG00000184992	ENSG00000184992			14251	protein-coding gene	gene with protein product		615627				11860200, 17765869	Standard	NM_080626		Approved	BNAS1, KG19, HCCR-2	uc001uha.1	Q8WY22	OTTHUMG00000168548	ENST00000341446.8:c.617G>A	12.37:g.125509837G>A	ENSP00000340761:p.Arg206Gln						p.R206Q	NM_080626	NP_542193	Q8WY22	BRI3B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)	3	760	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		206						Missense_Mutation	SNP	ENST00000341446.8	37	c.617G>A	CCDS9262.1	.	.	.	.	.	.	.	.	.	.	g	35	5.459426	0.96240	.	.	ENSG00000184992	ENST00000341446	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.77103	0.4081	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78715	-0.2096	9	0.87932	D	0	-14.9086	19.2493	0.93917	0.0:0.0:1.0:0.0	.	206	Q8WY22	BRI3B_HUMAN	Q	206	.	ENSP00000340761:R206Q	R	+	2	0	BRI3BP	124075790	1.000000	0.71417	0.839000	0.33178	0.884000	0.51177	7.396000	0.79891	2.538000	0.85594	0.556000	0.70494	CGA		0.632	BRI3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400200.2		NM_080626		3	19	0	0	0	0.014758	0	3	19		
RIMBP2	23504	broad.mit.edu	37	12	130919336	130919336	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:130919336G>A	ENST00000261655.4	-	11	2308	c.2145C>T	c.(2143-2145)ttC>ttT	p.F715F	RIMBP2_ENST00000536002.1_Silent_p.F623F|RIMBP2_ENST00000535703.1_Silent_p.F623F	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	715					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCCTCCTCTTGAAGTCTGGAG	0.612																																						uc001uil.2		NaN																	0				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(2143-2145)TTC>TTT		RIM-binding protein 2							73.0	80.0	78.0					12																	130919336		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130919336G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2145C>T	12.37:g.130919336G>A						RIMBP2_uc001uim.2_Silent_p.F623F|RIMBP2_uc001uin.1_Silent_p.F374F	p.F715F	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	11	2309	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	715					Q96ID2	Silent	SNP	ENST00000261655.4	37	c.2145C>T	CCDS31925.1																																																																																				0.612	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1		NM_015347		7	67	0	0	0	0.00308	0	7	67		
EP400	57634	broad.mit.edu	37	12	132502128	132502128	+	Silent	SNP	C	C	T	rs138508770		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:132502128C>T	ENST00000333577.4	+	21	4189	c.4080C>T	c.(4078-4080)atC>atT	p.I1360I	EP400_ENST00000389561.2_Silent_p.I1324I|EP400_ENST00000330386.6_Silent_p.I1324I|EP400_ENST00000332482.4_Silent_p.I1287I|EP400_ENST00000389562.2_Silent_p.I1323I			Q96L91	EP400_HUMAN	E1A binding protein p400	1360	Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCCTGAGCATCCTTGTGCGGC	0.607																																						uc001ujn.2		NaN																	0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(3970-3972)ATC>ATT		E1A binding protein p400							86.0	80.0	82.0					12																	132502128		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132502128C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4080C>T	12.37:g.132502128C>T						EP400_uc001ujl.2_Silent_p.I1323I|EP400_uc001ujm.2_Silent_p.I1324I	p.I1324I	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	19	4007	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1360			Interactions with RUVBL1 and RUVBL2.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.3972C>T																																																																																					0.607	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015409		28	59	0	0	0	0.009535	0	28	59		
EP400	57634	broad.mit.edu	37	12	132522554	132522554	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr12:132522554G>A	ENST00000333577.4	+	33	6337	c.6228G>A	c.(6226-6228)ccG>ccA	p.P2076P	EP400_ENST00000389561.2_Silent_p.P2040P|EP400_ENST00000330386.6_Silent_p.P1959P|EP400_ENST00000332482.4_Silent_p.P2003P|EP400_ENST00000389562.2_Silent_p.P2039P			Q96L91	EP400_HUMAN	E1A binding protein p400	2076					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTGGCTTCCCGGTCAAAGCTG	0.463																																						uc001ujn.2		NaN																	0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(6118-6120)CCG>CCA		E1A binding protein p400							210.0	192.0	198.0					12																	132522554		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132522554G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.6228G>A	12.37:g.132522554G>A						EP400_uc001ujl.2_Silent_p.P2039P|EP400_uc001ujm.2_Silent_p.P1959P	p.P2040P	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	31	6155	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2076					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.6120G>A																																																																																					0.463	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015409		49	82	0	0	0	0.01441	0	49	82		
RB1	5925	broad.mit.edu	37	13	49039354	49039354	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr13:49039354C>A	ENST00000267163.4	+	23	2477	c.2339C>A	c.(2338-2340)tCa>tAa	p.S780*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	780	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCTACCTTGTCACCAATACCT	0.388		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		26	Whole gene deletion(15)|Unknown(11)	p.?(7)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(2338-2340)TCA>TAA		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						159.0	165.0	163.0					13																	49039354		2203	4300	6503	SO:0001587	stop_gained	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039354C>A	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2339C>A	13.37:g.49039354C>A	ENSP00000267163:p.Ser780*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.S780*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	23	2505	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	780			Interaction with LIMD1.|Domain C; mediates interaction with E4F1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.2339C>A	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	40	8.501294	0.98838	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1935	0.98237	0.0:1.0:0.0:0.0	.	.	.	.	X	759;780	.	ENSP00000267163:S780X	S	+	2	0	RB1	47937355	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.280000	0.78610	2.779000	0.95612	0.591000	0.81541	TCA		0.388	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1				46	67	1	0	1.00798e-23	0.01441	1.08413e-23	46	67		
PCDH17	27253	broad.mit.edu	37	13	58208645	58208645	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr13:58208645G>A	ENST00000377918.3	+	1	1991	c.1965G>A	c.(1963-1965)gtG>gtA	p.V655V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	655	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGGAGGACGTGACGCCCGTGG	0.637																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NaN																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(1963-1965)GTG>GTA		protocadherin 17 precursor							100.0	98.0	99.0					13																	58208645		2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208645G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1965G>A	13.37:g.58208645G>A						PCDH17_uc010aec.1_Silent_p.V655V	p.V655V	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2857	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	655			Extracellular (Potential).|Cadherin 6.		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.1965G>A	CCDS31986.1																																																																																				0.637	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1		NM_001040429		61	107	0	0	0	0.01441	0	61	107		
CUL4A	8451	broad.mit.edu	37	13	113900284	113900284	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr13:113900284G>T	ENST00000375440.4	+	15	1629	c.1545G>T	c.(1543-1545)caG>caT	p.Q515H	CUL4A_ENST00000375441.3_Missense_Mutation_p.Q415H|CUL4A_ENST00000451881.1_Missense_Mutation_p.Q415H|CUL4A_ENST00000326335.4_Missense_Mutation_p.Q415H	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	515					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			TGCAGAATCAGAGTGACTCAG	0.383																																						uc010tjy.1		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(1543-1545)CAG>CAT		cullin 4A isoform 1							85.0	72.0	76.0					13																	113900284		2203	4300	6503	SO:0001583	missense	8451				cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr13:113900284G>T	U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1545G>T	13.37:g.113900284G>T	ENSP00000364589:p.Gln515His					CUL4A_uc010tjx.1_Missense_Mutation_p.Q415H|CUL4A_uc010agu.2_Missense_Mutation_p.Q376H|CUL4A_uc010tjz.1_Missense_Mutation_p.Q194H	p.Q515H	NM_001008895	NP_001008895	Q13619	CUL4A_HUMAN	all cancers(43;0.112)		16	1556	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	515					A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Missense_Mutation	SNP	ENST00000375440.4	37	c.1545G>T	CCDS41908.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282255	0.23392	.	.	ENSG00000139842	ENST00000375441;ENST00000451881;ENST00000326335;ENST00000375440	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	4.97	-3.35	0.04928	Cullin, N-terminal (1);Cullin homology (3);	0.110717	0.64402	D	0.000006	T	0.60104	0.2243	L	0.48218	1.51	0.49582	D	0.999807	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.009	T	0.26018	-1.0115	10	0.33940	T	0.23	-36.7203	8.6477	0.34016	0.5689:0.1027:0.3285:0.0	.	515;515	Q13619;A8MSH7	CUL4A_HUMAN;.	H	415;415;415;515	ENSP00000364590:Q415H;ENSP00000389118:Q415H;ENSP00000322132:Q415H;ENSP00000364589:Q515H	ENSP00000322132:Q415H	Q	+	3	2	CUL4A	112948285	0.405000	0.25336	0.950000	0.38849	0.624000	0.37722	-0.341000	0.07811	-0.785000	0.04522	-0.259000	0.10710	CAG		0.383	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045888.3		NM_003589		10	26	1	0	2.27111e-07	0.013537	2.38114e-07	10	26		
RNASE3	6037	broad.mit.edu	37	14	21360150	21360150	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:21360150G>T	ENST00000304639.3	+	2	363	c.305G>T	c.(304-306)aGa>aTa	p.R102I		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	102					antibacterial humoral response (GO:0019731)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	CATCGGAGTAGATTCCGGGTG	0.418																																						uc001vyj.2		NaN																	0					0						c.(304-306)AGA>ATA		ribonuclease, RNase A family, 3 (eosinophil	Pranlukast(DB01411)						103.0	106.0	105.0					14																	21360150		2191	4300	6491	SO:0001583	missense	6037				defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21360150G>T	X55990	CCDS9560.1	14q11.2	2014-03-13	2010-05-07		ENSG00000169397	ENSG00000169397	3.1.27.-	"""Ribonucleases, RNase A"""	10046	protein-coding gene	gene with protein product	"""eosinophil cationic protein"""	131398		RNS3		1577491	Standard	NM_002935		Approved	ECP	uc001vyj.3	P12724	OTTHUMG00000029604	ENST00000304639.3:c.305G>T	14.37:g.21360150G>T	ENSP00000302324:p.Arg102Ile						p.R102I	NM_002935	NP_002926	P12724	ECP_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	359	+	all_cancers(95;0.00453)		102					Q4VBC1|Q8WTP7|Q8WZ62|Q9GZN9	Missense_Mutation	SNP	ENST00000304639.3	37	c.305G>T	CCDS9560.1	.	.	.	.	.	.	.	.	.	.	g	7.224	0.597873	0.13939	.	.	ENSG00000169397	ENST00000304639	T	0.73363	-0.74	2.38	1.47	0.22746	Ribonuclease A, domain (4);	1.792350	0.03438	U	0.208807	T	0.68007	0.2954	L	0.45137	1.4	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.53151	-0.8479	10	0.51188	T	0.08	.	6.9516	0.24548	0.0:0.7011:0.2989:0.0	.	102	P12724	ECP_HUMAN	I	102	ENSP00000302324:R102I	ENSP00000302324:R102I	R	+	2	0	RNASE3	20429990	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.302000	0.02746	0.555000	0.29079	-0.437000	0.05841	AGA		0.418	RNASE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073795.2		NM_002935		34	67	1	0	2.05212e-20	0.005524	2.19841e-20	34	67		
MYH7	4625	broad.mit.edu	37	14	23886487	23886487	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:23886487G>A	ENST00000355349.3	-	32	4556	c.4394C>T	c.(4393-4395)tCg>tTg	p.S1465L	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1465					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCCAGCTCCGACTGCGACTC	0.602																																						uc001wjx.2		NaN																	0				ovary(3)|skin(1)	4						c.(4393-4395)TCG>TTG		myosin, heavy chain 7, cardiac muscle, beta							79.0	79.0	79.0					14																	23886487		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23886487G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4394C>T	14.37:g.23886487G>A	ENSP00000347507:p.Ser1465Leu						p.S1465L	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	32	4500	-	all_cancers(95;2.54e-05)		1465			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.4394C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440593	0.63067	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.83163	-1.69	5.37	5.37	0.77165	Myosin tail (1);	.	.	.	.	T	0.77618	0.4157	N	0.26042	0.785	0.34130	D	0.665148	B	0.31413	0.322	B	0.36567	0.228	T	0.83275	-0.0041	9	0.87932	D	0	.	14.5043	0.67743	0.0719:0.0:0.9281:0.0	.	1465	P12883	MYH7_HUMAN	L	1465;1470	ENSP00000347507:S1465L	ENSP00000347507:S1465L	S	-	2	0	MYH7	22956327	0.060000	0.20803	0.997000	0.53966	0.951000	0.60555	0.934000	0.28910	2.793000	0.96121	0.655000	0.94253	TCG		0.602	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3		NM_000257		23	64	0	0	0	0.00333	0	23	64		
IPO4	79711	broad.mit.edu	37	14	24647296	24647296	+	IGR	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:24647296G>C	ENST00000354464.6	-	0	3646				REC8_ENST00000311457.3_Splice_Site|REC8_ENST00000559919.1_Splice_Site	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CCACTCAACAGAGGAGGCCCC	0.622																																						uc001wmr.2		NaN																	0					0						c.e14-1		REC8 homolog							35.0	41.0	39.0					14																	24647296		1865	4097	5962	SO:0001628	intergenic_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24647296G>C	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801		14.37:g.24647296G>C						REC8_uc001wms.2_Splice_Site_p.R289_splice	p.R289_splice	NM_005132	NP_005123	O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	14	1292	+								B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Splice_Site	SNP	ENST00000354464.6	37	c.865_splice	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	G	9.541	1.113352	0.20795	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	.	.	.	4.81	3.89	0.44902	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9681	0.47424	0.0:0.1892:0.8108:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	REC8	23717136	0.225000	0.23685	0.448000	0.26945	0.028000	0.11728	0.884000	0.28214	1.351000	0.45789	0.423000	0.28283	.		0.622	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4		NM_024658		16	49	0	0	0	0.008871	0	16	49		
EAPP	55837	broad.mit.edu	37	14	35008795	35008795	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:35008795C>T	ENST00000250454.3	-	1	121	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	RP11-671J11.7_ENST00000553697.1_RNA	NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	14					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		CTAGGCTCTTCAACCGCGTAG	0.627																																						uc001wsd.1		NaN																	0				ovary(1)	1						c.(40-42)GAA>AAA		E2F-associated phosphoprotein							35.0	45.0	42.0					14																	35008795		1918	4122	6040	SO:0001583	missense	55837				negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane		g.chr14:35008795C>T	AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"""chromosome 14 open reading frame 11"""	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.40G>A	14.37:g.35008795C>T	ENSP00000250454:p.Glu14Lys						p.E14K	NM_018453	NP_060923	Q56P03	EAPP_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)	1	149	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		14					Q9BVF4|Q9NWV5|Q9NZ86	Missense_Mutation	SNP	ENST00000250454.3	37	c.40G>A	CCDS41941.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.712225	0.68730	.	.	ENSG00000129518	ENST00000250454	T	0.51071	0.72	5.18	5.18	0.71444	.	0.046113	0.85682	D	0.000000	T	0.50667	0.1629	M	0.78049	2.395	0.80722	D	1	P	0.42871	0.792	B	0.35182	0.197	T	0.62267	-0.6890	10	0.62326	D	0.03	-20.6734	18.6549	0.91448	0.0:1.0:0.0:0.0	.	14	Q56P03	EAPP_HUMAN	K	14	ENSP00000250454:E14K	ENSP00000250454:E14K	E	-	1	0	EAPP	34078546	1.000000	0.71417	0.993000	0.49108	0.579000	0.36224	6.361000	0.73070	2.591000	0.87537	0.655000	0.94253	GAA		0.627	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1		NM_018453		6	26	0	0	0	0.00308	0	6	26		
YLPM1	56252	broad.mit.edu	37	14	75230697	75230697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:75230697C>T	ENST00000552421.1	+	1	629	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	YLPM1_ENST00000325680.7_Nonsense_Mutation_p.Q169*|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.Q169*			P49750	YLPM1_HUMAN	YLP motif containing 1	169	Pro-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCCCCCACCTCAGCCGCCACC	0.622																																						uc001xqj.3		NaN																	0				ovary(2)|pancreas(1)	3						c.(505-507)CAG>TAG		YLP motif containing 1							44.0	50.0	48.0					14																	75230697		2015	4159	6174	SO:0001587	stop_gained	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75230697C>T	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.505C>T	14.37:g.75230697C>T	ENSP00000447921:p.Gln169*						p.Q169*	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	1	629	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					P49752|Q96I64|Q9P1V7	Nonsense_Mutation	SNP	ENST00000552421.1	37	c.505C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.291057	0.95546	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571	.	.	.	4.34	4.34	0.51931	.	0.472921	0.17639	N	0.167089	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-1.3003	11.7887	0.52057	0.0:0.8219:0.1781:0.0	.	.	.	.	X	169	.	ENSP00000238571:Q169X	Q	+	1	0	YLPM1	74300450	0.949000	0.32298	0.998000	0.56505	0.799000	0.45148	1.611000	0.36879	2.258000	0.74832	0.650000	0.86243	CAG		0.622	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1		NM_019589		9	17	0	0	0	0.004482	0	9	17		
POMT2	29954	broad.mit.edu	37	14	77772681	77772681	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:77772681C>G	ENST00000261534.4	-	3	639	c.437G>C	c.(436-438)gGa>gCa	p.G146A	POMT2_ENST00000556880.1_5'UTR	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	146						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		AAGCCTTACTCCTCTCATTCC	0.483																																						uc001xti.2		NaN																	0				ovary(1)	1						c.(436-438)GGA>GCA		protein-O-mannosyltransferase 2							99.0	89.0	93.0					14																	77772681		2203	4300	6503	SO:0001630	splice_region_variant	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77772681C>G	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.438+1G>C	14.37:g.77772681C>G						POMT2_uc010asr.2_Missense_Mutation_p.G35A	p.G146A	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	3	638	-			146			Helical; (Potential).		Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	ENST00000261534.4	37	c.437G>C	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	C	9.603	1.129145	0.21041	.	.	ENSG00000009830	ENST00000261534;ENST00000554948	D;D	0.83992	-1.79;-1.79	5.97	5.06	0.68205	Glycosyl transferase, family 39 (1);	0.120602	0.56097	N	0.000032	T	0.64864	0.2637	N	0.02865	-0.47	0.58432	D	0.999993	B	0.17852	0.024	B	0.19946	0.027	T	0.60786	-0.7194	10	0.11485	T	0.65	-1.057	16.9809	0.86327	0.0:0.8724:0.1276:0.0	.	146	Q9UKY4	POMT2_HUMAN	A	146;55	ENSP00000261534:G146A;ENSP00000452060:G55A	ENSP00000261534:G146A	G	-	2	0	POMT2	76842434	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.986000	0.49370	1.470000	0.48102	0.655000	0.94253	GGA		0.483	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1		NM_013382	Missense_Mutation	12	35	0	0	0	0.013537	0	12	35		
TSHR	7253	broad.mit.edu	37	14	81609785	81609785	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:81609785C>G	ENST00000541158.2	+	11	1705	c.1383C>G	c.(1381-1383)ttC>ttG	p.F461L	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.F461L			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	461					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TTGCGGATTTCTGCATGGGGA	0.542			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															uc001xvd.1		NaN	yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 	E		thyroid  adenoma	toxic thyroid adenoma		0				thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299						c.(1381-1383)TTC>TTG		thyroid stimulating hormone receptor isoform 1	Thyrotropin Alfa(DB00024)						718.0	565.0	617.0					14																	81609785		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81609785C>G	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1383C>G	14.37:g.81609785C>G	ENSP00000441235:p.Phe461Leu						p.F461L	NM_000369	NP_000360	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	10	1539	+			461			Helical; Name=2; (Potential).		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.1383C>G	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	C	1.541	-0.541655	0.04053	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	T;T	0.26660	1.72;1.72	5.74	3.89	0.44902	.	0.094831	0.85682	N	0.000000	T	0.07863	0.0197	N	0.01493	-0.835	0.45035	D	0.998055	B	0.06786	0.001	B	0.11329	0.006	T	0.24225	-1.0166	10	0.02654	T	1	.	10.2794	0.43530	0.0:0.6703:0.2564:0.0733	.	461	F5GYU5	.	L	461;108;461	ENSP00000441235:F461L;ENSP00000298171:F461L	ENSP00000298171:F461L	F	+	3	2	TSHR	80679538	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.793000	0.38764	0.752000	0.32923	-0.264000	0.10439	TTC		0.542	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1		NM_000369		31	86	0	0	0	0.015359	0	31	86		
ZC3H14	79882	broad.mit.edu	37	14	89038435	89038435	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:89038435G>C	ENST00000251038.5	+	5	522	c.297G>C	c.(295-297)aaG>aaC	p.K99N	ZC3H14_ENST00000555755.1_Missense_Mutation_p.K99N|ZC3H14_ENST00000359301.3_Missense_Mutation_p.K65N|ZC3H14_ENST00000393514.5_Missense_Mutation_p.K99N|ZC3H14_ENST00000302216.8_Missense_Mutation_p.K99N|ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000556945.1_Missense_Mutation_p.K99N|ZC3H14_ENST00000336693.4_Missense_Mutation_p.K65N	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	99						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CTTCAAACAAGAGCAATTTCA	0.413																																						uc001xww.2		NaN																	0				ovary(2)|skin(1)	3						c.(295-297)AAG>AAC		zinc finger CCCH-type containing 14 isoform 1							94.0	92.0	93.0					14																	89038435		2203	4300	6503	SO:0001583	missense	79882					cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89038435G>C	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.297G>C	14.37:g.89038435G>C	ENSP00000251038:p.Lys99Asn					ZC3H14_uc010twd.1_Missense_Mutation_p.K99N|ZC3H14_uc010twe.1_Missense_Mutation_p.K99N|ZC3H14_uc001xwx.2_Missense_Mutation_p.K99N|ZC3H14_uc010twf.1_Intron|ZC3H14_uc001xwy.2_Missense_Mutation_p.K65N|ZC3H14_uc010twg.1_5'Flank	p.K99N	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN			5	522	+			99					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	c.297G>C	CCDS32133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.098042|4.098042	0.76870|0.76870	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000554602;ENST00000556945;ENST00000556158;ENST00000555799;ENST00000555755;ENST00000393514;ENST00000336693;ENST00000557693;ENST00000555120|ENST00000556000	.|.	.|.	.|.	5.88|5.88	4.05|4.05	0.47172|0.47172	.|.	0.099686|.	0.64402|.	D|.	0.000002|.	T|T	0.50650|0.50650	0.1628|0.1628	M|M	0.66939|0.66939	2.045|2.045	0.30607|0.30607	N|N	0.759878|0.759878	P;B;P;B|.	0.51351|.	0.585;0.005;0.944;0.005|.	B;B;P;B|.	0.53146|.	0.399;0.011;0.719;0.011|.	T|T	0.55095|0.55095	-0.8194|-0.8194	9|5	0.44086|.	T|.	0.13|.	-14.7221|-14.7221	5.7109|5.7109	0.17935|0.17935	0.3542:0.0:0.6458:0.0|0.3542:0.0:0.6458:0.0	.|.	99;99;99;99|.	G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7|.	.;.;.;ZC3HE_HUMAN|.	N|T	99;99;99;65;99;65;99;86;65;99;99;65;65;65|15	.|.	ENSP00000251038:K99N|.	K|R	+|+	3|2	2|0	ZC3H14|ZC3H14	88108188|88108188	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.900000|0.900000	0.52787|0.52787	3.437000|3.437000	0.52863|0.52863	1.488000|1.488000	0.48433|0.48433	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.413	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1		NM_024824		18	77	0	0	0	0.008871	0	18	77		
SERPINA10	51156	broad.mit.edu	37	14	94754876	94754876	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:94754876C>G	ENST00000393096.1	-	3	1204	c.739G>C	c.(739-741)Gac>Cac	p.D247H	SERPINA10_ENST00000554173.1_Missense_Mutation_p.D247H|SERPINA10_ENST00000554723.1_Missense_Mutation_p.D287H|SERPINA10_ENST00000261994.4_Missense_Mutation_p.D247H	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	247					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AAGACAGGGTCAAATGGGGTC	0.453																																						uc001yct.2		NaN																	0				ovary(2)|skin(1)	3						c.(739-741)GAC>CAC		serine (or cysteine) proteinase inhibitor, clade							76.0	75.0	75.0					14																	94754876		2203	4300	6503	SO:0001583	missense	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94754876C>G	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.739G>C	14.37:g.94754876C>G	ENSP00000376809:p.Asp247His					SERPINA10_uc001ycu.3_Missense_Mutation_p.D247H	p.D247H	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	3	1205	-		all_cancers(154;0.105)	247					A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	c.739G>C	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554299	0.45487	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49	5.37	4.48	0.54585	Serpin domain (3);	0.187010	0.37053	N	0.002279	D	0.93769	0.8008	M	0.91354	3.2	0.30932	N	0.726827	D	0.76494	0.999	D	0.67548	0.952	D	0.91468	0.5194	10	0.87932	D	0	.	3.9587	0.09401	0.1729:0.5758:0.0:0.2513	.	247	Q9UK55	ZPI_HUMAN	H	287;247;247;247	ENSP00000450896:D287H;ENSP00000376809:D247H;ENSP00000261994:D247H;ENSP00000450971:D247H	ENSP00000261994:D247H	D	-	1	0	SERPINA10	93824629	0.981000	0.34729	0.104000	0.21259	0.622000	0.37654	1.429000	0.34903	1.257000	0.44085	0.313000	0.20887	GAC		0.453	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1		NM_016186		25	83	0	0	0	0.007291	0	25	83		
SETD3	84193	broad.mit.edu	37	14	99871626	99871626	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr14:99871626C>T	ENST00000331768.5	-	10	1166	c.1007G>A	c.(1006-1008)aGa>aAa	p.R336K		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	336					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TATTTTCACTCTGTCGTGTGA	0.438																																						uc001ygc.2		NaN																	0					0						c.(1006-1008)AGA>AAA		SET domain containing 3 isoform a							130.0	122.0	125.0					14																	99871626		2203	4300	6503	SO:0001583	missense	84193				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	g.chr14:99871626C>T	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.1007G>A	14.37:g.99871626C>T	ENSP00000327436:p.Arg336Lys						p.R336K	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN			10	1177	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	336					A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	c.1007G>A	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.415263	0.42817	.	.	ENSG00000183576	ENST00000331768	T	0.11604	2.76	5.63	4.72	0.59763	Rubisco LS methyltransferase, substrate-binding domain (2);	0.053763	0.85682	D	0.000000	T	0.05410	0.0143	N	0.10664	0.02	0.80722	D	1	P	0.36959	0.575	B	0.31337	0.128	T	0.42949	-0.9421	10	0.10902	T	0.67	-1.3132	16.1078	0.81236	0.1347:0.8653:0.0:0.0	.	336	Q86TU7	SETD3_HUMAN	K	336	ENSP00000327436:R336K	ENSP00000327436:R336K	R	-	2	0	SETD3	98941379	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.991000	0.70602	1.477000	0.48234	0.655000	0.94253	AGA		0.438	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3		NM_032233		29	62	0	0	0	0.00632	0	29	62		
ARHGAP11B	89839	broad.mit.edu	37	15	30926523	30926523	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:30926523G>A	ENST00000428041.2	+	4	593	c.448G>A	c.(448-450)Gag>Aag	p.E150K		NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	150	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		GTTAGGCACAGAGGAAAAGAA	0.413																																						uc001zet.1		NaN																	0					0						c.(448-450)GAG>AAG		Rho GTPase activating protein 11B							119.0	116.0	117.0					15																	30926523		2201	4300	6501	SO:0001583	missense	89839				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:30926523G>A	BC105788	CCDS32185.1	15q13.2	2011-07-13				ENSG00000187951		"""Rho GTPase activating proteins"""	15782	protein-coding gene	gene with protein product	"""GAP (1-8)"""		"""family with sequence similarity 7, member B1"""	FAM7B1		11829490	Standard	NM_001039841		Approved	B'-T	uc001zet.1	Q3KRB8		ENST00000428041.2:c.448G>A	15.37:g.30926523G>A	ENSP00000392760:p.Glu150Lys					ARHGAP11B_uc010azv.1_RNA|ARHGAP11B_uc001zeu.2_RNA	p.E150K	NM_001039841	NP_001034930	Q3KRB8	RHGBB_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	4	593	+		all_lung(180;2.71e-09)|Breast(32;0.00116)	150			Rho-GAP.			Missense_Mutation	SNP	ENST00000428041.2	37	c.448G>A	CCDS32185.1	.	.	.	.	.	.	.	.	.	.	.	10.27	1.303163	0.23736	.	.	ENSG00000187951	ENST00000428041	T	0.19806	2.12	1.53	1.53	0.23141	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.355583	0.16069	U	0.231113	T	0.13756	0.0333	N	0.25060	0.705	0.30129	N	0.805009	P	0.51147	0.942	P	0.46718	0.525	T	0.03945	-1.0990	10	0.07813	T	0.8	.	9.0387	0.36305	0.0:0.0:1.0:0.0	.	150	Q3KRB8	RHGBB_HUMAN	K	150	ENSP00000392760:E150K	ENSP00000392760:E150K	E	+	1	0	ARHGAP11B	28713815	1.000000	0.71417	0.796000	0.32109	0.431000	0.31685	5.101000	0.64566	1.150000	0.42419	0.162000	0.16502	GAG		0.413	ARHGAP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430729.1		NM_001039841		15	57	0	0	0	0.010504	0	15	57		
TRPM1	4308	broad.mit.edu	37	15	31318357	31318357	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:31318357C>A	ENST00000256552.6	-	27	3761	c.3614G>T	c.(3613-3615)cGg>cTg	p.R1205L	TRPM1_ENST00000397795.2_Missense_Mutation_p.R1183L|TRPM1_ENST00000542188.1_Missense_Mutation_p.R1222L|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGAAGTGACCCGGATGCGCTC	0.622																																						uc001zfm.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(3547-3549)CGG>CTG		transient receptor potential cation channel,							54.0	58.0	57.0					15																	31318357		2087	4223	6310	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31318357C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3614G>T	15.37:g.31318357C>A	ENSP00000256552:p.Arg1205Leu					TRPM1_uc010azy.2_Missense_Mutation_p.R1090L|TRPM1_uc001zfl.2_RNA	p.R1183L	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	26	3676	-		all_lung(180;1.92e-11)	1183			Potential.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.3548G>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265386	0.80358	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.57752	0.38;0.38;0.38	5.33	5.33	0.75918	.	0.052770	0.64402	D	0.000001	T	0.59197	0.2176	M	0.64997	1.995	0.43698	D	0.99615	P;P	0.42908	0.768;0.793	B;B	0.43990	0.438;0.244	T	0.64685	-0.6349	10	0.87932	D	0	-25.4253	19.3967	0.94610	0.0:1.0:0.0:0.0	.	1177;1183	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	L	1183;1222;1205;1183	ENSP00000380897:R1183L;ENSP00000437849:R1222L;ENSP00000256552:R1205L	ENSP00000256552:R1205L	R	-	2	0	TRPM1	29105649	1.000000	0.71417	0.996000	0.52242	0.704000	0.40688	4.515000	0.60489	2.651000	0.90000	0.467000	0.42956	CGG		0.622	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2		NM_002420		14	38	1	0	2.31682e-05	0.003163	2.40576e-05	14	38		
CAPN3	825	broad.mit.edu	37	15	42703970	42703970	+	Nonstop_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:42703970G>C	ENST00000397163.3	+	24	2684	c.2465G>C	c.(2464-2466)tGa>tCa	p.*822S	CAPN3_ENST00000318023.7_Nonstop_Mutation_p.*816S|CAPN3_ENST00000561817.1_Intron|CAPN3_ENST00000397204.4_Nonstop_Mutation_p.*157S|CAPN3_ENST00000337571.4_Nonstop_Mutation_p.*157S|CAPN3_ENST00000569136.1_Nonstop_Mutation_p.*157S|CAPN3_ENST00000357568.3_Nonstop_Mutation_p.*816S|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000397200.4_Nonstop_Mutation_p.*310S|CAPN3_ENST00000356316.3_Nonstop_Mutation_p.*729S|CAPN3_ENST00000349748.3_Nonstop_Mutation_p.*730S	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	0					apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATGTATGCCTGAACCAGGCTG	0.517																																						uc001zpn.1		NaN																	0				central_nervous_system(1)	1						c.(2464-2466)TGA>TCA		calpain 3 isoform a							77.0	61.0	66.0					15																	42703970		2203	4299	6502	SO:0001578	stop_lost	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42703970G>C	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.2465G>C	15.37:g.42703970G>C	ENSP00000380349:p.*822Serext*62					CAPN3_uc001zpk.1_Nonstop_Mutation_p.*589S|CAPN3_uc001zpl.1_Nonstop_Mutation_p.*729S|CAPN3_uc010udf.1_Nonstop_Mutation_p.*735S|CAPN3_uc010udg.1_Nonstop_Mutation_p.*687S|CAPN3_uc001zpo.1_Nonstop_Mutation_p.*816S|CAPN3_uc001zpp.1_Nonstop_Mutation_p.*730S|CAPN3_uc001zpq.1_Nonstop_Mutation_p.*310S|CAPN3_uc010bcv.1_Intron|CAPN3_uc001zpr.1_Nonstop_Mutation_p.*157S|CAPN3_uc001zps.1_Nonstop_Mutation_p.*157S|CAPN3_uc001zpt.1_Nonstop_Mutation_p.*157S	p.*822S	NM_000070	NP_000061	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	24	2771	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	822					A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Nonstop_Mutation	SNP	ENST00000397163.3	37	c.2465G>C	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675738	0.88445	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200;ENST00000337571;ENST00000397204	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.25956	N	0.982686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4004	0.44227	0.1482:0.0:0.8518:0.0	.	.	.	.	S	729;310;822;816;730;816;310;157;157	.	.	X	+	2	2	CAPN3	40491262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.698000	0.47068	2.831000	0.97527	0.650000	0.86243	TGA		0.517	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1				6	49	0	0	0	0.00308	0	6	49		
IGDCC4	57722	broad.mit.edu	37	15	65681731	65681731	+	Silent	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:65681731G>T	ENST00000352385.2	-	14	2636	c.2427C>A	c.(2425-2427)ctC>ctA	p.L809L		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	809	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						AGCCGCCAATGAGGATGTCTT	0.562																																						uc002aou.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2425-2427)CTC>CTA		immunoglobulin superfamily, DCC subclass, member							129.0	99.0	109.0					15																	65681731		2201	4299	6500	SO:0001819	synonymous_variant	57722					integral to membrane|plasma membrane		g.chr15:65681731G>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2427C>A	15.37:g.65681731G>T						IGDCC4_uc002aot.1_Silent_p.L397L	p.L809L	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			14	2637	-			809			Fibronectin type-III 4.|Extracellular (Potential).		Q9HCE4	Silent	SNP	ENST00000352385.2	37	c.2427C>A	CCDS10206.1																																																																																				0.562	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2		NM_020962		7	51	1	0	0.000274275	0.004482	0.000282634	7	51		
SMAD3	4088	broad.mit.edu	37	15	67457635	67457635	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:67457635G>A	ENST00000327367.4	+	3	755	c.445G>A	c.(445-447)Gag>Aag	p.E149K	SMAD3_ENST00000439724.3_Missense_Mutation_p.E105K|SMAD3_ENST00000540846.2_Missense_Mutation_p.E44K|SMAD3_ENST00000537194.2_5'Flank	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	149	Linker.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GATCCCGGCCGAGTTCCCCCC	0.602																																						uc002aqj.2		NaN																	0				large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(445-447)GAG>AAG		mothers against decapentaplegic homolog 3							123.0	120.0	121.0					15																	67457635		2201	4299	6500	SO:0001583	missense	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67457635G>A	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.445G>A	15.37:g.67457635G>A	ENSP00000332973:p.Glu149Lys					SMAD3_uc010ujr.1_Missense_Mutation_p.E44K|SMAD3_uc010ujs.1_Missense_Mutation_p.E105K|SMAD3_uc010ujt.1_5'Flank	p.E149K	NM_005902	NP_005893	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	3	743	+			149			Linker.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	ENST00000327367.4	37	c.445G>A	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206858	0.79127	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724	D;D;D	0.97114	-3.71;-4.25;-3.68	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.95395	0.8505	M	0.68952	2.095	0.80722	D	1	P;B	0.39601	0.68;0.035	B;B	0.37480	0.251;0.018	D	0.95000	0.8142	10	0.11485	T	0.65	.	17.666	0.88203	0.0:0.0:1.0:0.0	.	105;149	B7Z4Z5;P84022	.;SMAD3_HUMAN	K	149;149;44;105	ENSP00000332973:E149K;ENSP00000437757:E44K;ENSP00000401133:E105K	ENSP00000332973:E149K	E	+	1	0	SMAD3	65244689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.686000	0.98664	2.171000	0.68590	0.561000	0.74099	GAG		0.602	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2		NM_005902		31	153	0	0	0	0.008361	0	31	153		
SMAD3	4088	broad.mit.edu	37	15	67473650	67473650	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:67473650G>A	ENST00000327367.4	+	6	1040	c.730G>A	c.(730-732)Gtc>Atc	p.V244I	SMAD3_ENST00000439724.3_Missense_Mutation_p.V200I|SMAD3_ENST00000540846.2_Missense_Mutation_p.V139I|SMAD3_ENST00000537194.2_Missense_Mutation_p.V49I	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	244	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GAACCAGCGCGTCGGGGAGAC	0.607																																						uc002aqj.2		NaN																	0				large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(730-732)GTC>ATC		mothers against decapentaplegic homolog 3							77.0	62.0	67.0					15																	67473650		2201	4299	6500	SO:0001583	missense	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67473650G>A	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.730G>A	15.37:g.67473650G>A	ENSP00000332973:p.Val244Ile					SMAD3_uc010ujr.1_Missense_Mutation_p.V139I|SMAD3_uc010ujs.1_Missense_Mutation_p.V200I|SMAD3_uc010ujt.1_Missense_Mutation_p.V49I	p.V244I	NM_005902	NP_005893	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	6	1028	+			244			MH2.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	ENST00000327367.4	37	c.730G>A	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	G	33	5.271273	0.95429	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	D;D;D;D	0.98192	-4.78;-4.78;-4.78;-4.78	5.1	5.1	0.69264	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98419	0.9474	L	0.53617	1.68	0.80722	D	1	B;B	0.33120	0.398;0.224	P;P	0.52627	0.704;0.459	D	0.98994	1.0809	10	0.56958	D	0.05	.	18.8753	0.92332	0.0:0.0:1.0:0.0	.	200;244	B7Z4Z5;P84022	.;SMAD3_HUMAN	I	244;244;139;200;49	ENSP00000332973:V244I;ENSP00000437757:V139I;ENSP00000401133:V200I;ENSP00000445348:V49I	ENSP00000332973:V244I	V	+	1	0	SMAD3	65260704	1.000000	0.71417	0.786000	0.31890	0.958000	0.62258	9.682000	0.98655	2.515000	0.84797	0.555000	0.69702	GTC		0.607	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2		NM_005902		8	52	0	0	0	0.006214	0	8	52		
LMAN1L	79748	broad.mit.edu	37	15	75112416	75112416	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:75112416C>T	ENST00000309664.5	+	7	889	c.750C>T	c.(748-750)ttC>ttT	p.F250F	LMAN1L_ENST00000379709.3_Intron|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	250	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTGACCTTCAGCCTGAGTG	0.612																																						uc002ayt.1		NaN																	0					0						c.(748-750)TTC>TTT		lectin, mannose-binding, 1 like precursor							214.0	151.0	172.0					15																	75112416		2197	4296	6493	SO:0001819	synonymous_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75112416C>T	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.750C>T	15.37:g.75112416C>T						LMAN1L_uc010bkd.2_3'UTR|LMAN1L_uc010ulo.1_3'UTR|LMAN1L_uc010bke.1_Intron	p.F250F	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN			7	752	+			250			Lumenal (Potential).|L-type lectin-like.		Q6UWN2	Silent	SNP	ENST00000309664.5	37	c.750C>T	CCDS10270.1																																																																																				0.612	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4				17	100	0	0	0	0.012319	0	17	100		
TBC1D2B	23102	broad.mit.edu	37	15	78346479	78346479	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr15:78346479C>T	ENST00000300584.3	-	2	410	c.411G>A	c.(409-411)aaG>aaA	p.K137K	TBC1D2B_ENST00000409931.3_Silent_p.K137K	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	137	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						ATTCCCATCTCTTCTGCTGAA	0.468																																						uc002bcy.3		NaN																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(409-411)AAG>AAA		TBC1 domain family, member 2B isoform a							110.0	100.0	103.0					15																	78346479		2196	4293	6489	SO:0001819	synonymous_variant	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78346479C>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.411G>A	15.37:g.78346479C>T						TBC1D2B_uc010bla.2_Silent_p.K137K	p.K137K	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN			2	411	-			137			PH.		A7MD42|Q8N1F9|Q9NXM0	Silent	SNP	ENST00000300584.3	37	c.411G>A	CCDS45314.1	.	.	.	.	.	.	.	.	.	.	C	9.525	1.109236	0.20714	.	.	ENSG00000167202	ENST00000418039	.	.	.	5.64	2.54	0.30619	.	.	.	.	.	T	0.55226	0.1907	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47381	-0.9122	4	.	.	.	.	6.977	0.24681	0.0:0.5724:0.0:0.4276	.	.	.	.	K	19	.	.	R	-	2	0	TBC1D2B	76133534	0.998000	0.40836	0.992000	0.48379	0.846000	0.48090	0.482000	0.22276	0.587000	0.29643	0.655000	0.94253	AGA		0.468	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3		NM_015079		12	45	0	0	0	0.001855	0	12	45		
WDR90	197335	broad.mit.edu	37	16	716290	716290	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:716290C>T	ENST00000293879.4	+	37	4680	c.4680C>T	c.(4678-4680)ttC>ttT	p.F1560F	RHOT2_ENST00000315082.4_5'Flank|WDR90_ENST00000547944.1_Silent_p.F159F|WDR90_ENST00000549091.1_Silent_p.F1562F|WDR90_ENST00000315764.4_Silent_p.F159F|WDR90_ENST00000547543.1_3'UTR			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1560										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGACAACCTTCCGTGTGCTGA	0.627																																						uc002cii.1		NaN																	0				ovary(1)	1						c.(4678-4680)TTC>TTT		WD repeat domain 90							46.0	55.0	52.0					16																	716290		2026	4175	6201	SO:0001819	synonymous_variant	197335							g.chr16:716290C>T	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4680C>T	16.37:g.716290C>T						WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Silent_p.F175F|WDR90_uc010uul.1_Silent_p.F159F|WDR90_uc002cio.1_Silent_p.F159F|WDR90_uc010bqx.1_Silent_p.F159F|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank	p.F1560F	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			37	4734	+		Hepatocellular(780;0.0218)	1560			WD 19.		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	c.4680C>T	CCDS42092.1																																																																																				0.627	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1		NM_145294		13	44	0	0	0	0.004007	0	13	44		
CCNF	899	broad.mit.edu	37	16	2495468	2495468	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:2495468G>A	ENST00000397066.4	+	10	1027	c.939G>A	c.(937-939)ctG>ctA	p.L313L		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	313	Cyclin N-terminal.				mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GGTACATTCTGATCGACTGGC	0.592																																						uc002cqd.1		NaN																	0				central_nervous_system(1)|kidney(1)	2						c.(937-939)CTG>CTA		cyclin F							108.0	84.0	92.0					16																	2495468		2198	4300	6498	SO:0001819	synonymous_variant	899				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	g.chr16:2495468G>A	Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.939G>A	16.37:g.2495468G>A						CCNF_uc002cqe.1_Silent_p.L5L	p.L313L	NM_001761	NP_001752	P41002	CCNF_HUMAN			10	1027	+		Ovarian(90;0.17)	313			Cyclin N-terminal.		B2R8H3|Q96EG9	Silent	SNP	ENST00000397066.4	37	c.939G>A	CCDS10467.1																																																																																				0.592	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1		NM_001761		17	92	0	0	0	0.016522	0	17	92		
PRSS21	10942	broad.mit.edu	37	16	2871063	2871063	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:2871063G>A	ENST00000005995.3	+	5	700	c.658G>A	c.(658-660)Gac>Aac	p.D220N	PRSS21_ENST00000455114.1_Missense_Mutation_p.D218N|PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000450020.3_Missense_Mutation_p.D220N			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	220	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						CATCTTTGGAGACATGGTTTG	0.542																																						uc002crt.2		NaN																	0				ovary(1)|skin(1)	2						c.(658-660)GAC>AAC		testisin isoform 1							333.0	302.0	312.0					16																	2871063		2198	4300	6498	SO:0001583	missense	10942				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity	g.chr16:2871063G>A	AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"""Serine peptidases / Serine peptidases"""	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.658G>A	16.37:g.2871063G>A	ENSP00000005995:p.Asp220Asn					PRSS21_uc002crs.2_Missense_Mutation_p.D218N|PRSS21_uc002crr.2_Missense_Mutation_p.D220N	p.D220N	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN			5	764	+			220			Peptidase S1.		Q9NS34|Q9P2V6	Missense_Mutation	SNP	ENST00000005995.3	37	c.658G>A	CCDS10478.1	.	.	.	.	.	.	.	.	.	.	g	16.45	3.127004	0.56721	.	.	ENSG00000007038	ENST00000455114;ENST00000450020;ENST00000005995	T;T;T	0.81330	-1.42;-1.48;-1.42	4.26	0.955	0.19602	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.80788	0.4690	L	0.35249	1.045	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.986;0.989;0.989	T	0.66685	-0.5861	9	0.46703	T	0.11	.	5.4384	0.16494	0.1885:0.0:0.6516:0.1599	.	220;218;220	Q9Y6M0;Q9Y6M0-2;Q9Y6M0-3	TEST_HUMAN;.;.	N	218;220;220	ENSP00000400632:D218N;ENSP00000407741:D220N;ENSP00000005995:D220N	ENSP00000005995:D220N	D	+	1	0	PRSS21	2811064	0.000000	0.05858	0.001000	0.08648	0.280000	0.26924	0.620000	0.24403	0.392000	0.25172	0.567000	0.79289	GAC		0.542	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1		NM_006799		54	206	0	0	0	0.01441	0	54	206		
UBN1	29855	broad.mit.edu	37	16	4924307	4924307	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:4924307G>C	ENST00000396658.4	+	14	2599	c.1896G>C	c.(1894-1896)ctG>ctC	p.L632L	UBN1_ENST00000262376.6_Silent_p.L632L|UBN1_ENST00000590769.1_Silent_p.L632L|UBN1_ENST00000545171.1_Silent_p.L632L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	632					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CAGGAGGCCTGAGTATTGGGG	0.542																																						uc002cyb.2		NaN																	0				skin(2)	2						c.(1894-1896)CTG>CTC		ubinuclein 1							96.0	103.0	101.0					16																	4924307		2197	4300	6497	SO:0001819	synonymous_variant	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4924307G>C	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.1896G>C	16.37:g.4924307G>C						UBN1_uc010uxw.1_Silent_p.L632L|UBN1_uc002cyc.2_Silent_p.L632L	p.L632L	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN			15	2235	+			632					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	c.1896G>C	CCDS10525.1																																																																																				0.542	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1		NM_016936		21	98	0	0	0	0.00333	0	21	98		
UBN1	29855	broad.mit.edu	37	16	4924679	4924679	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:4924679G>C	ENST00000396658.4	+	14	2971	c.2268G>C	c.(2266-2268)gaG>gaC	p.E756D	UBN1_ENST00000262376.6_Missense_Mutation_p.E756D|UBN1_ENST00000590769.1_Missense_Mutation_p.E756D|UBN1_ENST00000545171.1_Missense_Mutation_p.E756D	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	756					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AAAAACCAGAGAGTTCTGGCT	0.552																																						uc002cyb.2		NaN																	0				skin(2)	2						c.(2266-2268)GAG>GAC		ubinuclein 1							68.0	76.0	73.0					16																	4924679		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4924679G>C	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2268G>C	16.37:g.4924679G>C	ENSP00000379894:p.Glu756Asp					UBN1_uc010uxw.1_Missense_Mutation_p.E756D|UBN1_uc002cyc.2_Missense_Mutation_p.E756D	p.E756D	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN			15	2607	+			756					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.2268G>C	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199885	0.38905	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.24151	1.87;1.87;1.87	5.14	4.13	0.48395	.	0.296909	0.29964	N	0.010758	T	0.17152	0.0412	N	0.19112	0.55	0.31077	N	0.712382	B;B	0.21071	0.015;0.051	B;B	0.24006	0.011;0.05	T	0.05683	-1.0870	10	0.20046	T	0.44	-29.4284	14.4641	0.67472	0.0:0.0:0.8438:0.1562	.	756;756	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	D	756	ENSP00000262376:E756D;ENSP00000442379:E756D;ENSP00000379894:E756D	ENSP00000262376:E756D	E	+	3	2	UBN1	4864680	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.037000	0.41174	2.689000	0.91719	0.462000	0.41574	GAG		0.552	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1		NM_016936		17	58	0	0	0	0.007413	0	17	58		
UBN1	29855	broad.mit.edu	37	16	4927465	4927465	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:4927465G>C	ENST00000396658.4	+	16	4048	c.3345G>C	c.(3343-3345)caG>caC	p.Q1115H	UBN1_ENST00000262376.6_Missense_Mutation_p.Q1115H|UBN1_ENST00000590769.1_Intron|UBN1_ENST00000545171.1_Intron	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1115					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATATCCCGCAGAGTCTGCCAG	0.642																																						uc002cyb.2		NaN																	0				skin(2)	2						c.(3343-3345)CAG>CAC		ubinuclein 1							112.0	118.0	116.0					16																	4927465		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4927465G>C	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.3345G>C	16.37:g.4927465G>C	ENSP00000379894:p.Gln1115His					UBN1_uc010uxw.1_Intron|UBN1_uc002cyc.2_Missense_Mutation_p.Q1115H	p.Q1115H	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN			17	3684	+			1115					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.3345G>C	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357449	0.61293	.	.	ENSG00000118900	ENST00000262376;ENST00000396658	T;T	0.39787	1.06;1.06	5.14	3.19	0.36642	.	0.108142	0.42420	D	0.000708	T	0.55784	0.1942	L	0.59436	1.845	0.80722	D	1	D	0.65815	0.995	D	0.77557	0.99	T	0.54938	-0.8218	10	0.66056	D	0.02	-17.5812	8.4639	0.32944	0.3077:0.0:0.6923:0.0	.	1115	Q9NPG3	UBN1_HUMAN	H	1115	ENSP00000262376:Q1115H;ENSP00000379894:Q1115H	ENSP00000262376:Q1115H	Q	+	3	2	UBN1	4867466	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.093000	0.30939	0.750000	0.32877	0.563000	0.77884	CAG		0.642	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1		NM_016936		27	140	0	0	0	0.00632	0	27	140		
PPL	5493	broad.mit.edu	37	16	4933975	4933975	+	Silent	SNP	G	G	A	rs372524698		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:4933975G>A	ENST00000345988.2	-	22	4770	c.4681C>T	c.(4681-4683)Ctg>Ttg	p.L1561L	PPL_ENST00000590782.2_Silent_p.L1559L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1561					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCTTCCCTCAGAAAGTCTAGT	0.552																																						uc002cyd.1		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4681-4683)CTG>TTG		periplakin		G		0,4394		0,0,2197	105.0	106.0	106.0		4681	3.5	1.0	16		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PPL	NM_002705.4		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		1561/1757	4933975	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4933975G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4681C>T	16.37:g.4933975G>A							p.L1561L	NM_002705	NP_002696	O60437	PEPL_HUMAN			22	4771	-			1561			Potential.		O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.4681C>T	CCDS10526.1																																																																																				0.552	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1		NM_002705		13	65	0	0	0	0.00245	0	13	65		
PPL	5493	broad.mit.edu	37	16	4934725	4934725	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:4934725G>A	ENST00000345988.2	-	22	4020	c.3931C>T	c.(3931-3933)Ctg>Ttg	p.L1311L	PPL_ENST00000590782.2_Silent_p.L1309L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1311					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TTTGCCCTCAGAGACGCCACC	0.557																																						uc002cyd.1		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3931-3933)CTG>TTG		periplakin							162.0	167.0	165.0					16																	4934725		2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934725G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3931C>T	16.37:g.4934725G>A							p.L1311L	NM_002705	NP_002696	O60437	PEPL_HUMAN			22	4021	-			1311			Potential.		O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.3931C>T	CCDS10526.1																																																																																				0.557	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1		NM_002705		24	92	0	0	0	0.00632	0	24	92		
PPL	5493	broad.mit.edu	37	16	4934737	4934737	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:4934737C>A	ENST00000345988.2	-	22	4008	c.3919G>T	c.(3919-3921)Gag>Tag	p.E1307*	PPL_ENST00000590782.2_Nonsense_Mutation_p.E1305*	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1307					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GACGCCACCTCCTCCTTGGTT	0.537																																						uc002cyd.1		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3919-3921)GAG>TAG		periplakin							163.0	165.0	164.0					16																	4934737		2197	4300	6497	SO:0001587	stop_gained	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934737C>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3919G>T	16.37:g.4934737C>A	ENSP00000340510:p.Glu1307*						p.E1307*	NM_002705	NP_002696	O60437	PEPL_HUMAN			22	4009	-			1307			Potential.		O60314|O60454|Q14C98	Nonsense_Mutation	SNP	ENST00000345988.2	37	c.3919G>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	40	8.453118	0.98817	.	.	ENSG00000118898	ENST00000345988	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.2881	0.94087	0.0:1.0:0.0:0.0	.	.	.	.	X	1307	.	ENSP00000340510:E1307X	E	-	1	0	PPL	4874738	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	5.969000	0.70422	2.567000	0.86603	0.655000	0.94253	GAG		0.537	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1		NM_002705		18	86	1	0	6.94344e-10	0.006122	7.35108e-10	18	86		
C16orf72	29035	broad.mit.edu	37	16	9210534	9210534	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:9210534G>A	ENST00000327827.7	+	4	990	c.593G>A	c.(592-594)gGt>gAt	p.G198D		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	198										endometrium(4)|large_intestine(2)|lung(2)	8						GGTCTTAGTGGTGCAATGGCT	0.428																																						uc002czm.2		NaN																	0				large_intestine(1)	1						c.(592-594)GGT>GAT		hypothetical protein LOC29035							187.0	181.0	183.0					16																	9210534		2197	4300	6497	SO:0001583	missense	29035							g.chr16:9210534G>A	AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.593G>A	16.37:g.9210534G>A	ENSP00000331720:p.Gly198Asp						p.G198D	NM_014117	NP_054836	Q14CZ0	CP072_HUMAN			4	958	+			198						Missense_Mutation	SNP	ENST00000327827.7	37	c.593G>A	CCDS10538.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881394	0.72294	.	.	ENSG00000182831	ENST00000327827	T	0.42900	0.96	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.67970	0.2950	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70806	-0.4772	10	0.72032	D	0.01	-12.6744	19.5309	0.95228	0.0:0.0:1.0:0.0	.	198	Q14CZ0	CP072_HUMAN	D	198	ENSP00000331720:G198D	ENSP00000331720:G198D	G	+	2	0	C16orf72	9118035	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.695000	0.98691	2.697000	0.92050	0.585000	0.79938	GGT		0.428	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440760.2		NM_014117		404	92	0	0	0	0.01441	0	404	92		
MYH11	4629	broad.mit.edu	37	16	15809038	15809038	+	Missense_Mutation	SNP	C	C	T	rs148743922		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:15809038C>T	ENST00000300036.5	-	39	5705	c.5596G>A	c.(5596-5598)Gag>Aag	p.E1866K	MYH11_ENST00000452625.2_Missense_Mutation_p.E1873K|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.E1873K|MYH11_ENST00000576790.2_Missense_Mutation_p.E1866K|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1866					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TTGTACTGCTCGGCCATCTTG	0.622			T	CBFB	AML								C|||	1	0.000199681	0.0	0.0	5008	,	,		12966	0.001		0.0	False		,,,				2504	0.0					uc002ddy.2		NaN		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(5596-5598)GAG>AAG		smooth muscle myosin heavy chain 11 isoform							88.0	83.0	85.0					16																	15809038		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15809038C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5596G>A	16.37:g.15809038C>T	ENSP00000300036:p.Glu1866Lys					MYH11_uc002ddv.2_Missense_Mutation_p.E1873K|MYH11_uc002ddw.2_Missense_Mutation_p.E1866K|MYH11_uc002ddx.2_Missense_Mutation_p.E1873K|MYH11_uc010bvg.2_Missense_Mutation_p.E1698K|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.E572K	p.E1866K	NM_002474	NP_002465	P35749	MYH11_HUMAN			39	5703	-			1866			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.5596G>A	CCDS10565.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	34	5.307409	0.95629	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	4.75	4.75	0.60458	Myosin tail (1);	0.061224	0.64402	D	0.000004	D	0.83792	0.5331	M	0.82630	2.6	0.80722	D	1	P;P;P;P;P	0.51933	0.949;0.897;0.897;0.897;0.897	P;P;P;P;P	0.54889	0.763;0.625;0.625;0.625;0.625	T	0.82564	-0.0394	10	0.06757	T	0.87	.	16.7383	0.85453	0.0:1.0:0.0:0.0	.	1873;1866;1873;1866;1873	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	K	1866;1866;1873;1873;1873	ENSP00000300036:E1866K;ENSP00000345136:E1866K;ENSP00000379616:E1873K;ENSP00000407821:E1873K	ENSP00000300036:E1866K	E	-	1	0	MYH11	15716539	1.000000	0.71417	0.910000	0.35882	0.983000	0.72400	7.678000	0.84035	2.183000	0.69458	0.455000	0.32223	GAG		0.622	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2		NM_001040113		13	97	0	0	0	0.003163	0	13	97		
ABCC1	4363	broad.mit.edu	37	16	16110412	16110412	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:16110412C>T	ENST00000399410.3	+	5	724	c.549C>T	c.(547-549)ctC>ctT	p.L183L	ABCC1_ENST00000399408.2_Silent_p.L183L|ABCC1_ENST00000346370.5_Silent_p.L183L|ABCC1_ENST00000351154.5_Silent_p.L183L|ABCC1_ENST00000349029.5_Silent_p.L183L|ABCC1_ENST00000345148.5_Silent_p.L183L	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	183					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	CCCTCTTACTCATTCAGCTCG	0.493																																						uc010bvi.2		NaN																	0				ovary(4)	4						c.(547-549)CTC>CTT		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						385.0	359.0	367.0					16																	16110412		2021	4193	6214	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16110412C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.549C>T	16.37:g.16110412C>T						ABCC1_uc010bvj.2_Silent_p.L183L|ABCC1_uc010bvk.2_Silent_p.L183L|ABCC1_uc010bvl.2_Silent_p.L183L|ABCC1_uc010bvm.2_Silent_p.L183L|ABCC1_uc002del.3_Silent_p.L67L|ABCC1_uc010bvn.2_Silent_p.L46L	p.L183L	NM_004996	NP_004987	P33527	MRP1_HUMAN			5	724	+			183			Helical; Name=5.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.549C>T	CCDS42122.1																																																																																				0.493	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1		NM_004996		53	276	0	0	0	0.01441	0	53	276		
ABCC1	4363	broad.mit.edu	37	16	16138333	16138333	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:16138333C>T	ENST00000399410.3	+	8	1011	c.836C>T	c.(835-837)tCc>tTc	p.S279F	ABCC1_ENST00000399408.2_Missense_Mutation_p.S279F|ABCC1_ENST00000346370.5_Missense_Mutation_p.S279F|ABCC1_ENST00000351154.5_Missense_Mutation_p.S279F|ABCC1_ENST00000349029.5_Missense_Mutation_p.S279F|ABCC1_ENST00000345148.5_Missense_Mutation_p.S279F	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	279					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GTGTACTCCTCCAAGGATCCT	0.587																																						uc010bvi.2		NaN																	0				ovary(4)	4						c.(835-837)TCC>TTC		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						74.0	72.0	73.0					16																	16138333		2004	4175	6179	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16138333C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.836C>T	16.37:g.16138333C>T	ENSP00000382342:p.Ser279Phe					ABCC1_uc010bvj.2_Missense_Mutation_p.S279F|ABCC1_uc010bvk.2_Missense_Mutation_p.S279F|ABCC1_uc010bvl.2_Missense_Mutation_p.S279F|ABCC1_uc010bvm.2_Missense_Mutation_p.S279F|ABCC1_uc002del.3_Missense_Mutation_p.S163F|ABCC1_uc010bvn.2_Missense_Mutation_p.S142F	p.S279F	NM_004996	NP_004987	P33527	MRP1_HUMAN			8	1011	+			279			Cytoplasmic.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.836C>T	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	c	13.61	2.288932	0.40494	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029	D;D;D;T;D;D	0.90133	-2.6;-2.62;-2.25;0.83;-2.55;-2.46	4.83	4.83	0.62350	.	0.483471	0.22922	N	0.054013	D	0.90539	0.7035	L	0.27053	0.805	0.37845	D	0.929192	P;D;P;P;P;P;P	0.56035	0.874;0.974;0.889;0.947;0.874;0.913;0.947	P;P;P;P;B;P;P	0.56278	0.667;0.748;0.622;0.718;0.444;0.526;0.795	D	0.92741	0.6208	10	0.62326	D	0.03	-18.567	17.277	0.87119	0.0:1.0:0.0:0.0	.	279;279;279;279;279;279;279	P33527-6;P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;.;MRP1_HUMAN;.	F	279	ENSP00000382342:S279F;ENSP00000382340:S279F;ENSP00000263019:S279F;ENSP00000263017:S279F;ENSP00000263014:S279F;ENSP00000263016:S279F	ENSP00000263014:S279F	S	+	2	0	ABCC1	16045834	1.000000	0.71417	0.999000	0.59377	0.160000	0.22226	4.426000	0.59882	2.406000	0.81754	0.543000	0.68304	TCC		0.587	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1		NM_004996		10	49	0	0	0	0.010729	0	10	49		
SMG1	23049	broad.mit.edu	37	16	18853033	18853033	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:18853033C>T	ENST00000446231.2	-	41	6962	c.6550G>A	c.(6550-6552)Gaa>Aaa	p.E2184K	SMG1_ENST00000389467.3_Missense_Mutation_p.E2184K			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2184	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CGGGGTGTTTCTTGGCGATTA	0.413																																						uc002dfm.2		NaN																	0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(6550-6552)GAA>AAA		PI-3-kinase-related kinase SMG-1							274.0	257.0	263.0					16																	18853033		1922	4129	6051	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18853033C>T	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.6550G>A	16.37:g.18853033C>T	ENSP00000402515:p.Glu2184Lys					SMG1_uc010bwb.2_Missense_Mutation_p.E2044K|SMG1_uc010bwa.2_Missense_Mutation_p.E915K|SMG1_uc002dfo.3_Missense_Mutation_p.E482K	p.E2184K	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			41	6913	-			2184			PI3K/PI4K.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.6550G>A	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.815242	0.70912	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.77750	-1.12;-1.12	5.48	5.48	0.80851	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.64402	D	0.000001	T	0.76328	0.3972	N	0.11427	0.14	0.53005	D	0.999969	D;D	0.69078	0.996;0.997	D;D	0.79108	0.981;0.992	T	0.69967	-0.5001	10	0.07644	T	0.81	.	19.7139	0.96107	0.0:1.0:0.0:0.0	.	2044;2184	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	K	2184	ENSP00000402515:E2184K;ENSP00000374118:E2184K	ENSP00000374118:E2184K	E	-	1	0	SMG1	18760534	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.715000	0.84713	2.722000	0.93159	0.655000	0.94253	GAA		0.413	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1		NM_015092		115	164	0	0	0	0.01441	0	115	164		
DNAH3	55567	broad.mit.edu	37	16	21082053	21082053	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:21082053T>A	ENST00000261383.3	-	22	3178	c.3179A>T	c.(3178-3180)aAa>aTa	p.K1060I	DNAH3_ENST00000415178.1_Missense_Mutation_p.K1060I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1060	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCTATTGGTTTGATGAATGG	0.433																																						uc010vbe.1		NaN																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(3178-3180)AAA>ATA		dynein, axonemal, heavy chain 3							207.0	188.0	194.0					16																	21082053		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21082053T>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3179A>T	16.37:g.21082053T>A	ENSP00000261383:p.Lys1060Ile						p.K1060I	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	22	3179	-			1060			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3179A>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.782159	0.90282	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.64085	-0.08;-0.08	5.69	5.69	0.88448	Dynein heavy chain, domain-2 (1);	0.058557	0.64402	D	0.000004	D	0.83193	0.5201	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.86682	0.1917	10	0.59425	D	0.04	.	15.9499	0.79827	0.0:0.0:0.0:1.0	.	1060	Q8TD57	DYH3_HUMAN	I	1060	ENSP00000261383:K1060I;ENSP00000394245:K1060I	ENSP00000261383:K1060I	K	-	2	0	DNAH3	20989554	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	5.028000	0.64115	2.176000	0.68965	0.467000	0.42956	AAA		0.433	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		24	148	0	0	0	0.00333	0	24	148		
IL21R	50615	broad.mit.edu	37	16	27460069	27460069	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:27460069C>G	ENST00000337929.3	+	9	1555	c.1082C>G	c.(1081-1083)tCa>tGa	p.S361*	IL21R_ENST00000395755.1_Nonsense_Mutation_p.S361*|IL21R_ENST00000564089.1_Nonsense_Mutation_p.S361*|IL21R_ENST00000395754.4_Nonsense_Mutation_p.S361*|IL21R-AS1_ENST00000563191.1_RNA	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	361					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TCGGGGGGCTCAGCTTACAGT	0.617			T	BCL6	NHL																																	uc002doq.1		NaN		Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				ovary(2)|lung(1)|breast(1)	4						c.(1081-1083)TCA>TGA		interleukin 21 receptor precursor							59.0	58.0	58.0					16																	27460069		2197	4300	6497	SO:0001587	stop_gained	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27460069C>G	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1082C>G	16.37:g.27460069C>G	ENSP00000338010:p.Ser361*					IL21R_uc002dor.1_Nonsense_Mutation_p.S361*|IL21R_uc002dos.1_Nonsense_Mutation_p.S361*|uc002dot.2_RNA	p.S361*	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN			9	1315	+			361			Cytoplasmic (Potential).		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Nonsense_Mutation	SNP	ENST00000337929.3	37	c.1082C>G	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338850	0.60963	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	.	.	.	5.19	0.488	0.16848	.	0.477995	0.22091	N	0.064754	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-5.0253	8.0772	0.30722	0.0:0.6061:0.0:0.3939	.	.	.	.	X	361	.	ENSP00000338010:S361X	S	+	2	0	IL21R	27367570	0.006000	0.16342	0.004000	0.12327	0.010000	0.07245	1.081000	0.30791	0.217000	0.20800	-0.254000	0.11334	TCA		0.617	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2		NM_181078		13	64	0	0	0	0.007413	0	13	64		
HIRIP3	8479	broad.mit.edu	37	16	30005479	30005479	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:30005479C>T	ENST00000279392.3	-	4	1817	c.987G>A	c.(985-987)ttG>ttA	p.L329L	INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000304516.7_5'Flank|INO80E_ENST00000567254.1_5'Flank|HIRIP3_ENST00000564026.1_Intron|INO80E_ENST00000563197.1_5'Flank|HIRIP3_ENST00000566471.1_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	329					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TGCTTCCACTCAACCTCTTCC	0.572																																						uc002dve.2		NaN																	0				central_nervous_system(1)	1						c.(985-987)TTG>TTA		HIRA interacting protein 3							201.0	160.0	174.0					16																	30005479		2197	4300	6497	SO:0001819	synonymous_variant	8479				chromatin assembly or disassembly	nucleus	protein binding	g.chr16:30005479C>T	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.987G>A	16.37:g.30005479C>T						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Intron	p.L329L	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN			4	1448	-			329					H3BSR3|O75707|O75708	Silent	SNP	ENST00000279392.3	37	c.987G>A	CCDS10664.1																																																																																				0.572	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2		NM_003609		27	80	0	0	0	0.009535	0	27	80		
SEPT1	1731	broad.mit.edu	37	16	30388008	30388008	+	IGR	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:30388008C>G	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Missense_Mutation_p.I115M			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			AGGGCACCATCAAGAAGAAGT	0.582																																						uc002dxv.1		NaN																	0					0						c.(343-345)ATC>ATG		myosin light chain, phosphorylatable, fast							69.0	64.0	66.0					16																	30388008		2197	4300	6497	SO:0001628	intergenic_variant	29895				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr16:30388008C>G	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30388008C>G							p.I115M	NM_013292	NP_037424	Q96A32	MLRS_HUMAN	Colorectal(24;0.193)		5	401	+			115			EF-hand 2.		B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37	c.345C>G		.	.	.	.	.	.	.	.	.	.	C	14.99	2.699415	0.48307	.	.	ENSG00000180209	ENST00000322861	D	0.87029	-2.2	4.99	4.0	0.46444	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.91710	0.7379	M	0.89030	3	0.54753	D	0.999985	P	0.36990	0.577	P	0.49451	0.611	D	0.91511	0.5227	10	0.72032	D	0.01	.	9.992	0.41877	0.165:0.6944:0.1405:0.0	.	115	Q96A32	MLRS_HUMAN	M	115	ENSP00000325239:I115M	ENSP00000325239:I115M	I	+	3	3	MYLPF	30295509	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	1.159000	0.31749	1.008000	0.39264	0.453000	0.30009	ATC		0.582	SEPT1-201	KNOWN	basic	protein_coding	protein_coding			NM_052838		3	19	0	0	0	0.004672	0	3	19		
SRCAP	10847	broad.mit.edu	37	16	30749040	30749040	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:30749040C>G	ENST00000262518.4	+	34	8064	c.7679C>G	c.(7678-7680)tCt>tGt	p.S2560C	RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.S2498C|SRCAP_ENST00000344771.4_Missense_Mutation_p.S2402C	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2560	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCATTGGCATCTCCAGAGTCC	0.562																																						uc002dze.1		NaN																	0				ovary(3)|skin(1)	4						c.(7678-7680)TCT>TGT		Snf2-related CBP activator protein							82.0	82.0	82.0					16																	30749040		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30749040C>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7679C>G	16.37:g.30749040C>G	ENSP00000262518:p.Ser2560Cys					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.S2355C	p.S2560C	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	8064	+			2560			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.7679C>G	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	6.186	0.402569	0.11696	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91631	-2.85;-2.88;-2.87	4.8	3.77	0.43336	.	0.466390	0.18308	N	0.145192	D	0.83431	0.5253	N	0.08118	0	0.24101	N	0.995871	D;P	0.54964	0.969;0.947	P;B	0.46479	0.518;0.319	T	0.75814	-0.3185	10	0.56958	D	0.05	-6.852	7.1368	0.25533	0.0:0.8765:0.0:0.1235	.	2498;2560	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	C	2560;2498;2402	ENSP00000262518:S2560C;ENSP00000378499:S2498C;ENSP00000343042:S2402C	ENSP00000262518:S2560C	S	+	2	0	SRCAP	30656541	0.969000	0.33509	0.967000	0.41034	0.559000	0.35586	1.992000	0.40737	2.497000	0.84241	0.467000	0.42956	TCT		0.562	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1		NM_006662		17	43	0	0	0	0.00499	0	17	43		
RSPRY1	89970	broad.mit.edu	37	16	57250818	57250818	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:57250818G>T	ENST00000537866.1	+	8	1645	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	RSPRY1_ENST00000394420.4_Nonsense_Mutation_p.E258*			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	258						extracellular region (GO:0005576)	zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCAAACAGGTGAAAATAAATT	0.378																																						uc002elb.2		NaN																	0				ovary(1)	1						c.(772-774)GAA>TAA		ring finger and SPRY domain containing 1							128.0	122.0	124.0					16																	57250818		2198	4300	6498	SO:0001587	stop_gained	89970					extracellular region	zinc ion binding	g.chr16:57250818G>T	AB075852	CCDS10775.1	16q13	2014-02-12			ENSG00000159579	ENSG00000159579		"""RING-type (C3HC4) zinc fingers"""	29420	protein-coding gene	gene with protein product						11853319	Standard	NM_133368		Approved	KIAA1972	uc002elb.3	Q96DX4	OTTHUMG00000133462	ENST00000537866.1:c.772G>T	16.37:g.57250818G>T	ENSP00000443176:p.Glu258*					RSPRY1_uc002elc.2_Nonsense_Mutation_p.E258*|RSPRY1_uc002eld.2_Nonsense_Mutation_p.E258*	p.E258*	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN			8	1050	+			258					Q6UX21|Q8ND53	Nonsense_Mutation	SNP	ENST00000537866.1	37	c.772G>T	CCDS10775.1	.	.	.	.	.	.	.	.	.	.	G	45	12.061088	0.99632	.	.	ENSG00000159579	ENST00000394420;ENST00000537866	.	.	.	5.76	5.76	0.90799	.	0.094604	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.9719	0.97287	0.0:0.0:1.0:0.0	.	.	.	.	X	258	.	ENSP00000377942:E258X	E	+	1	0	RSPRY1	55808319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.758000	0.98927	2.718000	0.92993	0.650000	0.86243	GAA		0.378	RSPRY1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432953.1		NM_133368		16	78	1	0	8.00594e-06	0.007413	8.32926e-06	16	78		
DOK4	55715	broad.mit.edu	37	16	57508744	57508744	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:57508744T>C	ENST00000340099.4	-	6	931	c.560A>G	c.(559-561)tAt>tGt	p.Y187C	DOK4_ENST00000561918.1_5'Flank|DOK4_ENST00000569548.1_Missense_Mutation_p.Y187C|DOK4_ENST00000566936.1_Missense_Mutation_p.Y187C	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	187	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						ATCCCGGCCATAGCGGCGCAG	0.612																																						uc010cdb.2		NaN																	0				skin(1)	1						c.(559-561)TAT>TGT		docking protein 4							88.0	76.0	80.0					16																	57508744		2198	4300	6498	SO:0001583	missense	55715						insulin receptor binding	g.chr16:57508744T>C	BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"""Pleckstrin homology (PH) domain containing"""	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.560A>G	16.37:g.57508744T>C	ENSP00000344277:p.Tyr187Cys					DOK4_uc002elu.1_Missense_Mutation_p.Y187C|DOK4_uc002elv.3_Missense_Mutation_p.Y187C	p.Y187C	NM_018110	NP_060580	Q8TEW6	DOK4_HUMAN			5	858	-			187			IRS-type PTB.		O75209|Q9BTP2|Q9NVV3	Missense_Mutation	SNP	ENST00000340099.4	37	c.560A>G	CCDS10783.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.402118	0.83230	.	.	ENSG00000125170	ENST00000340099	D	0.89681	-2.55	5.06	3.94	0.45596	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.070765	0.56097	D	0.000022	D	0.94430	0.8208	M	0.89715	3.055	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92797	0.6253	10	0.28530	T	0.3	-9.3872	11.2339	0.48929	0.0:0.0:0.1538:0.8462	.	187;187	Q8TEW6;B2RD67	DOK4_HUMAN;.	C	187	ENSP00000344277:Y187C	ENSP00000344277:Y187C	Y	-	2	0	DOK4	56066245	1.000000	0.71417	0.955000	0.39395	0.980000	0.70556	7.972000	0.88022	0.735000	0.32537	0.459000	0.35465	TAT		0.612	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3				12	35	0	0	0	0.004007	0	12	35		
KIFC3	3801	broad.mit.edu	37	16	57789144	57789144	+	IGR	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:57789144C>T	ENST00000379655.4	-	0	3427				KATNB1_ENST00000379661.3_Silent_p.F470F	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3						ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CCTCCGACTTCCTGCCCGTGA	0.662																																						uc002eml.1		NaN																	0					0						c.(1408-1410)TTC>TTT		katanin p80 subunit B 1							27.0	29.0	28.0					16																	57789144		2197	4300	6497	SO:0001628	intergenic_variant	10300				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity	g.chr16:57789144C>T	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455		16.37:g.57789144C>T							p.F470F	NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN			15	1784	+		all_neural(199;0.223)	470			Interaction with KATNA1 and NDEL1 (By similarity).		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Silent	SNP	ENST00000379655.4	37	c.1410C>T	CCDS10789.2																																																																																				0.662	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2		NM_005550		3	13	0	0	0	0.014758	0	3	13		
KIFC3	3801	broad.mit.edu	37	16	57789809	57789809	+	IGR	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:57789809G>C	ENST00000379655.4	-	0	3427				KATNB1_ENST00000379661.3_Silent_p.L541L	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3						ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TGGACCTCCTGAACATCGTCA	0.642																																						uc002eml.1		NaN																	0					0						c.(1621-1623)CTG>CTC		katanin p80 subunit B 1							75.0	73.0	74.0					16																	57789809		2198	4300	6498	SO:0001628	intergenic_variant	10300				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity	g.chr16:57789809G>C	BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455		16.37:g.57789809G>C							p.L541L	NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN			17	1997	+		all_neural(199;0.223)	541			Interaction with KATNA1 and NDEL1 (By similarity).		A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Silent	SNP	ENST00000379655.4	37	c.1623G>C	CCDS10789.2																																																																																				0.642	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2		NM_005550		17	40	0	0	0	0.012319	0	17	40		
TANGO6	79613	broad.mit.edu	37	16	68909058	68909058	+	Splice_Site	SNP	G	G	A	rs373016239		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:68909058G>A	ENST00000261778.1	+	5	1008	c.996G>A	c.(994-996)gcG>gcA	p.A332A		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	332						integral component of membrane (GO:0016021)											TTGTGCCAGCGGGAGCAGCTG	0.468																																						uc002ewi.3		NaN																	0					0						c.(994-996)GCG>GCA		transmembrane and coiled-coil domains 7							77.0	87.0	84.0					16																	68909058		2132	4249	6381	SO:0001630	splice_region_variant	79613					integral to membrane	binding	g.chr16:68909058G>A		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.995-1G>A	16.37:g.68909058G>A							p.A332A	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	5	1008	+		Ovarian(137;0.0568)	332					Q569F9|Q9H9K1	Silent	SNP	ENST00000261778.1	37	c.996G>A	CCDS45516.1																																																																																				0.468	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2		XM_928235.2	Silent	17	50	0	0	0	0.014323	0	17	50		
HYDIN	54768	broad.mit.edu	37	16	70942755	70942755	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:70942755C>G	ENST00000393567.2	-	48	8164	c.8014G>C	c.(8014-8016)Gag>Cag	p.E2672Q		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2672					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGGTCTGCTCCTCTTGAGCC	0.423																																						uc002ezr.2		NaN																	0				ovary(1)|skin(1)	2						c.(8011-8013)GAG>CAG		hydrocephalus inducing isoform a							44.0	40.0	41.0					16																	70942755		1825	4073	5898	SO:0001583	missense	54768							g.chr16:70942755C>G	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8014G>C	16.37:g.70942755C>G	ENSP00000377197:p.Glu2672Gln						p.E2671Q	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			48	8139	-		Ovarian(137;0.0654)	2672					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.8011G>C	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	30	5.050828	0.93740	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01059	5.39	5.63	5.63	0.86233	.	0.000000	0.32836	U	0.005582	T	0.04318	0.0119	M	0.66939	2.045	0.80722	D	1	D	0.57899	0.981	P	0.53490	0.727	T	0.54330	-0.8310	10	0.35671	T	0.21	.	18.2504	0.90000	0.0:1.0:0.0:0.0	.	2671	F8WD23	.	Q	2672;2671	ENSP00000377197:E2672Q	ENSP00000313052:E2671Q	E	-	1	0	HYDIN	69500256	0.993000	0.37304	0.992000	0.48379	0.481000	0.33189	2.475000	0.45162	2.658000	0.90341	0.603000	0.83216	GAG		0.423	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3				19	35	0	0	0	0.012319	0	19	35		
ADAMTS18	170692	broad.mit.edu	37	16	77325218	77325218	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:77325218G>C	ENST00000282849.5	-	21	3765	c.3347C>G	c.(3346-3348)cCa>cGa	p.P1116R	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1116	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGGATGGGCTGGGCAAGCCCG	0.512																																						uc002ffc.3		NaN																	0				large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(3346-3348)CCA>CGA		ADAM metallopeptidase with thrombospondin type 1							129.0	125.0	126.0					16																	77325218		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77325218G>C	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3347C>G	16.37:g.77325218G>C	ENSP00000282849:p.Pro1116Arg						p.P1116R	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			21	3766	-			1116			TSP type-1 4.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.3347C>G	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959486	0.53400	.	.	ENSG00000140873	ENST00000282849	T	0.61510	0.1	5.8	5.8	0.92144	.	0.056353	0.64402	D	0.000001	T	0.81777	0.4894	M	0.91090	3.175	0.53005	D	0.999962	D	0.63880	0.993	D	0.71184	0.972	D	0.85128	0.0973	10	0.87932	D	0	.	19.0575	0.93072	0.0:0.0:1.0:0.0	.	1116	Q8TE60	ATS18_HUMAN	R	1116	ENSP00000282849:P1116R	ENSP00000282849:P1116R	P	-	2	0	ADAMTS18	75882719	1.000000	0.71417	0.848000	0.33437	0.070000	0.16714	5.451000	0.66632	2.758000	0.94735	0.563000	0.77884	CCA		0.512	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1				17	87	0	0	0	0.007413	0	17	87		
ADAMTS18	170692	broad.mit.edu	37	16	77328882	77328882	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:77328882G>C	ENST00000282849.5	-	19	3362	c.2944C>G	c.(2944-2946)Cag>Gag	p.Q982E		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	982	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCTTGGACCTGAGTGGGTGTG	0.542																																						uc002ffc.3		NaN																	0				large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(2944-2946)CAG>GAG		ADAM metallopeptidase with thrombospondin type 1							125.0	81.0	96.0					16																	77328882		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77328882G>C	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2944C>G	16.37:g.77328882G>C	ENSP00000282849:p.Gln982Glu					ADAMTS18_uc010chc.1_Missense_Mutation_p.Q570E	p.Q982E	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			19	3363	-			982			TSP type-1 2.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.2944C>G	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481507	0.26598	.	.	ENSG00000140873	ENST00000282849	T	0.57595	0.39	5.79	5.79	0.91817	.	0.060404	0.64402	D	0.000002	T	0.36413	0.0966	N	0.16567	0.415	0.80722	D	1	B;B	0.14012	0.009;0.009	B;B	0.17098	0.002;0.017	T	0.29427	-1.0012	10	0.02654	T	1	.	19.0281	0.92941	0.0:0.0:1.0:0.0	.	982;982	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	E	982	ENSP00000282849:Q982E	ENSP00000282849:Q982E	Q	-	1	0	ADAMTS18	75886383	1.000000	0.71417	0.961000	0.40146	0.995000	0.86356	6.083000	0.71326	2.733000	0.93635	0.655000	0.94253	CAG		0.542	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1				13	22	0	0	0	0.00245	0	13	22		
MBTPS1	8720	broad.mit.edu	37	16	84135328	84135328	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:84135328G>C	ENST00000343411.3	-	2	556	c.61C>G	c.(61-63)Ctg>Gtg	p.L21V		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	21					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTGTCGCCCAGATGTTTCTTC	0.438																																						uc002fhi.2		NaN																	0				ovary(2)	2						c.(61-63)CTG>GTG		membrane-bound transcription factor site-1							118.0	116.0	116.0					16																	84135328		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84135328G>C	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.61C>G	16.37:g.84135328G>C	ENSP00000344223:p.Leu21Val						p.L21V	NM_003791	NP_003782	Q14703	MBTP1_HUMAN			2	563	-			21					A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.61C>G	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789031	0.49997	.	.	ENSG00000140943	ENST00000343411	T	0.30448	1.53	6.17	5.21	0.72293	.	0.248067	0.33401	N	0.004956	T	0.18841	0.0452	N	0.12182	0.205	0.23862	N	0.996636	B	0.09022	0.002	B	0.12156	0.007	T	0.11348	-1.0591	10	0.38643	T	0.18	-19.449	13.2756	0.60186	0.1227:0.0:0.8773:0.0	.	21	Q14703	MBTP1_HUMAN	V	21	ENSP00000344223:L21V	ENSP00000344223:L21V	L	-	1	2	MBTPS1	82692829	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.715000	0.37971	2.941000	0.99782	0.655000	0.94253	CTG		0.438	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2		NM_003791		39	81	0	0	0	0.01441	0	39	81		
KCNG4	93107	broad.mit.edu	37	16	84256463	84256463	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:84256463T>C	ENST00000308251.4	-	3	988	c.920A>G	c.(919-921)tAc>tGc	p.Y307C		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	307					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CAGCGACACGTAGTATGGGGA	0.637																																						uc010voc.1		NaN																	0				breast(3)	3						c.(919-921)TAC>TGC		potassium voltage-gated channel, subfamily G,							62.0	66.0	65.0					16																	84256463		2200	4300	6500	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84256463T>C	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.920A>G	16.37:g.84256463T>C	ENSP00000312129:p.Tyr307Cys						p.Y307C	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN			3	1041	-			307			Helical; Name=Segment S3; (Potential).		Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.920A>G	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.877301	0.72294	.	.	ENSG00000168418	ENST00000308251	D	0.98701	-5.08	5.61	5.61	0.85477	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98440	1.0586	10	0.87932	D	0	.	14.9886	0.71368	0.0:0.0:0.0:1.0	.	307	Q8TDN1	KCNG4_HUMAN	C	307	ENSP00000312129:Y307C	ENSP00000312129:Y307C	Y	-	2	0	KCNG4	82813964	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	8.040000	0.89188	2.127000	0.65507	0.533000	0.62120	TAC		0.637	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2		NM_172347		4	15	0	0	0	0.014758	0	4	15		
VPS9D1	9605	broad.mit.edu	37	16	89777137	89777137	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr16:89777137C>G	ENST00000389386.3	-	10	1239	c.1115G>C	c.(1114-1116)gGa>gCa	p.G372A	VPS9D1-AS1_ENST00000562866.1_RNA|VPS9D1_ENST00000565452.1_5'Flank|VPS9D1_ENST00000561976.1_Missense_Mutation_p.G302A	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	372					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										GTCTGGCAATCCAGATGCGGT	0.726																																						uc002fom.1		NaN																	0					0						c.(1114-1116)GGA>GCA		chromosome 16 open reading frame 7							8.0	10.0	9.0					16																	89777137		1919	4118	6037	SO:0001583	missense	9605				ATP synthesis coupled proton transport		GTPase activator activity|transporter activity	g.chr16:89777137C>G	AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.1115G>C	16.37:g.89777137C>G	ENSP00000374037:p.Gly372Ala					C16orf7_uc002fol.1_Missense_Mutation_p.G302A|uc002fon.1_5'Flank	p.G372A	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	10	1240	-		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	372						Missense_Mutation	SNP	ENST00000389386.3	37	c.1115G>C	CCDS42220.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.143|0.143	-1.100523|-1.100523	0.01843|0.01843	.|.	.|.	ENSG00000075399|ENSG00000075399	ENST00000261625|ENST00000389386	.|.	.|.	.|.	3.36|3.36	-3.48|-3.48	0.04739|0.04739	.|.	.|3.202640	.|0.00687	.|N	.|0.000703	T|T	0.14098|0.14098	0.0341|0.0341	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.15930	.|0.015	.|B	.|0.12156	.|0.007	T|T	0.24728|0.24728	-1.0152|-1.0152	6|9	0.72032|0.10636	D|T	0.01|0.68	-8.7512|-8.7512	8.7931|8.7931	0.34863|0.34863	0.0:0.5975:0.0:0.4025|0.0:0.5975:0.0:0.4025	.|.	.|372	.|Q9Y2B5	.|CP007_HUMAN	H|A	403|372	.|.	ENSP00000261625:D403H|ENSP00000374037:G372A	D|G	-|-	1|2	0|0	C16orf7|C16orf7	88304638|88304638	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-2.092000|-2.092000	0.01354|0.01354	-0.788000|-0.788000	0.04504|0.04504	-0.367000|-0.367000	0.07326|0.07326	GAT|GGA		0.726	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1		NM_004913		2	6	0	0	0	0.004672	0	2	6		
ZNF594	84622	broad.mit.edu	37	17	5086808	5086808	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:5086808G>T	ENST00000399604.4	-	1	884	c.744C>A	c.(742-744)ttC>ttA	p.F248L	ZNF594_ENST00000575779.1_Missense_Mutation_p.F248L			Q96JF6	ZN594_HUMAN	zinc finger protein 594	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGCTTTGACTGAAAGCCTTCC	0.428																																						uc010cla.1		NaN																	0				ovary(2)|skin(1)	3						c.(742-744)TTC>TTA		zinc finger protein 594							119.0	123.0	121.0					17																	5086808		2155	4287	6442	SO:0001583	missense	84622				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:5086808G>T	AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.744C>A	17.37:g.5086808G>T	ENSP00000382513:p.Phe248Leu						p.F248L	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN			2	900	-			248			C2H2-type 5.		Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	c.744C>A	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167789	0.57476	.	.	ENSG00000180626	ENST00000399604	T	0.46063	0.88	2.5	1.35	0.21983	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.66406	0.2786	M	0.91561	3.22	0.22489	N	0.999053	D	0.89917	1.0	D	0.85130	0.997	T	0.53443	-0.8438	9	0.87932	D	0	.	6.3074	0.21147	0.1936:0.0:0.8064:0.0	.	248	Q96JF6	ZN594_HUMAN	L	248	ENSP00000382513:F248L	ENSP00000382513:F248L	F	-	3	2	ZNF594	5027532	0.704000	0.27836	0.962000	0.40283	0.897000	0.52465	0.786000	0.26844	0.263000	0.21812	0.462000	0.41574	TTC		0.428	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1		XM_290737		72	84	1	0	8.87156e-34	0.01441	9.59903e-34	72	84		
TP53	7157	broad.mit.edu	37	17	7578239	7578239	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:7578239C>G	ENST00000269305.4	-	6	799	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	TP53_ENST00000445888.2_Missense_Mutation_p.E204Q|TP53_ENST00000359597.4_Missense_Mutation_p.E204Q|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E204Q|TP53_ENST00000420246.2_Missense_Mutation_p.E204Q|TP53_ENST00000413465.2_Missense_Mutation_p.E204Q	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	204	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|VE -> LV (in a sporadic cancer; 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.E204*(33)|p.0?(8)|p.?(5)|p.E72*(3)|p.E111*(3)|p.E204K(2)|p.E204fs*43(2)|p.E204Q(1)|p.E204fs*4(1)|p.V203_E204>V*(1)|p.V203_E204>LV(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(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)	TCCAAATACTCCACACGCAAA	0.542		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		63	Substitution - Nonsense(39)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Substitution - Missense(3)|Complex - compound substitution(2)|Deletion - In frame(1)	p.E204*(23)|p.0?(7)|p.E204fs*5(3)|p.E204G(2)|p.E204E(2)|p.E204K(2)|p.E204fs*43(2)|p.K164_P219del(1)|p.E204Q(1)|p.E204D(1)|p.E204fs*4(1)|p.E204A(1)|p.V203_E204>V*(1)|p.E204V(1)|p.V203_E204>LV(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(1)	lung(15)|haematopoietic_and_lymphoid_tissue(7)|large_intestine(6)|upper_aerodigestive_tract(5)|biliary_tract(5)|NS(5)|breast(4)|bone(4)|oesophagus(3)|ovary(3)|central_nervous_system(2)|stomach(1)|liver(1)|urinary_tract(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						c.(610-612)GAG>CAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							133.0	118.0	123.0					17																	7578239		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.chr17:7578239C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.610G>C	17.37:g.7578239C>G	ENSP00000269305:p.Glu204Gln	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.E204Q|TP53_uc002gih.2_Missense_Mutation_p.E204Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E72Q|TP53_uc010cng.1_Missense_Mutation_p.E72Q|TP53_uc002gii.1_Missense_Mutation_p.E72Q|TP53_uc010cnh.1_Missense_Mutation_p.E204Q|TP53_uc010cni.1_Missense_Mutation_p.E204Q|TP53_uc002gij.2_Missense_Mutation_p.E204Q|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.E111Q|TP53_uc002gio.2_Missense_Mutation_p.E72Q|TP53_uc010vug.1_Missense_Mutation_p.E165Q	p.E204Q	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	804	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	204		E -> A (in sporadic cancers; somatic mutation).|VE -> LV (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (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.610G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	8.493	0.862552	0.17178	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99751	-6.63;-6.63;-6.63;-6.63;-6.63;-6.63;-6.63;-6.63	5.41	-0.604	0.11626	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.445020	0.26082	N	0.026458	D	0.98068	0.9363	N	0.17345	0.48	0.21933	N	0.999463	P;B;B;P;B;P;P	0.51449	0.945;0.023;0.045;0.622;0.015;0.723;0.829	P;B;B;B;B;P;B	0.54026	0.74;0.032;0.025;0.333;0.037;0.554;0.348	D	0.99581	1.0973	10	0.02654	T	1	-5.2849	1.4244	0.02320	0.133:0.2829:0.3261:0.258	.	165;204;204;111;204;204;204	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Q	204;204;204;204;204;204;193;111;72;111;72	ENSP00000410739:E204Q;ENSP00000352610:E204Q;ENSP00000269305:E204Q;ENSP00000398846:E204Q;ENSP00000391127:E204Q;ENSP00000391478:E204Q;ENSP00000425104:E72Q;ENSP00000423862:E111Q	ENSP00000269305:E204Q	E	-	1	0	TP53	7518964	0.600000	0.26899	0.018000	0.16275	0.030000	0.12068	0.945000	0.29056	-0.004000	0.14419	0.655000	0.94253	GAG		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		21	39	0	0	0	0.003954	0	21	39		
TP53	7157	broad.mit.edu	37	17	7578488	7578488	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:7578488C>T	ENST00000269305.4	-	5	631	c.442G>A	c.(442-444)Gat>Aat	p.D148N	TP53_ENST00000445888.2_Missense_Mutation_p.D148N|TP53_ENST00000359597.4_Missense_Mutation_p.D148N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.D148N|TP53_ENST00000420246.2_Missense_Mutation_p.D148N|TP53_ENST00000413465.2_Missense_Mutation_p.D148N	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	148	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a sporadic cancer; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.D148N(4)|p.D148fs*23(2)|p.D148fs*33(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.D148Y(1)|p.W146_S149>C(1)|p.D148del(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.D148fs*34(1)|p.D148fs*22(1)|p.D148fs*32(1)|p.D148*(1)|p.D148H(1)|p.V143_S149del(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)	GGTGTGGAATCAACCCACAGC	0.602		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		29	Whole gene deletion(8)|Substitution - Missense(6)|Deletion - Frameshift(5)|Deletion - In frame(4)|Insertion - Frameshift(4)|Substitution - Nonsense(1)|Complex - deletion inframe(1)	p.0?(7)|p.D148E(4)|p.D148N(4)|p.D148V(2)|p.D148fs*23(2)|p.D148fs*22(2)|p.D148fs*33(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.W146_S149>C(1)|p.D148del(1)|p.Q144fs*32(1)|p.D148Y(1)|p.D148fs*34(1)|p.D148fs*32(1)|p.D148D(1)|p.D148*(1)|p.D148H(1)|p.V143_S149del(1)	bone(4)|breast(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|large_intestine(1)|stomach(1)|soft_tissue(1)|lung(1)|liver(1)|skin(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(442-444)GAT>AAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							57.0	57.0	57.0					17																	7578488		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.chr17:7578488C>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.442G>A	17.37:g.7578488C>T	ENSP00000269305:p.Asp148Asn	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.D148N|TP53_uc002gih.2_Missense_Mutation_p.D148N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.D16N|TP53_uc010cng.1_Missense_Mutation_p.D16N|TP53_uc002gii.1_Missense_Mutation_p.D16N|TP53_uc010cnh.1_Missense_Mutation_p.D148N|TP53_uc010cni.1_Missense_Mutation_p.D148N|TP53_uc002gij.2_Missense_Mutation_p.D148N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.D55N|TP53_uc002gio.2_Missense_Mutation_p.D16N|TP53_uc010vug.1_Missense_Mutation_p.D109N	p.D148N	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	636	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	148		D -> N (in sporadic cancers; somatic mutation).|D -> A (in a sporadic cancer; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|D -> G (in a sporadic cancer; 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.442G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	6.076	0.382404	0.11524	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99773	-6.72;-6.72;-6.72;-6.72;-6.72;-6.72;-6.72;-6.72;-6.72	5.48	-1.94	0.07571	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	1.542860	0.03516	N	0.220236	D	0.98096	0.9372	N	0.11064	0.09	0.09310	N	1	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.0;0.001	B;B;B;B;B;B;B	0.12156	0.007;0.001;0.002;0.005;0.004;0.002;0.004	D	0.99988	1.3768	10	0.35671	T	0.21	0.0	7.9062	0.29763	0.0:0.5524:0.1362:0.3114	.	109;148;148;55;148;148;148	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	148;148;148;148;148;148;137;55;16;55;16;148	ENSP00000410739:D148N;ENSP00000352610:D148N;ENSP00000269305:D148N;ENSP00000398846:D148N;ENSP00000391127:D148N;ENSP00000391478:D148N;ENSP00000425104:D16N;ENSP00000423862:D55N;ENSP00000424104:D148N	ENSP00000269305:D148N	D	-	1	0	TP53	7519213	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-1.032000	0.03574	-0.263000	0.09378	0.655000	0.94253	GAT		0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		36	32	0	0	0	0.006999	0	36	32		
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:7578534C>G	ENST00000269305.4	-	5	585	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000420246.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N	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	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; 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.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(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)	GGCAAAACATCTTGTTGAGGG	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		77	Substitution - Missense(51)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(1)|Substitution - coding silent(1)	p.K132N(40)|p.K132R(32)|p.K132E(19)|p.K132Q(13)|p.K132M(9)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.K132T(4)|p.K132*(2)|p.N131fs*27(2)|p.K132fs*38(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.M133fs*16(1)|p.V73fs*9(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.K132_A138delKMFCQLA(1)|p.S127fs*36(1)|p.K132K(1)|p.K132W(1)	urinary_tract(13)|breast(10)|ovary(10)|lung(9)|large_intestine(8)|haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(4)|bone(4)|adrenal_gland(3)|upper_aerodigestive_tract(2)|skin(2)|liver(2)|stomach(1)|penis(1)|oesophagus(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						c.(394-396)AAG>AAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							47.0	48.0	48.0					17																	7578534		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.chr17:7578534C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.396G>C	17.37:g.7578534C>G	ENSP00000269305:p.Lys132Asn	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.K132N|TP53_uc002gih.2_Missense_Mutation_p.K132N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.K132N|TP53_uc010cni.1_Missense_Mutation_p.K132N|TP53_uc002gij.2_Missense_Mutation_p.K132N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K39N|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.K93N	p.K132N	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	590	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	132		K -> T (in sporadic cancers; somatic mutation).|KM -> NL (in a sporadic cancer; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> R (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> Q (in sporadic cancers; somatic mutation).|K -> E (in LFS; germline mutation and 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.396G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123172	0.77436	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.48	3.5	0.40072	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	M	0.91768	3.24	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.998;0.993;0.996;0.999;0.998;1.0	D	0.97328	0.9948	10	0.87932	D	0	-14.0777	10.5581	0.45129	0.0:0.841:0.0:0.159	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132N;ENSP00000352610:K132N;ENSP00000269305:K132N;ENSP00000398846:K132N;ENSP00000391127:K132N;ENSP00000391478:K132N;ENSP00000423862:K39N;ENSP00000424104:K132N	ENSP00000269305:K132N	K	-	3	2	TP53	7519259	1.000000	0.71417	0.994000	0.49952	0.784000	0.44337	1.646000	0.37249	0.804000	0.34136	0.655000	0.94253	AAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		19	24	0	0	0	0.010504	0	19	24		
CDRT1	374286	broad.mit.edu	37	17	15522810	15522810	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:15522810G>C	ENST00000395906.3	-	1	16	c.17C>G	c.(16-18)tCa>tGa	p.S6*	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	6										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		CTTGAGCCTTGATTCCAGGTT	0.498																																						uc002gov.3		NaN																	0					0						c.(16-18)TCA>TGA		CMT1A duplicated region transcript 1							228.0	249.0	242.0					17																	15522810		2203	4300	6503	SO:0001587	stop_gained	374286							g.chr17:15522810G>C	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.17C>G	17.37:g.15522810G>C	ENSP00000379242:p.Ser6*					TRIM16_uc002gor.1_Intron	p.S6*	NM_006382	NP_006373	O95170	CDRT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)	1	209	-			6					O43848|O95611	Nonsense_Mutation	SNP	ENST00000395906.3	37	c.17C>G	CCDS45619.1	.	.	.	.	.	.	.	.	.	.	.	14.44	2.535821	0.45176	.	.	ENSG00000251537	ENST00000261644;ENST00000395906	.	.	.	5.01	-1.3	0.09259	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	3.6044	0.08037	0.3705:0.0:0.2499:0.3796	.	.	.	.	X	6	.	ENSP00000261644:S6X	S	-	2	0	RP11-385D13.1	15463535	0.003000	0.15002	0.000000	0.03702	0.040000	0.13550	0.244000	0.18124	-0.008000	0.14320	-0.300000	0.09419	TCA		0.498	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1		NM_006382		110	219	0	0	0	0.01441	0	110	219		
KIAA0100	9703	broad.mit.edu	37	17	26950907	26950907	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:26950907G>T	ENST00000528896.2	-	26	4904	c.4830C>A	c.(4828-4830)caC>caA	p.H1610Q	KIAA0100_ENST00000389003.3_Missense_Mutation_p.H1467Q|KIAA0100_ENST00000544884.1_Missense_Mutation_p.H1467Q	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1610						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGGCTGGATGGTGCTGGCACT	0.522																																						uc002hbu.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(4828-4830)CAC>CAA		hypothetical protein LOC9703 precursor							167.0	147.0	154.0					17																	26950907		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26950907G>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.4830C>A	17.37:g.26950907G>T	ENSP00000436773:p.His1610Gln					KIAA0100_uc002hbt.2_5'Flank	p.H1610Q	NM_014680	NP_055495	Q14667	K0100_HUMAN			26	4929	-	Lung NSC(42;0.00431)		1610					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.4830C>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595549	0.66219	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.39997	1.05;1.1	5.1	0.843	0.18935	.	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	M	0.66297	2.02	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.53570	-0.8420	10	0.40728	T	0.16	12.6264	10.7347	0.46117	0.2747:0.0:0.7253:0.0	.	1610	Q14667	K0100_HUMAN	Q	1610;1580;1610;1467	ENSP00000436773:H1610Q;ENSP00000446443:H1467Q	ENSP00000005905:H1610Q	H	-	3	2	KIAA0100	23975034	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.474000	0.35398	0.281000	0.22233	-0.254000	0.11334	CAC		0.522	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680		8	173	1	0	0.000274275	0.004482	0.000282634	8	173		
MYO18A	399687	broad.mit.edu	37	17	27413464	27413464	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:27413464G>A	ENST00000527372.1	-	39	6024	c.5844C>T	c.(5842-5844)ctC>ctT	p.L1948L	MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000354329.4_Silent_p.L1948L|MYO18A_ENST00000531253.1_Silent_p.L1948L|TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000533112.1_Silent_p.L1911L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1948					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ACCTGTTGATGAGGTCCTCAT	0.562																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1		NaN																	0					0						c.(5842-5844)CTC>CTT		myosin 18A isoform a							46.0	46.0	46.0					17																	27413464		2092	4226	6318	SO:0001819	synonymous_variant	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27413464G>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.5844C>T	17.37:g.27413464G>A						MYO18A_uc010wbc.1_Silent_p.L1481L|MYO18A_uc002hds.2_Silent_p.L1490L|MYO18A_uc010csa.1_Silent_p.L1911L|MYO18A_uc002hdu.1_Silent_p.L1948L	p.L1948L	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		39	6002	-			1948			Potential.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	ENST00000527372.1	37	c.5844C>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	9.262	1.043543	0.19748	.	.	ENSG00000196535	ENST00000527859	.	.	.	5.6	3.58	0.41010	.	.	.	.	.	T	0.63212	0.2492	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60611	-0.7229	4	.	.	.	.	12.6903	0.56970	0.1359:0.0:0.8641:0.0	.	.	.	.	L	211	.	.	S	-	2	0	MYO18A	24437590	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.322000	0.19576	0.820000	0.34516	0.655000	0.94253	TCA		0.562	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1		NM_078471		3	7	0	0	0	0.014758	0	3	7		
CCL1	6346	broad.mit.edu	37	17	32688819	32688819	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:32688819G>C	ENST00000225842.3	-	2	242	c.173C>G	c.(172-174)tCc>tGc	p.S58C		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	58					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		GCCCTCATTGGAGCAGATGGA	0.483											OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hid.1		NaN																	0					0						c.(172-174)TCC>TGC		small inducible cytokine A1 precursor							180.0	178.0	179.0					17																	32688819		2203	4300	6503	SO:0001583	missense	6346				cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity	g.chr17:32688819G>C	M57506	CCDS11282.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108702	ENSG00000108702		"""Endogenous ligands"""	10609	protein-coding gene	gene with protein product	"""inflammatory cytokine I-309"", ""T lymphocyte-secreted protein I-309"""	182281	"""small inducible cytokine A1 (I-309, homologous to mouse Tca-3)"""	SCYA1		2212659, 10409433	Standard	NM_002981		Approved	I-309, TCA3, P500, SISe	uc002hid.1	P22362	OTTHUMG00000132888	ENST00000225842.3:c.173C>G	17.37:g.32688819G>C	ENSP00000225842:p.Ser58Cys		OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	834		p.S58C	NM_002981	NP_002972	P22362	CCL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)	2	245	-		Ovarian(249;0.0443)|Breast(31;0.133)	58					B2R5G9|Q2M309	Missense_Mutation	SNP	ENST00000225842.3	37	c.173C>G	CCDS11282.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825576	0.32237	.	.	ENSG00000108702	ENST00000225842	T	0.05580	3.42	4.4	3.44	0.39384	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.918831	0.09268	N	0.825579	T	0.18045	0.0433	.	.	.	0.09310	N	1	D	0.76494	0.999	P	0.62649	0.905	T	0.11421	-1.0588	9	0.72032	D	0.01	-2.8958	8.4853	0.33067	0.1041:0.0:0.8959:0.0	.	58	P22362	CCL1_HUMAN	C	58	ENSP00000225842:S58C	ENSP00000225842:S58C	S	-	2	0	CCL1	29712932	0.024000	0.19004	0.009000	0.14445	0.008000	0.06430	1.621000	0.36986	1.462000	0.47948	-0.145000	0.13849	TCC		0.483	CCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256385.2		NM_002981		57	128	0	0	0	0.01441	0	57	128		
CCL1	6346	broad.mit.edu	37	17	32688887	32688887	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:32688887G>C	ENST00000225842.3	-	2	174	c.105C>G	c.(103-105)ttC>ttG	p.F35L		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	35					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		CCGCAAATGAGAAGCAACATC	0.453											OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hid.1		NaN																	0					0						c.(103-105)TTC>TTG		small inducible cytokine A1 precursor							118.0	115.0	116.0					17																	32688887		2203	4300	6503	SO:0001583	missense	6346				cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity	g.chr17:32688887G>C	M57506	CCDS11282.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108702	ENSG00000108702		"""Endogenous ligands"""	10609	protein-coding gene	gene with protein product	"""inflammatory cytokine I-309"", ""T lymphocyte-secreted protein I-309"""	182281	"""small inducible cytokine A1 (I-309, homologous to mouse Tca-3)"""	SCYA1		2212659, 10409433	Standard	NM_002981		Approved	I-309, TCA3, P500, SISe	uc002hid.1	P22362	OTTHUMG00000132888	ENST00000225842.3:c.105C>G	17.37:g.32688887G>C	ENSP00000225842:p.Phe35Leu		OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	834		p.F35L	NM_002981	NP_002972	P22362	CCL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)	2	177	-		Ovarian(249;0.0443)|Breast(31;0.133)	35					B2R5G9|Q2M309	Missense_Mutation	SNP	ENST00000225842.3	37	c.105C>G	CCDS11282.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489488	0.26686	.	.	ENSG00000108702	ENST00000225842	T	0.03553	3.89	4.31	-1.26	0.09376	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.657863	0.14816	N	0.296762	T	0.02418	0.0074	.	.	.	0.09310	N	1	B	0.31256	0.316	B	0.32022	0.139	T	0.43750	-0.9372	9	0.34782	T	0.22	-17.5657	3.5063	0.07692	0.4011:0.0:0.4175:0.1814	.	35	P22362	CCL1_HUMAN	L	35	ENSP00000225842:F35L	ENSP00000225842:F35L	F	-	3	2	CCL1	29713000	0.000000	0.05858	0.009000	0.14445	0.010000	0.07245	0.302000	0.19192	-0.151000	0.11176	-0.145000	0.13849	TTC		0.453	CCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256385.2		NM_002981		28	77	0	0	0	0.010818	0	28	77		
SLFN12L	100506736	broad.mit.edu	37	17	33807129	33807129	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:33807129G>A	ENST00000260908.7	-	2	217	c.100C>T	c.(100-102)Cta>Tta	p.L34L	SLFN12L_ENST00000449046.1_Silent_p.L65L|RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000361112.4_Silent_p.L63L	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	34						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CCCACATTTAGAACCAGCTCA	0.388																																						uc002hjn.2		NaN																	0				ovary(1)	1						c.(187-189)CTA>TTA		schlafen family member 12-like							52.0	40.0	44.0					17																	33807129		692	1591	2283	SO:0001819	synonymous_variant	342615							g.chr17:33807129G>A	AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.100C>T	17.37:g.33807129G>A							p.L63L	NM_001145027	NP_001138499					3	1066	-								F5H6G3	Silent	SNP	ENST00000260908.7	37	c.187C>T	CCDS56026.1																																																																																				0.388	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2		XM_496206		9	30	0	0	0	0.006214	0	9	30		
MED24	9862	broad.mit.edu	37	17	38178927	38178927	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:38178927G>C	ENST00000394128.2	-	21	2484	c.2403C>G	c.(2401-2403)ctC>ctG	p.L801L	MED24_ENST00000356271.3_Silent_p.L788L|MED24_ENST00000394127.2_Silent_p.L788L|MED24_ENST00000394126.1_Silent_p.L826L|MED24_ENST00000501516.3_Silent_p.L820L	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	801					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GGGGGTCCATGAGGCTGTGCC	0.617																																						uc002htt.2		NaN																	0				ovary(1)	1						c.(2401-2403)CTC>CTG		mediator complex subunit 24 isoform 1							61.0	58.0	59.0					17																	38178927		2203	4300	6503	SO:0001819	synonymous_variant	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38178927G>C	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.2403C>G	17.37:g.38178927G>C						MED24_uc010weq.1_5'Flank|MED24_uc002htr.2_5'Flank|MED24_uc010wer.1_Silent_p.L136L|MED24_uc010wes.1_Silent_p.L661L|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Silent_p.L826L|MED24_uc002htu.2_Silent_p.L788L|MED24_uc010cwn.2_Silent_p.L788L|MED24_uc010weu.1_Silent_p.L711L|MED24_uc010wev.1_Silent_p.L751L	p.L801L	NM_014815	NP_055630	O75448	MED24_HUMAN			21	2716	-	Colorectal(19;0.000442)		801					A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	ENST00000394128.2	37	c.2403C>G	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	G	9.298	1.052243	0.19827	.	.	ENSG00000008838	ENST00000422942	.	.	.	5.39	4.4	0.53042	.	.	.	.	.	T	0.58090	0.2098	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55483	-0.8134	4	.	.	.	-21.7831	7.5946	0.28041	0.1444:0.2422:0.6133:0.0	.	.	.	.	D	56	.	.	H	-	1	0	MED24	35432453	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.853000	0.39358	1.242000	0.43836	0.655000	0.94253	CAT		0.617	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2		NM_014815		14	24	0	0	0	0.007413	0	14	24		
TOP2A	7153	broad.mit.edu	37	17	38563833	38563833	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:38563833G>A	ENST00000423485.1	-	13	1752	c.1594C>T	c.(1594-1596)Cgt>Tgt	p.R532C		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	532	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTCCCATAACGAAGCGTCTTC	0.294																																						uc002huq.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(1594-1596)CGT>TGT		DNA topoisomerase II, alpha isozyme	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						77.0	67.0	70.0					17																	38563833		1816	4079	5895	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38563833G>A		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1594C>T	17.37:g.38563833G>A	ENSP00000411532:p.Arg532Cys						p.R532C	NM_001067	NP_001058	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		13	1720	-		Breast(137;0.00328)	532					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.1594C>T	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	G	33	5.254521	0.95336	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.59224	0.28	5.82	5.82	0.92795	DNA topoisomerase, type IIA, subunit B/N-terminal, alpha-beta (1);DNA topoisomerase, type IIA, central (1);DNA topoisomerase, type IIA, subunit B/N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.87063	0.6084	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91725	0.5392	10	0.87932	D	0	.	20.0953	0.97838	0.0:0.0:1.0:0.0	.	532	P11388	TOP2A_HUMAN	C	532;612;555;568	ENSP00000411532:R532C	ENSP00000269577:R612C	R	-	1	0	TOP2A	35817359	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.623000	0.98386	2.767000	0.95098	0.655000	0.94253	CGT		0.294	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1				7	14	0	0	0	0.004482	0	7	14		
KRTAP9-8	83901	broad.mit.edu	37	17	39394331	39394331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:39394331C>T	ENST00000254072.6	+	1	35	c.28C>T	c.(28-30)Cag>Tag	p.Q10*		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	10	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCCTTGCTGTCAGCCTACGTG	0.592																																						uc002hwh.3		NaN																	0				ovary(1)	1						c.(28-30)CAG>TAG		keratin associated protein 9.8							151.0	189.0	177.0					17																	39394331		2101	4300	6401	SO:0001587	stop_gained	83901					keratin filament		g.chr17:39394331C>T	AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"""Keratin associated proteins"""	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.28C>T	17.37:g.39394331C>T	ENSP00000254072:p.Gln10*					KRTAP9-9_uc010wfq.1_Intron	p.Q10*	NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	62	+		Breast(137;0.000496)	10			1.|15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].			Nonsense_Mutation	SNP	ENST00000254072.6	37	c.28C>T	CCDS42334.1	.	.	.	.	.	.	.	.	.	.	.	12.73	2.026940	0.35797	.	.	ENSG00000187272	ENST00000254072	.	.	.	2.13	1.1	0.20463	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	4.6126	0.12409	0.2517:0.5013:0.2469:0.0	.	.	.	.	X	10	.	ENSP00000254072:Q10X	Q	+	1	0	KRTAP9-8	36647857	0.000000	0.05858	0.203000	0.23512	0.085000	0.17905	0.035000	0.13797	0.420000	0.25954	0.306000	0.20318	CAG		0.592	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257712.1				22	133	0	0	0	0.003954	0	22	133		
KLHL11	55175	broad.mit.edu	37	17	40021195	40021195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:40021195C>T	ENST00000319121.3	-	1	489	c.429G>A	c.(427-429)tgG>tgA	p.W143*	ACLY_ENST00000588779.1_5'Flank	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	143	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GCTCGGAGCTCCACTTGCGCA	0.677																																						uc002hyf.1		NaN																	0					0						c.(427-429)TGG>TGA		kelch-like 11 precursor							33.0	31.0	32.0					17																	40021195		2203	4296	6499	SO:0001587	stop_gained	55175					extracellular region		g.chr17:40021195C>T		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.429G>A	17.37:g.40021195C>T	ENSP00000314608:p.Trp143*						p.W143*	NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN			1	435	-		Breast(137;0.00156)	143			BTB.			Nonsense_Mutation	SNP	ENST00000319121.3	37	c.429G>A	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	c	37	6.518295	0.97633	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4848	17.8294	0.88676	0.0:1.0:0.0:0.0	.	.	.	.	X	143;6	.	ENSP00000314608:W143X	W	-	3	0	KLHL11	37274721	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.428000	0.80296	2.437000	0.82529	0.645000	0.84053	TGG		0.677	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2		NM_018143		23	40	0	0	0	0.005443	0	23	40		
BRCA1	672	broad.mit.edu	37	17	41246522	41246522	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:41246522C>G	ENST00000357654.3	-	10	1144	c.1026G>C	c.(1024-1026)ctG>ctC	p.L342L	BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000493795.1_Silent_p.L295L|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000354071.3_Silent_p.L342L|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Silent_p.L46L|BRCA1_ENST00000471181.2_Silent_p.L342L|BRCA1_ENST00000346315.3_Silent_p.L342L|BRCA1_ENST00000351666.3_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	342					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GATCAGCATTCAGATCTACCT	0.438			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2		NaN	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		0				ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(1024-1026)CTG>CTC	Homologous_recombination	breast cancer 1, early onset isoform 1							216.0	201.0	206.0					17																	41246522		2203	4300	6503	SO:0001819	synonymous_variant	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41246522C>G	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1026G>C	17.37:g.41246522C>G		TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Silent_p.L271L|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Silent_p.L295L|BRCA1_uc002ict.2_Silent_p.L342L|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Silent_p.L342L|BRCA1_uc002ide.1_Silent_p.L173L|BRCA1_uc010cyy.1_Silent_p.L342L|BRCA1_uc010whs.1_Silent_p.L342L|BRCA1_uc010cyz.2_Silent_p.L295L|BRCA1_uc010cza.2_Silent_p.L316L|BRCA1_uc010wht.1_Silent_p.L46L	p.L342L	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	1258	-		Breast(137;0.000717)	342					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	ENST00000357654.3	37	c.1026G>C	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.169350	0.00315	.	.	ENSG00000012048	ENST00000473961	.	.	.	4.73	3.75	0.43078	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.9968	0.06001	0.2545:0.5:0.1518:0.0937	.	.	.	.	S	208	.	.	X	-	2	2	BRCA1	38500048	0.000000	0.05858	0.009000	0.14445	0.083000	0.17756	0.502000	0.22594	1.324000	0.45282	0.655000	0.94253	TGA		0.438	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2		NM_007294		28	161	0	0	0	0.008361	0	28	161		
CCDC43	124808	broad.mit.edu	37	17	42759437	42759437	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:42759437G>C	ENST00000315286.8	-	3	370	c.362C>G	c.(361-363)tCa>tGa	p.S121*	C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000588210.1_Nonsense_Mutation_p.S121*|CCDC43_ENST00000457422.2_Nonsense_Mutation_p.S121*	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	121										lung(2)	2		Prostate(33;0.0322)				CTCCTCTTCTGACACCATCCT	0.498																																						uc002ihc.2		NaN																	0					0						c.(361-363)TCA>TGA		coiled-coil domain containing 43 isoform 1							193.0	182.0	186.0					17																	42759437		2023	4187	6210	SO:0001587	stop_gained	124808							g.chr17:42759437G>C	AK056357	CCDS45704.1, CCDS45705.1	17q21.31	2005-12-16							26472	protein-coding gene	gene with protein product						12477932	Standard	NM_001099225		Approved	FLJ31795	uc002ihc.2	Q96MW1		ENST00000315286.8:c.362C>G	17.37:g.42759437G>C	ENSP00000323782:p.Ser121*					CCDC43_uc010czw.1_Nonsense_Mutation_p.S121*	p.S121*	NM_144609	NP_653210	Q96MW1	CCD43_HUMAN			3	406	-		Prostate(33;0.0322)	121			Potential.		C9JVK9	Nonsense_Mutation	SNP	ENST00000315286.8	37	c.362C>G	CCDS45704.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835811	0.91117	.	.	ENSG00000180329	ENST00000315286;ENST00000457422	.	.	.	6.06	5.04	0.67666	.	0.123853	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.9125	16.5186	0.84307	0.0:0.1307:0.8693:0.0	.	.	.	.	X	121	.	ENSP00000323782:S121X	S	-	2	0	CCDC43	40114963	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.995000	0.76257	2.871000	0.98454	0.655000	0.94253	TCA		0.498	CCDC43-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457812.1		NM_144609		24	103	0	0	0	0.00333	0	24	103		
LRRC37A2	474170	broad.mit.edu	37	17	44630810	44630810	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:44630810C>T	ENST00000576629.1	+	12	5349	c.4854C>T	c.(4852-4854)ttC>ttT	p.F1618F	ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000329240.4_Intron|LRRC37A2_ENST00000333412.3_Silent_p.F1618F|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000573185.1_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1618						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		AAGAAGGATTCTCAAGGTAAA	0.398																																						uc002ikn.1		NaN																	0					0						c.(4852-4854)TTC>TTT		c114 SLIT-like testicular protein precursor							50.0	91.0	77.0					17																	44630810		2198	4296	6494	SO:0001819	synonymous_variant	474170					integral to membrane		g.chr17:44630810C>T	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.4854C>T	17.37:g.44630810C>T						ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Silent_p.F579F|ARL17A_uc002iks.2_3'UTR	p.F1618F	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.232)	11	4857	+		Melanoma(429;0.211)	1618			Cytoplasmic (Potential).		B7ZMC3	Silent	SNP	ENST00000576629.1	37	c.4854C>T	CCDS42353.1																																																																																				0.398	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2		NM_001006607		21	155	0	0	0	0.00632	0	21	155		
MYCBPAP	84073	broad.mit.edu	37	17	48596430	48596430	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:48596430C>A	ENST00000323776.5	+	6	1039	c.877C>A	c.(877-879)Cca>Aca	p.P293T	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.P256T	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CTGCACACTTCCAACCCGGCG	0.617																																						uc010wmr.1		NaN																	0				urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6						c.(877-879)CCA>ACA		Myc-binding protein-associated protein							66.0	62.0	63.0					17																	48596430		2203	4300	6503	SO:0001583	missense	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48596430C>A	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.877C>A	17.37:g.48596430C>A	ENSP00000323184:p.Pro293Thr					MYCBPAP_uc002iqx.2_Missense_Mutation_p.P293T|MYCBPAP_uc002iqz.2_RNA	p.P293T	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		6	1039	+	Breast(11;1.23e-18)		256						Missense_Mutation	SNP	ENST00000323776.5	37	c.877C>A	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099649	0.56183	.	.	ENSG00000136449	ENST00000323776;ENST00000452039;ENST00000436259	T;T;T	0.57273	0.41;0.41;0.41	5.65	1.25	0.21368	.	0.364262	0.31358	N	0.007800	T	0.62097	0.2400	M	0.78049	2.395	0.09310	N	1	D;D	0.58620	0.983;0.983	P;P	0.56865	0.808;0.808	T	0.53662	-0.8407	10	0.56958	D	0.05	-2.3769	7.6358	0.28266	0.0:0.6941:0.1211:0.1848	.	256;293	Q8TBZ2;B4DZQ1	MYBPP_HUMAN;.	T	293;308;256	ENSP00000323184:P293T;ENSP00000407145:P308T;ENSP00000397209:P256T	ENSP00000323184:P293T	P	+	1	0	MYCBPAP	45951429	0.063000	0.20901	0.002000	0.10522	0.028000	0.11728	0.586000	0.23894	0.437000	0.26423	0.563000	0.77884	CCA		0.617	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1		NM_032133		5	52	1	0	0.00198382	0.001984	0.00204039	5	52		
ACE	1636	broad.mit.edu	37	17	61564428	61564428	+	Missense_Mutation	SNP	G	G	C	rs148995315	byFrequency	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:61564428G>C	ENST00000290866.4	+	15	2323	c.2299G>C	c.(2299-2301)Gag>Cag	p.E767Q	ACE_ENST00000577647.1_Missense_Mutation_p.E193Q|ACE_ENST00000421982.2_Missense_Mutation_p.E77Q|ACE_ENST00000413513.3_Missense_Mutation_p.E193Q|ACE_ENST00000428043.1_Missense_Mutation_p.E767Q|ACE_ENST00000290863.6_Missense_Mutation_p.E193Q|ACE_ENST00000490216.2_Missense_Mutation_p.E193Q	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	767	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCTGCAGCTCGAGCCAGGTGA	0.617																																						uc002jau.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2299-2301)GAG>CAG		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						57.0	53.0	54.0					17																	61564428		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61564428G>C	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2299G>C	17.37:g.61564428G>C	ENSP00000290866:p.Glu767Gln					ACE_uc002jav.1_Missense_Mutation_p.E193Q|ACE_uc010ddv.1_5'UTR|ACE_uc010wpj.1_Missense_Mutation_p.E193Q|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.E77Q	p.E767Q	NM_000789	NP_000780	P12821	ACE_HUMAN			15	2321	+			767			Extracellular (Potential).|Peptidase M2 2.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.2299G>C	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845732	0.51164	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.28	5.71	5.71	0.89125	.	0.151832	0.64402	D	0.000020	T	0.58250	0.2109	M	0.72624	2.21	0.40137	D	0.976783	P;D;P;D	0.71674	0.6;0.958;0.832;0.998	B;P;B;D	0.66196	0.234;0.849;0.298;0.942	T	0.61598	-0.7030	10	0.72032	D	0.01	-39.8484	15.3576	0.74440	0.0:0.0:1.0:0.0	.	77;193;193;767	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	Q	767;767;193;193;77	ENSP00000290866:E767Q;ENSP00000397593:E767Q;ENSP00000290863:E193Q;ENSP00000392247:E193Q;ENSP00000387760:E77Q	ENSP00000290863:E193Q	E	+	1	0	ACE	58918160	1.000000	0.71417	0.997000	0.53966	0.754000	0.42855	6.754000	0.74909	2.698000	0.92095	0.561000	0.74099	GAG		0.617	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2				20	42	0	0	0	0.008871	0	20	42		
DDX5	1655	broad.mit.edu	37	17	62499953	62499953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:62499953G>A	ENST00000225792.5	-	5	876	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000450599.2_Intron|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Nonsense_Mutation_p.Q159*|DDX5_ENST00000580026.1_5'Flank|CEP95_ENST00000556440.2_5'Flank	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	159	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AGGAATGGCTGATGATTGATG	0.333			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	uc002jek.2		NaN		Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				ovary(2)|lung(1)	3						c.(475-477)CAG>TAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 5							87.0	88.0	88.0					17																	62499953		2203	4300	6503	SO:0001587	stop_gained	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62499953G>A	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.475C>T	17.37:g.62499953G>A	ENSP00000225792:p.Gln159*					DDX5_uc010deh.2_Nonsense_Mutation_p.Q159*|DDX5_uc002jej.2_Nonsense_Mutation_p.Q54*|DDX5_uc010wqa.1_Intron|DDX5_uc002jel.1_5'Flank	p.Q159*	NM_004396	NP_004387	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		5	722	-	Breast(5;2.15e-14)		159			Helicase ATP-binding.		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Nonsense_Mutation	SNP	ENST00000225792.5	37	c.475C>T	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	G	37	6.155282	0.97329	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.63	5.63	0.86233	.	0.116646	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-6.9314	19.7096	0.96089	0.0:0.0:1.0:0.0	.	.	.	.	X	159;89;148	.	ENSP00000225792:Q148X	Q	-	1	0	DDX5	59930415	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.293000	0.78740	2.652000	0.90054	0.655000	0.94253	CAG		0.333	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1		NM_004396		13	64	0	0	0	0.00499	0	13	64		
ABCA5	23461	broad.mit.edu	37	17	67273900	67273900	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:67273900G>C	ENST00000392676.3	-	19	2540	c.2476C>G	c.(2476-2478)Ctt>Gtt	p.L826V	ABCA5_ENST00000588877.1_Missense_Mutation_p.L826V|ABCA5_ENST00000392677.2_Missense_Mutation_p.L826V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	826					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GTTTCAGAAAGAATAAGTAAG	0.363																																						uc002jif.2		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2476-2478)CTT>GTT		ATP-binding cassette, sub-family A , member 5							86.0	82.0	83.0					17																	67273900		2202	4298	6500	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67273900G>C	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.2476C>G	17.37:g.67273900G>C	ENSP00000376443:p.Leu826Val					ABCA5_uc002jic.2_Missense_Mutation_p.L49V|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.L826V|ABCA5_uc002jih.2_Missense_Mutation_p.L826V|ABCA5_uc010dfe.2_Missense_Mutation_p.L826V	p.L826V	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN			18	3694	-	Breast(10;3.72e-11)		826					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.2476C>G	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455363	0.63401	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.86769	-2.17;-2.17	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000015	D	0.90703	0.7083	L	0.60455	1.87	0.42024	D	0.990994	D;D	0.61080	0.989;0.981	P;P	0.61477	0.889;0.777	D	0.89739	0.3932	9	.	.	.	.	14.6243	0.68611	0.0:0.1458:0.8542:0.0	.	826;826	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	V	826	ENSP00000376444:L826V;ENSP00000376443:L826V	.	L	-	1	0	ABCA5	64785495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.578000	0.60929	2.861000	0.98227	0.655000	0.94253	CTT		0.363	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1		NM_018672		13	23	0	0	0	0.003163	0	13	23		
DNAI2	64446	broad.mit.edu	37	17	72281227	72281227	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:72281227G>C	ENST00000311014.6	+	3	299	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	DNAI2_ENST00000446837.2_Missense_Mutation_p.E78Q|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000582036.1_Missense_Mutation_p.E78Q|DNAI2_ENST00000579490.1_Missense_Mutation_p.E135Q			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	78					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TAACCATGTCGAGGGGGGCTG	0.562									Kartagener syndrome																													uc002jkf.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(232-234)GAG>CAG		dynein, axonemal, intermediate polypeptide 2							76.0	74.0	74.0					17																	72281227		2203	4300	6503	SO:0001583	missense	64446	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72281227G>C	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.232G>C	17.37:g.72281227G>C	ENSP00000308312:p.Glu78Gln					DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA	p.E78Q	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			3	331	+			78					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.232G>C	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890596	0.91889	.	.	ENSG00000171595	ENST00000311014;ENST00000446837	T;T	0.16743	2.32;2.32	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.45478	0.1344	M	0.87097	2.86	0.80722	D	1	D	0.71674	0.998	P	0.60415	0.874	T	0.53215	-0.8470	10	0.56958	D	0.05	-46.3224	18.396	0.90499	0.0:0.0:1.0:0.0	.	78	Q9GZS0	DNAI2_HUMAN	Q	78	ENSP00000308312:E78Q;ENSP00000400252:E78Q	ENSP00000308312:E78Q	E	+	1	0	DNAI2	69792822	1.000000	0.71417	0.956000	0.39512	0.965000	0.64279	9.058000	0.93896	2.571000	0.86741	0.556000	0.70494	GAG		0.562	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1		NM_023036		5	68	0	0	0	0.00308	0	5	68		
EVPL	2125	broad.mit.edu	37	17	74015086	74015086	+	Missense_Mutation	SNP	C	C	T	rs201678162		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr17:74015086C>T	ENST00000301607.3	-	11	1446	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q	EVPL_ENST00000586740.1_Missense_Mutation_p.R398Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	398	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						ATCCCGGCTTCGCCGCTGCAG	0.672																																						uc002jqi.2		NaN																	0				pancreas(2)|central_nervous_system(1)|skin(1)	4						c.(1192-1194)CGA>CAA		envoplakin		C	GLN/ARG	0,4402		0,0,2201	17.0	19.0	18.0		1193	-4.5	0.0	17		18	1,8597		0,1,4298	yes	missense	EVPL	NM_001988.2	43	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	398/2034	74015086	1,12999	2201	4299	6500	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74015086C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1193G>A	17.37:g.74015086C>T	ENSP00000301607:p.Arg398Gln					EVPL_uc010wss.1_Missense_Mutation_p.R398Q|EVPL_uc010wst.1_5'UTR	p.R398Q	NM_001988	NP_001979	Q92817	EVPL_HUMAN			11	1421	-			398			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.1193G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461988	0.26248	0.0	1.16E-4	ENSG00000167880	ENST00000301607	T	0.69685	-0.42	5.03	-4.47	0.03525	.	0.601694	0.16236	N	0.223365	T	0.49098	0.1537	L	0.47016	1.485	0.09310	N	1	B;B	0.27286	0.051;0.174	B;B	0.16289	0.013;0.015	T	0.29971	-0.9994	10	0.59425	D	0.04	-8.2166	6.6081	0.22735	0.1207:0.3504:0.0:0.5289	.	398;398	B7ZLH8;Q92817	.;EVPL_HUMAN	Q	398	ENSP00000301607:R398Q	ENSP00000301607:R398Q	R	-	2	0	EVPL	71526681	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-1.096000	0.03353	-1.051000	0.03226	-0.500000	0.04577	CGA		0.672	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1		NM_001988		5	9	0	0	0	0.001168	0	5	9		
THOC1	9984	broad.mit.edu	37	18	226868	226868	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr18:226868G>A	ENST00000261600.6	-	12	959	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	318					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				ATGTGTCGACGAAAGTTACTG	0.343																																						uc002kkj.3		NaN																	0				ovary(1)	1						c.(952-954)CGT>TGT		THO complex 1							83.0	76.0	78.0					18																	226868		1875	4108	5983	SO:0001583	missense	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:226868G>A	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.952C>T	18.37:g.226868G>A	ENSP00000261600:p.Arg318Cys					THOC1_uc002kkk.3_RNA|THOC1_uc002kkl.2_Missense_Mutation_p.R318C|THOC1_uc002kkh.3_5'Flank	p.R318C	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN			12	992	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	318					B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	c.952C>T	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171037	0.78452	.	.	ENSG00000079134	ENST00000261600	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.86892	0.6042	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89475	0.3746	9	0.87932	D	0	-4.0291	19.7096	0.96089	0.0:0.0:1.0:0.0	.	318;318	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	C	318	.	ENSP00000261600:R318C	R	-	1	0	THOC1	216868	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.605000	0.54088	2.652000	0.90054	0.655000	0.94253	CGT		0.343	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5		NM_005131		13	8	0	0	0	0.006122	0	13	8		
RIOK3	8780	broad.mit.edu	37	18	21044494	21044494	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr18:21044494C>G	ENST00000339486.3	+	5	1062	c.445C>G	c.(445-447)Ccc>Gcc	p.P149A	RIOK3_ENST00000577501.1_Missense_Mutation_p.P149A|RIOK3_ENST00000581585.1_Missense_Mutation_p.P133A	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	149					chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAACCGGTTCCCACTCCTAA	0.363																																						uc002kui.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(445-447)CCC>GCC		sudD suppressor of bimD6 homolog							72.0	71.0	71.0					18																	21044494		2203	4300	6503	SO:0001583	missense	8780				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr18:21044494C>G	AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.445C>G	18.37:g.21044494C>G	ENSP00000341874:p.Pro149Ala					RIOK3_uc010dls.2_Missense_Mutation_p.P149A|RIOK3_uc010xas.1_Missense_Mutation_p.P133A|RIOK3_uc010xat.1_5'Flank	p.P149A	NM_003831	NP_003822	O14730	RIOK3_HUMAN			5	1062	+	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)		149					Q8IXN9	Missense_Mutation	SNP	ENST00000339486.3	37	c.445C>G	CCDS11877.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767318	0.31320	.	.	ENSG00000101782	ENST00000339486	T	0.05925	3.37	6.07	6.07	0.98685	.	0.308479	0.40302	N	0.001123	T	0.05135	0.0137	N	0.16790	0.44	0.42244	D	0.991946	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.49818	-0.8899	10	0.21540	T	0.41	-0.2289	15.0037	0.71495	0.177:0.823:0.0:0.0	.	133;149;149	B4E1Q4;O14730-2;O14730	.;.;RIOK3_HUMAN	A	149	ENSP00000341874:P149A	ENSP00000341874:P149A	P	+	1	0	RIOK3	19298492	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.768000	0.38511	2.885000	0.99019	0.655000	0.94253	CCC		0.363	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1		NM_003831		35	24	0	0	0	0.004289	0	35	24		
EPG5	57724	broad.mit.edu	37	18	43496060	43496060	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr18:43496060G>A	ENST00000282041.5	-	19	3530	c.3496C>T	c.(3496-3498)Ctc>Ttc	p.L1166F	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1166					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATGAGGAAGAGGATAGGTTGT	0.468																																						uc002lbm.2		NaN																	0					0						c.(3496-3498)CTC>TTC		hypothetical protein LOC57724							71.0	68.0	68.0					18																	43496060		1935	4140	6075	SO:0001583	missense	57724				autophagy			g.chr18:43496060G>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3496C>T	18.37:g.43496060G>A	ENSP00000282041:p.Leu1166Phe					KIAA1632_uc002lbo.1_Missense_Mutation_p.L1166F|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.L41F	p.L1166F	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			19	3596	-			1166					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.3496C>T	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664975	0.88251	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.14391	2.51	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000001	T	0.38931	0.1059	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.02721	-1.1119	10	0.72032	D	0.01	-14.0803	20.3214	0.98679	0.0:0.0:1.0:0.0	.	1166;1166	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	F	1166;41	ENSP00000282041:L1166F	ENSP00000282041:L1166F	L	-	1	0	EPG5	41750058	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.507000	0.66999	2.804000	0.96469	0.655000	0.94253	CTC		0.468	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1		NM_020964		6	72	0	0	0	0.001984	0	6	72		
TCEB3B	51224	broad.mit.edu	37	18	44560549	44560549	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr18:44560549A>T	ENST00000332567.4	-	1	1439	c.1087T>A	c.(1087-1089)Tcc>Acc	p.S363T	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	363					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCAGAGAGGGAGCTCACGGAC	0.542																																						uc002lcr.1		NaN																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1087-1089)TCC>ACC		elongin A2							75.0	74.0	74.0					18																	44560549		2203	4300	6503	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560549A>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1087T>A	18.37:g.44560549A>T	ENSP00000331302:p.Ser363Thr					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.S363T	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	1440	-			363					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.1087T>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	A	8.715	0.912895	0.17907	.	.	ENSG00000206181	ENST00000332567	T	0.07800	3.16	1.95	0.684	0.18003	.	1.401660	0.05386	U	0.538089	T	0.05868	0.0153	L	0.27053	0.805	0.09310	N	1	B	0.14438	0.01	B	0.20767	0.031	T	0.44559	-0.9320	10	0.13108	T	0.6	.	3.9388	0.09318	0.8049:0.0:0.1951:0.0	.	363	Q8IYF1	ELOA2_HUMAN	T	363	ENSP00000331302:S363T	ENSP00000331302:S363T	S	-	1	0	TCEB3B	42814547	0.002000	0.14202	0.003000	0.11579	0.110000	0.19582	0.946000	0.29069	0.194000	0.20326	0.379000	0.24179	TCC		0.542	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1		NM_016427		9	88	0	0	0	0.006214	0	9	88		
ATP8B3	148229	broad.mit.edu	37	19	1783250	1783250	+	Missense_Mutation	SNP	C	C	T	rs200055945	byFrequency	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:1783250C>T	ENST00000310127.6	-	29	3918	c.3680G>A	c.(3679-3681)gGc>gAc	p.G1227D	ATP8B3_ENST00000525591.1_Missense_Mutation_p.G1190D|ATP8B3_ENST00000539485.1_Missense_Mutation_p.G1237D	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1227					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGCTGGGGCCCTCCTCCAC	0.592													.|||	3	0.000599042	0.0023	0.0	5008	,	,		16802	0.0		0.0	False		,,,				2504	0.0					uc002ltw.2		NaN																	0					0						c.(3679-3681)GGC>GAC		ATPase, class I, type 8B, member 3		C	ASP/GLY,ASP/GLY	2,4010		0,2,2004	23.0	25.0	24.0		3569,3680	-6.5	0.0	19		24	0,8256		0,0,4128	yes	missense,missense	ATP8B3	NM_001178002.1,NM_138813.2	94,94	0,2,6132	TT,TC,CC		0.0,0.0499,0.0163	possibly-damaging,possibly-damaging	1190/1264,1227/1301	1783250	2,12266	2006	4128	6134	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1783250C>T	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3680G>A	19.37:g.1783250C>T	ENSP00000311336:p.Gly1227Asp					ATP8B3_uc002ltv.2_Missense_Mutation_p.G1190D|ATP8B3_uc002ltx.2_RNA	p.G1227D	NM_138813	NP_620168	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	29	3914	-		Hepatocellular(1079;0.137)	1227			Cytoplasmic (Potential).		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.3680G>A	CCDS45901.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	3.432	-0.115900	0.06881	4.99E-4	0.0	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.37235	1.21;1.21;1.21	4.06	-6.54	0.01860	.	0.475254	0.17945	U	0.156708	T	0.16300	0.0392	L	0.43152	1.355	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32771	-0.9894	10	0.11485	T	0.65	.	0.8246	0.01118	0.3864:0.2443:0.2069:0.1624	.	1227;1190	O60423;Q7Z485	AT8B3_HUMAN;.	D	1227;1237;1190	ENSP00000311336:G1227D;ENSP00000443574:G1237D;ENSP00000437115:G1190D	ENSP00000311336:G1227D	G	-	2	0	ATP8B3	1734250	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.363000	0.00497	-0.625000	0.05604	-0.333000	0.08304	GGC		0.592	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1		NM_138813		3	5	0	0	0	0.009096	0	3	5		
CATSPERD	257062	broad.mit.edu	37	19	5745953	5745953	+	Silent	SNP	C	C	A	rs368212653		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:5745953C>A	ENST00000381624.3	+	9	748	c.687C>A	c.(685-687)ctC>ctA	p.L229L	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	229					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											ATCACCCCCTCAACCGGAGTT	0.537																																						uc002mda.2		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(685-687)CTC>CTA		transmembrane protein 146 precursor							167.0	160.0	163.0					19																	5745953		1893	4116	6009	SO:0001819	synonymous_variant	257062					integral to membrane		g.chr19:5745953C>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.687C>A	19.37:g.5745953C>A						TMEM146_uc010duj.1_5'UTR	p.L229L	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			9	748	+			229			Extracellular (Potential).		Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.687C>A	CCDS12149.2																																																																																				0.537	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2		NM_152784		83	147	1	0	3.16549e-35	0.01441	3.43192e-35	83	147		
FUT3	2525	broad.mit.edu	37	19	5844334	5844334	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:5844334C>T	ENST00000303225.6	-	3	1151	c.517G>A	c.(517-519)Gag>Aag	p.E173K	FUT3_ENST00000589918.1_Missense_Mutation_p.E173K|FUT3_ENST00000589620.1_Missense_Mutation_p.E173K|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000458379.2_Missense_Mutation_p.E173K	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	173					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GACCACGGCTCCAGCCAGCCG	0.647																																					Esophageal Squamous(82;745 1728 24593 44831)	uc002mdk.2		NaN																	0					0						c.(517-519)GAG>AAG		fucosyltransferase 3							22.0	23.0	23.0					19																	5844334		2186	4262	6448	SO:0001583	missense	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844334C>T		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.517G>A	19.37:g.5844334C>T	ENSP00000305603:p.Glu173Lys					FUT3_uc002mdm.2_Missense_Mutation_p.E173K|FUT3_uc002mdj.2_Missense_Mutation_p.E173K|FUT3_uc002mdl.2_Missense_Mutation_p.E173K	p.E173K	NM_001097641	NP_001091110	P21217	FUT3_HUMAN			2	614	-			173			Lumenal (Potential).		B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	c.517G>A	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	C	8.298	0.819234	0.16607	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.25912	1.77;1.77	2.14	2.14	0.27477	.	0.447307	0.20349	N	0.094100	T	0.20495	0.0493	L	0.56340	1.77	0.27353	N	0.956174	B;B;B;B	0.19073	0.033;0.006;0.014;0.006	B;B;B;B	0.32724	0.151;0.043;0.062;0.043	T	0.32348	-0.9910	10	0.07030	T	0.85	.	5.2957	0.15751	0.0:0.8085:0.0:0.1915	.	173;173;173;173	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	K	173	ENSP00000305603:E173K;ENSP00000416443:E173K	ENSP00000305603:E173K	E	-	1	0	FUT3	5795334	0.000000	0.05858	0.922000	0.36590	0.108000	0.19459	0.400000	0.20932	1.114000	0.41781	0.195000	0.17529	GAG		0.647	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1		NM_000149		14	28	0	0	0	0.007413	0	14	28		
RANBP3	8498	broad.mit.edu	37	19	5941640	5941640	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:5941640G>C	ENST00000340578.6	-	5	455	c.398C>G	c.(397-399)tCa>tGa	p.S133*	RANBP3_ENST00000591124.1_5'UTR|RANBP3_ENST00000591092.1_Nonsense_Mutation_p.S65*|RANBP3_ENST00000034275.8_Nonsense_Mutation_p.S65*|RANBP3_ENST00000439268.2_Nonsense_Mutation_p.S133*|RANBP3_ENST00000541471.1_Intron	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	133					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						ACCTGACTGTGAGGGTGGGAA	0.468																																						uc002mdw.2		NaN																	0				breast(1)	1						c.(397-399)TCA>TGA		RAN binding protein 3 isoform RANBP3-d							174.0	167.0	170.0					19																	5941640		2004	4166	6170	SO:0001587	stop_gained	8498				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding	g.chr19:5941640G>C	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.398C>G	19.37:g.5941640G>C	ENSP00000341483:p.Ser133*					RANBP3_uc002mdx.2_Nonsense_Mutation_p.S133*|RANBP3_uc002mdy.2_Nonsense_Mutation_p.S65*|RANBP3_uc002mdz.2_Nonsense_Mutation_p.S65*|RANBP3_uc010duq.2_5'UTR|RANBP3_uc002mea.2_Intron|RANBP3_uc010xix.1_Intron	p.S133*	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN			5	625	-			133					B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Nonsense_Mutation	SNP	ENST00000340578.6	37	c.398C>G	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	G	38	7.249381	0.98164	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807	.	.	.	4.89	4.89	0.63831	.	0.495409	0.23036	N	0.052675	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-1.3359	15.5697	0.76323	0.0:0.0:1.0:0.0	.	.	.	.	X	133;133;65;64	.	ENSP00000034275:S65X	S	-	2	0	RANBP3	5892640	1.000000	0.71417	0.058000	0.19502	0.564000	0.35744	7.973000	0.88032	2.266000	0.75297	0.655000	0.94253	TCA		0.468	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1		NM_007322		37	57	0	0	0	0.01441	0	37	57		
GTF2F1	2962	broad.mit.edu	37	19	6389529	6389529	+	Silent	SNP	G	G	A	rs201169675	byFrequency	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:6389529G>A	ENST00000394456.5	-	4	716	c.252C>T	c.(250-252)taC>taT	p.Y84Y	GTF2F1_ENST00000429701.2_Silent_p.Y56Y|CTB-180A7.6_ENST00000599584.1_RNA	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	84					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|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 viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GGACGATGCCGTACTTCTTCC	0.617													G|||	2	0.000399361	0.0015	0.0	5008	,	,		13272	0.0		0.0	False		,,,				2504	0.0					uc002meq.2		NaN																	0					0						c.(250-252)TAC>TAT		general transcription factor IIF, polypeptide 1,							130.0	128.0	129.0					19																	6389529		2203	4300	6503	SO:0001819	synonymous_variant	2962				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding	g.chr19:6389529G>A		CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.252C>T	19.37:g.6389529G>A						GTF2F1_uc010xjb.1_5'Flank|GTF2F1_uc010xjc.1_Silent_p.Y56Y	p.Y84Y	NM_002096	NP_002087	P35269	T2FA_HUMAN			4	537	-			84					B2RCS0|Q9BWN0	Silent	SNP	ENST00000394456.5	37	c.252C>T	CCDS12165.1																																																																																				0.617	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1		NM_002096		5	207	0	0	0	0.014758	0	5	207		
SNAPC2	6618	broad.mit.edu	37	19	7987050	7987050	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:7987050C>T	ENST00000221573.6	+	4	554	c.503C>T	c.(502-504)cCt>cTt	p.P168L	SNAPC2_ENST00000595035.1_3'UTR|SNAPC2_ENST00000597584.1_5'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	168					gene expression (GO:0010467)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCTGAAATACCTAGCTCTGCC	0.642																																						uc002miw.1		NaN																	0					0						c.(502-504)CCT>CTT		small nuclear RNA activating complex,							90.0	96.0	94.0					19																	7987050		2203	4300	6503	SO:0001583	missense	6618				snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr19:7987050C>T	U44898	CCDS12190.1	19p13	2008-07-22	2002-08-29			ENSG00000104976			11135	protein-coding gene	gene with protein product		605076	"""small nuclear RNA activating complex, polypeptide 2, 45kD"""			8633057	Standard	NM_003083		Approved	SNAP45, PTFdelta	uc002miw.2	Q13487		ENST00000221573.6:c.503C>T	19.37:g.7987050C>T	ENSP00000221573:p.Pro168Leu					SNAPC2_uc002mix.1_RNA	p.P168L	NM_003083	NP_003074	Q13487	SNPC2_HUMAN			4	526	+			168					B2RBZ6|D6W663|Q13486	Missense_Mutation	SNP	ENST00000221573.6	37	c.503C>T	CCDS12190.1	.	.	.	.	.	.	.	.	.	.	c	16.48	3.136349	0.56936	.	.	ENSG00000104976	ENST00000221573	T	0.44482	0.92	3.67	3.67	0.42095	.	0.802151	0.10413	U	0.677701	T	0.48822	0.1521	L	0.54323	1.7	0.09310	N	0.999999	P	0.42078	0.77	P	0.48598	0.583	T	0.39272	-0.9622	10	0.66056	D	0.02	-0.8451	10.7489	0.46198	0.0:1.0:0.0:0.0	.	168	Q13487	SNPC2_HUMAN	L	168	ENSP00000221573:P168L	ENSP00000221573:P168L	P	+	2	0	SNAPC2	7893050	0.002000	0.14202	0.006000	0.13384	0.015000	0.08874	0.495000	0.22483	1.866000	0.54105	0.450000	0.29827	CCT		0.642	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1		NM_003083		10	89	0	0	0	0.013537	0	10	89		
TIMM44	10469	broad.mit.edu	37	19	7992547	7992547	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:7992547C>T	ENST00000270538.3	-	12	1502	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	CTD-3193O13.8_ENST00000594308.1_RNA|CTXN1_ENST00000318978.4_5'Flank|TIMM44_ENST00000598968.1_5'UTR	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	412					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CTCACCGGGTCACCCTCCACC	0.632																																						uc002miz.2		NaN																	0				ovary(1)	1						c.(1234-1236)GAC>AAC		translocase of inner mitochondrial membrane 44							155.0	120.0	132.0					19																	7992547		2203	4300	6503	SO:0001583	missense	10469				protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr19:7992547C>T	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.1234G>A	19.37:g.7992547C>T	ENSP00000270538:p.Asp412Asn					TIMM44_uc002mja.2_Missense_Mutation_p.D152N|CTXN1_uc002miy.3_5'Flank	p.D412N	NM_006351	NP_006342	O43615	TIM44_HUMAN			12	1236	-			412					A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	ENST00000270538.3	37	c.1234G>A	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129096	0.37533	.	.	ENSG00000104980	ENST00000270538	T	0.79352	-1.26	5.06	2.94	0.34122	.	0.143287	0.64402	N	0.000008	T	0.74794	0.3763	M	0.79475	2.455	0.80722	D	1	B	0.09022	0.002	B	0.15870	0.014	T	0.68002	-0.5524	10	0.33940	T	0.23	-27.2745	9.6483	0.39881	0.0:0.829:0.0:0.171	.	412	O43615	TIM44_HUMAN	N	412	ENSP00000270538:D412N	ENSP00000270538:D412N	D	-	1	0	TIMM44	7898547	1.000000	0.71417	0.932000	0.37286	0.169000	0.22640	3.466000	0.53071	0.544000	0.28883	-0.224000	0.12420	GAC		0.632	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3				20	157	0	0	0	0.004656	0	20	157		
MUC16	94025	broad.mit.edu	37	19	9001862	9001862	+	Silent	SNP	C	C	G	rs372905031		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:9001862C>G	ENST00000397910.4	-	53	40589	c.40386G>C	c.(40384-40386)tcG>tcC	p.S13462S	MUC16_ENST00000380951.5_Silent_p.S103S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13464					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						CTGGAGTTCTCGAGGTTGCCA	0.493																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(40384-40386)TCG>TCC		mucin 16							94.0	91.0	92.0					19																	9001862		2011	4176	6187	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9001862C>G	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.40386G>C	19.37:g.9001862C>G						MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.S279S|MUC16_uc010xki.1_RNA	p.S13462S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			53	40590	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.40386G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	2.548	-0.304705	0.05495	.	.	ENSG00000181143	ENST00000542240	.	.	.	1.04	-2.08	0.07254	.	.	.	.	.	T	0.27384	0.0672	.	.	.	.	.	.	.	.	.	.	.	.	T	0.25745	-1.0123	3	.	.	.	.	3.6095	0.08055	0.3238:0.4747:0.2015:0.0	.	.	.	.	P	302	.	.	R	-	2	0	MUC16	8862862	0.000000	0.05858	0.000000	0.03702	0.285000	0.27093	-0.626000	0.05527	-1.983000	0.00987	-1.061000	0.02294	CGA		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		5	15	0	0	0	0.010729	0	5	15		
ZNF136	7695	broad.mit.edu	37	19	12296680	12296680	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:12296680C>G	ENST00000343979.4	+	2	224	c.84C>G	c.(82-84)ctC>ctG	p.L28L	ZNF136_ENST00000398616.2_Intron	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	28	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						AGAAGAATCTCTACAGAGATG	0.443																																						uc002mti.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(82-84)CTC>CTG		zinc finger protein 136							89.0	83.0	85.0					19																	12296680		2203	4300	6503	SO:0001819	synonymous_variant	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12296680C>G	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.84C>G	19.37:g.12296680C>G						ZNF136_uc010xmh.1_Intron	p.L28L	NM_003437	NP_003428	P52737	ZN136_HUMAN			2	184	+			28			KRAB.			Silent	SNP	ENST00000343979.4	37	c.84C>G	CCDS32916.1																																																																																				0.443	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2		NM_003437		23	41	0	0	0	0.007291	0	23	41		
PRDX2	7001	broad.mit.edu	37	19	12911834	12911834	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:12911834G>A	ENST00000301522.2	-	3	281	c.153C>T	c.(151-153)tgC>tgT	p.C51C	PRDX2_ENST00000334482.5_Silent_p.C51C|CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000435703.1_Silent_p.C51C	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	51	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of apoptotic process (GO:0042981)|removal of superoxide radicals (GO:0019430)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TCTCGGTGGGGCACACAAAAG	0.587																																						uc002mvd.2		NaN																	0					0						c.(151-153)TGC>TGT		peroxiredoxin 2 isoform a							52.0	48.0	49.0					19																	12911834		2203	4300	6503	SO:0001819	synonymous_variant	7001				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity	g.chr19:12911834G>A		CCDS12281.1	19p13.2	2008-07-17			ENSG00000167815	ENSG00000167815			9353	protein-coding gene	gene with protein product	"""thioredoxin-dependent peroxide reductase 1"", ""thiol-specific antioxidant 1"", ""natural killer-enhancing factor B"", ""thioredoxin peroxidase 1"", ""torin"""	600538		TDPX1		7607688	Standard	NM_005809		Approved	PRP, NKEFB, TSA, PRXII, PRX2, MGC4104	uc002mvd.4	P32119	OTTHUMG00000134285	ENST00000301522.2:c.153C>T	19.37:g.12911834G>A						PRDX2_uc002mve.1_Silent_p.C51C	p.C51C	NM_005809	NP_005800	P32119	PRDX2_HUMAN			3	303	-			51			Thioredoxin.	Cysteine sulfenic acid (-SOH) intermediate.	A8K0C0|P31945|P32118|P35701|Q6FHG4|Q92763|Q9UC23	Silent	SNP	ENST00000301522.2	37	c.153C>T	CCDS12281.1																																																																																				0.587	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258950.2		NM_005809		6	31	0	0	0	0.001984	0	6	31		
CACNA1A	773	broad.mit.edu	37	19	13340984	13340984	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:13340984C>G	ENST00000360228.5	-	36	5439	c.5440G>C	c.(5440-5442)Gag>Cag	p.E1814Q	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Missense_Mutation_p.E1815Q	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1815					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGAGGTACTCAAAGTTGTCC	0.577																																						uc010dze.2		NaN																	0				large_intestine(2)	2						c.(5443-5445)GAG>CAG		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						86.0	95.0	93.0					19																	13340984		2095	4254	6349	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13340984C>G	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5440G>C	19.37:g.13340984C>G	ENSP00000353362:p.Glu1814Gln					CACNA1A_uc010xnd.1_Missense_Mutation_p.E520Q|CACNA1A_uc002mwx.3_Missense_Mutation_p.E520Q|CACNA1A_uc010dzc.2_Missense_Mutation_p.E1340Q|CACNA1A_uc002mwy.3_Missense_Mutation_p.E1814Q|CACNA1A_uc002mwv.3_Missense_Mutation_p.E331Q	p.E1815Q	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		36	5679	-			1815			Cytoplasmic (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5443G>C	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524438	0.64747	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.97161	-4.27	4.33	4.33	0.51752	.	0.000000	0.64402	D	0.000001	D	0.98308	0.9439	M	0.84326	2.69	0.58432	D	0.999994	P;D;D;D	0.89917	0.929;1.0;0.993;0.999	P;D;D;D	0.77557	0.741;0.99;0.979;0.978	D	0.98903	1.0777	10	0.52906	T	0.07	.	15.5941	0.76566	0.0:1.0:0.0:0.0	.	1815;1820;1814;1815	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	Q	1814;1820;1815;1815	ENSP00000353362:E1814Q	ENSP00000317661:E1815Q	E	-	1	0	CACNA1A	13201984	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.736000	0.84948	1.968000	0.57251	0.549000	0.68633	GAG		0.577	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2		NM_000068		4	34	0	0	0	0.001168	0	4	34		
CYP4F8	11283	broad.mit.edu	37	19	15734173	15734173	+	RNA	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:15734173C>T	ENST00000441682.2	+	0	967							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TTGATGTGCTCCTGCTGAGCG	0.537																																						uc002nbi.2		NaN																	0				large_intestine(1)	1						c.(904-906)CTC>CTT		cytochrome P450, family 4, subfamily F,							58.0	56.0	57.0					19																	15734173		2203	4300	6503			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15734173C>T	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15734173C>T						CYP4F8_uc010xoj.1_Silent_p.L114L	p.L302L	NM_007253	NP_009184	P98187	CP4F8_HUMAN			9	970	+			302						Silent	SNP	ENST00000441682.2	37	c.906C>T																																																																																					0.537	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript			NM_007253		12	34	0	0	0	0.003163	0	12	34		
CYP4F2	8529	broad.mit.edu	37	19	16001219	16001219	+	Missense_Mutation	SNP	C	C	G	rs368316019		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:16001219C>G	ENST00000221700.6	-	6	645	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	CYP4F2_ENST00000011989.7_Missense_Mutation_p.E35Q	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCACTACCCTCTGAGGCCAGG	0.542																																						uc002nbs.1		NaN																	0				ovary(1)|skin(1)	2						c.(550-552)GAG>CAG		cytochrome P450, family 4, subfamily F,							81.0	79.0	80.0					19																	16001219		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16001219C>G	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.550G>C	19.37:g.16001219C>G	ENSP00000221700:p.Glu184Gln					CYP4F2_uc010xot.1_Missense_Mutation_p.E35Q|CYP4F2_uc010xou.1_Missense_Mutation_p.E35Q	p.E184Q	NM_001082	NP_001073	P78329	CP4F2_HUMAN			6	600	-			184						Missense_Mutation	SNP	ENST00000221700.6	37	c.550G>C	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	2.522	-0.310507	0.05458	.	.	ENSG00000186115	ENST00000221700;ENST00000392846;ENST00000011989	T;T	0.68903	-0.36;-0.34	3.07	0.621	0.17643	.	0.857075	0.09708	U	0.766065	T	0.51210	0.1661	L	0.28344	0.845	0.09310	N	1	B;B	0.20887	0.041;0.049	B;B	0.29077	0.098;0.082	T	0.39583	-0.9607	10	0.16896	T	0.51	.	8.723	0.34452	0.0:0.5382:0.4618:0.0	.	35;184	B4DV75;P78329	.;CP4F2_HUMAN	Q	184;35;35	ENSP00000221700:E184Q;ENSP00000011989:E35Q	ENSP00000011989:E35Q	E	-	1	0	CYP4F2	15862219	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.397000	0.20883	0.092000	0.17331	0.195000	0.17529	GAG		0.542	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3		NM_001082		19	75	0	0	0	0.016522	0	19	75		
ABHD8	79575	broad.mit.edu	37	19	17411697	17411697	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:17411697C>T	ENST00000247706.3	-	2	968	c.729G>A	c.(727-729)aaG>aaA	p.K243K	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000594999.1_5'Flank|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	243							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CATTTCGCTTCTTGGCATAGC	0.597																																					Ovarian(156;1368 2543 15275 41187)	uc002ngb.3		NaN																	0					0						c.(727-729)AAG>AAA		abhydrolase domain containing 8							96.0	101.0	99.0					19																	17411697		2200	4299	6499	SO:0001819	synonymous_variant	79575						hydrolase activity	g.chr19:17411697C>T	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.729G>A	19.37:g.17411697C>T							p.K243K	NM_024527	NP_078803	Q96I13	ABHD8_HUMAN			2	969	-			243					Q9HAE9	Silent	SNP	ENST00000247706.3	37	c.729G>A	CCDS12355.1																																																																																				0.597	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1		NM_024527		36	150	0	0	0	0.007835	0	36	150		
KCNN1	3780	broad.mit.edu	37	19	18099287	18099287	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:18099287G>A	ENST00000222249.9	+	7	1442	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	375					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	CACCAAGGCTGAGAAGCACGT	0.637																																						uc002nht.2		NaN																	0					0						c.(1123-1125)GAG>AAG		potassium intermediate/small conductance							71.0	70.0	70.0					19																	18099287		2203	4300	6503	SO:0001583	missense	3780				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr19:18099287G>A	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.1123G>A	19.37:g.18099287G>A	ENSP00000476519:p.Glu375Lys					KCNN1_uc010xqa.1_Missense_Mutation_p.E375K	p.E375K	NM_002248	NP_002239	Q92952	KCNN1_HUMAN			7	1433	+			375					Q5KR10|Q6DJU4	Missense_Mutation	SNP	ENST00000222249.9	37	c.1123G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.380449	0.95945	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	4.61	4.61	0.57282	Calmodulin-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.73768	0.3629	M	0.86953	2.85	0.58432	D	0.999998	P	0.41524	0.753	P	0.46885	0.53	T	0.80271	-0.1452	9	0.87932	D	0	-34.2228	14.9543	0.71101	0.0:0.0:1.0:0.0	.	375	Q92952	KCNN1_HUMAN	K	392;375	.	ENSP00000222249:E392K	E	+	1	0	KCNN1	17960287	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	9.600000	0.98282	2.116000	0.64780	0.561000	0.74099	GAG		0.637	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2		NM_002248		7	16	0	0	0	0.004482	0	7	16		
KIAA1683	80726	broad.mit.edu	37	19	18376060	18376060	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:18376060C>T	ENST00000600328.3	-	3	2483	c.2290G>A	c.(2290-2292)Gat>Aat	p.D764N	KIAA1683_ENST00000600359.3_Missense_Mutation_p.D718N|KIAA1683_ENST00000392413.4_Missense_Mutation_p.D764N			Q9H0B3	K1683_HUMAN	KIAA1683	764						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTGCTGAGATCAGCAGCCTGG	0.657																																						uc002nin.2		NaN																	0				ovary(2)	2						c.(2290-2292)GAT>AAT		KIAA1683 isoform b							109.0	105.0	106.0					19																	18376060		2203	4300	6503	SO:0001583	missense	80726					mitochondrion		g.chr19:18376060C>T	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2290G>A	19.37:g.18376060C>T	ENSP00000470780:p.Asp764Asn					KIAA1683_uc010ebn.2_Missense_Mutation_p.D764N|KIAA1683_uc010xqe.1_Missense_Mutation_p.D718N	p.D764N	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN			3	2506	-			764					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	c.2290G>A	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035770	0.54896	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000411671	T;T;T	0.04809	3.62;3.63;3.55	4.43	0.908	0.19326	.	0.204190	0.24256	N	0.040123	T	0.06050	0.0157	N	0.24115	0.695	0.09310	N	1	D;P	0.60575	0.988;0.895	P;B	0.57204	0.815;0.351	T	0.37056	-0.9722	10	0.28530	T	0.3	-13.6398	6.4727	0.22018	0.319:0.5916:0.0:0.0894	.	764;764	E9PDE0;Q9H0B3	.;K1683_HUMAN	N	764;764;718;378	ENSP00000376213:D764N;ENSP00000352774:D764N;ENSP00000404501:D718N	ENSP00000352774:D764N	D	-	1	0	KIAA1683	18237060	0.069000	0.21087	0.000000	0.03702	0.001000	0.01503	3.100000	0.50275	0.067000	0.16545	-1.083000	0.02208	GAT		0.657	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3				39	77	0	0	0	0.011902	0	39	77		
SSBP4	170463	broad.mit.edu	37	19	18543520	18543520	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:18543520C>G	ENST00000270061.7	+	12	1055	c.761C>G	c.(760-762)tCc>tGc	p.S254C	SSBP4_ENST00000348495.6_Missense_Mutation_p.S232C|SSBP4_ENST00000599699.2_5'Flank	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	254	Pro-rich.					nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						ATCCCCTACTCCTCCTCATCC	0.642																																						uc002niy.2		NaN																	0					0						c.(760-762)TCC>TGC		single stranded DNA binding protein 4 isoform a							38.0	39.0	39.0					19																	18543520		2203	4298	6501	SO:0001583	missense	170463					nucleus	single-stranded DNA binding	g.chr19:18543520C>G		CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.761C>G	19.37:g.18543520C>G	ENSP00000270061:p.Ser254Cys					SSBP4_uc002niz.2_Missense_Mutation_p.S232C	p.S254C	NM_032627	NP_116016	Q9BWG4	SSBP4_HUMAN			12	999	+			254			Pro-rich.		Q9BWW5	Missense_Mutation	SNP	ENST00000270061.7	37	c.761C>G	CCDS12378.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969306	0.53614	.	.	ENSG00000130511	ENST00000270061;ENST00000348495	.	.	.	3.96	2.81	0.32909	.	0.000000	0.64402	U	0.000005	T	0.69682	0.3138	M	0.68952	2.095	0.51012	D	0.999901	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.71771	-0.4492	9	0.72032	D	0.01	-32.0411	8.9659	0.35877	0.0:0.7718:0.2282:0.0	.	232;254	Q9BWW5;Q9BWG4	.;SSBP4_HUMAN	C	254;232	.	ENSP00000270061:S254C	S	+	2	0	SSBP4	18404520	0.996000	0.38824	0.998000	0.56505	0.580000	0.36256	4.279000	0.58953	1.950000	0.56595	0.511000	0.50034	TCC		0.642	SSBP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466348.3		NM_032627		7	16	0	0	0	0.006214	0	7	16		
GPATCH1	55094	broad.mit.edu	37	19	33608848	33608848	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:33608848G>A	ENST00000170564.2	+	16	2628	c.2314G>A	c.(2314-2316)Gag>Aag	p.E772K		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	772					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CTCCGAGGATGAGCAAGGTGA	0.552																																					Pancreas(67;88 1713 4567 18227)	uc002nug.1		NaN																	0				skin(1)	1						c.(2314-2316)GAG>AAG		G patch domain containing 1							96.0	83.0	87.0					19																	33608848		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33608848G>A	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.2314G>A	19.37:g.33608848G>A	ENSP00000170564:p.Glu772Lys					GPATCH1_uc002nuh.1_Missense_Mutation_p.E149K	p.E772K	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN			16	2628	+	Esophageal squamous(110;0.137)		772					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.2314G>A	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081462	0.55753	.	.	ENSG00000076650	ENST00000170564	T	0.12879	2.64	4.81	4.81	0.61882	.	0.302835	0.35585	N	0.003107	T	0.14098	0.0341	L	0.56769	1.78	0.51012	D	0.999901	P;P	0.43094	0.799;0.651	B;B	0.38378	0.272;0.212	T	0.08493	-1.0719	10	0.09338	T	0.73	-25.4926	15.7475	0.77958	0.0:0.0:1.0:0.0	.	772;772	B2RDX4;Q9BRR8	.;GPTC1_HUMAN	K	772	ENSP00000170564:E772K	ENSP00000170564:E772K	E	+	1	0	GPATCH1	38300688	1.000000	0.71417	0.969000	0.41365	0.202000	0.24057	6.908000	0.75730	2.356000	0.79943	0.563000	0.77884	GAG		0.552	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1		NM_018025		7	57	0	0	0	0.00308	0	7	57		
ZNF599	148103	broad.mit.edu	37	19	35250830	35250830	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:35250830G>A	ENST00000329285.8	-	4	1249	c.876C>T	c.(874-876)ttC>ttT	p.F292F		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGCGGTGGGTGAATGCTTTGC	0.453																																						uc010edn.1		NaN																	0				ovary(1)|skin(1)	2						c.(874-876)TTC>TTT		zinc finger protein 599							136.0	154.0	148.0					19																	35250830		2203	4300	6503	SO:0001819	synonymous_variant	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35250830G>A	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.876C>T	19.37:g.35250830G>A						ZNF599_uc010edm.1_Silent_p.F255F	p.F292F	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1264	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		292			C2H2-type 4.		Q569K0|Q5PRG1	Silent	SNP	ENST00000329285.8	37	c.876C>T	CCDS32991.1																																																																																				0.453	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2		XM_086046		42	96	0	0	0	0.013114	0	42	96		
ZNF585B	92285	broad.mit.edu	37	19	37677474	37677474	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:37677474C>G	ENST00000532828.2	-	5	1216	c.965G>C	c.(964-966)aGa>aCa	p.R322T	ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.R267T|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGGCTTCACTCTTGTGTGAAC	0.378																																					Melanoma(93;882 1454 18863 28917 48427)	uc002ofq.2		NaN																	0				ovary(1)	1						c.(964-966)AGA>ACA		zinc finger protein 585B							208.0	190.0	196.0					19																	37677474		2203	4297	6500	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677474C>G	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.965G>C	19.37:g.37677474C>G	ENSP00000433773:p.Arg322Thr					uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Missense_Mutation_p.R136T	p.R322T	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1219	-			322					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.965G>C	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	5.420	0.262678	0.10294	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.53206	0.63;0.63	2.71	2.71	0.32032	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40908	D	0.000981	T	0.40372	0.1114	L	0.41573	1.285	0.80722	D	1	P;D	0.58970	0.631;0.984	B;P	0.45681	0.109;0.49	T	0.40720	-0.9548	10	0.72032	D	0.01	.	9.555	0.39332	0.0:0.7816:0.2184:0.0	.	267;322	E9PQH3;Q52M93	.;Z585B_HUMAN	T	267;322	ENSP00000436774:R267T;ENSP00000433773:R322T	ENSP00000436774:R267T	R	-	2	0	ZNF585B	42369314	0.004000	0.15560	0.064000	0.19789	0.004000	0.04260	1.261000	0.32980	1.501000	0.48654	0.455000	0.32223	AGA		0.378	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2		NM_152279		30	130	0	0	0	0.003755	0	30	130		
NFKBIB	4793	broad.mit.edu	37	19	39399404	39399404	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:39399404C>T	ENST00000313582.5	+	6	1037	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C	NFKBIB_ENST00000392079.3_3'UTR	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	335					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCACAGCAGCCGCAGCCAAAC	0.567																																					Pancreas(165;1492 2005 6979 7739 34483)	uc002ojw.2		NaN																	0				lung(1)|kidney(1)	2						c.(1003-1005)CGC>TGC		nuclear factor of kappa light polypeptide gene							81.0	89.0	86.0					19																	39399404		2203	4300	6503	SO:0001583	missense	4793				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity	g.chr19:39399404C>T	L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"""Ankyrin repeat domain containing"""	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.1003C>T	19.37:g.39399404C>T	ENSP00000312988:p.Arg335Cys					NFKBIB_uc002ojx.2_3'UTR|NFKBIB_uc002ojy.2_3'UTR	p.R335C	NM_002503	NP_002494	Q15653	IKBB_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		6	1061	+	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		335					A8K3F4|Q96BJ7	Missense_Mutation	SNP	ENST00000313582.5	37	c.1003C>T	CCDS12524.1	.	.	.	.	.	.	.	.	.	.	c	11.88	1.769705	0.31320	.	.	ENSG00000104825	ENST00000313582	T	0.56444	0.46	5.08	0.402	0.16344	.	0.638065	0.13801	N	0.361803	T	0.28499	0.0705	N	0.12182	0.205	0.09310	N	0.999995	B	0.14012	0.009	B	0.06405	0.002	T	0.14200	-1.0481	10	0.51188	T	0.08	4.0194	4.137	0.10176	0.3212:0.5014:0.0:0.1775	.	335	Q15653	IKBB_HUMAN	C	335	ENSP00000312988:R335C	ENSP00000312988:R335C	R	+	1	0	NFKBIB	44091244	0.872000	0.30054	0.091000	0.20842	0.036000	0.12997	0.313000	0.19415	0.019000	0.15079	-0.735000	0.03563	CGC		0.567	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1		NM_002503		38	85	0	0	0	0.01441	0	38	85		
NFKBIB	4793	broad.mit.edu	37	19	39399438	39399438	+	Nonsense_Mutation	SNP	C	C	G	rs11551804		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:39399438C>G	ENST00000313582.5	+	6	1071	c.1037C>G	c.(1036-1038)tCa>tGa	p.S346*	NFKBIB_ENST00000392079.3_3'UTR	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	346					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACCCCAGCCTCAAAACCTCTT	0.527																																					Pancreas(165;1492 2005 6979 7739 34483)	uc002ojw.2		NaN																	0				lung(1)|kidney(1)	2						c.(1036-1038)TCA>TGA		nuclear factor of kappa light polypeptide gene							82.0	92.0	88.0					19																	39399438		2203	4300	6503	SO:0001587	stop_gained	4793				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity	g.chr19:39399438C>G	L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"""Ankyrin repeat domain containing"""	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.1037C>G	19.37:g.39399438C>G	ENSP00000312988:p.Ser346*					NFKBIB_uc002ojx.2_3'UTR|NFKBIB_uc002ojy.2_3'UTR	p.S346*	NM_002503	NP_002494	Q15653	IKBB_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		6	1095	+	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		346					A8K3F4|Q96BJ7	Nonsense_Mutation	SNP	ENST00000313582.5	37	c.1037C>G	CCDS12524.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240534	0.39598	.	.	ENSG00000104825	ENST00000313582	.	.	.	4.75	3.68	0.42216	.	1.437170	0.04728	N	0.420644	.	.	.	.	.	.	0.20975	N	0.999817	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-0.1522	10.1513	0.42796	0.1993:0.8007:0.0:0.0	.	.	.	.	X	346	.	ENSP00000312988:S346X	S	+	2	0	NFKBIB	44091278	0.001000	0.12720	0.036000	0.18154	0.237000	0.25408	0.721000	0.25911	1.304000	0.44892	0.655000	0.94253	TCA		0.527	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1		NM_002503		35	79	0	0	0	0.00874	0	35	79		
CYP2F1	1572	broad.mit.edu	37	19	41622139	41622139	+	Missense_Mutation	SNP	G	G	A	rs142026539		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:41622139G>A	ENST00000331105.2	+	2	118	c.46G>A	c.(46-48)Gtc>Atc	p.V16I		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	16					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCTGGCTCTCGTCTGTCTGCT	0.577													A|||	1	0.000199681	0.0008	0.0	5008	,	,		21088	0.0		0.0	False		,,,				2504	0.0					uc002opu.1		NaN																	0					0						c.(46-48)GTC>ATC		cytochrome P450, family 2, subfamily F,		G	ILE/VAL	3,4403	825.9+/-416.6	0,3,2200	156.0	137.0	143.0		46	-5.0	0.0	19	dbSNP_134	143	0,8600		0,0,4300	no	missense	CYP2F1	NM_000774.3	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	16/492	41622139	3,13003	2203	4300	6503	SO:0001583	missense	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41622139G>A	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.46G>A	19.37:g.41622139G>A	ENSP00000333534:p.Val16Ile					CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.V16I|CYP2F1_uc002opv.1_RNA	p.V16I	NM_000774	NP_000765	P24903	CP2F1_HUMAN			2	102	+			16					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	c.46G>A	CCDS12572.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	7.045	0.563338	0.13498	6.81E-4	0.0	ENSG00000197446	ENST00000331105	T	0.69306	-0.39	3.86	-4.96	0.03038	.	0.885835	0.09672	N	0.770918	T	0.40473	0.1118	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30031	-0.9992	10	0.17369	T	0.5	.	12.6042	0.56514	0.8311:0.0:0.1689:0.0	.	16;16	Q32MN5;P24903	.;CP2F1_HUMAN	I	16	ENSP00000333534:V16I	ENSP00000333534:V16I	V	+	1	0	CYP2F1	46313979	0.000000	0.05858	0.000000	0.03702	0.778000	0.44026	-4.618000	0.00207	-0.794000	0.04468	-0.279000	0.10071	GTC		0.577	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2				15	121	0	0	0	0.006122	0	15	121		
EXOC3L2	90332	broad.mit.edu	37	19	45720793	45720793	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:45720793C>T	ENST00000252482.3	-	7	839	c.812G>A	c.(811-813)cGg>cAg	p.R271Q	EXOC3L2_ENST00000413988.1_Missense_Mutation_p.R271Q			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	271					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GACCAGCCGCCGGAACAGCCT	0.701																																						uc002pay.1		NaN																	0				ovary(1)	1						c.(811-813)CGG>CAG		exocyst complex component 3-like 2							9.0	12.0	11.0					19																	45720793		2145	4216	6361	SO:0001583	missense	90332							g.chr19:45720793C>T	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.812G>A	19.37:g.45720793C>T	ENSP00000252482:p.Arg271Gln						p.R271Q	NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00883)	8	853	-		all_neural(266;0.224)|Ovarian(192;0.231)	271			Potential.		Q8N9W2|Q96GV2	Missense_Mutation	SNP	ENST00000252482.3	37	c.812G>A	CCDS12657.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757079	0.49468	.	.	ENSG00000130201	ENST00000252482;ENST00000413988	T;T	0.06068	3.35;3.35	3.58	3.58	0.41010	.	0.308070	0.28453	N	0.015286	T	0.05686	0.0149	L	0.40543	1.245	0.20074	N	0.999934	P	0.52463	0.953	B	0.43052	0.406	T	0.19192	-1.0313	10	0.07175	T	0.84	.	11.0907	0.48115	0.0:1.0:0.0:0.0	.	271	Q2M3D2	EX3L2_HUMAN	Q	271	ENSP00000252482:R271Q;ENSP00000400713:R271Q	ENSP00000252482:R271Q	R	-	2	0	EXOC3L2	50412633	0.434000	0.25570	0.993000	0.49108	0.832000	0.47134	1.475000	0.35409	1.727000	0.51537	0.306000	0.20318	CGG		0.701	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1		NM_138568		3	12	0	0	0	0.004672	0	3	12		
MARK4	57787	broad.mit.edu	37	19	45767943	45767943	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:45767943G>A	ENST00000262891.4	+	5	688	c.357G>A	c.(355-357)gtG>gtA	p.V119V	MARK4_ENST00000300843.4_Splice_Site_p.V119V	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCATTATAGTGAAGCTCTTTG	0.552																																						uc002pbb.1		NaN																	0				central_nervous_system(2)|large_intestine(1)	3						c.(355-357)GTG>GTA		RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;							145.0	128.0	134.0					19																	45767943		2203	4300	6503	SO:0001630	splice_region_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45767943G>A	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.356-1G>A	19.37:g.45767943G>A						MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Silent_p.V119V|MARK4_uc002pbc.1_5'UTR	p.V119V			Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	5	362	+		all_neural(266;0.224)|Ovarian(192;0.231)	119			Protein kinase.		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	37	c.357G>A	CCDS56097.1																																																																																				0.552	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1		NM_031417	Silent	38	91	0	0	0	0.011902	0	38	91		
FOSB	2354	broad.mit.edu	37	19	45975962	45975962	+	Missense_Mutation	SNP	G	G	A	rs199730181		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:45975962G>A	ENST00000353609.3	+	4	1301	c.709G>A	c.(709-711)Gag>Aag	p.E237K	FOSB_ENST00000585836.1_Missense_Mutation_p.E162K|FOSB_ENST00000592811.1_Missense_Mutation_p.E188K|FOSB_ENST00000592436.1_Missense_Mutation_p.E237K|FOSB_ENST00000417353.2_Missense_Mutation_p.E201K|FOSB_ENST00000591858.1_Missense_Mutation_p.E198K|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000443841.2_Missense_Mutation_p.E94K|FOSB_ENST00000586615.1_Missense_Mutation_p.E188K	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	237					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CCCGCTGGCGGAGGTGAGAGA	0.667																																						uc002pbx.3		NaN																	0				ovary(2)|lung(1)	3						c.(709-711)GAG>AAG		FBJ murine osteosarcoma viral oncogene homolog B			LYS/GLU,LYS/GLU	0,4398		0,0,2199	22.0	29.0	27.0		601,709	4.8	1.0	19		27	2,8592		0,2,4295	yes	missense,missense	FOSB	NM_001114171.1,NM_006732.2	56,56	0,2,6494	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	201/303,237/339	45975962	2,12990	2199	4297	6496	SO:0001583	missense	2354				behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr19:45975962G>A		CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"""basic leucine zipper proteins"""	3797	protein-coding gene	gene with protein product	"""oncogene FOS-B"", ""activator protein 1"""	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.709G>A	19.37:g.45975962G>A	ENSP00000245919:p.Glu237Lys					ERCC1_uc002pbu.1_Intron|FOSB_uc010eke.2_Missense_Mutation_p.E162K|FOSB_uc002pby.3_Missense_Mutation_p.E201K|FOSB_uc010eka.1_Missense_Mutation_p.E198K|FOSB_uc010ekb.1_Missense_Mutation_p.E237K|FOSB_uc010ekc.1_Missense_Mutation_p.E94K|FOSB_uc010ekf.2_Missense_Mutation_p.E198K|FOSB_uc010ekd.1_Missense_Mutation_p.E201K|FOSB_uc010ekg.2_Missense_Mutation_p.E94K|FOSB_uc002pca.3_Missense_Mutation_p.E188K	p.E237K	NM_006732	NP_006723	P53539	FOSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)	4	1301	+		Ovarian(192;0.051)|all_neural(266;0.112)	237					A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Missense_Mutation	SNP	ENST00000353609.3	37	c.709G>A	CCDS12664.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108333	0.77096	0.0	2.33E-4	ENSG00000125740	ENST00000353609;ENST00000417353;ENST00000455928;ENST00000443841	T;T;T	0.64085	-0.08;0.92;0.92	4.77	4.77	0.60923	.	0.000000	0.49305	D	0.000155	T	0.63873	0.2548	L	0.29908	0.895	0.27876	N	0.939876	P;B;B;P;B;B	0.49696	0.927;0.061;0.4;0.927;0.248;0.3	D;B;B;D;B;B	0.67725	0.953;0.045;0.168;0.953;0.098;0.045	T	0.53287	-0.8460	10	0.08599	T	0.76	-12.4564	13.2131	0.59836	0.0:0.0:1.0:0.0	.	94;198;162;94;201;237	E7EPR6;A8VJF0;A8VJF3;A8VJG5;E9PHJ3;P53539	.;.;.;.;.;FOSB_HUMAN	K	237;201;237;94	ENSP00000245919:E237K;ENSP00000407207:E201K;ENSP00000414177:E94K	ENSP00000245919:E237K	E	+	1	0	FOSB	50667802	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	2.028000	0.41088	2.497000	0.84241	0.549000	0.68633	GAG		0.667	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459561.1		NM_006732		9	22	0	0	0	0.008291	0	9	22		
ZC3H4	23211	broad.mit.edu	37	19	47572355	47572355	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:47572355C>T	ENST00000253048.5	-	14	2429	c.2392G>A	c.(2392-2394)Gag>Aag	p.E798K	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	798							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GTGCCTTCCTCATTCTCCCGG	0.677																																						uc002pga.3		NaN																	0				skin(4)|ovary(2)	6						c.(2392-2394)GAG>AAG		zinc finger CCCH-type containing 4							89.0	102.0	98.0					19																	47572355		2070	4194	6264	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47572355C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2392G>A	19.37:g.47572355C>T	ENSP00000253048:p.Glu798Lys					ZC3H4_uc002pgb.1_Intron	p.E798K	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	14	2430	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	798			Potential.		Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.2392G>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526302	0.85600	.	.	ENSG00000130749	ENST00000253048	T	0.20738	2.05	5.56	4.53	0.55603	.	1.334620	0.04886	N	0.448654	T	0.32010	0.0815	M	0.68317	2.08	0.39203	D	0.963172	D	0.59357	0.985	B	0.44224	0.444	T	0.36407	-0.9749	10	0.52906	T	0.07	.	12.7714	0.57423	0.0:0.9195:0.0:0.0805	.	798	Q9UPT8	ZC3H4_HUMAN	K	798	ENSP00000253048:E798K	ENSP00000253048:E798K	E	-	1	0	ZC3H4	52264195	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.475000	0.66787	2.619000	0.88677	0.491000	0.48974	GAG		0.677	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1				39	107	0	0	0	0.007835	0	39	107		
EHD2	30846	broad.mit.edu	37	19	48244215	48244215	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:48244215G>A	ENST00000263277.3	+	6	1409	c.1158G>A	c.(1156-1158)ctG>ctA	p.L386L	EHD2_ENST00000538399.1_Silent_p.L250L|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	386					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		ACGAGATGCTGACGCACGACA	0.647																																						uc002phj.3		NaN																	0				ovary(1)|skin(1)	2						c.(1156-1158)CTG>CTA		EH-domain containing 2							51.0	46.0	48.0					19																	48244215		2203	4300	6503	SO:0001819	synonymous_variant	30846				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding	g.chr19:48244215G>A	AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1158G>A	19.37:g.48244215G>A						EHD2_uc010xyu.1_Silent_p.L250L|EHD2_uc010xyv.1_Silent_p.L69L	p.L386L	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)	6	1408	+		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	386					B2RDH9|B4DNU6|Q96CB6	Silent	SNP	ENST00000263277.3	37	c.1158G>A	CCDS12704.1																																																																																				0.647	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465851.1				22	31	0	0	0	0.003954	0	22	31		
ALDH16A1	126133	broad.mit.edu	37	19	49967512	49967512	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:49967512G>A	ENST00000293350.4	+	10	1486	c.1323G>A	c.(1321-1323)ctG>ctA	p.L441L	ALDH16A1_ENST00000540132.1_Silent_p.L278L|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000433981.2_Silent_p.L276L|ALDH16A1_ENST00000455361.2_Silent_p.L390L	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	441						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CGCTGGAGCTGGGCTATGGGT	0.667																																						uc002pnt.2		NaN																	0				skin(1)	1						c.(1321-1323)CTG>CTA		aldehyde dehydrogenase 16 family, member A1							20.0	27.0	24.0					19																	49967512		2203	4296	6499	SO:0001819	synonymous_variant	126133						oxidoreductase activity|protein binding	g.chr19:49967512G>A	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1323G>A	19.37:g.49967512G>A						ALDH16A1_uc010yar.1_Silent_p.L390L|ALDH16A1_uc010yas.1_Silent_p.L276L|ALDH16A1_uc010yat.1_Silent_p.L278L	p.L441L	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	10	1439	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	441					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	ENST00000293350.4	37	c.1323G>A	CCDS12766.1																																																																																				0.667	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1		NM_153329		5	14	0	0	0	0.001168	0	5	14		
ZNF880	400713	broad.mit.edu	37	19	52887440	52887440	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:52887440C>G	ENST00000422689.2	+	4	622	c.607C>G	c.(607-609)Caa>Gaa	p.Q203E		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	203					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TGCTAACAATCAAGTAATCCA	0.373																																						uc002pzc.2		NaN																	0					0						c.(607-609)CAA>GAA		zinc finger protein LOC400713							46.0	45.0	45.0					19																	52887440		692	1591	2283	SO:0001583	missense	400713				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:52887440C>G	BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"""Zinc fingers, C2H2-type"", ""-"""	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.607C>G	19.37:g.52887440C>G	ENSP00000406318:p.Gln203Glu						p.Q203E	NM_001145434	NP_001138906	Q6PDB4	ZN880_HUMAN			4	656	+			203			C2H2-type 1; degenerate.		B4DNA6	Missense_Mutation	SNP	ENST00000422689.2	37	c.607C>G	CCDS46164.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.482138	0.26598	.	.	ENSG00000221923	ENST00000422689	T	0.28895	1.59	1.84	1.84	0.25277	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24890	0.0604	L	0.55103	1.725	0.09310	N	1	P	0.36048	0.534	B	0.29862	0.108	T	0.09840	-1.0656	8	.	.	.	.	9.251	0.37555	0.0:1.0:0.0:0.0	.	203	Q6PDB4	ZN880_HUMAN	E	203	ENSP00000406318:Q203E	.	Q	+	1	0	ZNF880	57579252	0.001000	0.12720	0.004000	0.12327	0.003000	0.03518	0.580000	0.23803	1.006000	0.39211	0.551000	0.68910	CAA		0.373	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397374.1		NM_001145434		6	16	0	0	0	0.001168	0	6	16		
LENG9	94059	broad.mit.edu	37	19	54973627	54973627	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:54973627C>T	ENST00000333834.4	-	1	1267	c.1149G>A	c.(1147-1149)ctG>ctA	p.L383L		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	383							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GGGCCCGTCTCAGAGCTCCAA	0.657																																						uc010yez.1		NaN																	0					0						c.(1147-1149)CTG>CTA		leukocyte receptor cluster (LRC) member 9							32.0	38.0	36.0					19																	54973627		2201	4297	6498	SO:0001819	synonymous_variant	94059				RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding	g.chr19:54973627C>T	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.1149G>A	19.37:g.54973627C>T							p.L383L	NM_198988	NP_945339	Q96B70	LENG9_HUMAN		GBM - Glioblastoma multiforme(193;0.134)	1	1268	-	Ovarian(34;0.19)		383					B2VAM3	Silent	SNP	ENST00000333834.4	37	c.1149G>A	CCDS12895.2																																																																																				0.657	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3		NM_198988		7	39	0	0	0	0.006214	0	7	39		
LILRA1	11024	broad.mit.edu	37	19	55107923	55107923	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:55107923C>T	ENST00000251372.3	+	7	1410	c.1228C>T	c.(1228-1230)Cac>Tac	p.H410Y	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	410	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTGCTGTCTCACCCCAGTGA	0.612																																						uc002qgh.1		NaN																	0				skin(2)|ovary(1)	3						c.(1228-1230)CAC>TAC		leukocyte immunoglobulin-like receptor,							118.0	108.0	111.0					19																	55107923		2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55107923C>T	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.1228C>T	19.37:g.55107923C>T	ENSP00000251372:p.His410Tyr					LILRA2_uc010yfg.1_Missense_Mutation_p.H408Y|LILRA1_uc010yfh.1_Missense_Mutation_p.H410Y	p.H410Y	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	7	1410	+			410			Ig-like C2-type 4.|Extracellular (Potential).		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.1228C>T	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.449024	0.00175	.	.	ENSG00000104974	ENST00000251372	T	0.00724	5.78	1.71	-2.42	0.06542	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	4.146950	0.00829	N	0.001640	T	0.01320	0.0043	M	0.83312	2.635	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.53641	-0.8410	10	0.18276	T	0.48	.	0.6412	0.00810	0.2435:0.3424:0.2402:0.174	.	410	O75019	LIRA1_HUMAN	Y	410	ENSP00000251372:H410Y	ENSP00000251372:H410Y	H	+	1	0	LILRA1	59799735	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.797000	0.00763	-0.526000	0.06383	-1.027000	0.02421	CAC		0.612	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2		NM_006863		38	108	0	0	0	0.01441	0	38	108		
KIR3DL1	3811	broad.mit.edu	37	19	55294990	55294990	+	Intron	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:55294990G>A	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Splice_Site_p.E316E|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL3_ENST00000434419.2_Splice_Site_p.E290E|KIR2DL1_ENST00000336077.6_Splice_Site_p.E290E			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CGAATAGCGAGGTAGGTACTC	0.532																																						uc002qhb.1		NaN																	0					0						c.(868-870)GAG>GAA		killer cell immunoglobulin-like receptor, two							144.0	148.0	147.0					19																	55294990		2170	4187	6357	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55294990G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-33999G>A	19.37:g.55294990G>A						KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_5'Flank|KIR2DL3_uc010erw.1_Silent_p.E291E|KIR2DL1_uc002qgz.1_Silent_p.E200E|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Silent_p.E316E	p.E290E	NM_014218	NP_055033	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	7	908	+			290			Cytoplasmic (Potential).		O43473|Q14946|Q16541	Silent	SNP	ENST00000538269.1	37	c.870G>A																																																																																					0.532	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_013289		35	81	0	0	0	0.010771	0	35	81		
NLRP2	55655	broad.mit.edu	37	19	55508805	55508805	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:55508805G>C	ENST00000543010.1	+	12	3143	c.3000G>C	c.(2998-3000)aaG>aaC	p.K1000N	NLRP2_ENST00000263437.6_Missense_Mutation_p.K997N|NLRP2_ENST00000538819.1_Missense_Mutation_p.K976N|NLRP2_ENST00000339757.7_Missense_Mutation_p.K978N|NLRP2_ENST00000427260.2_Missense_Mutation_p.K977N|NLRP2_ENST00000537859.1_Missense_Mutation_p.K978N|NLRP2_ENST00000448584.2_Missense_Mutation_p.K1000N|NLRP2_ENST00000391721.4_Missense_Mutation_p.K976N	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	1000					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTGGAGTGAAGATGCTGTTTG	0.527																																						uc002qij.2		NaN																	0				ovary(1)|skin(1)	2						c.(2998-3000)AAG>AAC		NLR family, pyrin domain containing 2							221.0	198.0	206.0					19																	55508805		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55508805G>C	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.3000G>C	19.37:g.55508805G>C	ENSP00000445135:p.Lys1000Asn					NLRP2_uc010yfp.1_Missense_Mutation_p.K977N|NLRP2_uc010esn.2_Missense_Mutation_p.K976N|NLRP2_uc010eso.2_Missense_Mutation_p.K997N|NLRP2_uc010esp.2_Missense_Mutation_p.K978N	p.K1000N	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	12	3086	+			1000			LRR 7.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.3000G>C	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	G	7.229	0.599021	0.13939	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	2.73	1.68	0.24146	.	.	.	.	.	T	0.46249	0.1383	M	0.73217	2.22	0.09310	N	1	B;B;B;B;B	0.32188	0.12;0.196;0.359;0.098;0.12	B;B;B;B;B	0.34722	0.188;0.092;0.15;0.118;0.133	T	0.31971	-0.9924	9	0.19147	T	0.46	.	4.6244	0.12470	0.1841:0.0:0.8159:0.0	.	977;978;997;976;1000	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	N	1000;976;978;1000;978;977;976;997	ENSP00000445135:K1000N;ENSP00000375601:K976N;ENSP00000344074:K978N;ENSP00000409370:K1000N;ENSP00000440601:K978N;ENSP00000402474:K977N;ENSP00000441133:K976N;ENSP00000263437:K997N	ENSP00000263437:K997N	K	+	3	2	NLRP2	60200617	0.002000	0.14202	0.012000	0.15200	0.022000	0.10575	0.996000	0.29719	1.494000	0.48533	0.561000	0.74099	AAG		0.527	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1		NM_017852		24	133	0	0	0	0.008361	0	24	133		
ZNF749	388567	broad.mit.edu	37	19	57956341	57956341	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:57956341G>A	ENST00000334181.4	+	3	2075	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	609					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TCACACTGGAGAAAAGCCTTA	0.388																																						uc002qoq.2		NaN																	0					0						c.(1825-1827)GAA>AAA		zinc finger protein 749							62.0	67.0	65.0					19																	57956341		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956341G>A	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1825G>A	19.37:g.57956341G>A	ENSP00000333980:p.Glu609Lys					ZNF547_uc002qpm.3_Intron	p.E609K	NM_001023561	NP_001018855	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	2079	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	609						Missense_Mutation	SNP	ENST00000334181.4	37	c.1825G>A	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809369	0.50421	.	.	ENSG00000186230	ENST00000334181	T	0.24350	1.86	2.36	-1.74	0.08056	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23532	0.0569	L	0.56396	1.775	0.24151	N	0.995699	B	0.26547	0.152	B	0.31390	0.129	T	0.37291	-0.9712	9	0.66056	D	0.02	.	4.9672	0.14096	0.2275:0.1718:0.6007:0.0	.	609	O43361	ZN749_HUMAN	K	609	ENSP00000333980:E609K	ENSP00000333980:E609K	E	+	1	0	ZNF749	62648153	0.129000	0.22400	0.001000	0.08648	0.754000	0.42855	2.224000	0.42945	-0.460000	0.07003	-0.657000	0.03884	GAA		0.388	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1		NM_001023561		7	57	0	0	0	0.006214	0	7	57		
CHMP2A	27243	broad.mit.edu	37	19	59063468	59063468	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr19:59063468C>T	ENST00000600118.1	-	3	858	c.433G>A	c.(433-435)Gat>Aat	p.D145N	CHMP2A_ENST00000601220.1_Missense_Mutation_p.D145N|CHMP2A_ENST00000312547.2_Missense_Mutation_p.D145N			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	145	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		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;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TCAATGGCATCATTCATCATC	0.517																																						uc002qti.2		NaN																	0					0						c.(433-435)GAT>AAT		chromatin modifying protein 2A							404.0	309.0	341.0					19																	59063468		2203	4300	6503	SO:0001583	missense	27243				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding	g.chr19:59063468C>T	AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"""Charged multivesicular body proteins"""	30216	protein-coding gene	gene with protein product	"""putative breast adenocarcinoma marker (32kD)"", ""VPS2 homolog A (S. cerevisiae)"""	610893	"""chromatin modifying protein 2A"""			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.433G>A	19.37:g.59063468C>T	ENSP00000469240:p.Asp145Asn					CHMP2A_uc002qtj.2_Missense_Mutation_p.D145N|CHMP2A_uc002qtk.2_Missense_Mutation_p.D145N	p.D145N	NM_198426	NP_940818	O43633	CHM2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	3	859	-		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)	145			Interaction with VPS4B.		B2R4W6|Q3ZTT0	Missense_Mutation	SNP	ENST00000600118.1	37	c.433G>A	CCDS12986.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595145	0.86953	.	.	ENSG00000130724	ENST00000312547	T	0.73152	-0.72	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.87144	0.6104	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.89410	0.3702	10	0.56958	D	0.05	.	15.6104	0.76713	0.0:1.0:0.0:0.0	.	145	O43633	CHM2A_HUMAN	N	145	ENSP00000310440:D145N	ENSP00000310440:D145N	D	-	1	0	CHMP2A	63755280	1.000000	0.71417	0.963000	0.40424	0.799000	0.45148	6.838000	0.75359	2.639000	0.89480	0.650000	0.86243	GAT		0.517	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467088.1		NM_014453		39	181	0	0	0	0.010771	0	39	181		
MYT1L	23040	broad.mit.edu	37	2	1842969	1842969	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:1842969C>T	ENST00000399161.2	-	21	3779	c.3032G>A	c.(3031-3033)gGa>gAa	p.G1011E	MYT1L_ENST00000428368.2_Missense_Mutation_p.G1009E|MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000407844.1_Missense_Mutation_p.G7E	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1011					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCCGTCGCATCCTGGCGTGGG	0.667																																						uc002qxe.2		NaN																	0				ovary(5)|central_nervous_system(1)	6						c.(3031-3033)GGA>GAA		myelin transcription factor 1-like							28.0	34.0	32.0					2																	1842969		2050	4193	6243	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1842969C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3032G>A	2.37:g.1842969C>T	ENSP00000382114:p.Gly1011Glu					MYT1L_uc002qxd.2_Missense_Mutation_p.G1009E|MYT1L_uc010ewk.2_Missense_Mutation_p.G7E	p.G1011E	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	21	3859	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	1011			C2HC-type 6.		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.3032G>A		.	.	.	.	.	.	.	.	.	.	C	30	5.054524	0.93793	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000399157;ENST00000428368	T;T	0.63096	-0.01;-0.02	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.83445	0.5256	M	0.88906	2.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.86184	0.1608	10	0.87932	D	0	-39.09	19.5365	0.95255	0.0:1.0:0.0:0.0	.	7;1011;1009	Q9UL68-3;Q9UL68;Q9UL68-4	.;MYT1L_HUMAN;.	E	1011;957;7;65;1009	ENSP00000382114:G1011E;ENSP00000396103:G1009E	ENSP00000295067:G957E	G	-	2	0	MYT1L	1821976	1.000000	0.71417	0.151000	0.22473	0.862000	0.49288	7.750000	0.85110	2.618000	0.88619	0.563000	0.77884	GGA		0.667	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1		NM_015025		9	39	0	0	0	0.013537	0	9	39		
ASAP2	8853	broad.mit.edu	37	2	9484706	9484706	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:9484706C>A	ENST00000281419.3	+	10	1235	c.895C>A	c.(895-897)Cag>Aag	p.Q299K	ASAP2_ENST00000315273.4_Missense_Mutation_p.Q299K	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	299					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ACATCAGCCTCAGGGAAACAA	0.458																																						uc002qzh.2		NaN																	0					0						c.(895-897)CAG>AAG		ArfGAP with SH3 domain, ankyrin repeat and PH							105.0	98.0	100.0					2																	9484706		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9484706C>A	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.895C>A	2.37:g.9484706C>A	ENSP00000281419:p.Gln299Lys					ASAP2_uc002qzi.2_Missense_Mutation_p.Q299K	p.Q299K	NM_003887	NP_003878	O43150	ASAP2_HUMAN			10	1235	+			299					D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.895C>A	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	C	35	5.492487	0.96339	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.58060	0.36;0.36	5.34	5.34	0.76211	.	0.055377	0.64402	D	0.000001	T	0.57681	0.2070	M	0.78049	2.395	0.80722	D	1	P;B	0.39022	0.655;0.278	B;B	0.36464	0.225;0.112	T	0.63093	-0.6714	10	0.46703	T	0.11	.	19.408	0.94656	0.0:1.0:0.0:0.0	.	299;299	O43150-2;O43150	.;ASAP2_HUMAN	K	299	ENSP00000281419:Q299K;ENSP00000316404:Q299K	ENSP00000281419:Q299K	Q	+	1	0	ASAP2	9402157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.744000	0.85034	2.643000	0.89663	0.650000	0.86243	CAG		0.458	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1		NM_003887		24	66	1	0	2.2171e-23	0.009535	2.37987e-23	24	66		
NCOA1	8648	broad.mit.edu	37	2	24980905	24980905	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:24980905G>C	ENST00000406961.1	+	21	4597	c.3945G>C	c.(3943-3945)atG>atC	p.M1315I	NCOA1_ENST00000538539.1_Missense_Mutation_p.M1315I|NCOA1_ENST00000407230.1_Missense_Mutation_p.M1164I|NCOA1_ENST00000288599.5_Missense_Mutation_p.M1315I|NCOA1_ENST00000405141.1_Missense_Mutation_p.M1315I|NCOA1_ENST00000348332.3_Missense_Mutation_p.M1315I|NCOA1_ENST00000395856.3_Missense_Mutation_p.M1315I			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1315					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAACAACATGAGCATCACCG	0.473			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2		NaN		Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(3943-3945)ATG>ATC		nuclear receptor coactivator 1 isoform 1							149.0	115.0	126.0					2																	24980905		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24980905G>C	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.3945G>C	2.37:g.24980905G>C	ENSP00000385216:p.Met1315Ile					NCOA1_uc010eye.2_Missense_Mutation_p.M1315I|NCOA1_uc002rfi.2_Missense_Mutation_p.M1164I|NCOA1_uc002rfj.2_Missense_Mutation_p.M1315I|NCOA1_uc002rfl.2_Missense_Mutation_p.M1315I|NCOA1_uc010eyf.2_Missense_Mutation_p.M208I	p.M1315I	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			19	4203	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1315					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.3945G>C	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756447	0.89843	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02472	4.36;4.35;4.28;4.35;4.36;4.35;4.36	5.01	5.01	0.66863	.	0.127661	0.64402	D	0.000001	T	0.13286	0.0322	M	0.68317	2.08	0.80722	D	1	P;P;P;P;P	0.48294	0.851;0.908;0.851;0.908;0.851	P;P;P;P;P	0.61397	0.775;0.888;0.838;0.888;0.775	T	0.00084	-1.2100	10	0.66056	D	0.02	-12.6741	18.098	0.89497	0.0:0.0:1.0:0.0	.	1315;1315;1315;1315;1164	A8K1V4;Q15788-3;Q15788;Q15788-2;B5MCN7	.;.;NCOA1_HUMAN;.;.	I	1315;1315;1164;1315;1315;1315;1315	ENSP00000385216:M1315I;ENSP00000385097:M1315I;ENSP00000385195:M1164I;ENSP00000444039:M1315I;ENSP00000320940:M1315I;ENSP00000288599:M1315I;ENSP00000379197:M1315I	ENSP00000288599:M1315I	M	+	3	0	NCOA1	24834409	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.682000	0.84083	2.598000	0.87819	0.585000	0.79938	ATG		0.473	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3		NM_147223		20	55	0	0	0	0.007413	0	20	55		
DTNB	1838	broad.mit.edu	37	2	25803618	25803618	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:25803618G>A	ENST00000406818.3	-	7	930	c.681C>T	c.(679-681)ctC>ctT	p.L227L	DTNB_ENST00000288642.8_Silent_p.L227L|DTNB_ENST00000496972.2_Silent_p.L170L|DTNB_ENST00000407661.3_Silent_p.L227L|DTNB_ENST00000545439.1_Silent_p.L23L|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000407038.3_Silent_p.L227L|DTNB_ENST00000407186.1_Silent_p.L227L|DTNB_ENST00000405222.1_Silent_p.L227L|DTNB_ENST00000404103.3_Silent_p.L227L	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	227						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTGTGCATGAGAGGTAGCC	0.398																																						uc002rgh.2		NaN																	0				large_intestine(2)|ovary(2)	4						c.(679-681)CTC>CTT		dystrobrevin, beta isoform 1							103.0	111.0	108.0					2																	25803618		1899	4125	6024	SO:0001819	synonymous_variant	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25803618G>A	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.681C>T	2.37:g.25803618G>A						DTNB_uc010yko.1_Silent_p.L170L|DTNB_uc010ykp.1_Silent_p.L23L|DTNB_uc002rgo.2_Silent_p.L48L|DTNB_uc002rgi.2_Silent_p.L227L|DTNB_uc002rgj.2_Silent_p.L227L|DTNB_uc002rgk.2_Silent_p.L227L|DTNB_uc002rgl.2_Silent_p.L227L|DTNB_uc002rgq.2_Silent_p.L227L|DTNB_uc002rgm.2_Silent_p.L227L|DTNB_uc002rgn.2_Silent_p.L23L|DTNB_uc002rgr.1_Silent_p.L216L|DTNB_uc010ykq.1_Silent_p.L80L	p.L227L	NM_021907	NP_068707	O60941	DTNB_HUMAN			7	931	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		227					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Silent	SNP	ENST00000406818.3	37	c.681C>T	CCDS46237.1																																																																																				0.398	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1		NM_033147		28	72	0	0	0	0.012213	0	28	72		
DTNB	1838	broad.mit.edu	37	2	25803620	25803620	+	Missense_Mutation	SNP	G	G	A	rs111695014		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:25803620G>A	ENST00000406818.3	-	7	928	c.679C>T	c.(679-681)Ctc>Ttc	p.L227F	DTNB_ENST00000288642.8_Missense_Mutation_p.L227F|DTNB_ENST00000496972.2_Missense_Mutation_p.L170F|DTNB_ENST00000407661.3_Missense_Mutation_p.L227F|DTNB_ENST00000545439.1_Missense_Mutation_p.L23F|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000407038.3_Missense_Mutation_p.L227F|DTNB_ENST00000407186.1_Missense_Mutation_p.L227F|DTNB_ENST00000405222.1_Missense_Mutation_p.L227F|DTNB_ENST00000404103.3_Missense_Mutation_p.L227F	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	227						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGCATGAGAGGTAGCCAG	0.398																																						uc002rgh.2		NaN																	0				large_intestine(2)|ovary(2)	4						c.(679-681)CTC>TTC		dystrobrevin, beta isoform 1							104.0	113.0	110.0					2																	25803620		1901	4125	6026	SO:0001583	missense	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25803620G>A	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.679C>T	2.37:g.25803620G>A	ENSP00000384084:p.Leu227Phe					DTNB_uc010yko.1_Missense_Mutation_p.L170F|DTNB_uc010ykp.1_Missense_Mutation_p.L23F|DTNB_uc002rgo.2_Missense_Mutation_p.L48F|DTNB_uc002rgi.2_Missense_Mutation_p.L227F|DTNB_uc002rgj.2_Missense_Mutation_p.L227F|DTNB_uc002rgk.2_Missense_Mutation_p.L227F|DTNB_uc002rgl.2_Missense_Mutation_p.L227F|DTNB_uc002rgq.2_Missense_Mutation_p.L227F|DTNB_uc002rgm.2_Missense_Mutation_p.L227F|DTNB_uc002rgn.2_Missense_Mutation_p.L23F|DTNB_uc002rgr.1_Missense_Mutation_p.L216F|DTNB_uc010ykq.1_Missense_Mutation_p.L80F	p.L227F	NM_021907	NP_068707	O60941	DTNB_HUMAN			7	929	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		227					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	c.679C>T	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970973	0.92919	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439;ENST00000535791	T;T;T;T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	5.38	5.38	0.77491	EF-hand domain, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.88332	0.6408	M	0.86805	2.84	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.985;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.997;1.0;0.999;0.994;0.999;1.0;0.997;0.914;1.0;0.997;0.994;0.998	D	0.89940	0.4072	10	0.87932	D	0	-14.1543	18.0573	0.89367	0.0:0.0:1.0:0.0	.	227;23;170;227;227;170;227;227;227;227;227;227	E7EVB6;B7Z202;F5GZG4;O60941-3;B7Z6A9;B7Z733;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;.;.;.;.;DTNB_HUMAN	F	170;227;227;227;227;227;227;227;23;80	ENSP00000444463:L170F;ENSP00000384084:L227F;ENSP00000385482:L227F;ENSP00000385193:L227F;ENSP00000384767:L227F;ENSP00000384787:L227F;ENSP00000385784:L227F;ENSP00000288642:L227F;ENSP00000444961:L23F	ENSP00000288642:L227F	L	-	1	0	DTNB	25657124	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.677000	0.91161	0.491000	0.48974	CTC		0.398	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1		NM_033147		29	72	0	0	0	0.015359	0	29	72		
GCKR	2646	broad.mit.edu	37	2	27729747	27729747	+	Missense_Mutation	SNP	G	G	C	rs376157442		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:27729747G>C	ENST00000264717.2	+	12	1124	c.1061G>C	c.(1060-1062)gGt>gCt	p.G354A	GCKR_ENST00000424318.2_Missense_Mutation_p.G164A	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	354	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CACACCTTTGGTGCTGGTGGG	0.552																																						uc002rky.2		NaN																	0				ovary(2)	2						c.(1060-1062)GGT>GCT		glucokinase regulatory protein							137.0	116.0	123.0					2																	27729747		2203	4300	6503	SO:0001583	missense	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27729747G>C	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1061G>C	2.37:g.27729747G>C	ENSP00000264717:p.Gly354Ala					GCKR_uc010ezd.2_Splice_Site_p.D354_splice|GCKR_uc010ylu.1_Missense_Mutation_p.G164A	p.G354A	NM_001486	NP_001477	Q14397	GCKR_HUMAN			12	1127	+	Acute lymphoblastic leukemia(172;0.155)		354			SIS 2.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	ENST00000264717.2	37	c.1061G>C	CCDS1757.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.12|19.12	3.766159|3.766159	0.69878|0.69878	.|.	.|.	ENSG00000084734|ENSG00000084734	ENST00000264717;ENST00000424318|ENST00000411584	D;D|.	0.84370|.	-1.84;-1.84|.	4.75|4.75	3.86|3.86	0.44501|0.44501	Sugar isomerase (SIS) (1);|.	0.245352|.	0.33382|.	N|.	0.004970|.	T|T	0.53238|0.53238	0.1784|0.1784	L|L	0.58810|0.58810	1.83|1.83	0.36208|0.36208	D|D	0.851194|0.851194	P;D|.	0.56521|.	0.901;0.976|.	P;P|.	0.56474|.	0.475;0.799|.	T|T	0.59021|0.59021	-0.7532|-0.7532	10|5	0.52906|.	T|.	0.07|.	-3.8598|-3.8598	5.7688|5.7688	0.18241|0.18241	0.097:0.0:0.7083:0.1948|0.097:0.0:0.7083:0.1948	.|.	164;354|.	F5H1P6;Q14397|.	.;GCKR_HUMAN|.	A|L	354;164|55	ENSP00000264717:G354A;ENSP00000409109:G164A|.	ENSP00000264717:G354A|.	G|V	+|+	2|1	0|0	GCKR|GCKR	27583251|27583251	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.977000|0.977000	0.68977|0.68977	3.704000|3.704000	0.54815|0.54815	1.182000|1.182000	0.42928|0.42928	0.561000|0.561000	0.74099|0.74099	GGT|GTG		0.552	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1		NM_001486		48	109	0	0	0	0.01441	0	48	109		
CEBPZ	10153	broad.mit.edu	37	2	37449631	37449631	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:37449631C>G	ENST00000234170.5	-	4	2102	c.1957G>C	c.(1957-1959)Gaa>Caa	p.E653Q		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	653					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATCTCTGTTTCTTTGTCTGCA	0.343																																						uc002rpz.2		NaN																	0				pancreas(1)	1						c.(1957-1959)GAA>CAA		CCAAT/enhancer binding protein zeta							141.0	131.0	135.0					2																	37449631		2203	4300	6503	SO:0001583	missense	10153				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr2:37449631C>G	M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.1957G>C	2.37:g.37449631C>G	ENSP00000234170:p.Glu653Gln						p.E653Q	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN			4	1987	-		all_hematologic(82;0.21)	653					Q8NE75	Missense_Mutation	SNP	ENST00000234170.5	37	c.1957G>C	CCDS1787.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462333	0.43736	.	.	ENSG00000115816	ENST00000234170;ENST00000545744	T	0.16743	2.32	5.57	3.77	0.43336	Armadillo-type fold (1);CCAAT-binding factor (1);	0.414998	0.28964	N	0.013574	T	0.25082	0.0609	M	0.61703	1.905	0.27295	N	0.957743	P	0.39717	0.684	P	0.46049	0.502	T	0.07520	-1.0768	10	0.87932	D	0	.	9.9349	0.41545	0.0:0.7876:0.1381:0.0743	.	653	Q03701	CEBPZ_HUMAN	Q	653	ENSP00000234170:E653Q	ENSP00000234170:E653Q	E	-	1	0	CEBPZ	37303135	1.000000	0.71417	0.992000	0.48379	0.487000	0.33371	3.221000	0.51215	0.803000	0.34113	-0.142000	0.14014	GAA		0.343	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218569.2		NM_005760		13	40	0	0	0	0.00245	0	13	40		
PPM1B	5495	broad.mit.edu	37	2	44428664	44428664	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:44428664G>A	ENST00000282412.4	+	2	738	c.326G>A	c.(325-327)gGa>gAa	p.G109E	PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409432.3_Missense_Mutation_p.G109E|PPM1B_ENST00000409895.4_Missense_Mutation_p.G109E|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000378551.2_Missense_Mutation_p.G109E	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	109					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATCAGAACTGGATTTTTGAAA	0.403																																						uc002rtt.2		NaN																	0				kidney(1)|skin(1)	2						c.(325-327)GGA>GAA		protein phosphatase 1B isoform 1							100.0	101.0	101.0					2																	44428664		2203	4300	6503	SO:0001583	missense	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44428664G>A	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.326G>A	2.37:g.44428664G>A	ENSP00000282412:p.Gly109Glu					PPM1B_uc002rts.2_Missense_Mutation_p.G109E|PPM1B_uc002rtu.2_Missense_Mutation_p.G109E|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.G109E|PPM1B_uc002rtx.2_Missense_Mutation_p.G109E	p.G109E	NM_002706	NP_002697	O75688	PPM1B_HUMAN			2	754	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	109					Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	c.326G>A	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697495	0.88830	.	.	ENSG00000138032	ENST00000419807;ENST00000409895;ENST00000409432;ENST00000282412;ENST00000378551;ENST00000409473	T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18	5.71	5.71	0.89125	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	H	0.94886	3.595	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.999;1.0;0.997;0.991	D;D;D;D;P	0.91635	0.972;0.981;0.999;0.972;0.857	T	0.72040	-0.4410	10	0.72032	D	0.01	-11.9972	19.8632	0.96793	0.0:0.0:1.0:0.0	.	109;109;109;109;109	Q4J6C0;O75688-2;Q4J6C1;O75688;Q4J6C2	.;.;.;PPM1B_HUMAN;.	E	109	ENSP00000390087:G109E;ENSP00000387341:G109E;ENSP00000387287:G109E;ENSP00000282412:G109E;ENSP00000367813:G109E;ENSP00000386982:G109E	ENSP00000282412:G109E	G	+	2	0	PPM1B	44282168	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.699000	0.92147	0.655000	0.94253	GGA		0.403	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1		NM_002706		26	58	0	0	0	0.004656	0	26	58		
MDH1	4190	broad.mit.edu	37	2	63824624	63824624	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:63824624G>C	ENST00000233114.8	+	4	726	c.291G>C	c.(289-291)gaG>gaC	p.E97D	MDH1_ENST00000539945.1_Missense_Mutation_p.E115D|MDH1_ENST00000409908.1_Intron|MDH1_ENST00000544381.1_Missense_Mutation_p.E8D|MDH1_ENST00000409476.1_Intron|MDH1_ENST00000394423.1_Missense_Mutation_p.E97D	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	97					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	diiodophenylpyruvate reductase activity (GO:0047860)|L-malate dehydrogenase activity (GO:0030060)|malic enzyme activity (GO:0004470)|NAD binding (GO:0051287)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13						AAGGCATGGAGAGAAAAGATT	0.443																																						uc002scj.1		NaN																	0				kidney(2)	2						c.(289-291)GAG>GAC		cytosolic malate dehydrogenase	NADH(DB00157)						75.0	73.0	74.0					2																	63824624		2203	4300	6503	SO:0001583	missense	4190				gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity	g.chr2:63824624G>C		CCDS1874.1, CCDS56121.1, CCDS56122.1	2p23	2012-10-02			ENSG00000014641	ENSG00000014641	1.1.1.37		6970	protein-coding gene	gene with protein product		154200					Standard	NM_005917		Approved		uc010ypv.2	P40925	OTTHUMG00000129512	ENST00000233114.8:c.291G>C	2.37:g.63824624G>C	ENSP00000233114:p.Glu97Asp					MDH1_uc010ypv.1_Missense_Mutation_p.E115D|MDH1_uc010ypw.1_Missense_Mutation_p.E2D	p.E97D	NM_005917	NP_005908	P40925	MDHC_HUMAN			4	347	+			97					B2R5V5|B4DUN2|B7Z3I7|F5H098|Q6I9V0	Missense_Mutation	SNP	ENST00000233114.8	37	c.291G>C	CCDS1874.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177182	0.78564	.	.	ENSG00000014641	ENST00000233114;ENST00000436321;ENST00000454035;ENST00000432309;ENST00000539945;ENST00000544381;ENST00000394423	D;D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.28	2.51	0.30379	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90504	0.7025	M	0.86097	2.795	0.80722	D	1	P;P	0.51537	0.946;0.934	P;P	0.48840	0.592;0.589	D	0.88804	0.3287	10	0.87932	D	0	-12.8639	8.4774	0.33021	0.3681:0.0:0.6319:0.0	.	115;97	F5H098;P40925	.;MDHC_HUMAN	D	97;52;98;115;115;8;97	ENSP00000233114:E97D;ENSP00000394504:E52D;ENSP00000409027:E98D;ENSP00000410073:E115D;ENSP00000438144:E115D;ENSP00000446395:E8D;ENSP00000377945:E97D	ENSP00000233114:E97D	E	+	3	2	MDH1	63678128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.548000	0.53670	0.321000	0.23259	0.655000	0.94253	GAG		0.443	MDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251687.1				11	20	0	0	0	0.001855	0	11	20		
EMX1	2016	broad.mit.edu	37	2	73160999	73160999	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:73160999G>A	ENST00000258106.6	+	3	1167	c.789G>A	c.(787-789)aaG>aaA	p.K263K	EMX1_ENST00000394111.5_3'UTR	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	230					brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|in utero embryonic development (GO:0001701)|neuron projection extension (GO:1990138)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.K263K(1)		cervix(1)|large_intestine(2)|lung(3)	6						AGCAGAAGAAGAAGGGCTCCC	0.582																																						uc002sin.1		NaN																	1	Substitution - coding silent(1)		lung(1)		0						c.(787-789)AAG>AAA		empty spiracles homolog 1							72.0	83.0	79.0					2																	73160999		2123	4243	6366	SO:0001819	synonymous_variant	2016					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:73160999G>A	X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638		"""Homeoboxes / ANTP class : NKL subclass"""	3340	protein-coding gene	gene with protein product		600034	"""empty spiracles homolog 1 (Drosophila)"""			7959790	Standard	XM_005264203		Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000258106.6:c.789G>A	2.37:g.73160999G>A						EMX1_uc002sim.1_3'UTR	p.K263K	NM_004097	NP_004088	Q04741	EMX1_HUMAN			3	1167	+			230					Q0D2P0|Q53T30|Q86XB0	Silent	SNP	ENST00000258106.6	37	c.789G>A	CCDS1921.2																																																																																				0.582	EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251994.3				10	41	0	0	0	0.010729	0	10	41		
RAB11FIP5	26056	broad.mit.edu	37	2	73315235	73315235	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:73315235T>C	ENST00000258098.6	-	3	1751	c.1511A>G	c.(1510-1512)aAg>aGg	p.K504R	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	504					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						ACTCTTGGCCTTTTCCTCCCC	0.592																																						uc002siu.3		NaN																	0					0						c.(1510-1512)AAG>AGG		RAB11 family interacting protein 5 (class I)							69.0	75.0	73.0					2																	73315235		2203	4300	6503	SO:0001583	missense	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73315235T>C	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1511A>G	2.37:g.73315235T>C	ENSP00000258098:p.Lys504Arg					RAB11FIP5_uc002sit.3_Missense_Mutation_p.K426R	p.K504R	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			3	1752	-			504					O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	c.1511A>G	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	T	15.31	2.794748	0.50102	.	.	ENSG00000135631	ENST00000258098	T	0.45668	0.89	4.52	4.52	0.55395	.	0.059929	0.64402	D	0.000006	T	0.21962	0.0529	N	0.17082	0.46	0.32334	N	0.560704	B;B	0.31611	0.331;0.107	B;B	0.25884	0.064;0.039	T	0.23332	-1.0191	10	0.19590	T	0.45	-25.525	8.4912	0.33102	0.0:0.0931:0.0:0.9069	.	504;504	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	R	504	ENSP00000258098:K504R	ENSP00000258098:K504R	K	-	2	0	RAB11FIP5	73168743	0.979000	0.34478	1.000000	0.80357	0.982000	0.71751	1.739000	0.38217	2.043000	0.60533	0.402000	0.26972	AAG		0.592	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1		NM_015470		3	113	0	0	0	0.004672	0	3	113		
C2orf78	388960	broad.mit.edu	37	2	74043174	74043174	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:74043174G>C	ENST00000409561.1	+	3	1945	c.1824G>C	c.(1822-1824)aaG>aaC	p.K608N		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	608	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TGAAACGGAAGAAAAATCAAC	0.453																																						uc002sjr.1		NaN																	0				ovary(2)	2						c.(1822-1824)AAG>AAC		hypothetical protein LOC388960							88.0	84.0	85.0					2																	74043174		1854	4103	5957	SO:0001583	missense	388960							g.chr2:74043174G>C	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1824G>C	2.37:g.74043174G>C	ENSP00000387124:p.Lys608Asn						p.K608N	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			3	1945	+			608			Lys-rich.			Missense_Mutation	SNP	ENST00000409561.1	37	c.1824G>C	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	G	5.006	0.186840	0.09547	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	.	.	.	5.13	1.28	0.21552	.	0.233231	0.29892	N	0.010923	T	0.33990	0.0882	L	0.49350	1.555	0.09310	N	0.999993	B	0.24368	0.102	B	0.28139	0.086	T	0.28554	-1.0040	9	0.52906	T	0.07	-17.0802	6.8608	0.24066	0.3801:0.0:0.6199:0.0	.	608	A6NCI8	CB078_HUMAN	N	608;578	.	ENSP00000340692:K578N	K	+	3	2	C2orf78	73896682	0.979000	0.34478	0.110000	0.21437	0.016000	0.09150	0.809000	0.27168	0.282000	0.22254	-0.251000	0.11542	AAG		0.453	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1		NM_001080474		15	33	0	0	0	0.007413	0	15	33		
POLR1A	25885	broad.mit.edu	37	2	86305287	86305287	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:86305287C>T	ENST00000263857.6	-	10	1585	c.1207G>A	c.(1207-1209)Gat>Aat	p.D403N	POLR1A_ENST00000409681.1_Missense_Mutation_p.D403N			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	403					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						ATCTCGCTATCAAACACAATA	0.413																																						uc002sqs.2		NaN																	0				ovary(2)|skin(1)	3						c.(1207-1209)GAT>AAT		DNA-directed RNA polymerase I A							108.0	97.0	100.0					2																	86305287		1917	4140	6057	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86305287C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1207G>A	2.37:g.86305287C>T	ENSP00000263857:p.Asp403Asn					POLR1A_uc002sqv.2_Missense_Mutation_p.D403N	p.D403N	NM_015425	NP_056240	O95602	RPA1_HUMAN			10	1586	-			403					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.1207G>A	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039828	0.75732	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.74106	-0.81;-0.81	5.22	5.22	0.72569	RNA polymerase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89476	0.6726	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.97110	0.968;1.0	D	0.91620	0.5310	10	0.87932	D	0	-24.458	18.7637	0.91864	0.0:1.0:0.0:0.0	.	403;403	B9ZVN9;O95602	.;RPA1_HUMAN	N	403	ENSP00000263857:D403N;ENSP00000386300:D403N	ENSP00000263857:D403N	D	-	1	0	POLR1A	86158798	1.000000	0.71417	0.913000	0.36048	0.552000	0.35366	7.424000	0.80242	2.579000	0.87056	0.561000	0.74099	GAT		0.413	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2		NM_015425		18	47	0	0	0	0.007413	0	18	47		
KCNIP3	30818	broad.mit.edu	37	2	96047361	96047361	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:96047361C>T	ENST00000295225.5	+	6	600	c.465C>T	c.(463-465)ctC>ctT	p.L155L	KCNIP3_ENST00000468529.1_Silent_p.L129L|KCNIP3_ENST00000377181.2_3'UTR|KCNIP3_ENST00000360990.3_Silent_p.L133L	NM_013434.4	NP_038462.1	Q9Y2W7	CSEN_HUMAN	Kv channel interacting protein 3, calsenilin	155	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|behavioral response to pain (GO:0048266)|intracellular protein transport (GO:0006886)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	axon terminus (GO:0043679)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|voltage-gated ion channel activity (GO:0005244)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		TGGTTGGCCTCTCCATCCTGC	0.522																																						uc002sup.2		NaN																	0				breast(2)|ovary(1)	3						c.(463-465)CTC>CTT		Kv channel interacting protein 3 isoform 1							149.0	139.0	142.0					2																	96047361		2203	4300	6503	SO:0001819	synonymous_variant	30818				apoptosis|signal transduction|transcription, DNA-dependent	endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane	calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity	g.chr2:96047361C>T	AF199599	CCDS2013.1, CCDS33245.1	2q21.1	2013-01-10	2006-02-11	2006-02-11	ENSG00000115041	ENSG00000115041		"""EF-hand domain containing"""	15523	protein-coding gene	gene with protein product		604662	"""calsenilin, presenilin-binding protein, EF hand transcription factor"""	CSEN		9771752, 10078534	Standard	NM_013434		Approved	DREAM, KCHIP3, calsenilin	uc002sup.3	Q9Y2W7	OTTHUMG00000130392	ENST00000295225.5:c.465C>T	2.37:g.96047361C>T						KCNIP3_uc002suq.2_Silent_p.L129L	p.L155L	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN		READ - Rectum adenocarcinoma(193;0.13)	6	580	+			155			EF-hand 2.		H7BY46|Q3YAC3|Q3YAC4|Q53TJ5|Q96T40|Q9UJ84|Q9UJ85	Silent	SNP	ENST00000295225.5	37	c.465C>T	CCDS2013.1																																																																																				0.522	KCNIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252770.1		NM_013434		17	38	0	0	0	0.014323	0	17	38		
DUSP2	1844	broad.mit.edu	37	2	96809649	96809649	+	Silent	SNP	G	G	A	rs147952657	byFrequency	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:96809649G>A	ENST00000288943.4	-	4	943	c.858C>T	c.(856-858)ttC>ttT	p.F286F	AC012307.2_ENST00000449242.1_lincRNA	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	286	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				GCTGCTTAACGAAGTCAAAGG	0.617													g|||	2	0.000399361	0.0	0.0014	5008	,	,		18360	0.0		0.001	False		,,,				2504	0.0					uc002svk.3		NaN																	0				breast(1)	1						c.(856-858)TTC>TTT		dual specificity phosphatase 2				0,4406		0,0,2203	38.0	38.0	38.0		858	1.8	1.0	2	dbSNP_134	38	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	DUSP2	NM_004418.3		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		286/315	96809649	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	1844				endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity	g.chr2:96809649G>A	L11329	CCDS2016.1	2q11	2011-06-09			ENSG00000158050	ENSG00000158050		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3068	protein-coding gene	gene with protein product		603068				7806236, 7590752, 12673251	Standard	NM_004418		Approved	PAC-1	uc002svk.4	Q05923	OTTHUMG00000130456	ENST00000288943.4:c.858C>T	2.37:g.96809649G>A							p.F286F	NM_004418	NP_004409	Q05923	DUS2_HUMAN			4	944	-		Ovarian(717;0.0228)	286			Tyrosine-protein phosphatase.		Q53T45	Silent	SNP	ENST00000288943.4	37	c.858C>T	CCDS2016.1																																																																																				0.617	DUSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252847.1		NM_004418		10	22	0	0	0	0.013537	0	10	22		
PDCL3	79031	broad.mit.edu	37	2	101188178	101188178	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:101188178G>A	ENST00000264254.6	+	5	873	c.495G>A	c.(493-495)acG>acA	p.T165T		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	165	Thioredoxin fold. {ECO:0000250}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						ATCTGCCCACGATATTTGTTT	0.458																																						uc002tao.2		NaN																	0					0						c.(493-495)ACG>ACA		phosducin-like 3							119.0	130.0	126.0					2																	101188178		2203	4300	6503	SO:0001819	synonymous_variant	79031				apoptosis|interspecies interaction between organisms	cytoplasm	protein binding	g.chr2:101188178G>A	AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.495G>A	2.37:g.101188178G>A							p.T165T	NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN			5	607	+			165					B2RA00|Q53S68	Silent	SNP	ENST00000264254.6	37	c.495G>A	CCDS33261.1	.	.	.	.	.	.	.	.	.	.	.	7.045	0.563279	0.13498	.	.	ENSG00000115539	ENST00000450127	.	.	.	4.72	-9.44	0.00603	.	.	.	.	.	T	0.43144	0.1234	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53669	-0.8406	4	.	.	.	-0.9331	5.2339	0.15436	0.1998:0.1577:0.486:0.1565	.	.	.	.	Q	113	.	.	R	+	2	0	PDCL3	100554610	0.000000	0.05858	0.000000	0.03702	0.970000	0.65996	-1.641000	0.02007	-3.631000	0.00129	-0.145000	0.13849	CGA		0.458	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1		NM_024065		34	236	0	0	0	0.004878	0	34	236		
GCC2	9648	broad.mit.edu	37	2	109087226	109087226	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:109087226G>C	ENST00000309863.6	+	6	2155	c.1441G>C	c.(1441-1443)Gag>Cag	p.E481Q		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	481					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TTTAAATTATGAGAGTTTACG	0.333																																						uc002tec.2		NaN																	0				ovary(1)	1						c.(1441-1443)GAG>CAG		GRIP and coiled-coil domain-containing 2							43.0	45.0	45.0					2																	109087226		2202	4294	6496	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109087226G>C	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.1441G>C	2.37:g.109087226G>C	ENSP00000307939:p.Glu481Gln					GCC2_uc002ted.2_Missense_Mutation_p.E380Q	p.E481Q	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			6	1595	+			481			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.1441G>C	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676496	0.47886	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	T	0.34472	1.36	5.4	5.4	0.78164	.	0.136189	0.50627	D	0.000118	T	0.51669	0.1688	M	0.65975	2.015	0.39675	D	0.970812	D	0.71674	0.998	P	0.59761	0.863	T	0.44742	-0.9308	10	0.21014	T	0.42	.	14.7373	0.69424	0.0717:0.0:0.9283:0.0	.	481	Q8IWJ2	GCC2_HUMAN	Q	481;444;226	ENSP00000307939:E481Q	ENSP00000307939:E481Q	E	+	1	0	GCC2	108453658	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.889000	0.63171	2.684000	0.91462	0.650000	0.86243	GAG		0.333	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3		NM_014635		16	48	0	0	0	0.00499	0	16	48		
GCC2	9648	broad.mit.edu	37	2	109089346	109089346	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:109089346G>C	ENST00000309863.6	+	7	3565	c.2851G>C	c.(2851-2853)Gaa>Caa	p.E951Q		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	951					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AGAGTTGGAAGAAAAAATAGG	0.308																																						uc002tec.2		NaN																	0				ovary(1)	1						c.(2851-2853)GAA>CAA		GRIP and coiled-coil domain-containing 2							58.0	60.0	59.0					2																	109089346		2202	4298	6500	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109089346G>C	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2851G>C	2.37:g.109089346G>C	ENSP00000307939:p.Glu951Gln					GCC2_uc002ted.2_Missense_Mutation_p.E850Q	p.E951Q	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			7	3005	+			951			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.2851G>C	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662238	0.67700	.	.	ENSG00000135968	ENST00000309863;ENST00000409896	T	0.35789	1.29	4.95	4.95	0.65309	.	0.354847	0.29093	N	0.013170	T	0.44052	0.1275	L	0.60455	1.87	0.35144	D	0.769095	D	0.58268	0.982	P	0.52793	0.709	T	0.51834	-0.8655	10	0.32370	T	0.25	.	11.1964	0.48715	0.0838:0.0:0.9162:0.0	.	951	Q8IWJ2	GCC2_HUMAN	Q	951;914	ENSP00000307939:E951Q	ENSP00000307939:E951Q	E	+	1	0	GCC2	108455778	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	4.067000	0.57527	2.718000	0.92993	0.557000	0.71058	GAA		0.308	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3		NM_014635		9	22	0	0	0	0.004482	0	9	22		
SOWAHC	65124	broad.mit.edu	37	2	110373639	110373639	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:110373639G>C	ENST00000356454.3	+	1	1729	c.1573G>C	c.(1573-1575)Ggg>Cgg	p.G525R	SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000356688.4_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	525																	CAATGTATTTGGGTAAAAATT	0.448																																						uc002tfb.2		NaN																	0					0						c.(1573-1575)GGG>CGG		ankyrin repeat domain 57							18.0	19.0	19.0					2																	110373639		2202	4298	6500	SO:0001583	missense	65124							g.chr2:110373639G>C	AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"""Ankyrin repeat domain containing"""	26149	protein-coding gene	gene with protein product			"""ankyrin repeat domain 57"""	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.1573G>C	2.37:g.110373639G>C	ENSP00000365830:p.Gly525Arg					SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.2_5'Flank|SEPT10_uc002tex.2_5'Flank|SEPT10_uc002tey.2_5'Flank|SEPT10_uc010ywv.1_5'Flank	p.G525R	NM_023016	NP_075392	Q53LP3	ANR57_HUMAN			1	1729	+			525					Q8NE15|Q9H6U1	Missense_Mutation	SNP	ENST00000356454.3	37	c.1573G>C	CCDS33270.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796403	0.90453	.	.	ENSG00000198142	ENST00000356454	T	0.60171	0.21	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.67636	0.2914	L	0.32530	0.975	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.71454	-0.4588	10	0.87932	D	0	.	17.1119	0.86678	0.0:0.0:1.0:0.0	.	525	Q53LP3	ANR57_HUMAN	R	525	ENSP00000365830:G525R	ENSP00000365830:G525R	G	+	1	0	ANKRD57	109730928	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	6.869000	0.75521	2.508000	0.84585	0.561000	0.74099	GGG		0.448	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330168.1		NM_023016		14	18	0	0	0	0.00245	0	14	18		
ACOXL	55289	broad.mit.edu	37	2	111562905	111562905	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:111562905A>G	ENST00000389811.4	+	9	910	c.686A>G	c.(685-687)aAt>aGt	p.N229S	ACOXL_ENST00000439055.1_Missense_Mutation_p.N229S|ACOXL_ENST00000340561.4_Missense_Mutation_p.N229S			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	229					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GCAAGATTCAATGCCATGCTG	0.458																																						uc002tgr.3		NaN																	0					0						c.(685-687)AAT>AGT		acyl-Coenzyme A oxidase-like 2							155.0	136.0	143.0					2																	111562905		2203	4300	6503	SO:0001583	missense	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111562905A>G		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.686A>G	2.37:g.111562905A>G	ENSP00000374461:p.Asn229Ser					ACOXL_uc010fkc.2_Missense_Mutation_p.N229S|ACOXL_uc010yxk.1_Missense_Mutation_p.N229S	p.N229S	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN			9	910	+			229					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37	c.686A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.736|2.736	-0.263210|-0.263210	0.05754|0.05754	.|.	.|.	ENSG00000153093|ENSG00000153093	ENST00000433706|ENST00000389811;ENST00000439055;ENST00000422487;ENST00000340561;ENST00000417074	.|D;D;T;D	.|0.95949	.|-3.86;-3.86;-0.4;-3.86	5.96|5.96	3.61|3.61	0.41365|0.41365	.|Acyl-CoA dehydrogenase/oxidase C-terminal (1);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	.|0.109288	.|0.64402	.|N	.|0.000015	D|D	0.92309|0.92309	0.7560|0.7560	L|L	0.41492|0.41492	1.28|1.28	0.33217|0.33217	D|D	0.554185|0.554185	.|D;P;B	.|0.52996	.|0.957;0.897;0.03	.|P;B;B	.|0.47376	.|0.545;0.432;0.105	D|D	0.89330|0.89330	0.3646|0.3646	5|10	.|0.11182	.|T	.|0.66	-40.841|-40.841	10.9617|10.9617	0.47389|0.47389	0.8581:0.0:0.1419:0.0|0.8581:0.0:0.1419:0.0	.|.	.|229;229;229	.|E9PB20;Q9NUZ1-2;Q9NUZ1	.|.;.;ACOXL_HUMAN	V|S	4|229;229;80;229;67	.|ENSP00000374461:N229S;ENSP00000407761:N229S;ENSP00000343717:N229S;ENSP00000387832:N67S	.|ENSP00000343717:N229S	M|N	+|+	1|2	0|0	ACOXL|ACOXL	111279376|111279376	1.000000|1.000000	0.71417|0.71417	0.307000|0.307000	0.25127|0.25127	0.515000|0.515000	0.34225|0.34225	1.925000|1.925000	0.40074|0.40074	0.161000|0.161000	0.19458|0.19458	-1.139000|-1.139000	0.01908|0.01908	ATG|AAT		0.458	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2		NM_018308		30	85	0	0	0	0.008361	0	30	85		
DBI	1622	broad.mit.edu	37	2	120128357	120128357	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:120128357G>A	ENST00000355857.3	+	3	300	c.169G>A	c.(169-171)Gat>Aat	p.D57N	DBI_ENST00000535757.1_Missense_Mutation_p.D74N|DBI_ENST00000393103.2_Missense_Mutation_p.D58N|DBI_ENST00000409094.1_Missense_Mutation_p.D74N|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000311521.4_Missense_Mutation_p.D74N|DBI_ENST00000542275.1_Missense_Mutation_p.D118N|DBI_ENST00000535617.1_Missense_Mutation_p.D99N	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	57	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)			kidney(1)|lung(4)|skin(1)	6						GGCCAAGTGGGATGCCTGGAA	0.428																																						uc002tlv.2		NaN																	0					0						c.(169-171)GAT>AAT		diazepam binding inhibitor isoform 3							77.0	75.0	76.0					2																	120128357		2203	4300	6503	SO:0001583	missense	1622				transport		benzodiazepine receptor binding|fatty-acyl-CoA binding	g.chr2:120128357G>A	L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"""endozepine"""	125950	"""diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"""			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.169G>A	2.37:g.120128357G>A	ENSP00000348116:p.Asp57Asn					DBI_uc010yyh.1_Missense_Mutation_p.D74N|DBI_uc010yyi.1_Missense_Mutation_p.D74N|DBI_uc010yyj.1_RNA|DBI_uc010yyk.1_Missense_Mutation_p.D99N|DBI_uc010yyl.1_Missense_Mutation_p.D74N|DBI_uc010yym.1_Missense_Mutation_p.D67N|DBI_uc010yyn.1_Missense_Mutation_p.D74N|DBI_uc002tlw.2_Missense_Mutation_p.D74N|DBI_uc010yyo.1_RNA|DBI_uc002tlx.2_Missense_Mutation_p.D58N	p.D57N	NM_001079862	NP_001073331	P07108	ACBP_HUMAN			3	293	+			57			ACB.		B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Missense_Mutation	SNP	ENST00000355857.3	37	c.169G>A	CCDS42740.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059889	0.93846	.	.	ENSG00000155368	ENST00000355857;ENST00000535617;ENST00000535757;ENST00000409094;ENST00000311521;ENST00000542275;ENST00000393103	T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25	5.09	5.09	0.68999	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (4);	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	M	0.74881	2.28	0.80722	D	1	B;D;P;B;B	0.89917	0.215;1.0;0.917;0.368;0.319	B;D;P;B;B	0.91635	0.261;0.999;0.584;0.329;0.314	T	0.29058	-1.0024	10	0.66056	D	0.02	-3.5923	16.3832	0.83489	0.0:0.0:1.0:0.0	.	67;99;58;74;57	B8ZWD1;B8ZWD7;P07108-3;B8ZWD2;P07108	.;.;.;.;ACBP_HUMAN	N	57;99;74;74;74;118;58	ENSP00000348116:D57N;ENSP00000442917:D99N;ENSP00000439012:D74N;ENSP00000386486:D74N;ENSP00000311117:D74N;ENSP00000440698:D118N;ENSP00000376815:D58N	ENSP00000311117:D74N	D	+	1	0	DBI	119844827	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.332000	0.90024	2.804000	0.96469	0.655000	0.94253	GAT		0.428	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330590.1		NM_020548		5	34	0	0	0	0.00308	0	5	34		
SCTR	6344	broad.mit.edu	37	2	120204358	120204358	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:120204358C>G	ENST00000019103.5	-	11	1384	c.1117G>C	c.(1117-1119)Gaa>Caa	p.E373Q		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	373					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGGGCTAGTTCAAAAAACAGC	0.547																																						uc002tma.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1117-1119)GAA>CAA		secretin receptor precursor	Secretin(DB00021)						94.0	92.0	93.0					2																	120204358		2203	4300	6503	SO:0001583	missense	6344				digestion|excretion	integral to plasma membrane	secretin receptor activity	g.chr2:120204358C>G		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.1117G>C	2.37:g.120204358C>G	ENSP00000019103:p.Glu373Gln					SCTR_uc002tlz.2_Missense_Mutation_p.E195Q	p.E373Q	NM_002980	NP_002971	P47872	SCTR_HUMAN			11	1343	-			373			Helical; Name=7; (Potential).		Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	c.1117G>C	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259847	0.95368	.	.	ENSG00000080293	ENST00000019103	T	0.36699	1.24	5.34	5.34	0.76211	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000009	T	0.63402	0.2508	M	0.78456	2.415	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.66436	-0.5924	10	0.87932	D	0	.	18.2135	0.89878	0.0:1.0:0.0:0.0	.	373	P47872	SCTR_HUMAN	Q	373	ENSP00000019103:E373Q	ENSP00000019103:E373Q	E	-	1	0	SCTR	119920828	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	7.567000	0.82357	2.776000	0.95493	0.655000	0.94253	GAA		0.547	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2				21	57	0	0	0	0.010504	0	21	57		
CFAP221	200373	broad.mit.edu	37	2	120413951	120413951	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:120413951C>G	ENST00000413369.3	+	24	2515	c.2428C>G	c.(2428-2430)Caa>Gaa	p.Q810E	PCDP1_ENST00000602047.1_Missense_Mutation_p.Q524E	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					AGTGAAAGATCAAGCACAACC	0.488																																						uc002tmb.2		NaN																	0					0						c.(1570-1572)CAA>GAA		primary ciliary dyskinesia protein 1							82.0	82.0	82.0					2																	120413951		2203	4300	6503	SO:0001583	missense	200373					cilium	calmodulin binding	g.chr2:120413951C>G																												ENST00000413369.3:c.2428C>G	2.37:g.120413951C>G	ENSP00000393222:p.Gln810Glu						p.Q524E	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN			25	2662	+	Colorectal(110;0.196)		810						Missense_Mutation	SNP	ENST00000413369.3	37	c.1570C>G	CCDS33282.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.954|4.954	0.177168|0.177168	0.09443|0.09443	.|.	.|.	ENSG00000163075|ENSG00000163075	ENST00000443972|ENST00000295220;ENST00000413369	.|T	.|0.29397	.|1.57	4.68|4.68	3.79|3.79	0.43588|0.43588	.|.	.|0.225625	.|0.31335	.|N	.|0.007836	T|T	0.18257|0.18257	0.0438|0.0438	N|N	0.19112|0.19112	0.55|0.55	0.54753|0.54753	D|D	0.999987|0.999987	.|B	.|0.16603	.|0.018	.|B	.|0.18263	.|0.021	T|T	0.05801|0.05801	-1.0863|-1.0863	5|10	.|0.25106	.|T	.|0.35	-6.8865|-6.8865	9.3248|9.3248	0.37986|0.37986	0.0:0.8999:0.0:0.1001|0.0:0.8999:0.0:0.1001	.|.	.|810	.|Q4G0U5	.|PCDP1_HUMAN	M|E	368|524;810	.|ENSP00000393222:Q810E	.|ENSP00000295220:Q524E	I|Q	+|+	3|1	3|0	AC069154.2|AC069154.2	120130421|120130421	0.058000|0.058000	0.20735|0.20735	0.278000|0.278000	0.24718|0.24718	0.084000|0.084000	0.17831|0.17831	0.622000|0.622000	0.24433|0.24433	1.299000|1.299000	0.44798|0.44798	0.563000|0.563000	0.77884|0.77884	ATC|CAA		0.488	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1				6	20	0	0	0	0.00308	0	6	20		
TMEM177	80775	broad.mit.edu	37	2	120439083	120439083	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:120439083C>T	ENST00000424086.1	+	2	1127	c.654C>T	c.(652-654)ttC>ttT	p.F218F	TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000401466.1_Silent_p.F218F|TMEM177_ENST00000272521.6_Silent_p.F218F|TMEM177_ENST00000496203.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	218						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CCTACGCCTTCTCCCAGGATT	0.612																																						uc010flg.1		NaN																	0				ovary(1)	1						c.(652-654)TTC>TTT		transmembrane protein 177							57.0	57.0	57.0					2																	120439083		2203	4300	6503	SO:0001819	synonymous_variant	80775					integral to membrane		g.chr2:120439083C>T	BC004404	CCDS2128.1	2q14.2	2008-02-05			ENSG00000144120	ENSG00000144120			28143	protein-coding gene	gene with protein product						12477932	Standard	NM_001105198		Approved	MGC10993	uc002tmc.1	Q53S58	OTTHUMG00000153312	ENST00000424086.1:c.654C>T	2.37:g.120439083C>T						TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Silent_p.F218F|TMEM177_uc002tmd.2_Silent_p.F218F|TMEM177_uc010flh.2_Intron	p.F218F	NM_001105198	NP_001098668	Q53S58	TM177_HUMAN			2	1127	+	Colorectal(110;0.196)		218			Helical; (Potential).		Q9BT20	Silent	SNP	ENST00000424086.1	37	c.654C>T	CCDS2128.1																																																																																				0.612	TMEM177-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330673.1		NM_030577		13	50	0	0	0	0.003163	0	13	50		
ARHGAP15	55843	broad.mit.edu	37	2	143913219	143913219	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:143913219G>A	ENST00000295095.6	+	2	327	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.E54K	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	54					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GAAGGTCACTGAACCTGTAAG	0.393																																						uc002tvm.3		NaN																	0				ovary(1)|skin(1)	2						c.(160-162)GAA>AAA		ARHGAP15							98.0	91.0	93.0					2																	143913219		2203	4300	6503	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143913219G>A	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.160G>A	2.37:g.143913219G>A	ENSP00000295095:p.Glu54Lys					ARHGAP15_uc010zbl.1_Missense_Mutation_p.E54K	p.E54K	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	2	311	+			54					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.160G>A	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993188	0.54041	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T	0.07688	3.17	6.07	6.07	0.98685	.	0.210914	0.48767	D	0.000161	T	0.04815	0.0130	N	0.11201	0.11	0.37988	D	0.93383	B;B	0.17038	0.02;0.004	B;B	0.15052	0.012;0.003	T	0.41179	-0.9523	10	0.09084	T	0.74	.	13.7909	0.63140	0.0695:0.0:0.9305:0.0	.	54;54	B4E0R3;Q53QZ3	.;RHG15_HUMAN	K	54	ENSP00000295095:E54K	ENSP00000295095:E54K	E	+	1	0	ARHGAP15	143629689	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.925000	0.63425	2.884000	0.98904	0.655000	0.94253	GAA		0.393	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2		NM_018460		19	58	0	0	0	0.012319	0	19	58		
MBD5	55777	broad.mit.edu	37	2	149248116	149248116	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:149248116G>C	ENST00000407073.1	+	12	5213	c.4216G>C	c.(4216-4218)Gaa>Caa	p.E1406Q	MBD5_ENST00000404807.1_Missense_Mutation_p.E1639Q	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1406	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATTAGTAAGAGAAGACGACGT	0.403																																						uc002twm.3		NaN																	0				skin(3)|ovary(2)	5						c.(4216-4218)GAA>CAA		methyl-CpG binding domain protein 5							75.0	73.0	74.0					2																	149248116		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149248116G>C	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.4216G>C	2.37:g.149248116G>C	ENSP00000386049:p.Glu1406Gln					MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.E1406Q|MBD5_uc002two.2_Missense_Mutation_p.E664Q|MBD5_uc002twp.2_Missense_Mutation_p.E456Q	p.E1406Q	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	12	5204	+			1406			PWWP.		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.4216G>C	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790003	0.50102	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.70282	-0.47;-0.47	5.81	5.81	0.92471	PWWP (1);	0.000000	0.64402	D	0.000012	T	0.78997	0.4372	L	0.47716	1.5	0.41937	D	0.990591	D;D	0.56968	0.978;0.978	P;P	0.58721	0.844;0.719	T	0.79434	-0.1805	10	0.62326	D	0.03	-9.1386	20.0628	0.97684	0.0:0.0:1.0:0.0	.	1639;1406	E9PHH0;Q9P267	.;MBD5_HUMAN	Q	1406;1639	ENSP00000386049:E1406Q;ENSP00000384672:E1639Q	ENSP00000384672:E1639Q	E	+	1	0	MBD5	148964586	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.195000	0.94971	2.745000	0.94114	0.655000	0.94253	GAA		0.403	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2				10	33	0	0	0	0.008291	0	10	33		
RBM43	375287	broad.mit.edu	37	2	152112060	152112060	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:152112060G>C	ENST00000331426.5	-	2	352	c.201C>G	c.(199-201)ttC>ttG	p.F67L		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	67	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TTTTTTCTTTGAATATTACAT	0.294																																						uc002txh.2		NaN																	0					0						c.(199-201)TTC>TTG		RNA binding motif protein 43							93.0	99.0	97.0					2																	152112060		2203	4300	6503	SO:0001583	missense	375287						nucleotide binding|RNA binding	g.chr2:152112060G>C	AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.201C>G	2.37:g.152112060G>C	ENSP00000331211:p.Phe67Leu						p.F67L	NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	2	349	-			67			RRM.		B2RMT5	Missense_Mutation	SNP	ENST00000331426.5	37	c.201C>G	CCDS2191.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425037	0.62733	.	.	ENSG00000184898	ENST00000331426	T	0.44881	0.91	4.57	3.69	0.42338	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.072710	0.53938	D	0.000041	T	0.45756	0.1358	L	0.36672	1.1	0.80722	D	1	D	0.61080	0.989	P	0.58391	0.838	T	0.43893	-0.9363	10	0.87932	D	0	-6.7128	8.5506	0.33449	0.1851:0.0:0.8149:0.0	.	67	Q6ZSC3	RBM43_HUMAN	L	67	ENSP00000331211:F67L	ENSP00000331211:F67L	F	-	3	2	RBM43	151820306	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	1.117000	0.31234	1.157000	0.42530	0.467000	0.42956	TTC		0.294	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2		NM_198557		6	86	0	0	0	0.001984	0	6	86		
FAP	2191	broad.mit.edu	37	2	163030297	163030297	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:163030297G>A	ENST00000188790.4	-	23	2177	c.1970C>T	c.(1969-1971)gCg>gTg	p.A657V	FAP_ENST00000443424.1_Splice_Site_p.A632V|AC007750.5_ENST00000418968.3_RNA	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GTAGACAGACGCTATAAAATA	0.318																																						uc002ucd.2		NaN																	0				ovary(3)	3						c.(1969-1971)GCG>GTG		fibroblast activation protein, alpha subunit							125.0	135.0	132.0					2																	163030297		2203	4299	6502	SO:0001630	splice_region_variant	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163030297G>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1970-1C>T	2.37:g.163030297G>A						FAP_uc010fpc.2_Missense_Mutation_p.A206V|FAP_uc010zct.1_Missense_Mutation_p.A632V|FAP_uc010fpd.2_Missense_Mutation_p.A136V	p.A657V	NM_004460	NP_004451	Q12884	SEPR_HUMAN			23	2178	-			657			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000188790.4	37	c.1970C>T	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933328	0.52866	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.29655	1.56;1.56	5.1	5.1	0.69264	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.060657	0.64402	D	0.000002	T	0.45597	0.1350	M	0.64170	1.965	0.58432	D	0.999992	D;P;D	0.63046	0.957;0.879;0.992	P;B;P	0.52598	0.703;0.099;0.603	T	0.35001	-0.9806	9	.	.	.	.	18.8718	0.92319	0.0:0.0:1.0:0.0	.	632;136;657	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	V	657;632	ENSP00000188790:A657V;ENSP00000411391:A632V	.	A	-	2	0	FAP	162738543	1.000000	0.71417	0.996000	0.52242	0.731000	0.41821	4.928000	0.63447	2.544000	0.85801	0.655000	0.94253	GCG		0.318	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			Missense_Mutation	40	130	0	0	0	0.01441	0	40	130		
TTN	7273	broad.mit.edu	37	2	179395756	179395756	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:179395756C>T	ENST00000591111.1	-	308	100887	c.100663G>A	c.(100663-100665)Gag>Aag	p.E33555K	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E26323K|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E32628K|TTN_ENST00000359218.5_Missense_Mutation_p.E26256K|TTN_ENST00000460472.2_Missense_Mutation_p.E26131K|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E35196K|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33555	Ig-like 147.				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)			TAATTGCCCTCATCGGAAGCC	0.478																																						uc010zfg.1		NaN																	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.(97882-97884)GAG>AAG		titin isoform N2-A							274.0	264.0	267.0					2																	179395756		1959	4135	6094	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179395756C>T	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.100663G>A	2.37:g.179395756C>T	ENSP00000465570:p.Glu33555Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E26323K|TTN_uc010zfi.1_Missense_Mutation_p.E26256K|TTN_uc010zfj.1_Missense_Mutation_p.E26131K|TTN_uc002umq.2_5'Flank	p.E32628K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	98106	-			33555					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.97882G>A		.	.	.	.	.	.	.	.	.	.	C	16.60	3.168437	0.57584	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	4.85	4.85	0.62838	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79417	0.4442	M	0.70108	2.13	0.53005	D	0.999965	D;D;D;D	0.61080	0.989;0.989;0.989;0.972	P;P;P;P	0.60173	0.87;0.87;0.87;0.82	T	0.82725	-0.0315	9	0.87932	D	0	.	17.9739	0.89121	0.0:1.0:0.0:0.0	.	26131;26256;26323;33555	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	32628;26131;26323;26256;26128	ENSP00000343764:E32628K;ENSP00000434586:E26131K;ENSP00000340554:E26323K;ENSP00000352154:E26256K	ENSP00000340554:E26323K	E	-	1	0	TTN	179104002	1.000000	0.71417	0.998000	0.56505	0.128000	0.20619	7.818000	0.86416	2.233000	0.73108	0.455000	0.32223	GAG		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		93	261	0	0	0	0.01441	0	93	261		
TTN	7273	broad.mit.edu	37	2	179421783	179421783	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:179421783C>G	ENST00000591111.1	-	280	83399	c.83175G>C	c.(83173-83175)aaG>aaC	p.K27725N	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K20493N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K26798N|TTN_ENST00000359218.5_Missense_Mutation_p.K20426N|TTN_ENST00000460472.2_Missense_Mutation_p.K20301N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K29366N|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27725	Fibronectin type-III 102. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			AGCCTGTAATCTTGCTACCTC	0.443																																						uc010zfg.1		NaN																	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.(80392-80394)AAG>AAC		titin isoform N2-A							76.0	75.0	75.0					2																	179421783		1955	4146	6101	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179421783C>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.83175G>C	2.37:g.179421783C>G	ENSP00000465570:p.Lys27725Asn					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K20493N|TTN_uc010zfi.1_Missense_Mutation_p.K20426N|TTN_uc010zfj.1_Missense_Mutation_p.K20301N	p.K26798N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		279	80618	-			27725					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.80394G>C		.	.	.	.	.	.	.	.	.	.	C	12.12	1.842335	0.32513	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.81	4.93	0.64822	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44095	0.1277	L	0.50993	1.605	0.44668	D	0.997657	B;B;B;B	0.31459	0.324;0.324;0.324;0.324	B;B;B;B	0.39805	0.211;0.211;0.211;0.31	T	0.47315	-0.9127	9	0.87932	D	0	.	11.5739	0.50850	0.0:0.8131:0.0:0.1869	.	20301;20426;20493;27725	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	26798;20301;20493;20426;20298	ENSP00000343764:K26798N;ENSP00000434586:K20301N;ENSP00000340554:K20493N;ENSP00000352154:K20426N	ENSP00000340554:K20493N	K	-	3	2	TTN	179130029	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	0.948000	0.29096	1.602000	0.50124	-0.140000	0.14226	AAG		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		10	18	0	0	0	0.013537	0	10	18		
ZNF804A	91752	broad.mit.edu	37	2	185802674	185802674	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:185802674G>A	ENST00000302277.6	+	4	3145	c.2551G>A	c.(2551-2553)Gaa>Aaa	p.E851K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	851							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						GTTAATAAGTGAAGACAAAAA	0.348																																						uc002uph.2		NaN																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(2551-2553)GAA>AAA		zinc finger protein 804A							60.0	60.0	60.0					2																	185802674		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802674G>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.2551G>A	2.37:g.185802674G>A	ENSP00000303252:p.Glu851Lys						p.E851K	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3145	+			851					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2551G>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	3.974	-0.007786	0.07773	.	.	ENSG00000170396	ENST00000302277	T	0.07327	3.2	5.57	1.31	0.21738	.	0.724143	0.12683	N	0.447819	T	0.05273	0.0140	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.38972	-0.9636	10	0.37606	T	0.19	-2.3236	3.5478	0.07835	0.2111:0.1509:0.5333:0.1046	.	851	Q7Z570	Z804A_HUMAN	K	851	ENSP00000303252:E851K	ENSP00000303252:E851K	E	+	1	0	ZNF804A	185510919	0.195000	0.23338	0.004000	0.12327	0.031000	0.12232	0.526000	0.22971	0.305000	0.22832	0.591000	0.81541	GAA		0.348	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1		NM_194250		9	31	0	0	0	0.008291	0	9	31		
CALCRL	10203	broad.mit.edu	37	2	188228182	188228182	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:188228182G>A	ENST00000409998.1	-	10	1329	c.548C>T	c.(547-549)tCa>tTa	p.S183L	AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.S183L|CALCRL_ENST00000392370.3_Missense_Mutation_p.S183L			Q16602	CALRL_HUMAN	calcitonin receptor-like	183					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ACAAACAAATGAGAAGAACAG	0.368																																						uc002upv.3		NaN																	0				lung(3)|ovary(1)	4						c.(547-549)TCA>TTA		calcitonin receptor-like precursor							111.0	106.0	107.0					2																	188228182		2203	4300	6503	SO:0001583	missense	10203					integral to plasma membrane		g.chr2:188228182G>A	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.548C>T	2.37:g.188228182G>A	ENSP00000386972:p.Ser183Leu					CALCRL_uc010frt.2_Missense_Mutation_p.S183L	p.S183L	NM_005795	NP_005786	Q16602	CALRL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		9	1096	-			183			Helical; Name=2; (Potential).		A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	c.548C>T	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	G	34	5.310185	0.95629	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.54866	0.55;0.55;0.55	5.29	5.29	0.74685	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000006	T	0.81375	0.4809	H	0.95611	3.695	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.86931	0.2073	10	0.87932	D	0	.	18.2864	0.90115	0.0:0.0:1.0:0.0	.	183	Q16602	CALRL_HUMAN	L	183	ENSP00000376177:S183L;ENSP00000386972:S183L;ENSP00000387190:S183L	ENSP00000376177:S183L	S	-	2	0	CALCRL	187936427	1.000000	0.71417	0.994000	0.49952	0.945000	0.59286	9.813000	0.99286	2.643000	0.89663	0.655000	0.94253	TCA		0.368	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1		NM_005795		17	42	0	0	0	0.007413	0	17	42		
DNAH7	56171	broad.mit.edu	37	2	196673469	196673469	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:196673469G>C	ENST00000312428.6	-	53	10120	c.10020C>G	c.(10018-10020)ttC>ttG	p.F3340L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3340					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAATGGTTTTGAAGGCAGGCA	0.388																																						uc002utj.3		NaN																	0				skin(10)|ovary(2)	12						c.(10018-10020)TTC>TTG		dynein, axonemal, heavy chain 7							149.0	138.0	141.0					2																	196673469		1865	4095	5960	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196673469G>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10020C>G	2.37:g.196673469G>C	ENSP00000311273:p.Phe3340Leu						p.F3340L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			53	10121	-			3340					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.10020C>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886191	0.33348	.	.	ENSG00000118997	ENST00000312428	T	0.10382	2.88	5.65	1.86	0.25419	Dynein heavy chain (1);	2.797130	0.00822	N	0.001591	T	0.37237	0.0996	M	0.84585	2.705	0.80722	D	1	D	0.56746	0.977	D	0.63192	0.912	T	0.04115	-1.0976	10	0.33141	T	0.24	.	10.7901	0.46428	0.2575:0.0:0.7425:0.0	.	3340	Q8WXX0	DYH7_HUMAN	L	3340	ENSP00000311273:F3340L	ENSP00000311273:F3340L	F	-	3	2	DNAH7	196381714	0.997000	0.39634	0.477000	0.27303	0.751000	0.42716	1.071000	0.30666	0.058000	0.16222	-1.008000	0.02478	TTC		0.388	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3		NM_018897		38	94	0	0	0	0.01441	0	38	94		
SPATS2L	26010	broad.mit.edu	37	2	201305422	201305422	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:201305422C>T	ENST00000358677.5	+	8	950	c.703C>T	c.(703-705)Cta>Tta	p.L235L	SPATS2L_ENST00000409385.1_Silent_p.L175L|SPATS2L_ENST00000409988.3_Silent_p.L235L|SPATS2L_ENST00000409755.3_Silent_p.L265L|SPATS2L_ENST00000409151.1_Silent_p.L243L|SPATS2L_ENST00000409718.1_Silent_p.L235L|SPATS2L_ENST00000451764.2_Silent_p.L235L|SPATS2L_ENST00000409140.3_Silent_p.L235L|SPATS2L_ENST00000360760.5_Silent_p.L166L	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	235						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CACCGTTTCTCTAACTAGATA	0.373																																						uc002uvn.3		NaN																	0				ovary(2)|pancreas(1)	3						c.(703-705)CTA>TTA		SPATS2-like protein isoform a							92.0	88.0	89.0					2																	201305422		1913	4126	6039	SO:0001819	synonymous_variant	26010					cytoplasm|nucleolus		g.chr2:201305422C>T	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.703C>T	2.37:g.201305422C>T						SPATS2L_uc010fst.2_Silent_p.L235L|SPATS2L_uc002uvo.3_Silent_p.L175L|SPATS2L_uc002uvp.3_Silent_p.L235L|SPATS2L_uc002uvq.3_Silent_p.L166L|SPATS2L_uc002uvr.3_Silent_p.L235L|SPATS2L_uc010zhc.1_Silent_p.L265L	p.L235L	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN			8	1055	+			235					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Silent	SNP	ENST00000358677.5	37	c.703C>T	CCDS46483.1																																																																																				0.373	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3		NM_015535		21	38	0	0	0	0.010504	0	21	38		
CASP8	841	broad.mit.edu	37	2	202149751	202149751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:202149751C>T	ENST00000432109.2	+	9	1204	c.1015C>T	c.(1015-1017)Cag>Tag	p.Q339*	CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q324*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000358485.4_Nonsense_Mutation_p.Q398*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q255*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q356*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	339					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.Q356*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCTGACATCTCAGTTCACTGG	0.478										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NaN																	1	Substitution - Nonsense(1)		breast(1)	upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(1015-1017)CAG>TAG		caspase 8 isoform B precursor							137.0	122.0	127.0					2																	202149751		2203	4300	6503	SO:0001587	stop_gained	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202149751C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1015C>T	2.37:g.202149751C>T	ENSP00000412523:p.Gln339*	HNSCC(4;0.00038)				CASP8_uc002uxp.1_Nonsense_Mutation_p.Q356*|CASP8_uc002uxq.1_Nonsense_Mutation_p.Q324*|CASP8_uc002uxt.1_Nonsense_Mutation_p.Q398*|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Nonsense_Mutation_p.Q324*|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Nonsense_Mutation_p.Q255*	p.Q339*	NM_033355	NP_203519	Q14790	CASP8_HUMAN			9	1224	+			339					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	37	c.1015C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854178	0.91355	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.68	4.54	0.55810	.	0.380203	0.30556	N	0.009380	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	10.8752	0.46906	0.0:0.075:0.0:0.925	.	.	.	.	X	324;255;339;356;398;324;118	.	ENSP00000264274:Q255X	Q	+	1	0	CASP8	201857996	0.217000	0.23597	1.000000	0.80357	0.645000	0.38454	3.232000	0.51302	1.004000	0.39156	-0.367000	0.07326	CAG		0.478	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2		NM_001228		38	109	0	0	0	0.010771	0	38	109		
ALS2CR12	130540	broad.mit.edu	37	2	202163981	202163981	+	Missense_Mutation	SNP	C	C	T	rs150075649		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:202163981C>T	ENST00000286190.5	-	11	968	c.922G>A	c.(922-924)Gag>Aag	p.E308K	ALS2CR12_ENST00000439709.1_Missense_Mutation_p.E308K|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.E308K|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.E308K			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	308					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TTTCTCAGCTCTTCTAATTGC	0.368																																						uc010ftg.2		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(922-924)GAG>AAG		amyotrophic lateral sclerosis 2 (juvenile)							214.0	209.0	211.0					2																	202163981		2203	4300	6503	SO:0001583	missense	130540				regulation of GTPase activity		protein binding	g.chr2:202163981C>T	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.922G>A	2.37:g.202163981C>T	ENSP00000286190:p.Glu308Lys					ALS2CR12_uc002uya.3_Missense_Mutation_p.E308K|ALS2CR12_uc010fth.2_RNA	p.E308K	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN			12	1366	-			308			Potential.		G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	ENST00000286190.5	37	c.922G>A	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623502	0.28889	.	.	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.52	3.65	0.41850	.	0.000000	0.51477	D	0.000089	T	0.29914	0.0748	N	0.20986	0.625	0.29561	N	0.850606	B;B	0.18461	0.028;0.028	B;B	0.28916	0.096;0.096	T	0.25984	-1.0116	10	0.52906	T	0.07	-20.5551	8.8191	0.35014	0.0:0.896:0.0:0.104	.	308;308	Q96Q35;G5E9S3	AL2SB_HUMAN;.	K	308	ENSP00000286190:E308K;ENSP00000385098:E308K;ENSP00000376086:E308K;ENSP00000412073:E308K	ENSP00000286190:E308K	E	-	1	0	ALS2CR12	201872226	0.958000	0.32768	0.997000	0.53966	0.490000	0.33462	0.638000	0.24674	1.255000	0.44051	-0.244000	0.11960	GAG		0.368	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1		NM_139163		25	67	0	0	0	0.005443	0	25	67		
ALS2CR12	130540	broad.mit.edu	37	2	202164015	202164015	+	Missense_Mutation	SNP	C	C	G	rs369249173		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:202164015C>G	ENST00000286190.5	-	11	934	c.888G>C	c.(886-888)ttG>ttC	p.L296F	ALS2CR12_ENST00000439709.1_Missense_Mutation_p.L296F|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.L296F|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.L296F			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	296					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						GATGTTGTTTCAAGAGCTCCT	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18000	0.0		0.0	False		,,,				2504	0.0					uc010ftg.2		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(886-888)TTG>TTC		amyotrophic lateral sclerosis 2 (juvenile)		C	PHE/LEU,PHE/LEU	3,4403	6.2+/-15.9	0,3,2200	192.0	188.0	189.0		888,888	1.7	1.0	2		189	0,8600		0,0,4300	no	missense,missense	ALS2CR12	NM_001127391.1,NM_139163.2	22,22	0,3,6500	GG,GC,CC		0.0,0.0681,0.0231	probably-damaging,probably-damaging	296/423,296/446	202164015	3,13003	2203	4300	6503	SO:0001583	missense	130540				regulation of GTPase activity		protein binding	g.chr2:202164015C>G	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.888G>C	2.37:g.202164015C>G	ENSP00000286190:p.Leu296Phe					ALS2CR12_uc002uya.3_Missense_Mutation_p.L296F|ALS2CR12_uc010fth.2_RNA	p.L296F	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN			12	1332	-			296			Potential.		G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	ENST00000286190.5	37	c.888G>C	CCDS2346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.27|16.27	3.075923|3.075923	0.55646|0.55646	6.81E-4|6.81E-4	0.0|0.0	ENSG00000155749|ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709|ENST00000415745	T;T;T;T|.	0.42900|.	0.96;0.96;0.96;0.96|.	4.52|4.52	1.68|1.68	0.24146|0.24146	.|.	0.872602|.	0.09494|.	N|.	0.794578|.	T|.	0.30355|.	0.0762|.	L|L	0.29908|0.29908	0.895|0.895	0.28014|0.28014	N|N	0.934791|0.934791	D;P|.	0.57571|.	0.98;0.944|.	P;P|.	0.56042|.	0.79;0.733|.	T|.	0.24977|.	-1.0145|.	10|.	0.09590|.	T|.	0.72|.	-0.0867|-0.0867	6.2742|6.2742	0.20971|0.20971	0.0:0.6708:0.0:0.3292|0.0:0.6708:0.0:0.3292	.|.	296;296|.	Q96Q35;G5E9S3|.	AL2SB_HUMAN;.|.	F|S	296|71	ENSP00000286190:L296F;ENSP00000385098:L296F;ENSP00000376086:L296F;ENSP00000412073:L296F|.	ENSP00000286190:L296F|.	L|X	-|-	3|2	2|2	ALS2CR12|ALS2CR12	201872260|201872260	0.254000|0.254000	0.23992|0.23992	0.978000|0.978000	0.43139|0.43139	0.978000|0.978000	0.69477|0.69477	-0.520000|-0.520000	0.06252|0.06252	0.232000|0.232000	0.21100|0.21100	0.563000|0.563000	0.77884|0.77884	TTG|TGA		0.378	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1		NM_139163		23	66	0	0	0	0.003954	0	23	66		
CDK15	65061	broad.mit.edu	37	2	202755540	202755540	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:202755540C>T	ENST00000374598.4	+	13	1231	c.1231C>T	c.(1231-1233)Cta>Tta	p.L411L	CDK15_ENST00000410091.3_Silent_p.L360L|CDK15_ENST00000450471.2_Silent_p.L405L|CDK15_ENST00000260967.2_Silent_p.L360L			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	411							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	AGGAGTGAGGCTAAAGCCAGA	0.443																																						uc002uyt.2		NaN																	0				breast(2)|ovary(1)|lung(1)|kidney(1)	5						c.(1213-1215)CTA>TTA		PFTAIRE protein kinase 2	Adenosine triphosphate(DB00171)						111.0	109.0	109.0					2																	202755540		2203	4300	6503	SO:0001819	synonymous_variant	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202755540C>T	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.1231C>T	2.37:g.202755540C>T						CDK15_uc002uys.2_Silent_p.L360L|CDK15_uc010ftn.1_Silent_p.L360L|CDK15_uc002uyu.1_RNA	p.L405L	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN			13	1262	+			411					A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Silent	SNP	ENST00000374598.4	37	c.1213C>T																																																																																					0.443	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2				22	42	0	0	0	0.010818	0	22	42		
PARD3B	117583	broad.mit.edu	37	2	206023472	206023472	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:206023472C>G	ENST00000406610.2	+	11	1668	c.1461C>G	c.(1459-1461)ctC>ctG	p.L487L	PARD3B_ENST00000351153.1_Silent_p.L487L|PARD3B_ENST00000462231.1_Silent_p.L487L|PARD3B_ENST00000349953.3_Silent_p.L487L|PARD3B_ENST00000358768.2_Intron	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	487					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCTGTGCACTCTCTCTGGAGA	0.463																																						uc002var.1		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(1459-1461)CTC>CTG		par-3 partitioning defective 3 homolog B isoform							126.0	123.0	124.0					2																	206023472		1886	4121	6007	SO:0001819	synonymous_variant	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206023472C>G	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1461C>G	2.37:g.206023472C>G						PARD3B_uc010fub.1_Silent_p.L487L|PARD3B_uc002vao.1_Silent_p.L487L|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Silent_p.L487L	p.L487L	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	11	1668	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	487					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	37	c.1461C>G																																																																																					0.463	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1		NM_057177		32	113	0	0	0	0.004289	0	32	113		
PARD3B	117583	broad.mit.edu	37	2	206023538	206023538	+	Silent	SNP	C	C	A	rs200533572		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:206023538C>A	ENST00000406610.2	+	11	1734	c.1527C>A	c.(1525-1527)ctC>ctA	p.L509L	PARD3B_ENST00000351153.1_Silent_p.L509L|PARD3B_ENST00000462231.1_Silent_p.L509L|PARD3B_ENST00000349953.3_Silent_p.L509L|PARD3B_ENST00000358768.2_Intron	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	509	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CTGCTGGCCTCGGGGTGAGCT	0.488																																						uc002var.1		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(1525-1527)CTC>CTA		par-3 partitioning defective 3 homolog B isoform							99.0	95.0	96.0					2																	206023538		1865	4109	5974	SO:0001819	synonymous_variant	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206023538C>A	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1527C>A	2.37:g.206023538C>A						PARD3B_uc010fub.1_Silent_p.L509L|PARD3B_uc002vao.1_Silent_p.L509L|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Silent_p.L509L	p.L509L	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	11	1734	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	509			PDZ 3.		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	ENST00000406610.2	37	c.1527C>A																																																																																					0.488	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1		NM_057177		19	69	1	0	9.04412e-07	0.004656	9.42749e-07	19	69		
PARD3B	117583	broad.mit.edu	37	2	206023564	206023564	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:206023564C>G	ENST00000406610.2	+	11	1760	c.1553C>G	c.(1552-1554)tCc>tGc	p.S518C	PARD3B_ENST00000351153.1_Missense_Mutation_p.S518C|PARD3B_ENST00000462231.1_Missense_Mutation_p.S518C|PARD3B_ENST00000349953.3_Missense_Mutation_p.S518C|PARD3B_ENST00000358768.2_Intron	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	518	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGGAACAAATCCAGAGAAACT	0.473																																						uc002var.1		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(1552-1554)TCC>TGC		par-3 partitioning defective 3 homolog B isoform							97.0	92.0	93.0					2																	206023564		1857	4097	5954	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206023564C>G	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1553C>G	2.37:g.206023564C>G	ENSP00000385848:p.Ser518Cys					PARD3B_uc010fub.1_Missense_Mutation_p.S518C|PARD3B_uc002vao.1_Missense_Mutation_p.S518C|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Missense_Mutation_p.S518C	p.S518C	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	11	1760	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	518			PDZ 3.		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.1553C>G		.	.	.	.	.	.	.	.	.	.	C	21.4	4.142576	0.77888	.	.	ENSG00000116117	ENST00000406610;ENST00000351153;ENST00000349953	T;T;T	0.28666	1.6;1.6;1.6	5.86	5.86	0.93980	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.54382	0.1855	L	0.53617	1.68	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.998;0.983;1.0	D;D;D;D	0.91635	0.998;0.991;0.985;0.999	T	0.49390	-0.8945	9	0.56958	D	0.05	.	20.1802	0.98196	0.0:1.0:0.0:0.0	.	518;518;518;518	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-5	.;PAR3L_HUMAN;.;.	C	518	ENSP00000385848:S518C;ENSP00000317261:S518C;ENSP00000340280:S518C	ENSP00000340280:S518C	S	+	2	0	PARD3B	205731809	1.000000	0.71417	0.951000	0.38953	0.608000	0.37181	7.487000	0.81328	2.777000	0.95525	0.655000	0.94253	TCC		0.473	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1		NM_057177		13	60	0	0	0	0.008871	0	13	60		
PARD3B	117583	broad.mit.edu	37	2	206023598	206023598	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:206023598C>G	ENST00000406610.2	+	11	1794	c.1587C>G	c.(1585-1587)atC>atG	p.I529M	PARD3B_ENST00000351153.1_Missense_Mutation_p.I529M|PARD3B_ENST00000462231.1_Missense_Mutation_p.I529M|PARD3B_ENST00000349953.3_Missense_Mutation_p.I529M|PARD3B_ENST00000358768.2_Intron	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	529	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGATTTTTATCAAATCCATCA	0.453																																						uc002var.1		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(1585-1587)ATC>ATG		par-3 partitioning defective 3 homolog B isoform							83.0	79.0	80.0					2																	206023598		1871	4103	5974	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206023598C>G	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1587C>G	2.37:g.206023598C>G	ENSP00000385848:p.Ile529Met					PARD3B_uc010fub.1_Missense_Mutation_p.I529M|PARD3B_uc002vao.1_Missense_Mutation_p.I529M|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Missense_Mutation_p.I529M	p.I529M	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	11	1794	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	529			PDZ 3.		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.1587C>G		.	.	.	.	.	.	.	.	.	.	C	17.65	3.442572	0.63067	.	.	ENSG00000116117	ENST00000406610;ENST00000351153;ENST00000349953	T;T;T	0.28666	1.6;1.6;1.6	5.86	3.1	0.35709	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.54647	0.1871	M	0.86864	2.845	0.42717	D	0.99366	D;D;D;D	0.76494	0.994;0.997;0.973;0.999	D;D;D;D	0.97110	0.982;0.999;0.997;1.0	T	0.54193	-0.8330	9	0.87932	D	0	.	5.9772	0.19387	0.1343:0.6623:0.0:0.2034	.	529;529;529;529	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-5	.;PAR3L_HUMAN;.;.	M	529	ENSP00000385848:I529M;ENSP00000317261:I529M;ENSP00000340280:I529M	ENSP00000340280:I529M	I	+	3	3	PARD3B	205731843	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.838000	0.55828	0.393000	0.25203	0.655000	0.94253	ATC		0.453	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1		NM_057177		8	51	0	0	0	0.004007	0	8	51		
PTH2R	5746	broad.mit.edu	37	2	209358298	209358298	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:209358298G>A	ENST00000272847.2	+	13	1780	c.1567G>A	c.(1567-1569)Gat>Aat	p.D523N	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	523					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	GCAGGGAGATGATATTCTAAT	0.493																																						uc002vdb.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(1567-1569)GAT>AAT		parathyroid hormone 2 receptor precursor							92.0	89.0	90.0					2																	209358298		2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209358298G>A	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1567G>A	2.37:g.209358298G>A	ENSP00000272847:p.Asp523Asn					PTH2R_uc010zjb.1_Missense_Mutation_p.D534N|PTH2R_uc010fuo.1_Intron	p.D523N	NM_005048	NP_005039	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	13	1780	+			523			Cytoplasmic (Potential).		Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.1567G>A	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705574	0.48412	.	.	ENSG00000144407	ENST00000272847	T	0.54866	0.55	5.52	4.64	0.57946	.	0.442488	0.16435	U	0.214548	T	0.42675	0.1213	L	0.38175	1.15	0.09310	N	0.999999	B;B	0.28713	0.215;0.22	B;B	0.28784	0.07;0.094	T	0.24728	-1.0152	9	.	.	.	.	12.4314	0.55575	0.0827:0.0:0.9173:0.0	.	412;523	B4DFN8;P49190	.;PTH2R_HUMAN	N	523	ENSP00000272847:D523N	.	D	+	1	0	PTH2R	209066543	0.983000	0.35010	0.002000	0.10522	0.011000	0.07611	6.311000	0.72835	1.310000	0.45006	0.591000	0.81541	GAT		0.493	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2		NM_005048		26	55	0	0	0	0.00333	0	26	55		
SPEG	10290	broad.mit.edu	37	2	220337739	220337739	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:220337739C>G	ENST00000312358.7	+	16	4200	c.4068C>G	c.(4066-4068)atC>atG	p.I1356M	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1356	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCCAGCACATCTTCCGGGTCC	0.667																																						uc010fwg.2		NaN																	0				stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(4066-4068)ATC>ATG		SPEG complex locus							47.0	54.0	52.0					2																	220337739		2100	4223	6323	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220337739C>G	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4068C>G	2.37:g.220337739C>G	ENSP00000311684:p.Ile1356Met						p.I1356M	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	16	4068	+		Renal(207;0.0183)	1356			Fibronectin type-III 1.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.4068C>G	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	7.576	0.667668	0.14710	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.54279	0.58	5.11	3.3	0.37823	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.932228	0.08792	N	0.893107	T	0.36663	0.0975	N	0.17474	0.49	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.05971	-1.0853	10	0.38643	T	0.18	.	8.3969	0.32561	0.0:0.6258:0.2935:0.0807	.	1356	Q15772	SPEG_HUMAN	M	1356	ENSP00000311684:I1356M	ENSP00000265327:I1356M	I	+	3	3	SPEG	220045983	1.000000	0.71417	0.992000	0.48379	0.834000	0.47266	1.688000	0.37690	0.547000	0.28938	-0.304000	0.09214	ATC		0.667	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2		NM_005876		15	56	0	0	0	0.00499	0	15	56		
SPHKAP	80309	broad.mit.edu	37	2	228855860	228855860	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:228855860C>G	ENST00000392056.3	-	11	4861	c.4815G>C	c.(4813-4815)caG>caC	p.Q1605H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.Q1576H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1605						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCAGGCTCCTCTGGGGGCTGG	0.577																																						uc002vpq.2		NaN																	0				skin(5)|ovary(4)|lung(1)	10						c.(4813-4815)CAG>CAC		sphingosine kinase type 1-interacting protein							42.0	45.0	44.0					2																	228855860		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228855860C>G		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4815G>C	2.37:g.228855860C>G	ENSP00000375909:p.Gln1605His					SPHKAP_uc002vpp.2_Missense_Mutation_p.Q1576H|SPHKAP_uc010zlx.1_Intron	p.Q1605H	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	11	4862	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1605					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4815G>C	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905405	0.52333	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.06687	3.27;3.27	6.17	3.08	0.35506	A-kinase anchor 110kDa, C-terminal (1);	0.060686	0.64402	D	0.000002	T	0.20618	0.0496	M	0.65975	2.015	0.44462	D	0.997394	D;D	0.89917	1.0;1.0	D;D	0.80764	0.979;0.994	T	0.00692	-1.1607	10	0.56958	D	0.05	.	5.4524	0.16572	0.0:0.5761:0.1543:0.2697	.	1605;1576	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	H	1605;1576	ENSP00000375909:Q1605H;ENSP00000339886:Q1576H	ENSP00000339886:Q1576H	Q	-	3	2	SPHKAP	228564104	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	0.784000	0.26816	1.621000	0.50320	0.655000	0.94253	CAG		0.577	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1		NM_030623		12	36	0	0	0	0.013537	0	12	36		
SPHKAP	80309	broad.mit.edu	37	2	228882210	228882210	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:228882210C>G	ENST00000392056.3	-	7	3406	c.3360G>C	c.(3358-3360)tcG>tcC	p.S1120S	SPHKAP_ENST00000344657.5_Silent_p.S1120S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1120						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTCACAGCTCGACTGCTTGG	0.542																																						uc002vpq.2		NaN																	0				skin(5)|ovary(4)|lung(1)	10						c.(3358-3360)TCG>TCC		sphingosine kinase type 1-interacting protein							40.0	34.0	36.0					2																	228882210		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228882210C>G		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3360G>C	2.37:g.228882210C>G						SPHKAP_uc002vpp.2_Silent_p.S1120S|SPHKAP_uc010zlx.1_Silent_p.S1120S	p.S1120S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3407	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1120					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.3360G>C	CCDS46537.1																																																																																				0.542	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1		NM_030623		7	24	0	0	0	0.00308	0	7	24		
EIF4E2	9470	broad.mit.edu	37	2	233431865	233431865	+	Silent	SNP	A	A	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr2:233431865A>G	ENST00000258416.3	+	6	1279	c.606A>G	c.(604-606)cgA>cgG	p.R202R	EIF4E2_ENST00000409322.1_Silent_p.R157R|EIF4E2_ENST00000409514.1_Silent_p.R202R|EIF4E2_ENST00000409167.3_Silent_p.R157R|EIF4E2_ENST00000409098.1_Silent_p.R202R|EIF4E2_ENST00000409495.1_Silent_p.R202R|EIF4E2_ENST00000409394.1_Silent_p.R157R	NM_004846.2	NP_004837.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	202					cytokine-mediated signaling pathway (GO:0019221)|in utero embryonic development (GO:0001701)|negative regulation of translation (GO:0017148)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CACTTCGGCGAGTGCTTAACC	0.488																																						uc002vta.2		NaN																	0					0						c.(604-606)CGA>CGG		eukaryotic translation initiation factor 4E							146.0	128.0	134.0					2																	233431865		2203	4300	6503	SO:0001819	synonymous_variant	9470				regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding	g.chr2:233431865A>G	AF038957	CCDS2496.1, CCDS63158.1, CCDS63159.1, CCDS74671.1	2q37.1	2008-02-05	2006-11-13	2004-10-30	ENSG00000135930	ENSG00000135930			3293	protein-coding gene	gene with protein product		605895	"""eukaryotic translation initiation factor 4E-like 3"""	EIF4EL3		9653160, 9582349	Standard	XM_005246975		Approved	IF4e, 4EHP	uc002vta.3	O60573	OTTHUMG00000133256	ENST00000258416.3:c.606A>G	2.37:g.233431865A>G						EIF4E2_uc002vtb.1_Silent_p.R202R|EIF4E2_uc010zmi.1_Silent_p.R157R	p.R202R	NM_004846	NP_004837	O60573	IF4E2_HUMAN		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	6	684	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	202					B8ZZJ9|O75349	Silent	SNP	ENST00000258416.3	37	c.606A>G	CCDS2496.1																																																																																				0.488	EIF4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257033.2		NM_004846		49	146	0	0	0	0.01441	0	49	146		
ZCCHC3	85364	broad.mit.edu	37	20	279262	279262	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:279262G>C	ENST00000382352.3	+	1	1526	c.1035G>C	c.(1033-1035)atG>atC	p.M345I		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	345							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GGACCCACATGAGCGGCAGCT	0.637																																						uc002wdf.2		NaN																	0					0						c.(1030-1032)ATG>ATC		zinc finger, CCHC domain containing 3							52.0	60.0	57.0					20																	279262		1998	4163	6161	SO:0001583	missense	85364						nucleic acid binding|zinc ion binding	g.chr20:279262G>C	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"""Zinc fingers, CCHC domain containing"""	16230	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 99"""	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.1035G>C	20.37:g.279262G>C	ENSP00000371789:p.Met345Ile					ZCCHC3_uc002wdg.2_RNA	p.M344I	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		2	1056	+		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	345			CCHC-type 1.		Q3B7J3|Q6NT79	Missense_Mutation	SNP	ENST00000382352.3	37	c.1032G>C	CCDS42844.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780859	0.49891	.	.	ENSG00000177764	ENST00000382352	.	.	.	4.93	4.93	0.64822	Zinc finger, CCHC-type (1);	0.294503	0.27802	N	0.017793	T	0.45276	0.1334	N	0.22421	0.69	0.39397	D	0.966527	B	0.25667	0.131	B	0.22386	0.039	T	0.44772	-0.9306	9	0.48119	T	0.1	-24.1792	16.0051	0.80357	0.0:0.0:1.0:0.0	.	345	Q9NUD5	ZCHC3_HUMAN	I	345	.	ENSP00000371789:M345I	M	+	3	0	ZCCHC3	227262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.853000	0.55941	2.715000	0.92844	0.555000	0.69702	ATG		0.637	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1				23	80	0	0	0	0.003954	0	23	80		
NDUFAF5	79133	broad.mit.edu	37	20	13765904	13765904	+	Nonsense_Mutation	SNP	G	G	T	rs147117631	byFrequency	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:13765904G>T	ENST00000378106.5	+	1	309	c.190G>T	c.(190-192)Gag>Tag	p.E64*	NDUFAF5_ENST00000475968.1_3'UTR|NDUFAF5_ENST00000463598.1_Nonsense_Mutation_p.E64*|ESF1_ENST00000202816.1_5'Flank	NM_024120.4	NP_077025.2	Q5TEU4	NDUF5_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	64					mitochondrial respiratory chain complex I assembly (GO:0032981)	extrinsic component of mitochondrial inner membrane (GO:0031314)	methyltransferase activity (GO:0008168)										CCGGCAGCCCGAGCCGACCAA	0.632																																						uc002wom.2		NaN																	0					0						c.(190-192)GAG>TAG		hypothetical protein LOC79133 isoform 1							15.0	19.0	18.0					20																	13765904		2198	4297	6495	SO:0001587	stop_gained	79133				mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity	g.chr20:13765904G>T		CCDS13118.1, CCDS33441.1	20p12.1	2012-10-12	2012-05-08	2012-05-08	ENSG00000101247	ENSG00000101247		"""Mitochondrial respiratory chain complex assembly factors"""	15899	protein-coding gene	gene with protein product		612360	"""chromosome 20 open reading frame 7"""	C20orf7		18940309, 21607760	Standard	NM_024120		Approved	dJ842G6.1	uc002wom.3	Q5TEU4	OTTHUMG00000031909	ENST00000378106.5:c.190G>T	20.37:g.13765904G>T	ENSP00000367346:p.Glu64*					ESF1_uc002woj.2_5'Flank|ESF1_uc002wok.1_5'Flank|C20orf7_uc002wol.1_Nonsense_Mutation_p.E64*|C20orf7_uc002won.2_Nonsense_Mutation_p.E64*|C20orf7_uc002woo.2_RNA	p.E64*	NM_024120	NP_077025	Q5TEU4	CT007_HUMAN			1	223	+		Myeloproliferative disorder(85;0.00878)	64					A8K166|Q6GPH3|Q9H6F4	Nonsense_Mutation	SNP	ENST00000378106.5	37	c.190G>T	CCDS13118.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663500	0.88251	.	.	ENSG00000101247	ENST00000378106;ENST00000536501;ENST00000463598	.	.	.	5.7	4.73	0.59995	.	0.584268	0.18568	N	0.137401	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-12.3833	16.221	0.82258	0.0:0.1333:0.8666:0.0	.	.	.	.	X	64	.	ENSP00000437325:E64X	E	+	1	0	C20orf7	13713904	1.000000	0.71417	0.036000	0.18154	0.173000	0.22820	5.543000	0.67225	1.361000	0.45981	0.591000	0.81541	GAG		0.632	NDUFAF5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078057.2		NM_001039375		3	18	1	0	0.004672	0.004672	0.00479611	3	18		
SEC23B	10483	broad.mit.edu	37	20	18508212	18508212	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:18508212C>G	ENST00000336714.3	+	9	1498	c.1066C>G	c.(1066-1068)Caa>Gaa	p.Q356E	SEC23B_ENST00000377475.3_Missense_Mutation_p.Q356E|SEC23B_ENST00000262544.2_Missense_Mutation_p.Q356E|SEC23B_ENST00000377465.1_Missense_Mutation_p.Q356E	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	356					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TGCCCTTGATCAAACTGGACT	0.408																																						uc002wqz.1		NaN																	0				ovary(1)	1						c.(1066-1068)CAA>GAA		Sec23 homolog B							306.0	267.0	280.0					20																	18508212		2203	4300	6503	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18508212C>G	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.1066C>G	20.37:g.18508212C>G	ENSP00000338844:p.Gln356Glu					SEC23B_uc002wra.1_Missense_Mutation_p.Q356E|SEC23B_uc002wrb.1_Missense_Mutation_p.Q356E|SEC23B_uc010zsb.1_Missense_Mutation_p.Q338E|SEC23B_uc002wrc.1_Missense_Mutation_p.Q356E	p.Q356E	NM_006363	NP_006354	Q15437	SC23B_HUMAN			9	1509	+			356					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.1066C>G	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966363	0.92855	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.14	5.14	0.70334	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	D	0.87881	0.6289	M	0.90705	3.14	0.80722	D	1	B;P	0.39352	0.224;0.669	B;P	0.50162	0.226;0.633	D	0.89451	0.3730	10	0.72032	D	0.01	-14.5751	18.1378	0.89627	0.0:1.0:0.0:0.0	.	338;356	B4DJW8;Q15437	.;SC23B_HUMAN	E	356	ENSP00000338844:Q356E;ENSP00000262544:Q356E;ENSP00000366695:Q356E;ENSP00000366685:Q356E	ENSP00000262544:Q356E	Q	+	1	0	SEC23B	18456212	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.609000	0.82925	2.837000	0.97791	0.655000	0.94253	CAA		0.408	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5				74	297	0	0	0	0.01441	0	74	297		
SEC23B	10483	broad.mit.edu	37	20	18513307	18513307	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:18513307G>C	ENST00000336714.3	+	11	1665		c.e11-1		SEC23B_ENST00000377475.3_Splice_Site|SEC23B_ENST00000262544.2_Splice_Site|SEC23B_ENST00000377465.1_Splice_Site	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)						ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ATTTGTTATAGACCTCTCGGG	0.413																																						uc002wqz.1		NaN																	2	Unknown(2)		liver(2)	ovary(1)	1						c.e11-1		Sec23 homolog B							130.0	127.0	128.0					20																	18513307		2203	4300	6503	SO:0001630	splice_region_variant	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18513307G>C	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.1234-1G>C	20.37:g.18513307G>C						SEC23B_uc002wra.1_Splice_Site_p.T412_splice|SEC23B_uc002wrb.1_Splice_Site_p.T412_splice|SEC23B_uc010zsb.1_Splice_Site_p.T394_splice|SEC23B_uc002wrc.1_Splice_Site_p.T412_splice	p.T412_splice	NM_006363	NP_006354	Q15437	SC23B_HUMAN			11	1677	+								D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Splice_Site	SNP	ENST00000336714.3	37	c.1234_splice	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297493	0.81025	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2702	0.87099	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEC23B	18461307	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	9.017000	0.93651	2.631000	0.89168	0.655000	0.94253	.		0.413	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			Intron	18	57	0	0	0	0.012319	0	18	57		
BPIFB3	359710	broad.mit.edu	37	20	31647285	31647285	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:31647285C>G	ENST00000375494.3	+	3	383	c.383C>G	c.(382-384)tCt>tGt	p.S128C	AL121756.1_ENST00000579962.1_RNA	NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	128	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										ATGCATTGCTCTGGGTGAGTG	0.602																																						uc002wym.1		NaN																	0				ovary(4)	4						c.(382-384)TCC>TGC		antimicrobial peptide RYA3 precursor							63.0	56.0	59.0					20																	31647285		2203	4300	6503	SO:0001583	missense	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31647285C>G	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.383C>G	20.37:g.31647285C>G	ENSP00000364643:p.Ser128Cys						p.S128C	NM_182658	NP_872599	P59826	LPLC3_HUMAN			3	383	+			128			Leu-rich.		Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	c.383C>G	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.108532	0.56291	.	.	ENSG00000186190	ENST00000375494	T	0.07021	3.23	4.34	4.34	0.51931	.	0.274129	0.26435	N	0.024396	T	0.21674	0.0522	L	0.51422	1.61	0.31797	N	0.6289	D	0.76494	0.999	D	0.85130	0.997	T	0.02526	-1.1146	10	0.56958	D	0.05	-13.8739	12.2269	0.54465	0.0:1.0:0.0:0.0	.	128	P59826	BPIB3_HUMAN	C	128	ENSP00000364643:S128C	ENSP00000364643:S128C	S	+	2	0	BPIFB3	31110946	0.874000	0.30092	0.995000	0.50966	0.777000	0.43975	1.334000	0.33827	2.253000	0.74438	0.561000	0.74099	TCT		0.602	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2		NM_182658		3	7	0	0	0	0.004672	0	3	7		
EPB41L1	2036	broad.mit.edu	37	20	34797558	34797558	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:34797558C>G	ENST00000338074.2	+	15	1978	c.1817C>G	c.(1816-1818)tCc>tGc	p.S606C	EPB41L1_ENST00000373941.1_Missense_Mutation_p.S606C|EPB41L1_ENST00000202028.5_Missense_Mutation_p.S532C|EPB41L1_ENST00000441639.1_Missense_Mutation_p.S532C|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373950.2_Missense_Mutation_p.S497C	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	606					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CGCAAGTGCTCCAGCATCACG	0.612																																						uc002xfb.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1816-1818)TCC>TGC		erythrocyte membrane protein band 4.1-like 1							114.0	91.0	99.0					20																	34797558		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34797558C>G	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1817C>G	20.37:g.34797558C>G	ENSP00000337168:p.Ser606Cys					EPB41L1_uc002xeu.2_Missense_Mutation_p.S532C|EPB41L1_uc010zvo.1_Missense_Mutation_p.S606C|EPB41L1_uc002xev.2_Missense_Mutation_p.S606C|EPB41L1_uc002xew.2_Missense_Mutation_p.S497C|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Missense_Mutation_p.S532C|EPB41L1_uc010gfq.2_Missense_Mutation_p.S705C	p.S606C	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN			15	1988	+	Breast(12;0.0239)		606					O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.1817C>G	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282739	0.80692	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000344237;ENST00000338074;ENST00000373941	D;D;D;D;D	0.87491	-2.26;-2.17;-2.26;-2.21;-2.21	5.87	5.87	0.94306	.	0.115441	0.64402	D	0.000010	D	0.90978	0.7163	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.87578	0.921;0.998;0.98;0.98;0.99;0.995	D	0.90662	0.4591	10	0.56958	D	0.05	-8.6755	19.5705	0.95413	0.0:1.0:0.0:0.0	.	606;895;606;497;497;532	B7Z653;E9PCJ3;Q9H4G0;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;.;E41L1_HUMAN;.;.;.	C	532;497;606;497;532;895;606;606	ENSP00000202028:S532C;ENSP00000363061:S497C;ENSP00000399214:S532C;ENSP00000337168:S606C;ENSP00000363052:S606C	ENSP00000202028:S532C	S	+	2	0	EPB41L1	34260972	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.238000	0.78173	2.941000	0.99782	0.655000	0.94253	TCC		0.612	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3		NM_012156		17	42	0	0	0	0.006122	0	17	42		
R3HDML	140902	broad.mit.edu	37	20	42969880	42969880	+	Silent	SNP	C	C	T	rs369305382		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:42969880C>T	ENST00000217043.2	+	2	478	c.306C>T	c.(304-306)acC>acT	p.T102T		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	102	SCP.					extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CCTGGGCCACCCAGTGCATCT	0.587																																						uc002xls.1		NaN																	0					0						c.(304-306)ACC>ACT		R3H domain containing-like precursor							58.0	56.0	57.0					20																	42969880		2203	4300	6503	SO:0001819	synonymous_variant	140902					extracellular region	peptidase inhibitor activity	g.chr20:42969880C>T	BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing-like"""				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.306C>T	20.37:g.42969880C>T							p.T102T	NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	478	+		Myeloproliferative disorder(115;0.028)	102						Silent	SNP	ENST00000217043.2	37	c.306C>T	CCDS13329.1																																																																																				0.587	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1		NM_178491		25	54	0	0	0	0.008361	0	25	54		
SLC9A8	23315	broad.mit.edu	37	20	48500483	48500483	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:48500483C>T	ENST00000361573.2	+	14	1413	c.1371C>T	c.(1369-1371)ctC>ctT	p.L457L	SLC9A8_ENST00000417961.1_Silent_p.L473L|SLC9A8_ENST00000539601.1_Silent_p.L238L|SLC9A8_ENST00000541138.1_Silent_p.L157L			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	457					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TCATCGTGCTCTTCACCATCC	0.632																																						uc002xuv.1		NaN																	0				ovary(1)	1						c.(1369-1371)CTC>CTT		sodium/hydrogen exchanger 8							193.0	139.0	157.0					20																	48500483		2203	4300	6503	SO:0001819	synonymous_variant	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48500483C>T	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1371C>T	20.37:g.48500483C>T						SLC9A8_uc010zym.1_Silent_p.L157L|SLC9A8_uc010gic.2_Silent_p.L157L|SLC9A8_uc010gid.2_Silent_p.L81L	p.L457L	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		14	1581	+			457			Helical; (Potential).		B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Silent	SNP	ENST00000361573.2	37	c.1371C>T	CCDS13421.1																																																																																				0.632	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3		XM_030524		26	120	0	0	0	0.00632	0	26	120		
LAMA5	3911	broad.mit.edu	37	20	60897153	60897153	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:60897153C>G	ENST00000252999.3	-	48	6484	c.6418G>C	c.(6418-6420)Gag>Cag	p.E2140Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2140	Laminin EGF-like 22. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TCGCAGCGCTCCCCGCTGAGC	0.692																																						uc002ycq.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(6418-6420)GAG>CAG		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						24.0	23.0	23.0					20																	60897153		2185	4285	6470	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60897153C>G	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6418G>C	20.37:g.60897153C>G	ENSP00000252999:p.Glu2140Gln						p.E2140Q	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		48	6485	-	Breast(26;1.57e-08)		2140			Laminin EGF-like 22.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.6418G>C	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	11.49	1.653715	0.29425	.	.	ENSG00000130702	ENST00000252999	T	0.34472	1.36	4.53	3.34	0.38264	EGF-like, laminin (2);EGF-like region, conserved site (1);	0.062136	0.64402	U	0.000007	T	0.17789	0.0427	N	0.16016	0.355	0.80722	D	1	P	0.37914	0.611	B	0.37731	0.257	T	0.03354	-1.1045	10	0.15952	T	0.53	.	6.3366	0.21298	0.0:0.7218:0.0:0.2782	.	2140	O15230	LAMA5_HUMAN	Q	2140	ENSP00000252999:E2140Q	ENSP00000252999:E2140Q	E	-	1	0	LAMA5	60330548	1.000000	0.71417	0.999000	0.59377	0.036000	0.12997	1.508000	0.35769	2.069000	0.61940	0.485000	0.47835	GAG		0.692	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2		NM_005560		9	19	0	0	0	0.004482	0	9	19		
GID8	54994	broad.mit.edu	37	20	61574870	61574870	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr20:61574870C>T	ENST00000266069.3	+	4	486	c.339C>T	c.(337-339)atC>atT	p.I113I		NM_017896.2	NP_060366.1	Q9NWU2	GID8_HUMAN	GID complex subunit 8	113	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.					cell junction (GO:0030054)|nucleus (GO:0005634)											TCGAGCTGATCCGCCAGCGGG	0.622																																						uc002ydy.2		NaN																	0					0						c.(337-339)ATC>ATT		chromosome 20 open reading frame 11							33.0	33.0	33.0					20																	61574870		2201	4299	6500	SO:0001819	synonymous_variant	54994					nucleus	protein binding	g.chr20:61574870C>T	AK000609	CCDS13510.1	20q13.33	2013-07-31	2013-07-31	2012-07-20	ENSG00000101193	ENSG00000101193			15857	protein-coding gene	gene with protein product		611625	"""chromosome 20 open reading frame 11"", ""GID complex subunit 8 homolog (S. cerevisiae)"""	C20orf11		12559565	Standard	NM_017896		Approved	FLJ20602, bA305P22.1, TWA1	uc002ydy.3	Q9NWU2	OTTHUMG00000032949	ENST00000266069.3:c.339C>T	20.37:g.61574870C>T							p.I113I	NM_017896	NP_060366	Q9NWU2	CT011_HUMAN			4	516	+	Breast(26;5.68e-08)		113			CTLH.		E1P5I3|Q8N5M5	Silent	SNP	ENST00000266069.3	37	c.339C>T	CCDS13510.1																																																																																				0.622	GID8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080097.2		NM_017896		15	44	0	0	0	0.004007	0	15	44		
TIAM1	7074	broad.mit.edu	37	21	32519223	32519223	+	Silent	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr21:32519223G>T	ENST00000286827.3	-	21	3936	c.3465C>A	c.(3463-3465)gtC>gtA	p.V1155V	TIAM1_ENST00000541036.1_Silent_p.V1095V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1155	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTTTCACCAGGACCTTGGGAA	0.527																																						uc002yow.1		NaN																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(3463-3465)GTC>GTA		T-cell lymphoma invasion and metastasis 1							111.0	88.0	96.0					21																	32519223		2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32519223G>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3465C>A	21.37:g.32519223G>T						TIAM1_uc011adk.1_Silent_p.V1155V|TIAM1_uc011adl.1_Silent_p.V1095V	p.V1155V	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			21	3937	-			1155			DH.		B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.3465C>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	9.436	1.086886	0.20390	.	.	ENSG00000156299	ENST00000399841	.	.	.	5.51	3.63	0.41609	.	.	.	.	.	T	0.59918	0.2229	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58814	-0.7570	5	0.62326	D	0.03	.	5.0092	0.14304	0.1643:0.0:0.5543:0.2814	.	.	.	.	T	995	.	ENSP00000382735:P995T	P	-	1	0	TIAM1	31441094	0.899000	0.30636	1.000000	0.80357	0.995000	0.86356	-0.052000	0.11865	0.608000	0.30000	0.650000	0.86243	CCT		0.527	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1		NM_003253		9	28	1	0	1.11149e-13	0.008291	1.18369e-13	9	28		
TIAM1	7074	broad.mit.edu	37	21	32519296	32519296	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr21:32519296G>A	ENST00000286827.3	-	21	3863	c.3392C>T	c.(3391-3393)tCa>tTa	p.S1131L	TIAM1_ENST00000541036.1_Missense_Mutation_p.S1071L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1131	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATACAGGAATGATCCCCCCAG	0.502																																						uc002yow.1		NaN																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(3391-3393)TCA>TTA		T-cell lymphoma invasion and metastasis 1							126.0	101.0	109.0					21																	32519296		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32519296G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3392C>T	21.37:g.32519296G>A	ENSP00000286827:p.Ser1131Leu					TIAM1_uc011adk.1_Missense_Mutation_p.S1131L|TIAM1_uc011adl.1_Missense_Mutation_p.S1071L	p.S1131L	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			21	3864	-			1131			DH.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.3392C>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	33	5.210257	0.95069	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.60548	0.18;0.18	5.51	5.51	0.81932	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.64472	0.2601	N	0.16602	0.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.67296	-0.5706	10	0.46703	T	0.11	.	19.4193	0.94713	0.0:0.0:1.0:0.0	.	1071;1071;1131	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	L	1131;972;1071	ENSP00000286827:S1131L;ENSP00000441570:S1071L	ENSP00000286827:S1131L	S	-	2	0	TIAM1	31441167	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	9.737000	0.98831	2.564000	0.86499	0.650000	0.86243	TCA		0.502	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1		NM_003253		15	34	0	0	0	0.00499	0	15	34		
CRYZL1	9946	broad.mit.edu	37	21	34975814	34975814	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr21:34975814C>T	ENST00000381554.3	-	7	446	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	CRYZL1_ENST00000290244.5_Missense_Mutation_p.E106K|CRYZL1_ENST00000361534.2_Missense_Mutation_p.E145K|CRYZL1_ENST00000381540.3_Missense_Mutation_p.E121K|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000445393.1_Missense_Mutation_p.E83K	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	121					quinone metabolic process (GO:1901661)	cytosol (GO:0005829)	NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			lung(1)|prostate(1)|urinary_tract(1)	3						CCTGCTGCTTCCGTCCATGTG	0.443																																						uc011adw.1		NaN																	0					0						c.(361-363)GAA>AAA		crystallin, zeta-like 1							201.0	157.0	172.0					21																	34975814		2203	4300	6503	SO:0001583	missense	9946				quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding	g.chr21:34975814C>T	AF029689	CCDS13633.2	21q22.1	2008-07-31			ENSG00000205758	ENSG00000205758			2420	protein-coding gene	gene with protein product	"""quinone reductase-like 1"""	603920				10191096	Standard	NM_145858		Approved	QOH-1, 4P11	uc021wio.1	O95825	OTTHUMG00000065954	ENST00000381554.3:c.361G>A	21.37:g.34975814C>T	ENSP00000370966:p.Glu121Lys					DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.E145K|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA	p.E121K	NM_145858	NP_665857	O95825	QORL1_HUMAN			7	541	-			121					B2RDX1|B3KQ77|Q96DY0|Q9NVY7	Missense_Mutation	SNP	ENST00000381554.3	37	c.361G>A	CCDS13633.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.973300|4.973300	0.92919|0.92919	.|.	.|.	ENSG00000205758|ENSG00000205758	ENST00000381554;ENST00000290244;ENST00000381540;ENST00000445393;ENST00000361534;ENST00000452332;ENST00000426935;ENST00000431177;ENST00000417979|ENST00000440526	T;T;T;T;T;T;T;T|.	0.44881|.	1.37;1.37;1.37;1.32;1.37;0.91;0.91;0.91|.	5.22|5.22	5.22|5.22	0.72569|0.72569	GroES-like (1);Alcohol dehydrogenase GroES-like (1);|.	0.324118|.	0.33732|.	N|.	0.004618|.	D|D	0.83041|0.83041	0.5168|0.5168	M|M	0.87038|0.87038	2.855|2.855	0.80722|0.80722	D|D	1|1	B;P|.	0.39044|.	0.428;0.656|.	B;P|.	0.46850|.	0.405;0.529|.	D|D	0.85507|0.85507	0.1195|0.1195	10|5	0.56958|.	D|.	0.05|.	-9.8021|-9.8021	17.5501|17.5501	0.87873|0.87873	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	121;145|.	O95825;A6NHJ8|.	QORL1_HUMAN;.|.	K|E	121;106;121;83;145;121;69;121;69|64	ENSP00000370966:E121K;ENSP00000290244:E106K;ENSP00000370951:E121K;ENSP00000399730:E83K;ENSP00000355075:E145K;ENSP00000387660:E69K;ENSP00000405510:E121K;ENSP00000402844:E69K|.	ENSP00000290244:E106K|.	E|G	-|-	1|2	0|0	CRYZL1|CRYZL1	33897684|33897684	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	4.297000|4.297000	0.59061|0.59061	2.418000|2.418000	0.82041|0.82041	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.443	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141282.2		NM_145858		15	63	0	0	0	0.008871	0	15	63		
TTC3	7267	broad.mit.edu	37	21	38568048	38568048	+	Missense_Mutation	SNP	A	A	T	rs201341473		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr21:38568048A>T	ENST00000399017.2	+	42	8037	c.5290A>T	c.(5290-5292)Act>Tct	p.T1764S	TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000355666.1_Missense_Mutation_p.T1764S|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.T1764S	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1764					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AAGCGACGTGACTGGAAACCA	0.587													A|||	1	0.000199681	0.0	0.0	5008	,	,		19157	0.001		0.0	False		,,,				2504	0.0				Ovarian(38;194 1649 35661)	uc002yvz.2		NaN																	0				skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(5290-5292)ACT>TCT		tetratricopeptide repeat domain 3							153.0	152.0	152.0					21																	38568048		2203	4300	6503	SO:0001583	missense	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38568048A>T	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5290A>T	21.37:g.38568048A>T	ENSP00000381981:p.Thr1764Ser					TTC3_uc002ywa.2_Missense_Mutation_p.T1764S|TTC3_uc002ywb.2_Missense_Mutation_p.T1764S|TTC3_uc010gnf.2_Missense_Mutation_p.T1529S|TTC3_uc002ywc.2_Missense_Mutation_p.T1454S	p.T1764S	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			42	5395	+		Myeloproliferative disorder(46;0.0412)	1764					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	37	c.5290A>T	CCDS13651.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	A|A	13.40|13.40	2.224922|2.224922	0.39300|0.39300	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000428693|ENST00000355666;ENST00000399017;ENST00000354749	.|T;T;T	.|0.09255	.|3.0;3.0;3.0	3.95|3.95	-3.52|-3.52	0.04682|0.04682	.|.	.|1.271040	.|0.05527	.|N	.|0.563340	T|T	0.11239|0.11239	0.0274|0.0274	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	.|B	.|0.15473	.|0.013	.|B	.|0.13407	.|0.009	T|T	0.42548|0.42548	-0.9445|-0.9445	5|10	.|0.51188	.|T	.|0.08	0.189|0.189	5.7822|5.7822	0.18312|0.18312	0.4117:0.171:0.4173:0.0|0.4117:0.171:0.4173:0.0	.|.	.|1764	.|P53804	.|TTC3_HUMAN	V|S	55|1764	.|ENSP00000347889:T1764S;ENSP00000381981:T1764S;ENSP00000346791:T1764S	.|ENSP00000346791:T1764S	D|T	+|+	2|1	0|0	TTC3|TTC3	37489918|37489918	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.231000|0.231000	0.25187|0.25187	-0.468000|-0.468000	0.06656|0.06656	-0.567000|-0.567000	0.06046|0.06046	0.383000|0.383000	0.25322|0.25322	GAC|ACT		0.587	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1				18	105	0	0	0	0.007413	0	18	105		
PRDM15	63977	broad.mit.edu	37	21	43291624	43291624	+	Missense_Mutation	SNP	G	G	A	rs374855659		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr21:43291624G>A	ENST00000269844.3	-	4	630	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	PRDM15_ENST00000422911.1_Intron|AP001619.3_ENST00000458654.1_RNA|PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000538201.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	174					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCAGGATTGCGTCGCAGGCCT	0.592																																						uc002yzq.1		NaN																	0					0						c.(520-522)CGC>TGC		PR domain containing 15 isoform 1		G	,CYS/ARG	0,4406		0,0,2203	110.0	97.0	101.0		,520	-1.9	0.0	21		101	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	PRDM15	NM_001040424.1,NM_022115.3	,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign	,174/1508	43291624	1,13005	2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43291624G>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.520C>T	21.37:g.43291624G>A	ENSP00000269844:p.Arg174Cys					PRDM15_uc002yzo.2_Intron|PRDM15_uc002yzp.2_Intron|PRDM15_uc002yzr.1_Intron	p.R174C	NM_022115	NP_071398	P57071	PRD15_HUMAN			4	631	-			174					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.520C>T	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	G	0.902	-0.722023	0.03182	0.0	1.16E-4	ENSG00000141956	ENST00000269844	T	0.11169	2.8	0.941	-1.88	0.07713	.	.	.	.	.	T	0.04724	0.0128	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35895	-0.9770	9	0.87932	D	0	.	3.74	0.08526	0.2074:0.4509:0.3417:0.0	.	174	P57071	PRD15_HUMAN	C	174	ENSP00000269844:R174C	ENSP00000269844:R174C	R	-	1	0	PRDM15	42164693	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.566000	0.02148	-1.406000	0.02045	-0.643000	0.03959	CGC		0.592	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_022115		24	61	0	0	0	0.007291	0	24	61		
C21orf2	755	broad.mit.edu	37	21	45751736	45751736	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr21:45751736C>G	ENST00000339818.4	-	5	742	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	C21orf2_ENST00000325223.7_Missense_Mutation_p.E179Q|AP001062.8_ENST00000422357.1_RNA|AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000397956.3_Missense_Mutation_p.E179Q|C21orf2_ENST00000496321.1_5'UTR	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	179					cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				endometrium(2)	2				Colorectal(79;0.0806)		GTTGCCTCCTCCTCGCTGTCC	0.692																																						uc002zep.2		NaN																	0					0						c.(535-537)GAG>CAG		hypothetical protein LOC755							31.0	29.0	30.0					21																	45751736		2202	4300	6502	SO:0001583	missense	755							g.chr21:45751736C>G	Y11392	CCDS13709.1, CCDS59444.1, CCDS59445.1	21q22.3	2014-03-24			ENSG00000160226	ENSG00000160226			1260	protein-coding gene	gene with protein product	"""nuclear encoded mitochondrial protein"", ""leucine rich repeat containing 76"""	603191				9465297	Standard	NM_004928		Approved	YF5, A2, LRRC76	uc002zeq.2	O43822	OTTHUMG00000086909	ENST00000339818.4:c.535G>C	21.37:g.45751736C>G	ENSP00000344566:p.Glu179Gln					C21orf2_uc002zeo.1_Missense_Mutation_p.E138Q|C21orf2_uc002zeq.2_Missense_Mutation_p.E179Q|C21orf2_uc002zer.2_Missense_Mutation_p.E179Q	p.E179Q	NM_004928	NP_004919	O43822	CU002_HUMAN		Colorectal(79;0.0806)	5	743	-			179					A8MPS9|O14993|Q8N5X6|Q99837|Q99838	Missense_Mutation	SNP	ENST00000339818.4	37	c.535G>C	CCDS13709.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304173	0.40795	.	.	ENSG00000160226	ENST00000339818;ENST00000380160;ENST00000397956;ENST00000325223	T;T;T	0.37411	1.66;1.2;1.56	4.63	3.74	0.42951	.	0.269660	0.37261	N	0.002180	T	0.38295	0.1035	L	0.39898	1.24	0.09310	N	0.999995	D;D;P;P	0.58970	0.984;0.965;0.514;0.646	P;P;B;B	0.54372	0.75;0.63;0.084;0.23	T	0.13019	-1.0525	10	0.25751	T	0.34	-20.4774	9.8921	0.41296	0.0:0.9019:0.0:0.0981	.	179;179;179;138	G5E952;Q8N5X6;O43822;O43822-2	.;.;CU002_HUMAN;.	Q	179;215;179;179	ENSP00000344566:E179Q;ENSP00000381047:E179Q;ENSP00000317302:E179Q	ENSP00000317302:E179Q	E	-	1	0	C21orf2	44576164	0.370000	0.25047	0.009000	0.14445	0.187000	0.23431	3.371000	0.52379	1.081000	0.41110	0.591000	0.81541	GAG		0.692	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195799.1		NM_004928		3	12	0	0	0	0.009096	0	3	12		
GAB4	128954	broad.mit.edu	37	22	17447110	17447110	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:17447110G>A	ENST00000400588.1	-	6	1275	c.1168C>T	c.(1168-1170)Ctt>Ttt	p.L390F	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	390										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AAGCGAACAAGACATGAGCCC	0.607																																						uc002zlw.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1168-1170)CTT>TTT		GRB2-associated binding protein family, member							70.0	78.0	75.0					22																	17447110		2046	4211	6257	SO:0001583	missense	128954							g.chr22:17447110G>A	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1168C>T	22.37:g.17447110G>A	ENSP00000383431:p.Leu390Phe					GAB4_uc010gqs.1_3'UTR	p.L390F	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN			6	1276	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	390						Missense_Mutation	SNP	ENST00000400588.1	37	c.1168C>T	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	G	9.345	1.064108	0.20067	.	.	ENSG00000215568	ENST00000400588	T	0.31510	1.49	2.96	2.96	0.34315	.	0.184523	0.47852	D	0.000209	T	0.12732	0.0309	N	0.08118	0	0.25340	N	0.988959	P	0.39576	0.679	B	0.28638	0.092	T	0.14727	-1.0462	10	0.38643	T	0.18	.	12.0813	0.53671	0.0:0.0:1.0:0.0	.	390	Q2WGN9	GAB4_HUMAN	F	390	ENSP00000383431:L390F	ENSP00000383431:L390F	L	-	1	0	GAB4	15827110	1.000000	0.71417	0.027000	0.17364	0.030000	0.12068	7.196000	0.77805	1.582000	0.49881	0.411000	0.27672	CTT		0.607	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1		XM_372882		15	76	0	0	0	0.004007	0	15	76		
THAP7	80764	broad.mit.edu	37	22	21354959	21354959	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:21354959G>T	ENST00000215742.4	-	3	528	c.354C>A	c.(352-354)agC>agA	p.S118R	THAP7-AS1_ENST00000452284.1_RNA|THAP7_ENST00000399133.2_Missense_Mutation_p.S118R|THAP7-AS1_ENST00000436079.1_RNA|THAP7-AS1_ENST00000429962.1_RNA	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	118					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTCTGAGCCGGCTGACTTCAG	0.612																																						uc002ztr.1		NaN																	0					0						c.(352-354)AGC>AGA		THAP domain containing 7 isoform 2							110.0	102.0	105.0					22																	21354959		2203	4300	6503	SO:0001583	missense	80764				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding	g.chr22:21354959G>T	BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"""THAP (C2CH-type zinc finger) domain containing"""	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.354C>A	22.37:g.21354959G>T	ENSP00000215742:p.Ser118Arg					THAP7_uc002zts.1_Missense_Mutation_p.S118R|FLJ39582_uc002ztt.1_5'Flank|FLJ39582_uc002ztu.1_5'Flank|FLJ39582_uc002ztv.2_5'Flank	p.S118R	NM_001008695	NP_001008695	Q9BT49	THAP7_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		4	384	-	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	118					B2RD97|D3DX40	Missense_Mutation	SNP	ENST00000215742.4	37	c.354C>A	CCDS13787.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254230	0.22965	.	.	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.96200	-3.94;-3.94	4.03	1.85	0.25348	.	0.459681	0.17609	N	0.168150	D	0.87144	0.6104	N	0.14661	0.345	0.23282	N	0.997985	B	0.15141	0.012	B	0.10450	0.005	T	0.74163	-0.3754	10	0.16420	T	0.52	-30.6884	6.6624	0.23022	0.2277:0.0:0.7723:0.0	.	118	Q9BT49	THAP7_HUMAN	R	118	ENSP00000215742:S118R;ENSP00000382084:S118R	ENSP00000215742:S118R	S	-	3	2	THAP7	19684959	0.992000	0.36948	0.830000	0.32933	0.040000	0.13550	0.728000	0.26013	0.446000	0.26666	0.561000	0.74099	AGC		0.612	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320405.1		NM_030573		17	251	1	0	9.16793e-09	0.00499	9.64951e-09	17	251		
ZNF280B	140883	broad.mit.edu	37	22	22842526	22842526	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:22842526C>T	ENST00000406426.1	-	4	1940	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	ZNF280B_ENST00000360412.2_Missense_Mutation_p.E400K			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TAGGGCATTTCGCCAGGCTTA	0.433																																						uc002zwc.1		NaN																	0				ovary(2)	2						c.(1198-1200)GAA>AAA		zinc finger protein 280B							117.0	111.0	113.0					22																	22842526		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22842526C>T	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1198G>A	22.37:g.22842526C>T	ENSP00000385998:p.Glu400Lys					LOC96610_uc011aim.1_Intron	p.E400K	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	1974	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	400						Missense_Mutation	SNP	ENST00000406426.1	37	c.1198G>A	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382835	0.82792	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.34859	1.34;1.34	4.85	3.84	0.44239	.	.	.	.	.	T	0.52025	0.1709	M	0.71920	2.185	0.47476	D	0.999439	D	0.64830	0.994	P	0.59643	0.861	T	0.55347	-0.8155	9	0.56958	D	0.05	-14.3647	11.0776	0.48040	0.0:0.9097:0.0:0.0903	.	400	Q86YH2	Z280B_HUMAN	K	400	ENSP00000385998:E400K;ENSP00000353586:E400K	ENSP00000353586:E400K	E	-	1	0	ZNF280B	21172526	1.000000	0.71417	0.907000	0.35723	0.861000	0.49209	6.799000	0.75160	1.417000	0.47077	0.655000	0.94253	GAA		0.433	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2		NM_080764		42	236	0	0	0	0.013114	0	42	236		
SPECC1L	23384	broad.mit.edu	37	22	24761541	24761541	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:24761541G>A	ENST00000314328.9	+	13	3210	c.2925G>A	c.(2923-2925)caG>caA	p.Q975Q	SPECC1L_ENST00000437398.1_Silent_p.Q975Q|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|SPECC1L_ENST00000541492.1_Silent_p.Q975Q	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	975					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CGTCTCCACAGCTTTCCCTGT	0.512																																						uc002zzw.2		NaN																	0					0						c.(2923-2925)CAG>CAA		cytospin A							140.0	103.0	116.0					22																	24761541		2203	4300	6503	SO:0001819	synonymous_variant	23384				cell cycle|cell division			g.chr22:24761541G>A	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.2925G>A	22.37:g.24761541G>A						CYTSA_uc002zzv.3_Silent_p.Q975Q|CYTSA_uc011ajq.1_Silent_p.Q975Q	p.Q975Q	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN			13	3232	+			975					B7Z758|F5H1H6|O15081	Silent	SNP	ENST00000314328.9	37	c.2925G>A	CCDS33619.1																																																																																				0.512	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2		NM_015330		35	162	0	0	0	0.00874	0	35	162		
PISD	23761	broad.mit.edu	37	22	32017073	32017073	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:32017073G>C	ENST00000439502.2	-	6	976	c.753C>G	c.(751-753)ctC>ctG	p.L251L	PISD_ENST00000336566.4_Silent_p.L250L|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000397500.1_Silent_p.L217L|PISD_ENST00000382151.2_Silent_p.L217L|PISD_ENST00000266095.5_Silent_p.L217L			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	251					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	CACAGTGATAGAGCTCATTCC	0.627											OREG0003530	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003alm.3		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(751-753)CTC>CTG		phosphatidylserine decarboxylase	Phosphatidylserine(DB00144)						138.0	127.0	131.0					22																	32017073		2203	4300	6503	SO:0001819	synonymous_variant	23761				phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity	g.chr22:32017073G>C		CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.753C>G	22.37:g.32017073G>C			OREG0003530	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	829	PISD_uc003alk.2_Silent_p.L217L|PISD_uc003all.2_Silent_p.L216L|PISD_uc011alr.1_Silent_p.L216L|PISD_uc003aln.3_Silent_p.L251L	p.L251L	NM_014338	NP_055153	Q9UG56	PISD_HUMAN			6	760	-			251					B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Silent	SNP	ENST00000439502.2	37	c.753C>G		.	.	.	.	.	.	.	.	.	.	G	6.501	0.460576	0.12342	.	.	ENSG00000241878	ENST00000435900	.	.	.	5.03	1.61	0.23674	.	.	.	.	.	T	0.68760	0.3036	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66256	-0.5969	4	.	.	.	-39.3736	15.0602	0.71947	0.0:0.4073:0.5927:0.0	.	.	.	.	C	242	.	.	S	-	2	0	PISD	30347073	0.992000	0.36948	0.998000	0.56505	0.675000	0.39556	0.276000	0.18716	0.124000	0.18369	0.563000	0.77884	TCT		0.627	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4				24	77	0	0	0	0.00632	0	24	77		
SLC5A4	6527	broad.mit.edu	37	22	32626965	32626965	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:32626965C>G	ENST00000266086.4	-	10	1130	c.1119G>C	c.(1117-1119)ctG>ctC	p.L373L	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	373					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTGGGGCATCAGTTCCAGCA	0.537																																						uc003ami.2		NaN																	0					0						c.(1117-1119)CTG>CTC		solute carrier family 5 (low affinity glucose							97.0	74.0	82.0					22																	32626965		2203	4300	6503	SO:0001819	synonymous_variant	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32626965C>G	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1119G>C	22.37:g.32626965C>G							p.L373L	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			10	1121	-			373			Extracellular (Potential).		O15279	Silent	SNP	ENST00000266086.4	37	c.1119G>C	CCDS13903.1																																																																																				0.537	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1		NM_014227		14	44	0	0	0	0.006122	0	14	44		
RASD2	23551	broad.mit.edu	37	22	35947615	35947615	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:35947615C>T	ENST00000216127.4	+	3	979	c.337C>T	c.(337-339)Cag>Tag	p.Q113*		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	113					locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CAAGCGCCTTCAGAAGCAGAT	0.582																																						uc003anx.2		NaN																	0				lung(2)|skin(1)	3						c.(337-339)CAG>TAG		RASD family, member 2 precursor							105.0	99.0	101.0					22																	35947615		2203	4300	6503	SO:0001587	stop_gained	23551				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	g.chr22:35947615C>T	AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"""tumor endothelial marker 2"", ""Ras homolog enriched in striatum"""	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.337C>T	22.37:g.35947615C>T	ENSP00000216127:p.Gln113*					RASD2_uc003any.2_Nonsense_Mutation_p.Q113*	p.Q113*	NM_014310	NP_055125	Q96D21	RHES_HUMAN			3	542	+			113					O95520|Q5THY8	Nonsense_Mutation	SNP	ENST00000216127.4	37	c.337C>T	CCDS13916.1	.	.	.	.	.	.	.	.	.	.	C	42	9.618127	0.99220	.	.	ENSG00000100302	ENST00000216127	.	.	.	5.47	5.47	0.80525	.	0.096812	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	14.1935	0.65654	0.1496:0.8504:0.0:0.0	.	.	.	.	X	113	.	ENSP00000216127:Q113X	Q	+	1	0	RASD2	34277561	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	4.659000	0.61504	2.571000	0.86741	0.561000	0.74099	CAG		0.582	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1		NM_014310		26	42	0	0	0	0.004656	0	26	42		
POLDIP3	84271	broad.mit.edu	37	22	42998059	42998059	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr22:42998059G>A	ENST00000252115.5	-	3	558	c.454C>T	c.(454-456)Cca>Tca	p.P152S	POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000348657.2_Intron|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000451060.2_5'UTR	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	152					poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						TTCTGCTGTGGAACCTGGAAA	0.507																																					Ovarian(52;967 1128 5875 19997 42537)	uc003bcu.2		NaN																	0					0						c.(454-456)CCA>TCA		DNA polymerase delta interacting protein 3							208.0	182.0	191.0					22																	42998059		2203	4300	6503	SO:0001583	missense	84271				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr22:42998059G>A		CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"""RNA binding motif (RRM) containing"""	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.454C>T	22.37:g.42998059G>A	ENSP00000252115:p.Pro152Ser					POLDIP3_uc011app.1_Missense_Mutation_p.P73S|POLDIP3_uc003bcv.2_Intron|POLDIP3_uc011apq.1_Missense_Mutation_p.P169S|POLDIP3_uc010gza.2_RNA|POLDIP3_uc011apr.1_Intron|POLDIP3_uc010gzb.1_Intron	p.P152S	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN			3	553	-			152					A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Missense_Mutation	SNP	ENST00000252115.5	37	c.454C>T	CCDS14038.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.640856	0.67244	.	.	ENSG00000100227	ENST00000252115	.	.	.	5.28	5.28	0.74379	.	0.303370	0.31381	N	0.007741	T	0.47173	0.1431	L	0.48642	1.525	0.80722	D	1	B;B;B	0.27997	0.051;0.197;0.079	B;B;B	0.21917	0.01;0.037;0.021	T	0.38222	-0.9671	9	0.15499	T	0.54	-13.3536	12.9472	0.58379	0.0787:0.0:0.9213:0.0	.	169;148;152	B4E0L0;Q96DI9;Q9BY77	.;.;PDIP3_HUMAN	S	152	.	ENSP00000252115:P152S	P	-	1	0	POLDIP3	41328003	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.326000	0.43849	2.455000	0.83008	0.561000	0.74099	CCA		0.507	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1		NM_032311		44	71	0	0	0	0.01441	0	44	71		
ATP2B2	491	broad.mit.edu	37	3	10379906	10379906	+	Missense_Mutation	SNP	C	C	T	rs370895383		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:10379906C>T	ENST00000352432.4	-	21	3443	c.3374G>A	c.(3373-3375)cGg>cAg	p.R1125Q	ATP2B2_ENST00000397077.1_Missense_Mutation_p.R1080Q|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R1080Q|ATP2B2_ENST00000467702.2_5'Flank|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R1125Q|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R1111Q			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1125	Calmodulin-binding subdomain A. {ECO:0000250}.				auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GATCTGGCCCCGCCGCAGCTC	0.682																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3373-3375)CGG>CAG		plasma membrane calcium ATPase 2 isoform 1		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	59.0	61.0	61.0		3374,3239	3.7	0.9	3		61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ATP2B2	NM_001001331.2,NM_001683.3	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1125/1244,1080/1199	10379906	1,13005	2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10379906C>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.3374G>A	3.37:g.10379906C>T	ENSP00000324172:p.Arg1125Gln					ATP2B2_uc003bvv.2_Missense_Mutation_p.R1080Q|ATP2B2_uc003bvw.2_Missense_Mutation_p.R1080Q|ATP2B2_uc003bvs.2_5'Flank|ATP2B2_uc010hdo.2_Missense_Mutation_p.R830Q	p.R1125Q	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			22	3813	-			1125			Calmodulin-binding subdomain A (By similarity).|Cytoplasmic (Potential).		O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.3374G>A	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	32	5.188116	0.94923	0.0	1.16E-4	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000429937;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03;-3.02;-3.02	4.62	3.74	0.42951	.	0.000000	0.85682	D	0.000000	D	0.95033	0.8392	M	0.76574	2.34	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.983;0.986	D;B;P	0.71870	0.975;0.389;0.827	D	0.94757	0.7932	10	0.66056	D	0.02	-22.5382	12.2446	0.54563	0.0:0.9173:0.0:0.0827	.	1060;1092;1125	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	Q	1125;1080;1080;1125;1111;1060;314;981;1125	ENSP00000324172:R1125Q;ENSP00000373311:R1080Q;ENSP00000380267:R1080Q;ENSP00000353414:R1125Q;ENSP00000344677:R1111Q;ENSP00000414854:R981Q	ENSP00000342954:R1125Q	R	-	2	0	ATP2B2	10354906	1.000000	0.71417	0.912000	0.35992	0.965000	0.64279	7.773000	0.85462	0.948000	0.37687	0.561000	0.74099	CGG		0.682	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2		NM_001683		12	233	0	0	0	0.00245	0	12	233		
ZNF385D	79750	broad.mit.edu	37	3	21706481	21706481	+	Missense_Mutation	SNP	C	C	T	rs571099747		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:21706481C>T	ENST00000281523.2	-	2	580	c.62G>A	c.(61-63)cGt>cAt	p.R21H	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	21						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGCTGGTGGACGGACAAGGGC	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		17923	0.0		0.001	False		,,,				2504	0.0					uc003cce.2		NaN																	0				large_intestine(2)|skin(2)|ovary(1)	5						c.(61-63)CGT>CAT		zinc finger protein 385D							77.0	72.0	73.0					3																	21706481		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21706481C>T	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.62G>A	3.37:g.21706481C>T	ENSP00000281523:p.Arg21His					ZNF385D_uc010hfb.1_Intron	p.R21H	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN			2	470	-			21						Missense_Mutation	SNP	ENST00000281523.2	37	c.62G>A	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106592	0.56291	.	.	ENSG00000151789	ENST00000281523	T	0.33654	1.4	5.62	4.75	0.60458	.	0.129051	0.52532	N	0.000066	T	0.35189	0.0923	L	0.55481	1.735	0.38752	D	0.954131	B	0.09022	0.002	B	0.04013	0.001	T	0.23048	-1.0199	10	0.51188	T	0.08	-8.954	13.2857	0.60241	0.0:0.924:0.0:0.076	.	21	Q9H6B1	Z385D_HUMAN	H	21	ENSP00000281523:R21H	ENSP00000281523:R21H	R	-	2	0	ZNF385D	21681485	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	4.054000	0.57434	1.376000	0.46267	0.591000	0.81541	CGT		0.517	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1		NM_024697		15	45	0	0	0	0.004007	0	15	45		
VILL	50853	broad.mit.edu	37	3	38042961	38042961	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:38042961G>A	ENST00000283713.6	+	12	1463	c.1197G>A	c.(1195-1197)caG>caA	p.Q399Q	VILL_ENST00000383759.2_Silent_p.Q399Q|VILL_ENST00000465644.1_Silent_p.Q117Q			O15195	VILL_HUMAN	villin-like	399					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGTGCATCCAGGACTTACACA	0.602																																						uc003chj.2		NaN																	0					0						c.(1195-1197)CAG>CAA		villin-like protein							100.0	87.0	91.0					3																	38042961		2203	4300	6503	SO:0001819	synonymous_variant	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38042961G>A		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1197G>A	3.37:g.38042961G>A						VILL_uc003chl.2_Silent_p.Q399Q|VILL_uc010hgu.2_Silent_p.Q229Q	p.Q399Q	NM_015873	NP_056957	O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	12	1483	+			399					A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	c.1197G>A	CCDS2670.2																																																																																				0.602	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3		NM_015873		12	79	0	0	0	0.013537	0	12	79		
VILL	50853	broad.mit.edu	37	3	38043072	38043072	+	Silent	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:38043072G>T	ENST00000283713.6	+	12	1574	c.1308G>T	c.(1306-1308)ctG>ctT	p.L436L	VILL_ENST00000383759.2_Silent_p.L436L|VILL_ENST00000465644.1_Silent_p.L154L			O15195	VILL_HUMAN	villin-like	436					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGTACATCCTGTACCTATGGC	0.607																																						uc003chj.2		NaN																	0					0						c.(1306-1308)CTG>CTT		villin-like protein							86.0	81.0	83.0					3																	38043072		2203	4300	6503	SO:0001819	synonymous_variant	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38043072G>T		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1308G>T	3.37:g.38043072G>T						VILL_uc003chl.2_Silent_p.L436L|VILL_uc010hgu.2_Silent_p.L266L	p.L436L	NM_015873	NP_056957	O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	12	1594	+			436			Gelsolin-like 4.		A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	c.1308G>T	CCDS2670.2																																																																																				0.607	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3		NM_015873		16	96	1	0	1.33834e-09	0.007413	1.41414e-09	16	96		
VILL	50853	broad.mit.edu	37	3	38043288	38043288	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:38043288G>A	ENST00000283713.6	+	13	1682	c.1416G>A	c.(1414-1416)gtG>gtA	p.V472V	VILL_ENST00000383759.2_Silent_p.V472V|VILL_ENST00000465644.1_Silent_p.V190V			O15195	VILL_HUMAN	villin-like	472					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGGAGCATGTGACCATGGGCA	0.607																																						uc003chj.2		NaN																	0					0						c.(1414-1416)GTG>GTA		villin-like protein							153.0	132.0	139.0					3																	38043288		2203	4300	6503	SO:0001819	synonymous_variant	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38043288G>A		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1416G>A	3.37:g.38043288G>A						VILL_uc003chl.2_Silent_p.V472V|VILL_uc010hgu.2_Silent_p.V302V	p.V472V	NM_015873	NP_056957	O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	13	1702	+			472					A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	c.1416G>A	CCDS2670.2																																																																																				0.607	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3		NM_015873		10	68	0	0	0	0.013537	0	10	68		
WDR48	57599	broad.mit.edu	37	3	39135477	39135477	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:39135477G>A	ENST00000302313.5	+	18	1886	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	WDR48_ENST00000418020.1_Missense_Mutation_p.E62K|WDR48_ENST00000396258.3_Missense_Mutation_p.E538K|WDR48_ENST00000544962.1_Missense_Mutation_p.E345K|WDR48_ENST00000466405.1_3'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	620					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTCTAATAATGAAAAACCAGG	0.383																																						uc003cit.2		NaN																	0				ovary(1)|breast(1)	2						c.(1858-1860)GAA>AAA		WD repeat domain 48							83.0	83.0	83.0					3																	39135477		2203	4300	6503	SO:0001583	missense	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39135477G>A	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.1858G>A	3.37:g.39135477G>A	ENSP00000307491:p.Glu620Lys					WDR48_uc011ayt.1_Missense_Mutation_p.E611K|WDR48_uc011ayu.1_Missense_Mutation_p.E538K|WDR48_uc011ayv.1_Missense_Mutation_p.E345K|WDR48_uc003ciu.2_RNA	p.E620K	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	18	1868	+			620					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	37	c.1858G>A	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482766	0.44147	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258;ENST00000418020	T;D;T	0.88664	1.19;-2.41;0.91	5.22	5.22	0.72569	.	0.046791	0.85682	D	0.000000	T	0.79868	0.4520	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.10296	0.003;0.0;0.0;0.0	B;B;B;B	0.10450	0.005;0.001;0.001;0.001	T	0.74441	-0.3664	10	0.06891	T	0.86	-19.6488	19.1495	0.93482	0.0:0.0:1.0:0.0	.	345;538;611;620	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	K	620;345;538;62	ENSP00000307491:E620K;ENSP00000445187:E345K;ENSP00000379557:E538K	ENSP00000307491:E620K	E	+	1	0	WDR48	39110481	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.596000	0.87737	0.655000	0.94253	GAA		0.383	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1		NM_020839		9	23	0	0	0	0.008291	0	9	23		
WDR48	57599	broad.mit.edu	37	3	39135489	39135489	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:39135489G>A	ENST00000302313.5	+	18	1898	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K	WDR48_ENST00000418020.1_Missense_Mutation_p.E66K|WDR48_ENST00000396258.3_Missense_Mutation_p.E542K|WDR48_ENST00000544962.1_Missense_Mutation_p.E349K|WDR48_ENST00000466405.1_3'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	624					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AAAACCAGGAGAACAGGAAAA	0.388																																						uc003cit.2		NaN																	0				ovary(1)|breast(1)	2						c.(1870-1872)GAA>AAA		WD repeat domain 48							85.0	85.0	85.0					3																	39135489		2203	4300	6503	SO:0001583	missense	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39135489G>A	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.1870G>A	3.37:g.39135489G>A	ENSP00000307491:p.Glu624Lys					WDR48_uc011ayt.1_Missense_Mutation_p.E615K|WDR48_uc011ayu.1_Missense_Mutation_p.E542K|WDR48_uc011ayv.1_Missense_Mutation_p.E349K|WDR48_uc003ciu.2_RNA	p.E624K	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	18	1880	+			624					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	37	c.1870G>A	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.594414	0.46214	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258;ENST00000418020	T;D;T	0.88664	1.18;-2.41;0.9	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.90714	0.7086	L	0.40543	1.245	0.80722	D	1	D;B;B;B	0.67145	0.996;0.325;0.325;0.216	D;B;B;B	0.73708	0.981;0.108;0.108;0.119	D	0.85637	0.1274	10	0.06365	T	0.9	-27.4128	19.1495	0.93482	0.0:0.0:1.0:0.0	.	349;542;615;624	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	K	624;349;542;66	ENSP00000307491:E624K;ENSP00000445187:E349K;ENSP00000379557:E542K	ENSP00000307491:E624K	E	+	1	0	WDR48	39110493	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.596000	0.87737	0.655000	0.94253	GAA		0.388	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1		NM_020839		9	25	0	0	0	0.006214	0	9	25		
CCR8	1237	broad.mit.edu	37	3	39374203	39374203	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:39374203G>A	ENST00000326306.4	+	2	519	c.381G>A	c.(379-381)atG>atA	p.M127I	CCR8_ENST00000414803.1_Missense_Mutation_p.E70K|CCR8_ENST00000545843.1_Missense_Mutation_p.M44I	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	127					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TCACCCTCATGAGTGTGGACA	0.512																																						uc010hhr.2		NaN																	0				ovary(1)|lung(1)	2						c.(379-381)ATG>ATA		chemokine (C-C motif) receptor 8							222.0	205.0	211.0					3																	39374203		2203	4300	6503	SO:0001583	missense	1237				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	g.chr3:39374203G>A	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.381G>A	3.37:g.39374203G>A	ENSP00000326432:p.Met127Ile					CCR8_uc003cjm.2_Missense_Mutation_p.M44I	p.M127I	NM_005201	NP_005192	P51685	CCR8_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)	2	519	+			127			Helical; Name=3; (Potential).		B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	ENST00000326306.4	37	c.381G>A	CCDS2684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.85|13.85	2.359427|2.359427	0.41801|0.41801	.|.	.|.	ENSG00000179934|ENSG00000179934	ENST00000414803|ENST00000326306;ENST00000545843	T|T;T	0.16196|0.61158	2.36|0.13;0.13	4.82|4.82	3.95|3.95	0.45737|0.45737	.|GPCR, rhodopsin-like superfamily (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60766|0.60766	0.2294|0.2294	L|L	0.33189|0.33189	0.99|0.99	0.58432|0.58432	D|D	0.999994|0.999994	.|P;P	.|0.52061	.|0.95;0.95	.|P;P	.|0.58266	.|0.836;0.773	T|T	0.64326|0.64326	-0.6434|-0.6434	7|10	0.87932|0.87932	D|D	0|0	.|.	11.988|11.988	0.53159|0.53159	0.085:0.0:0.915:0.0|0.085:0.0:0.915:0.0	.|.	.|127;44	.|P51685;Q3KNR3	.|CCR8_HUMAN;.	K|I	70|127;44	ENSP00000390104:E70K|ENSP00000326432:M127I;ENSP00000440474:M44I	ENSP00000390104:E70K|ENSP00000326432:M127I	E|M	+|+	1|3	0|0	CCR8|CCR8	39349207|39349207	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.099000|6.099000	0.71466|0.71466	1.257000|1.257000	0.44085|0.44085	0.563000|0.563000	0.77884|0.77884	GAG|ATG		0.512	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2		NM_005201		75	200	0	0	0	0.01441	0	75	200		
CCR8	1237	broad.mit.edu	37	3	39374254	39374254	+	Silent	SNP	G	G	A	rs185479501		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:39374254G>A	ENST00000326306.4	+	2	570	c.432G>A	c.(430-432)gtG>gtA	p.V144V	CCR8_ENST00000414803.1_Missense_Mutation_p.E87K|CCR8_ENST00000545843.1_Silent_p.V61V	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	144					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CCCTAAAGGTGAGGACGATCA	0.502																																						uc010hhr.2		NaN																	0				ovary(1)|lung(1)	2						c.(430-432)GTG>GTA		chemokine (C-C motif) receptor 8							238.0	214.0	222.0					3																	39374254		2203	4300	6503	SO:0001819	synonymous_variant	1237				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	g.chr3:39374254G>A	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.432G>A	3.37:g.39374254G>A						CCR8_uc003cjm.2_Silent_p.V61V	p.V144V	NM_005201	NP_005192	P51685	CCR8_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)	2	570	+			144			Cytoplasmic (Potential).		B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Silent	SNP	ENST00000326306.4	37	c.432G>A	CCDS2684.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326284	0.24080	.	.	ENSG00000179934	ENST00000414803	T	0.18502	2.21	4.76	2.91	0.33838	.	.	.	.	.	T	0.22704	0.0548	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.03249	-1.1056	6	0.87932	D	0	.	3.5922	0.07993	0.0894:0.3118:0.4386:0.1602	.	.	.	.	K	87	ENSP00000390104:E87K	ENSP00000390104:E87K	E	+	1	0	CCR8	39349258	0.232000	0.23762	0.986000	0.45419	0.675000	0.39556	-0.077000	0.11394	0.574000	0.29417	0.655000	0.94253	GAG		0.502	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2		NM_005201		65	197	0	0	0	0.01441	0	65	197		
TRAK1	22906	broad.mit.edu	37	3	42242499	42242499	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:42242499C>A	ENST00000327628.5	+	12	1780	c.1380C>A	c.(1378-1380)gaC>gaA	p.D460E	TRAK1_ENST00000449246.1_Missense_Mutation_p.D386E|TRAK1_ENST00000396175.1_Missense_Mutation_p.D402E|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Missense_Mutation_p.D402E	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	460	Interaction with HGS.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TCGTCCTCGACAACAAGACCA	0.577																																					GBM(44;195 884 22595 31865 41850)	uc003cky.2		NaN																	0				ovary(1)	1						c.(1378-1380)GAC>GAA		OGT(O-Glc-NAc transferase)-interacting protein							74.0	73.0	73.0					3																	42242499		2203	4300	6503	SO:0001583	missense	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42242499C>A		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1380C>A	3.37:g.42242499C>A	ENSP00000328998:p.Asp460Glu					TRAK1_uc011azh.1_Missense_Mutation_p.D460E|TRAK1_uc011azi.1_Missense_Mutation_p.D460E|TRAK1_uc003ckz.3_Missense_Mutation_p.D386E|TRAK1_uc011azj.1_Missense_Mutation_p.D386E|TRAK1_uc003cla.2_Missense_Mutation_p.D402E	p.D460E	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN			12	1596	+			460			Interaction with HGS.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.1380C>A	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705319	0.48412	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421;ENST00000427771	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.85	3.05	0.35203	Trafficking kinesin-binding protein domain (1);	0.226071	0.42964	D	0.000637	T	0.35885	0.0947	L	0.36672	1.1	0.53005	D	0.999967	P;P;P;P;P;P	0.50819	0.78;0.822;0.939;0.739;0.892;0.913	B;P;P;B;B;P	0.51453	0.334;0.492;0.67;0.291;0.298;0.574	T	0.17623	-1.0363	10	0.07813	T	0.8	.	8.7016	0.34329	0.0:0.7049:0.0:0.2951	.	386;402;460;402;386;460	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	E	460;460;386;402;402;178	ENSP00000328998:D460E;ENSP00000410717:D386E;ENSP00000379478:D402E;ENSP00000340702:D402E;ENSP00000413729:D178E	ENSP00000328998:D460E	D	+	3	2	TRAK1	42217503	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	2.483000	0.45233	0.797000	0.33971	0.655000	0.94253	GAC		0.577	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1		NM_014965		29	86	1	0	3.00307e-07	0.008361	3.14247e-07	29	86		
NKTR	4820	broad.mit.edu	37	3	42679601	42679601	+	Missense_Mutation	SNP	G	G	C	rs551626522		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:42679601G>C	ENST00000232978.8	+	13	2593	c.2405G>C	c.(2404-2406)aGa>aCa	p.R802T	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	802	Arg/Ser-rich.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AGCGAGAGCAGATCATCTTTA	0.423																																						uc003clo.2		NaN																	0				ovary(2)|skin(1)	3						c.(2404-2406)AGA>ACA		natural killer-tumor recognition sequence							96.0	99.0	98.0					3																	42679601		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42679601G>C		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.2405G>C	3.37:g.42679601G>C	ENSP00000232978:p.Arg802Thr					NKTR_uc003clm.1_Missense_Mutation_p.R549T|NKTR_uc003clp.2_Missense_Mutation_p.R549T|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.R692T|NKTR_uc003clr.1_Missense_Mutation_p.R549T|NKTR_uc003cls.2_Missense_Mutation_p.R502T	p.R802T	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	2552	+			802			Arg/Ser-rich.			Missense_Mutation	SNP	ENST00000232978.8	37	c.2405G>C	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	G	6.916	0.538571	0.13250	.	.	ENSG00000114857	ENST00000232978	T	0.12361	2.69	5.58	3.52	0.40303	.	0.640480	0.16562	N	0.208989	T	0.13286	0.0322	L	0.50333	1.59	0.80722	D	1	P;P	0.41848	0.763;0.454	B;B	0.41619	0.361;0.15	T	0.01323	-1.1385	10	0.38643	T	0.18	-22.0611	6.7658	0.23566	0.0815:0.1223:0.656:0.1402	.	502;802	Q6M1B8;P30414	.;NKTR_HUMAN	T	802	ENSP00000232978:R802T	ENSP00000232978:R802T	R	+	2	0	NKTR	42654605	0.002000	0.14202	1.000000	0.80357	0.289000	0.27227	0.920000	0.28705	2.627000	0.88993	0.591000	0.81541	AGA		0.423	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2		NM_005385		36	84	0	0	0	0.004878	0	36	84		
POMGNT2	84892	broad.mit.edu	37	3	43121671	43121671	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:43121671T>C	ENST00000344697.2	-	2	1598	c.1253A>G	c.(1252-1254)gAc>gGc	p.D418G	POMGNT2_ENST00000441964.1_Missense_Mutation_p.D418G	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	418					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										CTCAGCCCGGTCCAGATGGGT	0.612																																						uc003cmq.1		NaN																	0				ovary(1)|skin(1)	2						c.(1252-1254)GAC>GGC		glycosyltransferase precursor							44.0	43.0	43.0					3																	43121671		2203	4300	6503	SO:0001583	missense	84892					extracellular region	transferase activity, transferring glycosyl groups	g.chr3:43121671T>C	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.1253A>G	3.37:g.43121671T>C	ENSP00000344125:p.Asp418Gly					C3orf39_uc003cmr.1_Missense_Mutation_p.D418G	p.D418G	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)	2	1394	-			418					B3KWC3|Q96SY3	Missense_Mutation	SNP	ENST00000344697.2	37	c.1253A>G	CCDS2709.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.911355	0.52439	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.79033	-1.23;-1.23	5.53	5.53	0.82687	.	0.099776	0.64402	D	0.000002	T	0.75459	0.3852	L	0.59436	1.845	0.51233	D	0.99991	B	0.26635	0.155	B	0.26614	0.071	T	0.74532	-0.3634	10	0.59425	D	0.04	-20.795	14.8888	0.70590	0.0:0.0:0.0:1.0	.	418	Q8NAT1	AGO61_HUMAN	G	418	ENSP00000408992:D418G;ENSP00000344125:D418G	ENSP00000344125:D418G	D	-	2	0	C3orf39	43096675	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	6.186000	0.72026	2.112000	0.64535	0.529000	0.55759	GAC		0.612	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1		NM_032806		6	24	0	0	0	0.00308	0	6	24		
ZDHHC3	51304	broad.mit.edu	37	3	44968315	44968315	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:44968315C>T	ENST00000424952.2	-	7	1034	c.766G>A	c.(766-768)Gag>Aag	p.E256K	ZDHHC3_ENST00000296127.3_Missense_Mutation_p.E284K|ZDHHC3_ENST00000342790.4_Missense_Mutation_p.E290K	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	256					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		CATCTTCTCTCTTCCTTTTTC	0.478																																						uc003cod.2		NaN																	0					0						c.(850-852)GAG>AAG		zinc finger, DHHC-type containing 3 isoform 2							126.0	116.0	119.0					3																	44968315		2203	4300	6503	SO:0001583	missense	51304					Golgi membrane|integral to membrane	zinc ion binding	g.chr3:44968315C>T	AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"""Zinc fingers, DHHC-type"""	18470	protein-coding gene	gene with protein product	"""golgi-specific DHHC Zinc Finger Protein"""					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.766G>A	3.37:g.44968315C>T	ENSP00000395502:p.Glu256Lys					ZDHHC3_uc003cog.2_Missense_Mutation_p.E256K|ZDHHC3_uc011bad.1_Intron	p.E284K	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)	8	1124	-			284			Cytoplasmic (Potential).		Q53A17|Q96BL0	Missense_Mutation	SNP	ENST00000424952.2	37	c.850G>A	CCDS46811.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946645	0.53186	.	.	ENSG00000163812	ENST00000296127;ENST00000424952;ENST00000342790	T;T;T	0.56941	1.17;1.41;0.43	5.82	5.82	0.92795	.	0.092240	0.85682	D	0.000000	T	0.41811	0.1175	L	0.33753	1.03	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.40942	-0.9536	10	0.02654	T	1	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	256;284	Q9NYG2-2;Q9NYG2	.;ZDHC3_HUMAN	K	284;256;290	ENSP00000296127:E284K;ENSP00000395502:E256K;ENSP00000345268:E290K	ENSP00000296127:E284K	E	-	1	0	ZDHHC3	44943319	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.610000	0.82949	2.767000	0.95098	0.655000	0.94253	GAG		0.478	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347004.1		NM_016598		9	52	0	0	0	0.008291	0	9	52		
DNAH1	25981	broad.mit.edu	37	3	52429361	52429361	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:52429361C>G	ENST00000420323.2	+	69	11267	c.11006C>G	c.(11005-11007)tCc>tGc	p.S3669C		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3734					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACTCCAACTCCACCACACCC	0.567																																						uc011bef.1		NaN																	0				large_intestine(3)	3						c.(11005-11007)TCC>TGC		dynein, axonemal, heavy chain 1							57.0	56.0	56.0					3																	52429361		2029	4179	6208	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52429361C>G	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.11006C>G	3.37:g.52429361C>G	ENSP00000401514:p.Ser3669Cys					DNAH1_uc003ddv.2_Missense_Mutation_p.S527C	p.S3669C	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	69	11267	+			3734			AAA 6 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.11006C>G	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503528	0.64298	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.09163	3.01	4.9	4.9	0.64082	.	0.276977	0.29868	N	0.011000	T	0.11239	0.0274	N	0.11255	0.115	0.34556	D	0.711804	B;D	0.67145	0.002;0.996	B;P	0.56216	0.012;0.794	T	0.07462	-1.0771	10	0.06494	T	0.89	.	18.1022	0.89509	0.0:1.0:0.0:0.0	.	3669;3734	C9JXH6;Q9P2D7-2	.;.	C	3669;422	ENSP00000401514:S3669C	ENSP00000273600:S422C	S	+	2	0	DNAH1	52404401	0.626000	0.27120	0.994000	0.49952	0.846000	0.48090	5.761000	0.68801	2.263000	0.75096	0.655000	0.94253	TCC		0.567	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1		NM_015512		12	44	0	0	0	0.00499	0	12	44		
PBRM1	55193	broad.mit.edu	37	3	52651349	52651349	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:52651349C>T	ENST00000296302.7	-	14	1748	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	PBRM1_ENST00000410007.1_Missense_Mutation_p.E583K|PBRM1_ENST00000409057.1_Missense_Mutation_p.E583K|PBRM1_ENST00000409114.3_Missense_Mutation_p.E598K|PBRM1_ENST00000337303.4_Missense_Mutation_p.E583K|PBRM1_ENST00000356770.4_Missense_Mutation_p.E551K|PBRM1_ENST00000394830.3_Missense_Mutation_p.E583K|PBRM1_ENST00000409767.1_Missense_Mutation_p.E598K			Q86U86	PB1_HUMAN	polybromo 1	583	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATTCCCTCTTCACCAGCATAT	0.443			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2		NaN		Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		0				kidney(136)|breast(4)	140						c.(1747-1749)GAA>AAA		polybromo 1 isoform 4							116.0	107.0	110.0					3																	52651349		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52651349C>T	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1747G>A	3.37:g.52651349C>T	ENSP00000296302:p.Glu583Lys					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.E583K|PBRM1_uc003der.2_Missense_Mutation_p.E551K|PBRM1_uc003det.2_Missense_Mutation_p.E598K|PBRM1_uc003deu.2_Missense_Mutation_p.E598K|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.E583K|PBRM1_uc010hmk.1_Missense_Mutation_p.E583K|PBRM1_uc003dey.2_Missense_Mutation_p.E583K|PBRM1_uc003dez.1_Missense_Mutation_p.E583K|PBRM1_uc003dfb.1_Missense_Mutation_p.E496K|PBRM1_uc003dfc.2_5'Flank	p.E583K	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	14	1759	-			583			Bromo 4.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.1747G>A		.	.	.	.	.	.	.	.	.	.	C	26.8	4.771765	0.90108	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.84	5.84	0.93424	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.45054	0.1323	N	0.21097	0.63	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;0.999;0.986;1.0;1.0;0.999;0.999	D;D;D;D;P;D;D;D;D	0.97110	0.997;0.998;0.986;0.996;0.841;0.998;1.0;0.994;0.994	T	0.31194	-0.9952	10	0.44086	T	0.13	-15.9975	20.139	0.98050	0.0:1.0:0.0:0.0	.	583;583;583;583;598;598;583;551;583	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	K	551;583;583;583;583;583;598;598;583;542	ENSP00000349213:E551K;ENSP00000378307:E583K;ENSP00000296302:E583K;ENSP00000338302:E583K;ENSP00000386593:E583K;ENSP00000386529:E583K;ENSP00000386643:E598K;ENSP00000386601:E598K;ENSP00000387775:E583K;ENSP00000397662:E542K	ENSP00000296302:E583K	E	-	1	0	PBRM1	52626389	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.999000	0.70665	2.764000	0.94973	0.655000	0.94253	GAA		0.443	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165		25	44	0	0	0	0.004656	0	25	44		
FEZF2	55079	broad.mit.edu	37	3	62355901	62355901	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:62355901C>G	ENST00000283268.3	-	5	1531	c.1237G>C	c.(1237-1239)Gac>Cac	p.D413H	FEZF2_ENST00000475839.1_Missense_Mutation_p.D413H|PTPRG-AS1_ENST00000495542.1_RNA|FEZF2_ENST00000486811.1_Missense_Mutation_p.D413H|PTPRG-AS1_ENST00000490916.1_RNA	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	413					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GGCTTCTTGTCGTTGTGGGTG	0.522																																					NSCLC(170;1772 2053 12525 15604 23984)	uc003dlh.2		NaN																	0				lung(1)	1						c.(1237-1239)GAC>CAC		FEZ family zinc finger 2							270.0	246.0	254.0					3																	62355901		2203	4300	6503	SO:0001583	missense	55079				transcription, DNA-dependent	nucleus	zinc ion binding	g.chr3:62355901C>G	AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.1237G>C	3.37:g.62355901C>G	ENSP00000283268:p.Asp413His					FEZF2_uc003dli.2_Missense_Mutation_p.D413H	p.D413H	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)	4	1444	-		Lung SC(41;0.0262)	413					A8K349|Q9BZ91|Q9NWB9	Missense_Mutation	SNP	ENST00000283268.3	37	c.1237G>C	CCDS2897.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331790	0.81801	.	.	ENSG00000153266	ENST00000486811;ENST00000283268;ENST00000475839	T;T;T	0.15834	2.39;2.39;2.39	5.86	5.86	0.93980	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.35566	0.0936	L	0.37800	1.135	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.02232	-1.1191	10	0.72032	D	0.01	-36.38	20.1772	0.98182	0.0:1.0:0.0:0.0	.	413	Q8TBJ5	FEZF2_HUMAN	H	413	ENSP00000418589:D413H;ENSP00000283268:D413H;ENSP00000418804:D413H	ENSP00000283268:D413H	D	-	1	0	FEZF2	62330941	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.778000	0.95560	0.655000	0.94253	GAC		0.522	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1		NM_018008		36	131	0	0	0	0.006999	0	36	131		
ADAMTS9	56999	broad.mit.edu	37	3	64507920	64507920	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:64507920A>G	ENST00000498707.1	-	39	6077	c.5735T>C	c.(5734-5736)gTa>gCa	p.V1912A	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.V1884A|ADAMTS9_ENST00000467257.1_5'UTR	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1912	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GCATTTCCCTACGACTCGGGT	0.488																																						uc003dmg.2		NaN																	0				ovary(2)|urinary_tract(1)|skin(1)	4						c.(5734-5736)GTA>GCA		ADAM metallopeptidase with thrombospondin type 1							153.0	119.0	130.0					3																	64507920		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64507920A>G	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5735T>C	3.37:g.64507920A>G	ENSP00000418735:p.Val1912Ala					ADAMTS9_uc011bfo.1_Missense_Mutation_p.V1884A|ADAMTS9_uc011bfp.1_Missense_Mutation_p.V823A	p.V1912A	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	39	5767	-		Lung NSC(201;0.00682)	1912			GON.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.5735T>C	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.322|7.322	0.617155|0.617155	0.14129|0.14129	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000295903;ENST00000498707|ENST00000481060	T;T|.	0.17213|.	2.29;2.29|.	5.69|5.69	3.27|3.27	0.37495|0.37495	Peptidase M12B, GON-ADAMTSs (2);|.	0.971662|.	0.08549|.	N|.	0.929379|.	T|.	0.32556|.	0.0833|.	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	0.999994|0.999994	B;B|.	0.12013|.	0.003;0.005|.	B;B|.	0.18263|.	0.014;0.021|.	T|.	0.19418|.	-1.0306|.	10|.	0.22706|.	T|.	0.39|.	.|.	6.0691|6.0691	0.19879|0.19879	0.7282:0.1635:0.1084:0.0|0.7282:0.1635:0.1084:0.0	.|.	1884;1912|.	B7ZVX9;Q9P2N4|.	.;ATS9_HUMAN|.	A|Q	1884;1912|968	ENSP00000295903:V1884A;ENSP00000418735:V1912A|.	ENSP00000295903:V1884A|.	V|X	-|-	2|1	0|0	ADAMTS9|ADAMTS9	64482960|64482960	0.474000|0.474000	0.25886|0.25886	0.082000|0.082000	0.20525|0.20525	0.424000|0.424000	0.31475|0.31475	2.752000|2.752000	0.47516|0.47516	0.954000|0.954000	0.37851|0.37851	0.528000|0.528000	0.53228|0.53228	GTA|TAG		0.488	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1				23	84	0	0	0	0.00632	0	23	84		
RYBP	23429	broad.mit.edu	37	3	72428484	72428484	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:72428484C>G	ENST00000477973.2	-	2	517	c.518G>C	c.(517-519)tGa>tCa	p.*173S		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0	Interaction with E4TF1B.				apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TCCTGCTTTTCAACTTTCTCC	0.418																																						uc003dpe.2		NaN																	0					0						c.(223-225)GAA>CAA		RING1 and YY1 binding protein							188.0	178.0	181.0					3																	72428484		1849	4093	5942	SO:0001578	stop_lost	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72428484C>G	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"""YY1 and E4TF1 associated factor 1"", ""ring1 interactor RYBP"", ""apoptin-associating protein 1"", ""death effector domain-associated factor"""	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.518G>C	3.37:g.72428484C>G	Exception_encountered						p.E75Q	NM_012234	NP_036366	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	2	340	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	85			Lys-rich.		Q9P2W5|Q9UMW4	Missense_Mutation	SNP	ENST00000477973.2	37	c.223G>C		.	.	.	.	.	.	.	.	.	.	C	15.50	2.851883	0.51270	.	.	ENSG00000163602	ENST00000477973	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	L	0.55481	1.735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.657	20.177	0.98182	0.0:1.0:0.0:0.0	.	.	.	.	S	173	.	.	X	-	2	2	RYBP	72511174	0.998000	0.40836	0.962000	0.40283	0.984000	0.73092	3.958000	0.56737	2.854000	0.98071	0.655000	0.94253	TGA		0.418	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3		NM_012234		16	79	0	0	0	0.006122	0	16	79		
CADM2	253559	broad.mit.edu	37	3	86010672	86010672	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:86010672G>A	ENST00000407528.2	+	7	880	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	CADM2_ENST00000383699.3_Missense_Mutation_p.R282Q|CADM2_ENST00000405615.2_Missense_Mutation_p.R275Q	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	273	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GATCCTGACCGAATGGTTGTG	0.413																																						uc003dqj.2		NaN																	0				ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(817-819)CGA>CAA		immunoglobulin superfamily, member 4D							154.0	148.0	150.0					3																	86010672		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:86010672G>A	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.818G>A	3.37:g.86010672G>A	ENSP00000384575:p.Arg273Gln					CADM2_uc003dqk.2_Missense_Mutation_p.R282Q|CADM2_uc003dql.2_Missense_Mutation_p.R275Q	p.R273Q	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	7	1444	+		Lung NSC(201;0.0148)	273			Ig-like C2-type 2.|Extracellular (Potential).		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.818G>A	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	32	5.181643	0.94885	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	D;T;T	0.84800	-1.9;-0.44;-0.44	5.31	5.31	0.75309	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91402	0.7287	M	0.63208	1.945	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.87578	0.899;0.996;0.998	D	0.90320	0.4344	10	0.41790	T	0.15	.	19.3281	0.94270	0.0:0.0:1.0:0.0	.	275;282;273	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	Q	282;273;275	ENSP00000373200:R282Q;ENSP00000384575:R273Q;ENSP00000384193:R275Q	ENSP00000373200:R282Q	R	+	2	0	CADM2	86093362	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.388000	0.97237	2.629000	0.89072	0.650000	0.86243	CGA		0.413	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1		NM_153184		44	149	0	0	0	0.01441	0	44	149		
ST3GAL6	10402	broad.mit.edu	37	3	98489793	98489793	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:98489793C>G	ENST00000483910.1	+	3	449	c.160C>G	c.(160-162)Ctg>Gtg	p.L54V	ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.L54V|ST3GAL6_ENST00000468553.1_Missense_Mutation_p.L54V|ST3GAL6_ENST00000265261.6_5'UTR	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	54					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						TTTTGCCTCTCTGCTGAGGTA	0.353																																						uc003dsz.2		NaN																	0				ovary(1)	1						c.(160-162)CTG>GTG		alpha2,3-sialyltransferase VI							86.0	85.0	85.0					3																	98489793		2203	4300	6503	SO:0001583	missense	10402				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	g.chr3:98489793C>G	AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.160C>G	3.37:g.98489793C>G	ENSP00000417376:p.Leu54Val					ST3GAL6_uc003dsy.2_5'UTR|ST3GAL6_uc003dta.2_5'UTR|ST3GAL6_uc003dtb.2_Intron|ST3GAL6_uc003dtc.2_Missense_Mutation_p.L54V|ST3GAL6_uc010hpd.2_Missense_Mutation_p.L107V	p.L54V	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN			3	396	+			54			Lumenal (Potential).		B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	ENST00000483910.1	37	c.160C>G	CCDS2933.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.176324	0.38413	.	.	ENSG00000064225	ENST00000483910;ENST00000460774;ENST00000497008;ENST00000486334;ENST00000394162;ENST00000468553;ENST00000485391;ENST00000492254;ENST00000477574	T;T;T;T	0.49432	0.82;0.78;0.82;0.85	6.08	4.21	0.49690	.	0.092202	0.46145	D	0.000308	T	0.37433	0.1003	L	0.32530	0.975	0.80722	D	1	D;D	0.53312	0.959;0.959	P;B	0.47744	0.556;0.425	T	0.10177	-1.0641	10	0.19147	T	0.46	-12.085	7.0725	0.25187	0.1702:0.7452:0.0:0.0847	.	77;54	C9J480;Q9Y274	.;SIA10_HUMAN	V	54;54;54;54;54;54;54;77;19	ENSP00000417376:L54V;ENSP00000418896:L54V;ENSP00000377717:L54V;ENSP00000417201:L77V	ENSP00000377717:L54V	L	+	1	2	ST3GAL6	99972483	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	1.270000	0.33086	1.594000	0.50039	-0.218000	0.12543	CTG		0.353	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2		NM_006100		7	41	0	0	0	0.00308	0	7	41		
KPNA1	3836	broad.mit.edu	37	3	122152626	122152626	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:122152626C>T	ENST00000344337.6	-	12	1308	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	RP11-299J3.8_ENST00000608346.1_RNA|KPNA1_ENST00000466923.1_5'UTR|RP11-299J3.8_ENST00000609469.1_RNA	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	378	Binding to RAG1.|NLS binding site (minor). {ECO:0000250}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		ATGTTGGCATCTATCACAGTC	0.323																																					Melanoma(12;340 801 11196 19797)	uc003efd.1		NaN																	0					0						c.(1132-1134)GAT>AAT		karyopherin alpha 1							64.0	65.0	64.0					3																	122152626		2202	4300	6502	SO:0001583	missense	3836				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr3:122152626C>T	S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"""Importins"", ""Armadillo repeat containing"""	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.1132G>A	3.37:g.122152626C>T	ENSP00000343701:p.Asp378Asn					KPNA1_uc003efb.1_Missense_Mutation_p.D177N|KPNA1_uc003efc.1_Missense_Mutation_p.D177N|KPNA1_uc011bjr.1_Missense_Mutation_p.D177N|KPNA1_uc010hrh.2_Missense_Mutation_p.D177N|KPNA1_uc003efe.2_Missense_Mutation_p.D378N	p.D378N	NM_002264	NP_002255	P52294	IMA1_HUMAN		GBM - Glioblastoma multiforme(114;0.0898)	12	1168	-			378			ARM 8.|Binding to RAG1.|NLS binding site (minor) (By similarity).		D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	ENST00000344337.6	37	c.1132G>A	CCDS3013.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738394	0.69304	.	.	ENSG00000114030	ENST00000344337	T	0.70869	-0.52	5.24	5.24	0.73138	Armadillo-like helical (1);Armadillo-type fold (1);	0.047237	0.85682	D	0.000000	T	0.65048	0.2654	L	0.43598	1.365	0.80722	D	1	B	0.06786	0.001	B	0.17722	0.019	T	0.58451	-0.7634	10	0.25751	T	0.34	-19.0125	17.9888	0.89162	0.0:1.0:0.0:0.0	.	378	P52294	IMA1_HUMAN	N	378	ENSP00000343701:D378N	ENSP00000343701:D378N	D	-	1	0	KPNA1	123635316	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.651000	0.83577	2.724000	0.93272	0.563000	0.77884	GAT		0.323	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355740.1		NM_002264		5	31	0	0	0	0.001168	0	5	31		
KALRN	8997	broad.mit.edu	37	3	124356151	124356151	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:124356151G>A	ENST00000291478.5	+	4	733		c.e4+1		KALRN_ENST00000360013.3_Splice_Site|KALRN_ENST00000393496.1_Intron|KALRN_ENST00000428018.2_Intron|KALRN_ENST00000459915.1_Splice_Site	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AAACAAGCTGGTAAGTGGGGG	0.522																																						uc003ehg.2		NaN																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.e37+1		kalirin, RhoGEF kinase isoform 1							107.0	111.0	110.0					3																	124356151		2203	4300	6503	SO:0001630	splice_region_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124356151G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.570+1G>A	3.37:g.124356151G>A						KALRN_uc003ehi.2_Intron|KALRN_uc003ehk.2_Splice_Site_p.L190_splice|KALRN_uc011bjz.1_Splice_Site|KALRN_uc003ehj.2_Intron	p.L1887_splice	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			37	5788	+								A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Splice_Site	SNP	ENST00000291478.5	37	c.5661_splice	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.136140	0.77662	.	.	ENSG00000160145	ENST00000360013;ENST00000354186;ENST00000291478	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3816	0.90453	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KALRN	125838841	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.208000	0.95075	2.653000	0.90120	0.655000	0.94253	.		0.522	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5		NM_003947	Intron	8	66	0	0	0	0.008291	0	8	66		
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682																																						uc003ejg.2		NaN																	4	Substitution - coding silent(4)		lung(2)|kidney(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(37-39)GGT>GGG		plexin A1							26.0	27.0	27.0					3																	126707544		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126707544T>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.108T>G	3.37:g.126707544T>G							p.G13G	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	43	+			36			Sema.|Extracellular (Potential).			Silent	SNP	ENST00000393409.2	37	c.39T>G	CCDS33847.2																																																																																				0.682	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1		NM_032242		5	28	0	0	0	0.001855	0	5	28		
BFSP2	8419	broad.mit.edu	37	3	133166243	133166243	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:133166243G>A	ENST00000302334.2	+	2	661	c.572G>A	c.(571-573)aGa>aAa	p.R191K	BFSP2-AS1_ENST00000515542.1_RNA	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	191	Rod.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						TTTAAAGAGAGGTAATGTCTT	0.522																																						uc003epn.1		NaN																	0					0						c.(571-573)AGA>AAA		phakinin							107.0	92.0	97.0					3																	133166243		2203	4300	6503	SO:0001630	splice_region_variant	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133166243G>A	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.572+1G>A	3.37:g.133166243G>A						uc003epo.2_Intron	p.R191K	NM_003571	NP_003562	Q13515	BFSP2_HUMAN			2	710	+			191			Rod.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.572G>A	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386576	0.25031	.	.	ENSG00000170819	ENST00000302334	D	0.86694	-2.16	5.31	4.43	0.53597	Filament (1);	0.183293	0.38272	N	0.001757	T	0.72700	0.3493	N	0.04203	-0.255	0.58432	D	0.999999	B	0.30889	0.299	B	0.35770	0.21	T	0.69811	-0.5044	10	0.02654	T	1	-5.5452	15.2679	0.73678	0.0:0.0:0.8585:0.1415	.	191	Q13515	BFSP2_HUMAN	K	191	ENSP00000304987:R191K	ENSP00000304987:R191K	R	+	2	0	BFSP2	134648933	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.605000	0.67634	1.209000	0.43321	0.555000	0.69702	AGA		0.522	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			Missense_Mutation	13	22	0	0	0	0.003163	0	13	22		
TOPBP1	11073	broad.mit.edu	37	3	133374177	133374177	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:133374177C>T	ENST00000260810.5	-	6	830	c.699G>A	c.(697-699)ttG>ttA	p.L233L	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	233	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CATTCATTTTCAATTGTCCCA	0.363								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	uc003eps.2		NaN																	0				ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						c.(697-699)TTG>TTA	Other_conserved_DNA_damage_response_genes	topoisomerase (DNA) II binding protein 1							156.0	144.0	148.0					3																	133374177		1880	4117	5997	SO:0001819	synonymous_variant	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133374177C>T	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.699G>A	3.37:g.133374177C>T							p.L233L	NM_007027	NP_008958	Q92547	TOPB1_HUMAN			6	831	-			233			BRCT 2.		B7Z7W8|Q7LGC1|Q9UEB9	Silent	SNP	ENST00000260810.5	37	c.699G>A	CCDS46919.1																																																																																				0.363	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1		NM_007027		34	77	0	0	0	0.006999	0	34	77		
NME9	347736	broad.mit.edu	37	3	138024920	138024920	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:138024920C>G	ENST00000333911.3	-	8	589	c.562G>C	c.(562-564)Gaa>Caa	p.E188Q	NME9_ENST00000484930.1_Missense_Mutation_p.E125Q|NME9_ENST00000383180.2_Missense_Mutation_p.E127Q|NME9_ENST00000536478.1_Missense_Mutation_p.E127Q|NME9_ENST00000341790.5_Missense_Mutation_p.E125Q|NME9_ENST00000317876.4_Missense_Mutation_p.E127Q			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	188	NDK.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GTTAGAATTTCAAACCCAGCT	0.353																																						uc003esg.2		NaN																	0				breast(3)|ovary(1)|pancreas(1)	5						c.(562-564)GAA>CAA		thioredoxin domain containing 6							111.0	109.0	110.0					3																	138024920		2203	4300	6503	SO:0001583	missense	347736				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr3:138024920C>G	AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"""thioredoxin domain containing 6"", ""NME gene family member 9"", ""NME family member 9"""	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.562G>C	3.37:g.138024920C>G	ENSP00000335444:p.Glu188Gln					TXNDC6_uc003esd.1_RNA|TXNDC6_uc010huf.1_Missense_Mutation_p.E103Q|TXNDC6_uc003ese.1_Missense_Mutation_p.E127Q	p.E188Q	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN			8	590	-			188			NDK.		Q7Z4A8|Q8N1V7	Missense_Mutation	SNP	ENST00000333911.3	37	c.562G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.03|14.03	2.412825|2.412825	0.42817|0.42817	.|.	.|.	ENSG00000181322|ENSG00000181322	ENST00000383180;ENST00000317876;ENST00000484930;ENST00000341790;ENST00000536478;ENST00000333911;ENST00000475751|ENST00000474690	T;T;T;T;T;T;T|.	0.54866|.	0.55;0.55;0.55;0.55;0.55;0.55;0.55|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.408644|.	0.28414|.	N|.	0.015432|.	T|.	0.35393|.	0.0930|.	N|N	0.17248|0.17248	0.465|0.465	0.27789|0.27789	N|N	0.942879|0.942879	B;P;B|.	0.40302|.	0.343;0.712;0.364|.	B;B;B|.	0.42798|.	0.133;0.398;0.135|.	T|.	0.23226|.	-1.0194|.	10|.	0.39692|.	T|.	0.17|.	-24.9551|-24.9551	16.5065|16.5065	0.84273|0.84273	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	125;188;127|.	Q86XW9-3;Q86XW9;Q86XW9-2|.	.;TXND6_HUMAN;.|.	Q|S	127;127;125;125;127;188;188|118	ENSP00000372667:E127Q;ENSP00000321929:E127Q;ENSP00000419882:E125Q;ENSP00000341084:E125Q;ENSP00000440143:E127Q;ENSP00000335444:E188Q;ENSP00000419147:E188Q|.	ENSP00000321929:E127Q|.	E|X	-|-	1|2	0|2	TXNDC6|TXNDC6	139507610|139507610	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.968000|0.968000	0.65278|0.65278	2.205000|2.205000	0.42770|0.42770	2.532000|2.532000	0.85374|0.85374	0.591000|0.591000	0.81541|0.81541	GAA|TGA		0.353	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1		NM_178130		11	66	0	0	0	0.013537	0	11	66		
MRPS22	56945	broad.mit.edu	37	3	139062950	139062950	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:139062950C>G	ENST00000495075.1	+	3	514	c.82C>G	c.(82-84)Cga>Gga	p.R28G	MRPS22_ENST00000478464.1_5'Flank|MRPS22_ENST00000310776.4_Missense_Mutation_p.R28G|MRPS22_ENST00000465056.1_Missense_Mutation_p.R28G			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	28						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						TTTCCGGGCTCGAATCCAGCC	0.617																																						uc003etb.2		NaN																	0				ovary(2)|skin(1)	3						c.(82-84)CGA>GGA		mitochondrial ribosomal protein S22							40.0	41.0	41.0					3																	139062950		2203	4300	6503	SO:0001583	missense	56945					mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:139062950C>G	AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"""Mitochondrial ribosomal proteins / small subunits"""	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.82C>G	3.37:g.139062950C>G	ENSP00000418008:p.Arg28Gly					MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.R28G|MRPS22_uc003ete.2_5'Flank	p.R28G	NM_020191	NP_064576	P82650	RT22_HUMAN			1	90	+			28					Q9H3I1	Missense_Mutation	SNP	ENST00000495075.1	37	c.82C>G	CCDS3107.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.549690	0.27652	.	.	ENSG00000175110	ENST00000495075;ENST00000310776;ENST00000465056;ENST00000465373	D;D;D;T	0.83673	-1.74;-1.74;-1.75;-1.19	4.01	0.794	0.18638	.	0.526148	0.14988	N	0.286841	T	0.68696	0.3029	N	0.24115	0.695	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.002	T	0.59059	-0.7525	10	0.54805	T	0.06	-0.3187	6.7458	0.23460	0.1935:0.4294:0.3771:0.0	.	28;28	G5E9V5;P82650	.;RT22_HUMAN	G	28;28;28;24	ENSP00000418008:R28G;ENSP00000310785:R28G;ENSP00000418233:R28G;ENSP00000419920:R24G	ENSP00000310785:R28G	R	+	1	2	MRPS22	140545640	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.311000	0.08124	0.426000	0.26116	-0.189000	0.12847	CGA		0.617	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358120.1		NM_020191		4	22	0	0	0	0.009096	0	4	22		
COPB2	9276	broad.mit.edu	37	3	139087069	139087069	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:139087069A>G	ENST00000333188.5	-	13	1644	c.1463T>C	c.(1462-1464)cTt>cCt	p.L488P	COPB2_ENST00000507777.1_Missense_Mutation_p.L459P	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	488					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CAGATACTTAAGGATAAAAAA	0.393																																						uc003etf.3		NaN																	0				ovary(2)	2						c.(1462-1464)CTT>CCT		coatomer protein complex, subunit beta 2 (beta							101.0	98.0	99.0					3																	139087069		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139087069A>G	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1463T>C	3.37:g.139087069A>G	ENSP00000329419:p.Leu488Pro					COPB2_uc011bmv.1_Missense_Mutation_p.L459P|COPB2_uc010hui.2_Missense_Mutation_p.L459P	p.L488P	NM_004766	NP_004757	P35606	COPB2_HUMAN			13	1593	-			488					B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.1463T>C	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.634037	0.87660	.	.	ENSG00000184432	ENST00000333188;ENST00000507777;ENST00000512309	T;D	0.90955	2.2;-2.76	5.86	5.86	0.93980	WD40 repeat-like-containing domain (1);Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	D	0.96969	0.9010	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98185	1.0459	10	0.87932	D	0	-18.3521	16.2366	0.82380	1.0:0.0:0.0:0.0	.	488	P35606	COPB2_HUMAN	P	488;459;111	ENSP00000329419:L488P;ENSP00000422295:L459P	ENSP00000329419:L488P	L	-	2	0	COPB2	140569759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.173000	0.94815	2.237000	0.73441	0.533000	0.62120	CTT		0.393	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2		NM_004766		9	52	0	0	0	0.006214	0	9	52		
MME	4311	broad.mit.edu	37	3	154855989	154855989	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:154855989G>C	ENST00000460393.1	+	9	939	c.819G>C	c.(817-819)atG>atC	p.M273I	MME_ENST00000492661.1_Missense_Mutation_p.M273I|MME_ENST00000360490.2_Missense_Mutation_p.M273I|MME_ENST00000493237.1_Missense_Mutation_p.M273I|MME_ENST00000462745.1_Missense_Mutation_p.M273I	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	273					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CTTTGGAAATGAATAAAGTTA	0.358																																						uc010hvr.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(817-819)ATG>ATC		membrane metallo-endopeptidase	Candoxatril(DB00616)						110.0	113.0	112.0					3																	154855989		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154855989G>C		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.819G>C	3.37:g.154855989G>C	ENSP00000418525:p.Met273Ile					MME_uc003fab.1_Missense_Mutation_p.M273I|MME_uc003fac.1_Missense_Mutation_p.M273I|MME_uc003fad.1_Missense_Mutation_p.M273I|MME_uc003fae.1_Missense_Mutation_p.M273I	p.M273I	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		9	1030	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	273			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.819G>C	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783590	0.90282	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77	5.58	5.58	0.84498	Peptidase M13 (1);	0.042993	0.85682	D	0.000000	T	0.80465	0.4628	M	0.66439	2.03	0.58432	D	0.999999	D	0.54397	0.966	P	0.49387	0.609	T	0.82442	-0.0455	10	0.72032	D	0.01	-31.9659	19.922	0.97089	0.0:0.0:1.0:0.0	.	273	P08473	NEP_HUMAN	I	273	ENSP00000420389:M273I;ENSP00000418525:M273I;ENSP00000419653:M273I;ENSP00000417079:M273I;ENSP00000353679:M273I	ENSP00000353679:M273I	M	+	3	0	MME	156338683	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	6.484000	0.73621	2.780000	0.95670	0.655000	0.94253	ATG		0.358	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1		NM_000902		14	73	0	0	0	0.001855	0	14	73		
ZBBX	79740	broad.mit.edu	37	3	167016138	167016138	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:167016138G>T	ENST00000392766.2	-	18	2174	c.1834C>A	c.(1834-1836)Cat>Aat	p.H612N	ZBBX_ENST00000392764.1_Missense_Mutation_p.H583N|ZBBX_ENST00000307529.5_Missense_Mutation_p.H612N|ZBBX_ENST00000455345.2_Missense_Mutation_p.H612N|ZBBX_ENST00000392767.2_Missense_Mutation_p.H612N	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	612						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCTAAACGATGAGAAGGAAGT	0.333																																						uc003fep.2		NaN																	0				ovary(2)	2						c.(1834-1836)CAT>AAT		zinc finger, B-box domain containing							131.0	129.0	129.0					3																	167016138		1829	4084	5913	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167016138G>T	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1834C>A	3.37:g.167016138G>T	ENSP00000376519:p.His612Asn					ZBBX_uc011bpc.1_Missense_Mutation_p.H612N|ZBBX_uc003feq.2_Missense_Mutation_p.H583N	p.H612N	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			18	2157	-			612					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.1834C>A	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	7.509	0.654219	0.14580	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.09538	3.14;3.14;3.14;3.14;2.97	4.89	0.0691	0.14372	.	1.305820	0.05079	N	0.483117	T	0.07413	0.0187	L	0.38175	1.15	0.09310	N	1	B;B	0.26195	0.144;0.089	B;B	0.19391	0.025;0.007	T	0.39522	-0.9610	10	0.23302	T	0.38	0.4688	0.5599	0.00677	0.2833:0.1789:0.3551:0.1826	.	612;612	A8MT70-2;A8MT70	.;ZBBX_HUMAN	N	612;612;612;612;583	ENSP00000376519:H612N;ENSP00000376520:H612N;ENSP00000390232:H612N;ENSP00000305065:H612N;ENSP00000376517:H583N	ENSP00000305065:H612N	H	-	1	0	ZBBX	168498832	0.036000	0.19791	0.399000	0.26333	0.030000	0.12068	0.109000	0.15417	0.373000	0.24621	-0.237000	0.12165	CAT		0.333	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3		NM_024687		14	66	1	0	1.52009e-12	0.003163	1.61566e-12	14	66		
LRRC31	79782	broad.mit.edu	37	3	169557820	169557820	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:169557820C>G	ENST00000316428.5	-	9	1666	c.1609G>C	c.(1609-1611)Gac>Cac	p.D537H	LRRC31_ENST00000264676.5_Missense_Mutation_p.D481H|LRRC31_ENST00000523069.1_3'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	537										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TTATCTTGGTCAAAGCATTCT	0.403																																						uc003fgc.1		NaN																	0				ovary(2)|skin(1)	3						c.(1609-1611)GAC>CAC		leucine rich repeat containing 31							126.0	111.0	115.0					3																	169557820		1869	4100	5969	SO:0001583	missense	79782							g.chr3:169557820C>G	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.1609G>C	3.37:g.169557820C>G	ENSP00000325978:p.Asp537His					LRRC31_uc010hwp.1_Missense_Mutation_p.D481H	p.D537H	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		9	1686	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		537					B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	c.1609G>C	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601546	0.28534	.	.	ENSG00000114248	ENST00000316428;ENST00000264676	T;T	0.07114	3.22;3.24	4.87	-1.84	0.07809	.	1.439480	0.03870	N	0.275433	T	0.05273	0.0140	N	0.19112	0.55	0.09310	N	1	P;B	0.36315	0.547;0.138	B;B	0.31101	0.124;0.04	T	0.36648	-0.9739	10	0.40728	T	0.16	-2.3164	6.2515	0.20848	0.0:0.1309:0.4244:0.4447	.	481;537	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	H	537;481	ENSP00000325978:D537H;ENSP00000264676:D481H	ENSP00000264676:D481H	D	-	1	0	LRRC31	171040514	0.242000	0.23868	0.000000	0.03702	0.002000	0.02628	0.406000	0.21032	-0.214000	0.10078	0.650000	0.86243	GAC		0.403	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1		NM_024727		20	51	0	0	0	0.012319	0	20	51		
ATP11B	23200	broad.mit.edu	37	3	182566341	182566341	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:182566341G>C	ENST00000323116.5	+	10	1107	c.847G>C	c.(847-849)Gaa>Caa	p.E283Q	ATP11B_ENST00000482794.1_3'UTR	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	283					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATCTGCAGTAGAAAAGTAAGA	0.249																																						uc003flb.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(847-849)GAA>CAA		ATPase, class VI, type 11B							57.0	58.0	58.0					3																	182566341		2203	4297	6500	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182566341G>C	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.847G>C	3.37:g.182566341G>C	ENSP00000321195:p.Glu283Gln						p.E283Q	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		10	1104	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		283			Cytoplasmic (Potential).		Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.847G>C	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.168715|5.168715	0.94768|0.94768	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000323116|ENST00000498086	D|.	0.86562|.	-2.14|.	5.4|5.4	5.4|5.4	0.78164|0.78164	ATPase, P-type, ATPase-associated domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.79052|.	0.4381|.	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|.	0.79524|.	-0.1768|.	10|.	0.87932|.	D|.	0|.	.|.	19.2267|19.2267	0.93820|0.93820	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	283|.	Q9Y2G3|.	AT11B_HUMAN|.	Q|Y	283|83	ENSP00000321195:E283Q|.	ENSP00000321195:E283Q|.	E|X	+|+	1|3	0|2	ATP11B|ATP11B	184049035|184049035	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.309000|9.309000	0.96252|0.96252	2.563000|2.563000	0.86464|0.86464	0.551000|0.551000	0.68910|0.68910	GAA|TAG		0.249	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1		NM_014616		13	35	0	0	0	0.001855	0	13	35		
PSMD2	5708	broad.mit.edu	37	3	184026528	184026528	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:184026528G>A	ENST00000310118.4	+	21	3135	c.2577G>A	c.(2575-2577)ccG>ccA	p.P859P	PSMD2_ENST00000439383.1_Silent_p.P729P|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Silent_p.P700P	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	859					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CTGGCAAGCCGAAGACTATCA	0.547											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(24;313 636 6917 9932 15554)	uc003fnn.1		NaN																	0					0						c.(2575-2577)CCG>CCA		proteasome 26S non-ATPase subunit 2	Bortezomib(DB00188)						80.0	85.0	83.0					3																	184026528		2203	4300	6503	SO:0001819	synonymous_variant	5708				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184026528G>A	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.2577G>A	3.37:g.184026528G>A			OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1989	PSMD2_uc011brj.1_Silent_p.P700P|PSMD2_uc011brk.1_Silent_p.P729P	p.P859P	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		21	2610	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		859					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Silent	SNP	ENST00000310118.4	37	c.2577G>A	CCDS3258.1																																																																																				0.547	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1		NM_002808		35	53	0	0	0	0.006999	0	35	53		
TCTEX1D2	255758	broad.mit.edu	37	3	196044975	196044975	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:196044975C>T	ENST00000325318.5	-	1	184	c.49G>A	c.(49-51)Gag>Aag	p.E17K	TM4SF19_ENST00000442633.1_Intron|RP11-447L10.1_ENST00000431391.1_Missense_Mutation_p.E17K|TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19-AS1_ENST00000452051.1_RNA	NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	17										breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TTCTCAGCCTCAGGCACCCCG	0.662																																						uc003fwi.2		NaN																	0				ovary(1)|breast(1)	2						c.(49-51)GAG>AAG		Tctex1 domain containing 2							42.0	40.0	40.0					3																	196044975		2203	4300	6503	SO:0001583	missense	255758						protein binding	g.chr3:196044975C>T	BC021177	CCDS33929.1	3q29	2010-07-19			ENSG00000213123	ENSG00000213123			28482	protein-coding gene	gene with protein product						12477932	Standard	NM_152773		Approved	MGC33212	uc003fwi.3	Q8WW35	OTTHUMG00000155672	ENST00000325318.5:c.49G>A	3.37:g.196044975C>T	ENSP00000324323:p.Glu17Lys					TM4SF19_uc003fwj.2_Intron|uc003fwk.1_5'Flank	p.E17K	NM_152773	NP_689986	Q8WW35	TC1D2_HUMAN	Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)	1	185	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		17					A6NCN5	Missense_Mutation	SNP	ENST00000325318.5	37	c.49G>A	CCDS33929.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858032	0.71834	.	.	ENSG00000213123	ENST00000325318;ENST00000545438	T	0.24538	1.85	4.84	4.84	0.62591	.	1.253610	0.06809	U	0.789988	T	0.21267	0.0512	L	0.29908	0.895	0.80722	D	1	B	0.30482	0.281	B	0.27608	0.081	T	0.03148	-1.1067	10	0.16420	T	0.52	-10.8398	13.2904	0.60269	0.0:1.0:0.0:0.0	.	17	Q8WW35	TC1D2_HUMAN	K	17	ENSP00000324323:E17K	ENSP00000324323:E17K	E	-	1	0	TCTEX1D2	197529372	0.189000	0.23263	0.019000	0.16419	0.008000	0.06430	3.497000	0.53295	2.495000	0.84180	0.561000	0.74099	GAG		0.662	TCTEX1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341166.1		NM_152773		3	10	0	0	0	0.009096	0	3	10		
PIGG	54872	broad.mit.edu	37	4	499705	499705	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:499705G>C	ENST00000453061.2	+	3	665	c.559G>C	c.(559-561)Gat>Cat	p.D187H	PIGG_ENST00000504346.1_Missense_Mutation_p.D98H|PIGG_ENST00000509768.1_Missense_Mutation_p.D98H|PIGG_ENST00000296306.7_Missense_Mutation_p.D98H|PIGG_ENST00000310340.5_Missense_Mutation_p.D187H|PIGG_ENST00000503111.1_Missense_Mutation_p.D98H|PIGG_ENST00000536264.1_Missense_Mutation_p.D65H|PIGG_ENST00000383028.4_Intron	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	187					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TTTCGTGTCAGATTACACAGA	0.338																																						uc003gak.3		NaN																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(559-561)GAT>CAT		phosphatidylinositol glycan anchor biosynthesis,							60.0	61.0	61.0					4																	499705		2202	4300	6502	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:499705G>C		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.559G>C	4.37:g.499705G>C	ENSP00000415203:p.Asp187His					PIGG_uc003gaj.3_Missense_Mutation_p.D187H|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Intron|PIGG_uc003gal.3_Missense_Mutation_p.D98H|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Missense_Mutation_p.D65H|PIGG_uc003gam.2_Missense_Mutation_p.D98H|PIGG_uc003gan.2_Missense_Mutation_p.D98H	p.D187H	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN			3	695	+			187			Lumenal (Potential).		B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.559G>C	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410178	0.83340	.	.	ENSG00000174227	ENST00000296306;ENST00000536264;ENST00000310340;ENST00000453061;ENST00000504346;ENST00000503111;ENST00000509768	T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.52	5.52	0.82312	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.73613	0.3609	H	0.96576	3.845	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	T	0.83078	-0.0139	10	0.87932	D	0	-22.0603	16.9248	0.86173	0.0:0.0:1.0:0.0	.	65;98;98;187;187	B4DKC7;D6RFE8;Q5H8A4-5;Q5H8A4;Q5H8A4-2	.;.;.;PIGG_HUMAN;.	H	98;65;187;187;98;98;98	ENSP00000296306:D98H;ENSP00000439240:D65H;ENSP00000311750:D187H;ENSP00000415203:D187H;ENSP00000424800:D98H;ENSP00000426002:D98H;ENSP00000421550:D98H	ENSP00000296306:D98H	D	+	1	0	PIGG	489705	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.929000	0.92859	2.593000	0.87608	0.655000	0.94253	GAT		0.338	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1		NM_017733		5	29	0	0	0	0.014758	0	5	29		
CC2D2A	57545	broad.mit.edu	37	4	15601285	15601285	+	Missense_Mutation	SNP	G	G	C	rs376667009		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:15601285G>C	ENST00000503292.1	+	37	4810	c.4630G>C	c.(4630-4632)Gat>Cat	p.D1544H	CC2D2A_ENST00000389652.5_Missense_Mutation_p.D1436H|CC2D2A_ENST00000413206.1_Missense_Mutation_p.D1544H|CC2D2A_ENST00000424120.1_Missense_Mutation_p.D1544H	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1544					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						AGATGTAGAAGATGACCACAG	0.443																																						uc010idv.2		NaN																	0				pancreas(2)|ovary(1)	3						c.(4630-4632)GAT>CAT		coiled-coil and C2 domain containing 2A isoform							77.0	71.0	73.0					4																	15601285		1914	4141	6055	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15601285G>C	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.4630G>C	4.37:g.15601285G>C	ENSP00000421809:p.Asp1544His					CC2D2A_uc003gnx.2_Missense_Mutation_p.D1436H|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	p.D1544H	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN			37	4875	+			1544					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.4630G>C	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176529	0.78564	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.75	5.75	0.90469	.	0.105765	0.64402	D	0.000005	D	0.83931	0.5361	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.68943	0.961;0.936	D	0.84625	0.0686	10	0.72032	D	0.01	.	19.9375	0.97146	0.0:0.0:1.0:0.0	.	1544;1436	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	H	1544;1544;1436;1436;1544;1436	ENSP00000403465:D1544H;ENSP00000398391:D1544H;ENSP00000421809:D1544H;ENSP00000374303:D1436H	ENSP00000374303:D1436H	D	+	1	0	CC2D2A	15210383	1.000000	0.71417	0.860000	0.33809	0.527000	0.34593	9.476000	0.97823	2.717000	0.92951	0.650000	0.86243	GAT		0.443	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2		NM_001080522		16	22	0	0	0	0.00499	0	16	22		
LDB2	9079	broad.mit.edu	37	4	16597454	16597454	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:16597454C>G	ENST00000304523.5	-	3	603	c.280G>C	c.(280-282)Gaa>Caa	p.E94Q	LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000503178.2_5'UTR|LDB2_ENST00000441778.2_Missense_Mutation_p.E94Q|LDB2_ENST00000502640.1_Missense_Mutation_p.E94Q|LDB2_ENST00000515064.1_Missense_Mutation_p.E94Q	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	94					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						ACCCCTCCTTCAAACACAGTG	0.493																																						uc003goz.2		NaN																	0					0						c.(280-282)GAA>CAA		LIM domain binding 2 isoform a							109.0	90.0	97.0					4																	16597454		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16597454C>G	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.280G>C	4.37:g.16597454C>G	ENSP00000306772:p.Glu94Gln					LDB2_uc003gpa.2_Missense_Mutation_p.E94Q|LDB2_uc003gpb.2_Missense_Mutation_p.E94Q|LDB2_uc011bxh.1_Missense_Mutation_p.E94Q|LDB2_uc010iee.2_Missense_Mutation_p.E94Q|LDB2_uc003goy.2_5'UTR|LDB2_uc011bxi.1_5'UTR	p.E94Q	NM_001290	NP_001281	O43679	LDB2_HUMAN			3	596	-			94					O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.280G>C	CCDS3420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.978697|4.978697	0.92982|0.92982	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000506732|ENST00000507464	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82944|0.82944	0.5147|0.5147	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.991;1.0;1.0;1.0;0.999|.	D;D;D;D;D|.	0.91635|.	0.982;0.995;0.994;0.991;0.999|.	D|D	0.83803|0.83803	0.0237|0.0237	9|5	0.51188|.	T|.	0.08|.	-19.1587|-19.1587	18.9634|18.9634	0.92685|0.92685	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	60;94;94;94;94|.	B7Z6D0;E9PFI4;G5E9Y7;O43679-2;O43679|.	.;.;.;.;LDB2_HUMAN|.	Q|F	94;94;94;94;70|15	.|.	ENSP00000306772:E94Q|.	E|L	-|-	1|3	0|2	LDB2|LDB2	16206552|16206552	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.445000|7.445000	0.80570|0.80570	2.793000|2.793000	0.96121|0.96121	0.563000|0.563000	0.77884|0.77884	GAA|TTG		0.493	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2				53	40	0	0	0	0.01441	0	53	40		
ARAP2	116984	broad.mit.edu	37	4	36152544	36152544	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:36152544C>G	ENST00000303965.4	-	16	3364	c.2875G>C	c.(2875-2877)Gag>Cag	p.E959Q		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	959	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAGAAGTCCTCTTTGTGTATA	0.343																																						uc003gsq.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2875-2877)GAG>CAG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							176.0	186.0	182.0					4																	36152544		2203	4298	6501	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36152544C>G	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.2875G>C	4.37:g.36152544C>G	ENSP00000302895:p.Glu959Gln						p.E959Q	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			16	3213	-			959			PH 3.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.2875G>C	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908779	0.52439	.	.	ENSG00000047365	ENST00000303965	D	0.94184	-3.37	5.03	5.03	0.67393	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.304848	0.31495	N	0.007554	D	0.91620	0.7352	L	0.47716	1.5	0.25812	N	0.984385	D	0.53312	0.959	P	0.52598	0.703	D	0.84544	0.0640	10	0.27785	T	0.31	.	6.9921	0.24761	0.2901:0.6257:0.0:0.0841	.	959	Q8WZ64	ARAP2_HUMAN	Q	959	ENSP00000302895:E959Q	ENSP00000302895:E959Q	E	-	1	0	ARAP2	35828939	0.968000	0.33430	0.989000	0.46669	0.932000	0.56968	1.274000	0.33132	2.504000	0.84457	0.650000	0.86243	GAG		0.343	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2		NM_015230		58	117	0	0	0	0.01441	0	58	117		
GABRG1	2565	broad.mit.edu	37	4	46060594	46060594	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:46060594G>A	ENST00000295452.4	-	6	838	c.671C>T	c.(670-672)tCc>tTc	p.S224F		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	224					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CACTTCTACGGAGGGCTTTTT	0.358																																						uc003gxb.2		NaN																	0				ovary(2)	2						c.(670-672)TCC>TTC		gamma-aminobutyric acid A receptor, gamma 1							73.0	71.0	71.0					4																	46060594		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060594G>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.671C>T	4.37:g.46060594G>A	ENSP00000295452:p.Ser224Phe						p.S224F	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	6	823	-			224			Extracellular (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.671C>T	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669047	0.88348	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.78924	-1.22	5.83	5.83	0.93111	Neurotransmitter-gated ion-channel ligand-binding (3);	0.114278	0.64402	D	0.000010	D	0.89385	0.6700	M	0.89534	3.04	0.58432	D	0.999993	D	0.53885	0.963	P	0.58266	0.836	D	0.90862	0.4739	10	0.87932	D	0	.	19.1642	0.93548	0.0:0.0:1.0:0.0	.	224	Q8N1C3	GBRG1_HUMAN	F	224	ENSP00000295452:S224F	ENSP00000295452:S224F	S	-	2	0	GABRG1	45755351	1.000000	0.71417	0.991000	0.47740	0.919000	0.55068	9.776000	0.99001	2.775000	0.95449	0.650000	0.86243	TCC		0.358	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1		NM_173536		5	27	0	0	0	0.001168	0	5	27		
KIAA1211	57482	broad.mit.edu	37	4	57181751	57181751	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:57181751G>A	ENST00000504228.1	+	6	2188	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	KIAA1211_ENST00000264229.6_Missense_Mutation_p.D695N|KIAA1211_ENST00000541073.1_Missense_Mutation_p.D688N			Q6ZU35	K1211_HUMAN	KIAA1211	695										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAGGCCCGGTGATGAGTCCAC	0.592																																						uc003hbk.2		NaN																	0				ovary(1)|skin(1)	2						c.(2083-2085)GAT>AAT		hypothetical protein LOC57482							61.0	70.0	67.0					4																	57181751		1990	4162	6152	SO:0001583	missense	57482							g.chr4:57181751G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2083G>A	4.37:g.57181751G>A	ENSP00000423366:p.Asp695Asn					KIAA1211_uc010iha.2_Missense_Mutation_p.D688N|KIAA1211_uc011bzz.1_Missense_Mutation_p.D605N|KIAA1211_uc003hbm.1_Missense_Mutation_p.D581N	p.D695N	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	2474	+	Glioma(25;0.08)|all_neural(26;0.101)		695					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2083G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.812310	0.50527	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02197	4.4;4.4;4.4	4.47	3.61	0.41365	.	.	.	.	.	T	0.05044	0.0135	L	0.56769	1.78	0.09310	N	1	P;P;P	0.51933	0.949;0.949;0.949	P;P;B	0.46543	0.52;0.52;0.415	T	0.29212	-1.0019	9	0.59425	D	0.04	-4.2921	12.9475	0.58382	0.0808:0.0:0.9192:0.0	.	688;688;695	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	N	695;695;688;605	ENSP00000264229:D695N;ENSP00000423366:D695N;ENSP00000444006:D688N	ENSP00000264229:D695N	D	+	1	0	KIAA1211	56876508	0.996000	0.38824	0.058000	0.19502	0.004000	0.04260	3.204000	0.51082	2.306000	0.77630	0.555000	0.69702	GAT		0.592	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2		NM_020722		22	97	0	0	0	0.00632	0	22	97		
SRP72	6731	broad.mit.edu	37	4	57367868	57367868	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:57367868G>C	ENST00000342756.5	+	19	2578	c.1857G>C	c.(1855-1857)gtG>gtC	p.V619V	SRP72_ENST00000510663.1_Silent_p.V558V	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	619					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					GTAAAACTGTGAGCAGCCCAC	0.453																																						uc003hbv.2		NaN																	0				ovary(1)	1						c.(1855-1857)GTG>GTC		signal recognition particle 72kDa							55.0	52.0	53.0					4																	57367868		2203	4300	6503	SO:0001819	synonymous_variant	6731				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57367868G>C	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1857G>C	4.37:g.57367868G>C						SRP72_uc010ihe.2_Silent_p.V558V|SRP72_uc003hbx.2_RNA	p.V619V	NM_006947	NP_008878	O76094	SRP72_HUMAN			19	1897	+	Glioma(25;0.08)|all_neural(26;0.101)		619					G5E9Z8|Q7Z3C0	Silent	SNP	ENST00000342756.5	37	c.1857G>C	CCDS3506.1																																																																																				0.453	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7				5	36	0	0	0	0.014758	0	5	36		
PTPN13	5783	broad.mit.edu	37	4	87694009	87694009	+	Silent	SNP	G	G	A	rs370996838		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:87694009G>A	ENST00000411767.2	+	32	5310	c.5247G>A	c.(5245-5247)tcG>tcA	p.S1749S	PTPN13_ENST00000427191.2_Silent_p.S1730S|PTPN13_ENST00000436978.1_Silent_p.S1754S|PTPN13_ENST00000511467.1_Silent_p.S1754S|PTPN13_ENST00000316707.6_Silent_p.S1558S			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1749	Poly-Ser.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CCTCTAGTTCGATGGATAAGT	0.408																																						uc003hpz.2		NaN																	0				ovary(4)|breast(1)|kidney(1)	6						c.(5245-5247)TCG>TCA		protein tyrosine phosphatase, non-receptor type		G	,,,	0,3668		0,0,1834	129.0	122.0	124.0		5190,5247,4674,5262	-1.6	0.0	4		124	3,8175		0,3,4086	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPN13	NM_006264.2,NM_080683.2,NM_080684.2,NM_080685.2	,,,	0,3,5920	AA,AG,GG		0.0367,0.0,0.0253	,,,	1730/2467,1749/2486,1558/2295,1754/2491	87694009	3,11843	1834	4089	5923	SO:0001819	synonymous_variant	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87694009G>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5247G>A	4.37:g.87694009G>A						PTPN13_uc003hpy.2_Silent_p.S1754S|PTPN13_uc003hqa.2_Silent_p.S1730S|PTPN13_uc003hqb.2_Silent_p.S1558S|PTPN13_uc003hqc.1_Silent_p.S115S	p.S1749S	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	32	5727	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1749			Poly-Ser.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	c.5247G>A	CCDS47094.1																																																																																				0.408	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1				18	98	0	0	0	0.00499	0	18	98		
ADH6	130	broad.mit.edu	37	4	100129920	100129920	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:100129920G>C	ENST00000237653.7	-	6	1117	c.733C>G	c.(733-735)Cag>Gag	p.Q245E	RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.Q245E|ADH6_ENST00000407820.2_Missense_Mutation_p.Q36E|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Missense_Mutation_p.Q245E	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	245					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	TTTAAGTCCTGAGGGTTGAGG	0.438																																						uc003hup.3		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(733-735)CAG>GAG		class V alcohol dehydrogenase isoform 2	Abacavir(DB01048)|NADH(DB00157)						298.0	309.0	305.0					4																	100129920		2203	4300	6503	SO:0001583	missense	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100129920G>C	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.733C>G	4.37:g.100129920G>C	ENSP00000237653:p.Gln245Glu					uc003hum.1_Intron|ADH6_uc003huo.2_Missense_Mutation_p.Q245E|ADH6_uc011cef.1_Missense_Mutation_p.Q36E|ADH6_uc010ile.2_Missense_Mutation_p.Q245E	p.Q245E	NM_000672	NP_000663	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	6	827	-			245					B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	c.733C>G	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	G	9.386	1.074170	0.20227	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000407820;ENST00000237653;ENST00000508558	T;T;T;T;T	0.03920	3.76;3.76;3.76;3.76;3.76	4.41	3.54	0.40534	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.783620	0.12173	N	0.492880	T	0.05227	0.0139	L	0.39085	1.19	0.09310	N	0.999999	B;B;B;B	0.23990	0.008;0.004;0.003;0.095	B;B;B;B	0.13407	0.005;0.005;0.001;0.009	T	0.32241	-0.9914	10	0.66056	D	0.02	0.8038	9.5499	0.39304	0.0:0.1557:0.6829:0.1613	.	122;245;245;245	B4DPD8;E9PBI1;P28332;P28332-2	.;.;ADH6_HUMAN;.	E	245;245;36;245;181	ENSP00000378358:Q245E;ENSP00000378359:Q245E;ENSP00000384997:Q36E;ENSP00000237653:Q245E;ENSP00000426187:Q181E	ENSP00000237653:Q245E	Q	-	1	0	ADH6	100348943	0.000000	0.05858	0.255000	0.24374	0.413000	0.31143	0.899000	0.28417	0.917000	0.36895	0.557000	0.71058	CAG		0.438	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1		NM_000672		53	257	0	0	0	0.01441	0	53	257		
NDST4	64579	broad.mit.edu	37	4	115760536	115760536	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:115760536G>C	ENST00000264363.2	-	11	2962	c.2284C>G	c.(2284-2286)Cag>Gag	p.Q762E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	762	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GACATTACCTGAGAAGTAGCA	0.328																																						uc003ibu.2		NaN																	0				skin(3)|ovary(1)	4						c.(2284-2286)CAG>GAG		heparan sulfate N-deacetylase/N-sulfotransferase							116.0	110.0	112.0					4																	115760536		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115760536G>C	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2284C>G	4.37:g.115760536G>C	ENSP00000264363:p.Gln762Glu					NDST4_uc010imw.2_RNA	p.Q762E	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	11	2963	-		Ovarian(17;0.156)	762			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.2284C>G	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636393	0.87760	.	.	ENSG00000138653	ENST00000264363	T	0.60299	0.2	6.06	6.06	0.98353	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.83436	0.5254	H	0.95539	3.685	0.80722	D	1	D	0.58268	0.982	D	0.63381	0.914	D	0.87142	0.2203	10	0.87932	D	0	.	20.613	0.99472	0.0:0.0:1.0:0.0	.	762	Q9H3R1	NDST4_HUMAN	E	762	ENSP00000264363:Q762E	ENSP00000264363:Q762E	Q	-	1	0	NDST4	115979985	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.847000	0.92166	2.876000	0.98609	0.655000	0.94253	CAG		0.328	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1		NM_022569		29	63	0	0	0	0.010818	0	29	63		
IL21	59067	broad.mit.edu	37	4	123542141	123542141	+	Missense_Mutation	SNP	T	T	A	rs529234584		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:123542141T>A	ENST00000264497.3	-	1	83	c.26A>T	c.(25-27)gAg>gTg	p.E9V	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	2					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						GACAATCCTCTCCATGTTGCC	0.463																																						uc003ies.2		NaN																	0					0						c.(25-27)GAG>GTG		interleukin 21							147.0	138.0	141.0					4																	123542141		2203	4300	6503	SO:0001583	missense	59067				cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding	g.chr4:123542141T>A	AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"""Interleukins and interleukin receptors"""	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.26A>T	4.37:g.123542141T>A	ENSP00000264497:p.Glu9Val					uc003iet.2_RNA|IL21_uc010int.2_Missense_Mutation_p.E2V	p.E9V	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN			1	71	-			2					A5J0L4	Missense_Mutation	SNP	ENST00000264497.3	37	c.26A>T	CCDS3727.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.629341	0.67015	.	.	ENSG00000138684	ENST00000264497	.	.	.	5.43	2.88	0.33553	.	0.628530	0.14933	N	0.289952	T	0.29491	0.0735	L	0.32530	0.975	0.33177	D	0.54903	P;P	0.48016	0.904;0.845	B;B	0.43103	0.408;0.231	T	0.45556	-0.9253	9	0.66056	D	0.02	1.6084	2.7705	0.05333	0.1454:0.079:0.1512:0.6245	.	2;2	Q9HBE4-2;Q9HBE4	.;IL21_HUMAN	V	9	.	ENSP00000264497:E9V	E	-	2	0	IL21	123761591	0.943000	0.32029	0.998000	0.56505	0.971000	0.66376	1.052000	0.30429	0.912000	0.36772	0.533000	0.62120	GAG		0.463	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1		NM_021803		14	95	0	0	0	0.00499	0	14	95		
MFSD8	256471	broad.mit.edu	37	4	128851881	128851881	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:128851881C>T	ENST00000296468.3	-	10	1082	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	MFSD8_ENST00000541133.1_3'UTR|MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.E274K	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	319					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						ACAACGGCTTCAACCCCAAGA	0.318																																						uc003ifp.2		NaN																	0				ovary(1)|liver(1)	2						c.(955-957)GAA>AAA		major facilitator superfamily domain containing							113.0	120.0	118.0					4																	128851881		2203	4297	6500	SO:0001583	missense	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128851881C>T	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.955G>A	4.37:g.128851881C>T	ENSP00000296468:p.Glu319Lys					MFSD8_uc011cgu.1_Missense_Mutation_p.E274K|MFSD8_uc011cgv.1_Missense_Mutation_p.E281K|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_3'UTR	p.E319K	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN			10	1118	-			319			Helical; (Potential).		B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	ENST00000296468.3	37	c.955G>A	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949404	0.53186	.	.	ENSG00000164073	ENST00000296468;ENST00000513559	T;T	0.57436	0.4;0.4	5.1	4.25	0.50352	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.180678	0.47455	D	0.000237	T	0.61173	0.2326	M	0.64997	1.995	0.80722	D	1	P;P	0.51057	0.938;0.941	B;P	0.51615	0.391;0.675	T	0.63341	-0.6659	10	0.41790	T	0.15	-9.5576	15.7531	0.78001	0.0:0.8632:0.1368:0.0	.	281;319	B7Z280;Q8NHS3	.;MFSD8_HUMAN	K	319;274	ENSP00000296468:E319K;ENSP00000425000:E274K	ENSP00000296468:E319K	E	-	1	0	MFSD8	129071331	1.000000	0.71417	0.984000	0.44739	0.002000	0.02628	3.009000	0.49552	1.356000	0.45884	0.563000	0.77884	GAA		0.318	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1		NM_152778		49	124	0	0	0	0.01441	0	49	124		
PCDH18	54510	broad.mit.edu	37	4	138451064	138451064	+	Missense_Mutation	SNP	C	C	T	rs201322401		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:138451064C>T	ENST00000344876.4	-	1	2565	c.2179G>A	c.(2179-2181)Gag>Aag	p.E727K	PCDH18_ENST00000507846.1_Missense_Mutation_p.E507K|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.E727K|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	727					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCTTTCTTCTCGCGGTTACAC	0.458																																						uc003ihe.3		NaN																	0				pancreas(3)|skin(2)	5						c.(2179-2181)GAG>AAG		protocadherin 18 precursor							151.0	131.0	138.0					4																	138451064		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451064C>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2179G>A	4.37:g.138451064C>T	ENSP00000355082:p.Glu727Lys					PCDH18_uc003ihf.3_Missense_Mutation_p.E720K|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.E507K|PCDH18_uc011cha.1_Intron	p.E727K	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			1	2566	-	all_hematologic(180;0.24)		727			Cytoplasmic (Potential).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2179G>A	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485484	0.63962	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55930	0.57;0.59;0.49	5.53	5.53	0.82687	.	0.000000	0.43919	D	0.000506	T	0.71986	0.3405	M	0.75777	2.31	0.80722	D	1	D;P;D	0.89917	1.0;0.867;1.0	D;B;D	0.75484	0.986;0.428;0.986	T	0.64892	-0.6300	10	0.18710	T	0.47	.	19.663	0.95879	0.0:1.0:0.0:0.0	.	507;727;727	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	K	727;727;507	ENSP00000355082:E727K;ENSP00000390688:E727K;ENSP00000425903:E507K	ENSP00000355082:E727K	E	-	1	0	PCDH18	138670514	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	7.436000	0.80404	2.871000	0.98454	0.655000	0.94253	GAG		0.458	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1		NM_019035		18	45	0	0	0	0.006122	0	18	45		
FBXW7	55294	broad.mit.edu	37	4	153244235	153244235	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:153244235G>C	ENST00000281708.4	-	12	3151	c.1922C>G	c.(1921-1923)tCa>tGa	p.S641*	FBXW7_ENST00000296555.5_Nonsense_Mutation_p.S523*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.S641*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.S465*|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.S561*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.S641*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	641					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCCATCATCTGAGCTGGTAAT	0.428			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NaN		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		1	Unknown(1)		haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1921-1923)TCA>TGA		F-box and WD repeat domain containing 7 isoform							111.0	107.0	108.0					4																	153244235		2203	4300	6503	SO:0001587	stop_gained	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153244235G>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1922C>G	4.37:g.153244235G>C	ENSP00000281708:p.Ser641*					FBXW7_uc011cii.1_Nonsense_Mutation_p.S641*|FBXW7_uc003imt.2_Nonsense_Mutation_p.S641*|FBXW7_uc011cih.1_Nonsense_Mutation_p.S465*|FBXW7_uc003imq.2_Nonsense_Mutation_p.S561*|FBXW7_uc003imr.2_Nonsense_Mutation_p.S523*	p.S641*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			12	2071	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	641			WD 7.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	c.1922C>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857779	0.91433	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.6483	19.7667	0.96346	0.0:0.0:1.0:0.0	.	.	.	.	X	641;523;561;465	.	ENSP00000263981:S561X	S	-	2	0	FBXW7	153463685	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.827000	0.99397	2.681000	0.91329	0.655000	0.94253	TCA		0.428	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1				10	72	0	0	0	0.006214	0	10	72		
FGA	2243	broad.mit.edu	37	4	155507290	155507290	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:155507290C>T	ENST00000302053.3	-	5	1369	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	FGA_ENST00000403106.3_Missense_Mutation_p.E431K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	431					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ACCAGTTTTTCTGTGTGGTAC	0.507																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1		NaN																	0				ovary(2)|breast(1)	3						c.(1291-1293)GAA>AAA		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						179.0	186.0	184.0					4																	155507290		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507290C>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1291G>A	4.37:g.155507290C>T	ENSP00000306361:p.Glu431Lys					FGA_uc003ioe.1_Missense_Mutation_p.E431K|FGA_uc003iof.1_Intron	p.E431K	NM_000508	NP_000499	P02671	FIBA_HUMAN			5	1349	-	all_hematologic(180;0.215)	Renal(120;0.0458)	431			By similarity.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1291G>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187211	0.38609	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.56103	0.48;2.92	5.89	1.27	0.21489	.	19.359400	0.01392	N	0.013299	T	0.48857	0.1523	L	0.47716	1.5	0.09310	N	1	B;P	0.43231	0.019;0.801	B;B	0.38500	0.022;0.275	T	0.47005	-0.9150	10	0.49607	T	0.09	.	9.5215	0.39138	0.0:0.5868:0.0:0.4132	.	431;431	P02671-2;P02671	.;FIBA_HUMAN	K	431	ENSP00000306361:E431K;ENSP00000385981:E431K	ENSP00000306361:E431K	E	-	1	0	FGA	155726740	0.000000	0.05858	0.123000	0.21794	0.631000	0.37964	-0.175000	0.09825	0.421000	0.25980	0.655000	0.94253	GAA		0.507	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1		NM_000508		37	106	0	0	0	0.006999	0	37	106		
PALLD	23022	broad.mit.edu	37	4	169433557	169433557	+	Missense_Mutation	SNP	G	G	A	rs370466913		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:169433557G>A	ENST00000505667.1	+	2	1075	c.902G>A	c.(901-903)cGa>cAa	p.R301Q	PALLD_ENST00000261509.6_Missense_Mutation_p.R301Q|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_Missense_Mutation_p.R178Q			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	301	Ig-like C2-type 1.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CCCACTCCTCGAGTCAGGTAT	0.443									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	uc011cjx.1		NaN																	0				ovary(1)	1						c.(901-903)CGA>CAA		palladin isoform 2		G	GLN/ARG,GLN/ARG	1,4335		0,1,2167	26.0	26.0	26.0		902,902	2.5	0.0	4		26	0,8480		0,0,4240	no	missense,missense	PALLD	NM_001166108.1,NM_016081.3	43,43	0,1,6407	AA,AG,GG		0.0,0.0231,0.0078	possibly-damaging,possibly-damaging	301/1124,301/1107	169433557	1,12815	2168	4240	6408	SO:0001583	missense	23022	Pancreatic_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169433557G>A	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.902G>A	4.37:g.169433557G>A	ENSP00000425556:p.Arg301Gln					PALLD_uc003iru.2_Missense_Mutation_p.R301Q	p.R301Q	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	2	1113	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	301			Ig-like C2-type 1.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.902G>A	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.618867	0.00828	2.31E-4	0.0	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.24	2.47	0.30058	.	1.277500	0.06616	U	0.756490	T	0.49081	0.1536	N	0.16233	0.39	0.09310	N	0.999992	D;P	0.55800	0.973;0.652	P;B	0.47786	0.557;0.242	T	0.29243	-1.0018	10	0.12766	T	0.61	.	7.5179	0.27612	0.528:0.0:0.472:0.0	.	301;301	B7ZMM5;B2RTX2	.;.	Q	301;301;280;178	ENSP00000261509:R301Q;ENSP00000425556:R301Q;ENSP00000423063:R280Q;ENSP00000328945:R178Q	ENSP00000261509:R301Q	R	+	2	0	PALLD	169670132	0.015000	0.18098	0.000000	0.03702	0.108000	0.19459	2.025000	0.41059	0.183000	0.20059	0.467000	0.42956	CGA		0.443	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1		NM_016081		12	20	0	0	0	0.013537	0	12	20		
HMGB2	3148	broad.mit.edu	37	4	174254744	174254744	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:174254744G>A	ENST00000296503.5	-	2	930	c.57C>T	c.(55-57)ttC>ttT	p.F19F	HMGB2_ENST00000446922.2_Silent_p.F19F|HMGB2_ENST00000438704.2_Silent_p.F19F			P26583	HMGB2_HUMAN	high mobility group box 2	19					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.F19F(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		AGGTCTGCACGAAGAAGGCGT	0.582																																						uc011ckc.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(55-57)TTC>TTT		high-mobility group box 2							84.0	84.0	84.0					4																	174254744		2203	4300	6503	SO:0001819	synonymous_variant	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174254744G>A		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.57C>T	4.37:g.174254744G>A						HMGB2_uc003ita.3_Silent_p.F19F|HMGB2_uc003itb.2_Silent_p.F19F|HMGB2_uc003itc.2_Silent_p.F19F	p.F19F	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	177	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	19			HMG box 1.		B2R4K8|D3DP37|Q5U072	Silent	SNP	ENST00000296503.5	37	c.57C>T	CCDS3816.1																																																																																				0.582	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1		NM_001130688		33	53	0	0	0	0.013726	0	33	53		
FRG1	2483	broad.mit.edu	37	4	190884260	190884260	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr4:190884260G>A	ENST00000226798.4	+	9	975	c.753G>A	c.(751-753)ttG>ttA	p.L251L		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	251					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GAGCCAAATTGAAAGCCGACA	0.299																																						uc003izs.2		NaN																	0					0						c.(751-753)TTG>TTA		FSHD region gene 1							93.0	106.0	101.0					4																	190884260		2203	4300	6503	SO:0001819	synonymous_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190884260G>A	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.753G>A	4.37:g.190884260G>A							p.L251L	NM_004477	NP_004468	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	9	944	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	251			Bipartite nuclear localization signal (Potential).		A8K775	Silent	SNP	ENST00000226798.4	37	c.753G>A	CCDS34121.1																																																																																				0.299	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4		NM_004477		8	29	0	0	0	0.006214	0	8	29		
CEP72	55722	broad.mit.edu	37	5	637673	637673	+	Missense_Mutation	SNP	G	G	C	rs150376362	byFrequency	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:637673G>C	ENST00000264935.5	+	7	1036	c.946G>C	c.(946-948)Gat>Cat	p.D316H	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	316					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TCAGAAGTTGGATTTGTCAGG	0.547																																						uc003jbf.2		NaN																	0				ovary(1)	1						c.(946-948)GAT>CAT		centrosomal protein 72 kDa							63.0	65.0	64.0					5																	637673		2203	4300	6503	SO:0001583	missense	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:637673G>C	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.946G>C	5.37:g.637673G>C	ENSP00000264935:p.Asp316His					CEP72_uc011clz.1_RNA	p.D316H	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		7	1018	+			316					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	c.946G>C	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580106	0.28180	.	.	ENSG00000112877	ENST00000264935	T	0.08807	3.05	4.76	1.23	0.21249	.	4.593540	0.00397	N	0.000057	T	0.07052	0.0179	N	0.22421	0.69	0.09310	N	1	P	0.43352	0.804	B	0.37780	0.258	T	0.27400	-1.0075	10	0.59425	D	0.04	-5.7418	5.8016	0.18417	0.6568:0.0:0.3432:0.0	.	316	Q9P209	CEP72_HUMAN	H	316	ENSP00000264935:D316H	ENSP00000264935:D316H	D	+	1	0	CEP72	690673	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.661000	0.25023	0.395000	0.25257	-0.367000	0.07326	GAT		0.547	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3		NM_018140		20	55	0	0	0	0.012319	0	20	55		
TERT	7015	broad.mit.edu	37	5	1268641	1268641	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:1268641C>T	ENST00000310581.5	-	9	2633	c.2576G>A	c.(2575-2577)cGg>cAg	p.R859Q	TERT_ENST00000296820.5_Silent_p.A798A|TERT_ENST00000508104.2_Silent_p.A798A|TERT_ENST00000334602.6_Missense_Mutation_p.R859Q	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	859	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	TCACCCGTCCCGCCGAATCCC	0.597									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													uc003jcb.1		NaN																	0				lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12						c.(2575-2577)CGG>CAG		telomerase reverse transcriptase isoform 1							46.0	45.0	45.0					5																	1268641		2202	4300	6502	SO:0001583	missense	7015	TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1268641C>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2576G>A	5.37:g.1268641C>T	ENSP00000309572:p.Arg859Gln					TERT_uc003jbz.1_Missense_Mutation_p.R55Q|TERT_uc003jca.1_Missense_Mutation_p.R847Q|TERT_uc003jcc.1_Missense_Mutation_p.R859Q|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	p.R859Q	NM_198253	NP_937983	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		9	2634	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		859			Reverse transcriptase.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.2576G>A	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.546422	0.00926	.	.	ENSG00000164362	ENST00000310581;ENST00000334602	D;D	0.98249	-4.82;-4.82	3.96	-1.99	0.07457	Reverse transcriptase (2);	0.288885	0.31989	N	0.006754	D	0.87748	0.6255	N	0.00771	-1.2	0.80722	D	1	B;B	0.20988	0.006;0.05	B;B	0.12837	0.001;0.008	T	0.75645	-0.3246	10	0.11794	T	0.64	-28.0752	8.1643	0.31217	0.0:0.3768:0.0:0.6232	.	859;859	O14746-3;O14746	.;TERT_HUMAN	Q	859	ENSP00000309572:R859Q;ENSP00000334346:R859Q	ENSP00000309572:R859Q	R	-	2	0	TERT	1321641	0.001000	0.12720	0.249000	0.24280	0.183000	0.23260	-0.806000	0.04525	-0.600000	0.05790	-0.254000	0.11334	CGG		0.597	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2				5	49	0	0	0	0.001168	0	5	49		
DNAH5	1767	broad.mit.edu	37	5	13823435	13823435	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:13823435G>C	ENST00000265104.4	-	40	6728	c.6624C>G	c.(6622-6624)ctC>ctG	p.L2208L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2208					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATTTGGAAAGAGATCTTCAA	0.383									Kartagener syndrome																													uc003jfd.2		NaN																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(6622-6624)CTC>CTG		dynein, axonemal, heavy chain 5							136.0	141.0	139.0					5																	13823435		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13823435G>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6624C>G	5.37:g.13823435G>C							p.L2208L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			40	6666	-	Lung NSC(4;0.00476)		2208					Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.6624C>G	CCDS3882.1																																																																																				0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		10	122	0	0	0	0.010729	0	10	122		
CDH18	1016	broad.mit.edu	37	5	19591215	19591215	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:19591215G>A	ENST00000507958.1	-	9	1940	c.950C>T	c.(949-951)tCa>tTa	p.S317L	CDH18_ENST00000502796.1_Missense_Mutation_p.S317L|CDH18_ENST00000511273.1_Missense_Mutation_p.S317L|CDH18_ENST00000274170.4_Missense_Mutation_p.S317L|CDH18_ENST00000382275.1_Missense_Mutation_p.S317L|CDH18_ENST00000506372.1_Missense_Mutation_p.S317L			Q13634	CAD18_HUMAN	cadherin 18, type 2	317	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGTGGAGATTGAGAATATTCC	0.408																																						uc003jgc.2		NaN																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(949-951)TCA>TTA		cadherin 18, type 2 preproprotein							143.0	122.0	129.0					5																	19591215		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19591215G>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.950C>T	5.37:g.19591215G>A	ENSP00000425093:p.Ser317Leu					CDH18_uc003jgd.2_Missense_Mutation_p.S317L|CDH18_uc011cnm.1_Missense_Mutation_p.S317L	p.S317L	NM_004934	NP_004925	Q13634	CAD18_HUMAN			6	1327	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		317			Extracellular (Potential).|Cadherin 3.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.950C>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.651497	0.67472	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6	5.24	5.24	0.73138	Cadherin (4);Cadherin-like (1);	0.056885	0.64402	D	0.000001	T	0.60038	0.2238	L	0.54965	1.715	0.54753	D	0.999988	B;B	0.27765	0.188;0.146	B;B	0.43155	0.41;0.219	T	0.55848	-0.8076	9	.	.	.	.	17.3872	0.87420	0.0:0.0:1.0:0.0	.	317;317	B4DHG6;Q13634	.;CAD18_HUMAN	L	317;317;317;317;317;317;263;317	ENSP00000371710:S317L;ENSP00000425093:S317L;ENSP00000274170:S317L;ENSP00000424931:S317L;ENSP00000422138:S317L;ENSP00000427383:S263L;ENSP00000425854:S317L	.	S	-	2	0	CDH18	19626972	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	5.990000	0.70595	2.428000	0.82296	0.650000	0.86243	TCA		0.408	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1		NM_004934		10	129	0	0	0	0.008291	0	10	129		
HMGCS1	3157	broad.mit.edu	37	5	43298164	43298164	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:43298164A>G	ENST00000325110.6	-	4	727	c.521T>C	c.(520-522)gTt>gCt	p.V174A	HMGCS1_ENST00000433297.2_Missense_Mutation_p.V174A	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	174					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						TACTGCTCCAACTCCACCTGT	0.398																																						uc003jnr.3		NaN																	0					0						c.(520-522)GTT>GCT		hydroxymethylglutaryl-CoA synthase 1							101.0	98.0	99.0					5																	43298164		2203	4300	6503	SO:0001583	missense	3157				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	g.chr5:43298164A>G		CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.521T>C	5.37:g.43298164A>G	ENSP00000322706:p.Val174Ala					HMGCS1_uc003jnq.3_Missense_Mutation_p.V174A	p.V174A	NM_001098272	NP_001091742	Q01581	HMCS1_HUMAN			4	728	-			174					B2RDL8	Missense_Mutation	SNP	ENST00000325110.6	37	c.521T>C	CCDS34154.1	.	.	.	.	.	.	.	.	.	.	A	7.834	0.720463	0.15372	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275	D;D	0.86956	-2.19;-2.19	5.75	-0.824	0.10812	Hydroxymethylglutaryl-coenzyme A synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.248625	0.46758	N	0.000272	T	0.47600	0.1454	N	0.00045	-2.45	0.40669	D	0.982196	B	0.02656	0.0	B	0.06405	0.002	T	0.59710	-0.7403	10	0.02654	T	1	-11.7857	12.3663	0.55230	0.2437:0.0:0.7563:0.0	.	174	Q01581	HMCS1_HUMAN	A	174;174;163	ENSP00000322706:V174A;ENSP00000399402:V174A	ENSP00000322706:V174A	V	-	2	0	HMGCS1	43333921	1.000000	0.71417	0.625000	0.29200	0.994000	0.84299	3.206000	0.51098	-0.180000	0.10637	0.533000	0.62120	GTT		0.398	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1				24	95	0	0	0	0.007291	0	24	95		
MAN2A1	4124	broad.mit.edu	37	5	109191017	109191017	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:109191017G>C	ENST00000261483.4	+	20	4205	c.3153G>C	c.(3151-3153)ttG>ttC	p.L1051F	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1051					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TGGTTAATTTGAGAACAATAC	0.338																																						uc003kou.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3151-3153)TTG>TTC		mannosidase, alpha, class 2A, member 1							105.0	90.0	95.0					5																	109191017		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109191017G>C		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3153G>C	5.37:g.109191017G>C	ENSP00000261483:p.Leu1051Phe						p.L1051F	NM_002372	NP_002363	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	20	4116	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	1051			Lumenal (Potential).		Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.3153G>C	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610326	0.66558	.	.	ENSG00000112893	ENST00000261483	D	0.87650	-2.28	6.03	2.82	0.32997	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.64402	D	0.000001	D	0.89894	0.6847	M	0.74389	2.26	0.51482	D	0.999921	D	0.54207	0.965	P	0.57371	0.819	D	0.88167	0.2861	10	0.46703	T	0.11	-11.1524	8.8684	0.35300	0.1865:0.0:0.696:0.1175	.	1051	Q16706	MA2A1_HUMAN	F	1051	ENSP00000261483:L1051F	ENSP00000261483:L1051F	L	+	3	2	MAN2A1	109218916	0.996000	0.38824	1.000000	0.80357	0.991000	0.79684	0.168000	0.16622	0.852000	0.35287	0.655000	0.94253	TTG		0.338	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1				14	24	0	0	0	0.00499	0	14	24		
ANKHD1	54882	broad.mit.edu	37	5	139781720	139781720	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:139781720C>T	ENST00000360839.2	+	1	322	c.168C>T	c.(166-168)gtC>gtT	p.V56V	ANKHD1_ENST00000394723.3_Silent_p.V56V|CTC-329D1.2_ENST00000507521.1_RNA|ANKHD1_ENST00000394722.3_Silent_p.V56V|ANKHD1_ENST00000297183.6_Silent_p.V56V|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.V56V	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	56	Gly-rich.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCGGGAGTcggcagcagcg	0.766																																						uc003lfs.1		NaN																	0				ovary(6)	6						c.(166-168)GTC>GTT		ANKHD1-EIF4EBP3 protein							5.0	8.0	7.0					5																	139781720		1950	3879	5829	SO:0001819	synonymous_variant	404734					cytoplasm|nucleus	RNA binding	g.chr5:139781720C>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.168C>T	5.37:g.139781720C>T						ANKHD1_uc003lfq.1_Silent_p.V56V|ANKHD1_uc003lfr.2_Silent_p.V56V|uc003lfn.2_5'Flank|ANKHD1_uc003lfp.2_Silent_p.V56V|ANKHD1_uc003lfo.2_Silent_p.V56V|ANKHD1_uc010jfk.2_Silent_p.V56V	p.V56V	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	292	+			56					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	c.168C>T	CCDS4225.1																																																																																				0.766	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1		NM_017747		3	6	0	0	0	0.004672	0	3	6		
ANKHD1	54882	broad.mit.edu	37	5	139905682	139905682	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:139905682A>G	ENST00000360839.2	+	26	4748	c.4594A>G	c.(4594-4596)Agg>Ggg	p.R1532G	SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000544120.1_5'Flank|ANKHD1_ENST00000297183.6_Missense_Mutation_p.R1532G|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R1532G	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1532						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGAAAAAAAGGGCCAATGT	0.423																																						uc003lfs.1		NaN																	0				ovary(6)	6						c.(4594-4596)AGG>GGG		ANKHD1-EIF4EBP3 protein							136.0	150.0	145.0					5																	139905682		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139905682A>G	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4594A>G	5.37:g.139905682A>G	ENSP00000354085:p.Arg1532Gly					ANKHD1_uc003lfr.2_Missense_Mutation_p.R1532G|ANKHD1_uc003lfu.1_Missense_Mutation_p.R1012G|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.R271G|ANKHD1_uc003lfw.2_Missense_Mutation_p.R170G|ANKHD1_uc010jfl.2_5'UTR|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	p.R1532G	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		26	4718	+			1532					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.4594A>G	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.83|17.83	3.485786|3.485786	0.63962|0.63962	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000435794|ENST00000360839;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000431508;ENST00000433049;ENST00000532219	T|T;T;T;T;T;T	0.28255|0.71698	1.62|-0.32;-0.36;-0.59;1.61;1.37;-0.36	5.63|5.63	1.66|1.66	0.24008|0.24008	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80042|0.80042	0.4551|0.4551	L|L	0.56769|0.56769	1.78|1.78	0.51233|0.51233	D|D	0.999914|0.999914	.|D;D;D;D	.|0.71674	.|0.998;0.996;0.993;0.981	.|D;D;D;D	.|0.77557	.|0.987;0.99;0.977;0.966	T|T	0.79738|0.79738	-0.1677|-0.1677	7|10	0.40728|0.62326	T|D	0.16|0.03	.|.	14.5472|14.5472	0.68041|0.68041	0.6655:0.3345:0.0:0.0|0.6655:0.3345:0.0:0.0	.|.	.|1532;1532;1532;1532	.|E9PF56;Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.|.;.;.;ANKH1_HUMAN	R|G	22|1532;1532;1532;1551;188;54;1532	ENSP00000410959:K22R|ENSP00000354085:R1532G;ENSP00000297183:R1532G;ENSP00000394489:R1551G;ENSP00000393204:R188G;ENSP00000390034:R54G;ENSP00000432016:R1532G	ENSP00000410959:K22R|ENSP00000432016:R1532G	K|R	+|+	2|1	0|2	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139885866|139885866	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	3.548000|3.548000	0.53670|0.53670	0.073000|0.073000	0.16731|0.16731	-1.334000|-1.334000	0.01262|0.01262	AAG|AGG		0.423	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1		NM_017747		3	104	0	0	0	0.004672	0	3	104		
MGAT1	4245	broad.mit.edu	37	5	180219305	180219305	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:180219305G>A	ENST00000446023.2	-	3	1417	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	MGAT1_ENST00000427865.2_Missense_Mutation_p.R223W|MGAT1_ENST00000333055.3_Missense_Mutation_p.R223W|MGAT1_ENST00000307826.4_Missense_Mutation_p.R223W|MGAT1_ENST00000393340.3_Missense_Mutation_p.R223W	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	223			R -> Q (in dbSNP:rs7726005).		carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGGTGGCCCGAAAGTACTCG	0.667																																						uc003mmg.3		NaN																	0				ovary(1)	1						c.(667-669)CGG>TGG		mannosyl (alpha-1,3-)-glycoprotein							32.0	35.0	34.0					5																	180219305		2195	4292	6487	SO:0001583	missense	4245				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:180219305G>A	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.667C>T	5.37:g.180219305G>A	ENSP00000404718:p.Arg223Trp					MGAT1_uc010jlf.2_Missense_Mutation_p.R223W|MGAT1_uc010jlg.2_Missense_Mutation_p.R223W|MGAT1_uc003mmh.3_Missense_Mutation_p.R223W|MGAT1_uc010jlh.2_Missense_Mutation_p.R223W|MGAT1_uc003mmi.3_Missense_Mutation_p.R223W	p.R223W	NM_002406	NP_002397	P26572	MGAT1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1162	-	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	223			Lumenal (Potential).		A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	c.667C>T	CCDS4458.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767895	0.69878	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000452920;ENST00000427865	D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95	5.56	5.56	0.83823	.	0.067962	0.64402	D	0.000010	D	0.88269	0.6391	M	0.61703	1.905	0.33307	D	0.565609	D	0.53745	0.962	P	0.51453	0.67	D	0.91830	0.5474	10	0.66056	D	0.02	-18.0177	17.3815	0.87406	0.0:0.0:1.0:0.0	.	223	P26572	MGAT1_HUMAN	W	223;223;223;223;80;223	ENSP00000332073:R223W;ENSP00000311888:R223W;ENSP00000404718:R223W;ENSP00000377010:R223W;ENSP00000402838:R223W	ENSP00000311888:R223W	R	-	1	2	MGAT1	180151911	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	5.863000	0.69568	2.777000	0.95525	0.655000	0.94253	CGG		0.667	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1		NM_001114618		22	36	0	0	0	0.012319	0	22	36		
MGAT1	4245	broad.mit.edu	37	5	180219511	180219511	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr5:180219511G>C	ENST00000446023.2	-	3	1211	c.461C>G	c.(460-462)tCc>tGc	p.S154C	MGAT1_ENST00000427865.2_Missense_Mutation_p.S154C|MGAT1_ENST00000333055.3_Missense_Mutation_p.S154C|MGAT1_ENST00000307826.4_Missense_Mutation_p.S154C|MGAT1_ENST00000393340.3_Missense_Mutation_p.S154C	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	154					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGCCGTAGGAGGCGATGGC	0.662																																						uc003mmg.3		NaN																	0				ovary(1)	1						c.(460-462)TCC>TGC		mannosyl (alpha-1,3-)-glycoprotein							42.0	42.0	42.0					5																	180219511		2202	4297	6499	SO:0001583	missense	4245				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:180219511G>C	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.461C>G	5.37:g.180219511G>C	ENSP00000404718:p.Ser154Cys					MGAT1_uc010jlf.2_Missense_Mutation_p.S154C|MGAT1_uc010jlg.2_Missense_Mutation_p.S154C|MGAT1_uc003mmh.3_Missense_Mutation_p.S154C|MGAT1_uc010jlh.2_Missense_Mutation_p.S154C|MGAT1_uc003mmi.3_Missense_Mutation_p.S154C	p.S154C	NM_002406	NP_002397	P26572	MGAT1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	956	-	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	154			Lumenal (Potential).		A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	c.461C>G	CCDS4458.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118303	0.56505	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000427865;ENST00000504671	D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.92545	0.7632	M	0.86268	2.805	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.93570	0.6903	10	0.87932	D	0	-32.2454	15.3702	0.74557	0.0:0.0:1.0:0.0	.	154	P26572	MGAT1_HUMAN	C	154	ENSP00000332073:S154C;ENSP00000311888:S154C;ENSP00000404718:S154C;ENSP00000377010:S154C;ENSP00000402838:S154C;ENSP00000424891:S154C	ENSP00000311888:S154C	S	-	2	0	MGAT1	180152117	1.000000	0.71417	0.993000	0.49108	0.203000	0.24098	8.588000	0.90813	2.571000	0.86741	0.561000	0.74099	TCC		0.662	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1		NM_001114618		23	33	0	0	0	0.004656	0	23	33		
DTNBP1	84062	broad.mit.edu	37	6	15627595	15627595	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:15627595C>T	ENST00000344537.5	-	5	506	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	DTNBP1_ENST00000338950.5_Missense_Mutation_p.E112K|DTNBP1_ENST00000355917.3_Missense_Mutation_p.E112K	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	112					actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GTCATGGATTCTAAGTCTGCG	0.453									Hermansky-Pudlak syndrome																													uc003nbm.2		NaN																	0					0						c.(334-336)GAA>AAA		dystrobrevin binding protein 1 isoform a							64.0	65.0	64.0					6																	15627595		2203	4300	6503	SO:0001583	missense	84062	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding	g.chr6:15627595C>T	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"""Biogenesis of lysosomal organelles complex-1 subunits"""	17328	protein-coding gene	gene with protein product	"""dysbindin-1"", ""biogenesis of lysosomal organelles complex-1, subunit 8"""	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.334G>A	6.37:g.15627595C>T	ENSP00000341680:p.Glu112Lys					DTNBP1_uc003nbl.2_Missense_Mutation_p.E31K|DTNBP1_uc003nbn.2_RNA|DTNBP1_uc003nbo.2_RNA|DTNBP1_uc003nbp.2_Missense_Mutation_p.E112K|DTNBP1_uc010jph.2_Missense_Mutation_p.E99K	p.E112K	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Epithelial(50;0.211)		5	505	-	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	112			Potential.		A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Missense_Mutation	SNP	ENST00000344537.5	37	c.334G>A	CCDS4534.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311853	0.81358	.	.	ENSG00000047579	ENST00000344537;ENST00000355917;ENST00000397306;ENST00000511762;ENST00000338950;ENST00000543749	T;T;T	0.33216	1.42;1.42;1.43	5.43	5.43	0.79202	.	0.000000	0.56097	D	0.000031	T	0.45677	0.1354	L	0.58302	1.8	0.53005	D	0.999968	D;D;D	0.71674	0.998;0.992;0.997	D;P;P	0.68621	0.959;0.857;0.867	T	0.39663	-0.9603	10	0.72032	D	0.01	.	18.3733	0.90420	0.0:1.0:0.0:0.0	.	112;112;112	F5GY46;Q96EV8-2;Q96EV8	.;.;DTBP1_HUMAN	K	112;112;31;77;112;112	ENSP00000341680:E112K;ENSP00000348183:E112K;ENSP00000344718:E112K	ENSP00000344718:E112K	E	-	1	0	DTNBP1	15735574	1.000000	0.71417	0.341000	0.25589	0.823000	0.46562	4.189000	0.58358	2.714000	0.92807	0.650000	0.86243	GAA		0.453	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000039933.2		NM_032122		14	55	0	0	0	0.003163	0	14	55		
KIF13A	63971	broad.mit.edu	37	6	17850667	17850667	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:17850667C>T	ENST00000259711.6	-	8	709	c.604G>A	c.(604-606)Gag>Aag	p.E202K	KIF13A_ENST00000378826.2_Missense_Mutation_p.E202K|KIF13A_ENST00000378843.2_Missense_Mutation_p.E202K|KIF13A_ENST00000378816.5_Missense_Mutation_p.E202K|KIF13A_ENST00000378814.5_Missense_Mutation_p.E202K	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	202	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTATTTCCCTCAGACATCAAT	0.413																																						uc003ncg.3		NaN																	0				large_intestine(2)|ovary(2)	4						c.(604-606)GAG>AAG		kinesin family member 13A isoform a							88.0	86.0	86.0					6																	17850667		1928	4120	6048	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17850667C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.604G>A	6.37:g.17850667C>T	ENSP00000259711:p.Glu202Lys					KIF13A_uc003ncf.2_Missense_Mutation_p.E202K|KIF13A_uc003nch.3_Missense_Mutation_p.E202K|KIF13A_uc003nci.3_Missense_Mutation_p.E202K	p.E202K	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		8	709	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	202			Kinesin-motor.		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.604G>A	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	36	5.770844	0.96914	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84	5.78	5.78	0.91487	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	N	0.17800	0.525	0.80722	D	1	D;D;P;D	0.71674	0.971;0.998;0.887;0.998	P;D;P;D	0.80764	0.891;0.994;0.896;0.994	T	0.79617	-0.1729	10	0.87932	D	0	.	20.0139	0.97470	0.0:1.0:0.0:0.0	.	202;202;202;202	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	K	202	ENSP00000368091:E202K;ENSP00000259711:E202K;ENSP00000368103:E202K;ENSP00000368120:E202K;ENSP00000368093:E202K	ENSP00000259711:E202K	E	-	1	0	KIF13A	17958646	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.461000	0.80834	2.724000	0.93272	0.563000	0.77884	GAG		0.413	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4				6	8	0	0	0	0.001168	0	6	8		
E2F3	1871	broad.mit.edu	37	6	20490417	20490417	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:20490417C>G	ENST00000346618.3	+	7	1220	c.1154C>G	c.(1153-1155)tCa>tGa	p.S385*	E2F3_ENST00000535432.1_Nonsense_Mutation_p.S254*	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	385					mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			TCAACCAACTCAGGACATAGC	0.398																																						uc003nda.2		NaN																	0				lung(1)	1						c.(1153-1155)TCA>TGA		E2F transcription factor 3							73.0	73.0	73.0					6																	20490417		2203	4300	6503	SO:0001587	stop_gained	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20490417C>G	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.1154C>G	6.37:g.20490417C>G	ENSP00000262904:p.Ser385*						p.S385*	NM_001949	NP_001940	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		7	1481	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		385					Q15000|Q68DT0|Q9BZ44	Nonsense_Mutation	SNP	ENST00000346618.3	37	c.1154C>G	CCDS4545.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455678	0.84209	.	.	ENSG00000112242	ENST00000346618;ENST00000535432	.	.	.	5.49	5.49	0.81192	.	0.000000	0.47455	D	0.000222	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	13.0225	0.58796	0.0:0.926:0.0:0.074	.	.	.	.	X	385;254	.	ENSP00000262904:S385X	S	+	2	0	E2F3	20598396	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.372000	0.44257	2.746000	0.94184	0.561000	0.74099	TCA		0.398	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1				15	97	0	0	0	0.007413	0	15	97		
TDP2	51567	broad.mit.edu	37	6	24666972	24666972	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:24666972G>A	ENST00000378198.4	-	1	289	c.119C>T	c.(118-120)gCc>gTc	p.A40V	TDP2_ENST00000341060.3_5'Flank|ACOT13_ENST00000230048.4_5'Flank|TDP2_ENST00000545995.1_Missense_Mutation_p.A70V|ACOT13_ENST00000537591.1_5'Flank			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	40					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						AGCCACTGCGGCATCGCAGCT	0.632								Direct reversal of damage																														uc003nej.2		NaN																	0				ovary(1)|lung(1)	2						c.(118-120)GCC>GTC	Direct_reversal_of_damage|Editing_and_processing_nucleases	TRAF and TNF receptor-associated protein							162.0	176.0	171.0					6																	24666972		2203	4300	6503	SO:0001583	missense	51567				cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity	g.chr6:24666972G>A	AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"""TRAF and TNF receptor associated protein"""	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.119C>T	6.37:g.24666972G>A	ENSP00000367440:p.Ala40Val					TDP2_uc003nei.2_5'Flank|TDP2_uc010jpu.1_Missense_Mutation_p.A40V|ACOT13_uc010jpv.2_5'Flank|ACOT13_uc003nek.2_5'Flank	p.A40V	NM_016614	NP_057698	O95551	TYDP2_HUMAN			1	144	-			40					B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Missense_Mutation	SNP	ENST00000378198.4	37	c.119C>T	CCDS4557.1	.	.	.	.	.	.	.	.	.	.	G	9.102	1.004509	0.19199	.	.	ENSG00000111802	ENST00000378198;ENST00000545995;ENST00000545780	T;T	0.22539	1.95;1.95	5.09	-0.613	0.11594	UBA-like (1);	1.677250	0.03002	N	0.148341	T	0.03827	0.0108	N	0.25647	0.755	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.11329	0.006;0.001	T	0.32824	-0.9892	10	0.29301	T	0.29	-17.6758	0.8807	0.01233	0.1939:0.1447:0.2626:0.3989	.	70;40	O95551-2;O95551	.;TYDP2_HUMAN	V	40;70;40	ENSP00000367440:A40V;ENSP00000437637:A70V	ENSP00000367440:A40V	A	-	2	0	TDP2	24774951	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.153000	0.10144	-0.022000	0.13986	0.655000	0.94253	GCC		0.632	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1				5	242	0	0	0	0.001984	0	5	242		
BTN3A3	10384	broad.mit.edu	37	6	26444194	26444194	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:26444194C>G	ENST00000244519.2	+	4	338	c.95C>G	c.(94-96)tCt>tGt	p.S32C	BTN3A3_ENST00000361232.3_5'UTR|BTN3A3_ENST00000339789.4_5'UTR	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	32	Ig-like V-type 1.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						GCTCAGTTTTCTGTGCTTGGA	0.577																																						uc003nhz.2		NaN																	0					0						c.(94-96)TCT>TGT		butyrophilin, subfamily 3, member A3 isoform a							41.0	40.0	40.0					6																	26444194		2201	4294	6495	SO:0001583	missense	10384					integral to membrane		g.chr6:26444194C>G	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.95C>G	6.37:g.26444194C>G	ENSP00000244519:p.Ser32Cys					BTN3A3_uc003nia.2_5'UTR|BTN3A3_uc011dkn.1_5'UTR	p.S32C	NM_006994	NP_008925	O00478	BT3A3_HUMAN			4	275	+			32			Extracellular (Potential).|Ig-like V-type 1.		B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	c.95C>G	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025005	0.35701	.	.	ENSG00000111801	ENST00000494393;ENST00000244519;ENST00000496719	T;T;T	0.67345	-0.26;-0.26;-0.26	2.74	-5.47	0.02600	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44350	0.1289	M	0.69823	2.125	0.09310	N	0.999999	P	0.35107	0.484	B	0.41691	0.364	T	0.53408	-0.8443	9	0.59425	D	0.04	.	4.842	0.13494	0.5997:0.1803:0.0:0.22	.	32	O00478	BT3A3_HUMAN	C	32	ENSP00000417234:S32C;ENSP00000244519:S32C;ENSP00000420147:S32C	ENSP00000244519:S32C	S	+	2	0	BTN3A3	26552173	0.000000	0.05858	0.000000	0.03702	0.206000	0.24218	-3.600000	0.00418	-1.568000	0.01670	0.555000	0.69702	TCT		0.577	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2		NM_006994		15	44	0	0	0	0.00499	0	15	44		
BTN3A3	10384	broad.mit.edu	37	6	26444498	26444498	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:26444498C>G	ENST00000244519.2	+	4	642	c.399C>G	c.(397-399)ttC>ttG	p.F133L	BTN3A3_ENST00000361232.3_Missense_Mutation_p.F91L|BTN3A3_ENST00000339789.4_Missense_Mutation_p.F91L	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	133	Ig-like V-type 1.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						ATGGTGACTTCTACGAAAAAG	0.507																																						uc003nhz.2		NaN																	0					0						c.(397-399)TTC>TTG		butyrophilin, subfamily 3, member A3 isoform a							141.0	136.0	138.0					6																	26444498		2203	4300	6503	SO:0001583	missense	10384					integral to membrane		g.chr6:26444498C>G	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.399C>G	6.37:g.26444498C>G	ENSP00000244519:p.Phe133Leu					BTN3A3_uc003nia.2_Missense_Mutation_p.F91L|BTN3A3_uc011dkn.1_Missense_Mutation_p.F91L	p.F133L	NM_006994	NP_008925	O00478	BT3A3_HUMAN			4	579	+			133			Extracellular (Potential).|Ig-like V-type 1.		B4DWI7|E9PCP5	Missense_Mutation	SNP	ENST00000244519.2	37	c.399C>G	CCDS4611.1	.	.	.	.	.	.	.	.	.	.	C	9.070	0.996716	0.19043	.	.	ENSG00000111801	ENST00000494393;ENST00000482451;ENST00000244519;ENST00000339789;ENST00000471353;ENST00000361232;ENST00000487627;ENST00000496719;ENST00000490254;ENST00000476281;ENST00000487272	T;T;T;T;T;T;T;T;T;T	0.65732	-0.17;4.28;4.28;4.28;4.28;4.28;4.28;4.28;4.28;4.28	2.5	2.5	0.30297	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48370	0.1496	L	0.38692	1.165	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.992	T	0.26916	-1.0089	9	0.17369	T	0.5	.	5.2871	0.15708	0.0:0.8406:0.0:0.1594	.	91;133	E9PCP5;O00478	.;BT3A3_HUMAN	L	133;115;133;91;91;91;91;133;91;91;91	ENSP00000417234:F133L;ENSP00000419312:F115L;ENSP00000244519:F133L;ENSP00000344968:F91L;ENSP00000417717:F91L;ENSP00000355238:F91L;ENSP00000420339:F91L;ENSP00000420147:F133L;ENSP00000419736:F91L;ENSP00000419445:F91L	ENSP00000244519:F133L	F	+	3	2	BTN3A3	26552477	0.000000	0.05858	0.008000	0.14137	0.948000	0.59901	0.239000	0.18023	1.703000	0.51240	0.555000	0.69702	TTC		0.507	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2		NM_006994		37	97	0	0	0	0.007835	0	37	97		
BTN1A1	696	broad.mit.edu	37	6	26508197	26508197	+	Splice_Site	SNP	C	C	T	rs199618122	byFrequency	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:26508197C>T	ENST00000244513.6	+	5	945	c.879C>T	c.(877-879)ctC>ctT	p.L293L		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	293	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TGGAAGAACTCAGTAAGTTCT	0.383													C|||	2	0.000399361	0.0	0.0	5008	,	,		17427	0.002		0.0	False		,,,				2504	0.0					uc003nif.3		NaN																	0				ovary(1)|skin(1)	2						c.(877-879)CTC>CTT		butyrophilin, subfamily 1, member A1 precursor							170.0	177.0	175.0					6																	26508197		2203	4300	6503	SO:0001630	splice_region_variant	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26508197C>T	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.880+1C>T	6.37:g.26508197C>T							p.L293L	NM_001732	NP_001723	Q13410	BT1A1_HUMAN			5	899	+			293			B30.2/SPRY.|Cytoplasmic (Potential).		Q4VAN3|Q4VAN4|Q9H458	Silent	SNP	ENST00000244513.6	37	c.879C>T	CCDS4614.1																																																																																				0.383	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1		NM_001732	Silent	17	91	0	0	0	0.014323	0	17	91		
NOTCH4	4855	broad.mit.edu	37	6	32164149	32164149	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:32164149G>A	ENST00000375023.3	-	29	5388	c.5250C>T	c.(5248-5250)gcC>gcT	p.A1750A	GPSM3_ENST00000375043.3_5'Flank|NOTCH4_ENST00000443903.2_Intron	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1750					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAAGCGAGCGGGCGGCTCGGG	0.632																																						uc003obb.2		NaN																	0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(5248-5250)GCC>GCT		notch4 preproprotein							116.0	132.0	126.0					6																	32164149		1509	2708	4217	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32164149G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5250C>T	6.37:g.32164149G>A						GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_Intron|NOTCH4_uc003oba.2_Silent_p.A410A|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc011dpw.1_Silent_p.A159A	p.A1750A	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			29	5389	-			1750			Cytoplasmic (Potential).|ANK 4.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.5250C>T	CCDS34420.1																																																																																				0.632	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2				36	93	0	0	0	0.01441	0	36	93		
TTBK1	84630	broad.mit.edu	37	6	43251283	43251283	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:43251283G>A	ENST00000259750.4	+	14	2888	c.2805G>A	c.(2803-2805)gaG>gaA	p.E935E		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	935					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ACATTGCGGAGAAAACCCACC	0.632																																						uc003ouq.1		NaN																	0				lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9						c.(2803-2805)GAG>GAA		tau tubulin kinase 1							78.0	71.0	73.0					6																	43251283		2203	4300	6503	SO:0001819	synonymous_variant	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43251283G>A	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2805G>A	6.37:g.43251283G>A							p.E935E	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		14	3084	+			935					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	ENST00000259750.4	37	c.2805G>A	CCDS34455.1																																																																																				0.632	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3				31	73	0	0	0	0.003755	0	31	73		
TDRD6	221400	broad.mit.edu	37	6	46660831	46660831	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:46660831G>A	ENST00000316081.6	+	1	4966	c.4966G>A	c.(4966-4968)Gaa>Aaa	p.E1656K	TDRD6_ENST00000544460.1_Missense_Mutation_p.E1656K	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1656					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CTATTTCTATGAAATAATAAC	0.363																																						uc003oyj.2		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(4966-4968)GAA>AAA		tudor domain containing 6							58.0	61.0	60.0					6																	46660831		2202	4299	6501	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660831G>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4966G>A	6.37:g.46660831G>A	ENSP00000346065:p.Glu1656Lys					TDRD6_uc010jze.2_Missense_Mutation_p.E1650K	p.E1656K	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4966	+			1656					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.4966G>A	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087050	0.76642	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.17528	2.27;2.28	5.88	5.02	0.67125	.	0.251555	0.36665	N	0.002478	T	0.17577	0.0422	L	0.58101	1.795	0.32485	N	0.540979	P;P	0.50943	0.94;0.9	P;P	0.52957	0.714;0.521	T	0.03545	-1.1026	10	0.25751	T	0.34	-16.591	17.2916	0.87158	0.0:0.1254:0.8746:0.0	.	1656;1656	F5H5M3;O60522	.;TDRD6_HUMAN	K	1656	ENSP00000443299:E1656K;ENSP00000346065:E1656K	ENSP00000346065:E1656K	E	+	1	0	TDRD6	46768790	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	4.765000	0.62271	1.503000	0.48686	-0.127000	0.14921	GAA		0.363	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1		XM_166443		12	46	0	0	0	0.001855	0	12	46		
TDRD6	221400	broad.mit.edu	37	6	46660877	46660877	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:46660877G>A	ENST00000316081.6	+	1	5012	c.5012G>A	c.(5011-5013)aGa>aAa	p.R1671K	TDRD6_ENST00000544460.1_Missense_Mutation_p.R1671K	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1671					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CTAGAAATCAGAAGGGATGTT	0.303																																						uc003oyj.2		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(5011-5013)AGA>AAA		tudor domain containing 6							46.0	49.0	48.0					6																	46660877		2203	4299	6502	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660877G>A	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5012G>A	6.37:g.46660877G>A	ENSP00000346065:p.Arg1671Lys					TDRD6_uc010jze.2_Missense_Mutation_p.R1665K	p.R1671K	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	5012	+			1671					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.5012G>A	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	2.552	-0.303911	0.05495	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.11930	2.74;2.73	5.88	0.26	0.15588	.	0.317552	0.31020	N	0.008417	T	0.00724	0.0024	N	0.00583	-1.355	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.45571	-0.9252	10	0.02654	T	1	-6.7654	10.9608	0.47385	0.5906:0.0:0.4094:0.0	.	1671;1671	F5H5M3;O60522	.;TDRD6_HUMAN	K	1671	ENSP00000443299:R1671K;ENSP00000346065:R1671K	ENSP00000346065:R1671K	R	+	2	0	TDRD6	46768836	0.001000	0.12720	0.626000	0.29213	0.990000	0.78478	-0.006000	0.12833	0.081000	0.16988	-0.290000	0.09829	AGA		0.303	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1		XM_166443		11	38	0	0	0	0.013537	0	11	38		
PKHD1	5314	broad.mit.edu	37	6	51889923	51889923	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:51889923G>A	ENST00000371117.3	-	32	4960	c.4685C>T	c.(4684-4686)tCt>tTt	p.S1562F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S1562F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1562	IPT/TIG 10.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AACATTACCAGAACAAGCATA	0.428																																						uc003pah.1		NaN																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(4684-4686)TCT>TTT		fibrocystin isoform 1							61.0	62.0	62.0					6																	51889923		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51889923G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.4685C>T	6.37:g.51889923G>A	ENSP00000360158:p.Ser1562Phe					PKHD1_uc003pai.2_Missense_Mutation_p.S1562F	p.S1562F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			32	4961	-	Lung NSC(77;0.0605)		1562			Extracellular (Potential).|IPT/TIG 10.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.4685C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.871729	0.00542	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87571	-2.08;-2.27	5.44	-10.9	0.00192	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	2.418230	0.01115	N	0.005668	T	0.45337	0.1337	N	0.11560	0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.50154	-0.8861	10	0.08179	T	0.78	.	11.294	0.49267	0.5908:0.2594:0.1499:0.0	.	1562;1562	P08F94-2;P08F94	.;PKHD1_HUMAN	F	1562	ENSP00000360158:S1562F;ENSP00000341097:S1562F	ENSP00000341097:S1562F	S	-	2	0	PKHD1	51997882	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.187000	0.16998	-3.023000	0.00269	-0.145000	0.13849	TCT		0.428	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1		NM_138694		17	31	0	0	0	0.004007	0	17	31		
ELOVL5	60481	broad.mit.edu	37	6	53138102	53138102	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:53138102G>A	ENST00000542638.1	-	6	984	c.537C>T	c.(535-537)ctC>ctT	p.L179L	ELOVL5_ENST00000304434.6_Silent_p.L179L|ELOVL5_ENST00000541407.1_Silent_p.L206L|ELOVL5_ENST00000370918.4_Silent_p.L169L|ELOVL5_ENST00000486973.1_5'Flank			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	179				YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					AAGAGTACATGAGGACGTGGA	0.473																																						uc003pbq.1		NaN																	0					0						c.(535-537)CTC>CTT		elongation of very long chain fatty acids-like							187.0	166.0	173.0					6																	53138102		2203	4300	6503	SO:0001819	synonymous_variant	60481				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:53138102G>A	AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.537C>T	6.37:g.53138102G>A						ELOVL5_uc003pbr.1_Silent_p.L179L|ELOVL5_uc011dwx.1_Silent_p.L206L|ELOVL5_uc003pbs.1_Intron|ELOVL5_uc003pbt.3_5'Flank	p.L179L	NM_021814	NP_068586	Q9NYP7	ELOV5_HUMAN			6	985	-	Lung NSC(77;0.116)		179	YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035).		Helical; (Potential).		B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Silent	SNP	ENST00000542638.1	37	c.537C>T	CCDS4951.1																																																																																				0.473	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1		NM_021814		50	101	0	0	0	0.01441	0	50	101		
SNX14	57231	broad.mit.edu	37	6	86253327	86253327	+	Silent	SNP	T	T	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:86253327T>C	ENST00000314673.3	-	13	1436	c.1260A>G	c.(1258-1260)caA>caG	p.Q420Q	SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Silent_p.Q376Q|SNX14_ENST00000369627.2_Silent_p.Q420Q|SNX14_ENST00000513865.1_Silent_p.Q420Q|SNX14_ENST00000505648.1_Silent_p.Q368Q	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	420	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ACTTACTTCTTTGAATCTCTT	0.318																																						uc003pkr.2		NaN																	0					0						c.(1258-1260)CAA>CAG		sorting nexin 14 isoform a							42.0	42.0	42.0					6																	86253327		2193	4285	6478	SO:0001819	synonymous_variant	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86253327T>C	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1260A>G	6.37:g.86253327T>C						SNX14_uc003pkp.2_Silent_p.Q283Q|SNX14_uc003pkq.2_Silent_p.Q35Q|SNX14_uc011dzg.1_Silent_p.Q368Q|SNX14_uc003pks.2_Silent_p.Q376Q|SNX14_uc003pkt.2_Silent_p.Q420Q	p.Q420Q	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	13	1453	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	420			RGS.		B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Silent	SNP	ENST00000314673.3	37	c.1260A>G	CCDS5004.1																																																																																				0.318	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2		NM_153816		3	8	0	0	0	0.004672	0	3	8		
C6orf203	51250	broad.mit.edu	37	6	107365503	107365503	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:107365503G>A	ENST00000405204.2	+	3	1117	c.510G>A	c.(508-510)ctG>ctA	p.L170L	C6orf203_ENST00000311381.5_Silent_p.L170L|C6orf203_ENST00000443043.1_Silent_p.L175L	NM_001142468.1	NP_001135940.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	170						mitochondrion (GO:0005739)				large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		AACTCAGGCTGAATGAGGAAA	0.383																																						uc003prq.2		NaN																	0					0						c.(508-510)CTG>CTA		hypothetical protein LOC51250 isoform a							134.0	132.0	133.0					6																	107365503		2203	4300	6503	SO:0001819	synonymous_variant	51250							g.chr6:107365503G>A	AF151064	CCDS5058.1	6q21	2012-02-22			ENSG00000130349	ENSG00000130349			17971	protein-coding gene	gene with protein product						11042152, 11707072	Standard	XM_005267008		Approved	HSPC230, PRED31	uc003prq.3	Q9P0P8	OTTHUMG00000015307	ENST00000405204.2:c.510G>A	6.37:g.107365503G>A						C6orf203_uc011eaj.1_Silent_p.L175L|C6orf203_uc010kde.2_Silent_p.L170L	p.L170L	NM_016487	NP_057571	Q9P0P8	CF203_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)	3	591	+	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	170					B3KRG9	Silent	SNP	ENST00000405204.2	37	c.510G>A	CCDS5058.1																																																																																				0.383	C6orf203-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041684.1		NM_016487		28	53	0	0	0	0.012213	0	28	53		
PDSS2	57107	broad.mit.edu	37	6	107780313	107780313	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:107780313G>A	ENST00000369037.4	-	1	454	c.177C>T	c.(175-177)atC>atT	p.I59I	PDSS2_ENST00000453874.2_Silent_p.I59I|PDSS2_ENST00000369031.4_Silent_p.I59I	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	59					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		GGTACCCCACGATCTTCTCCG	0.637											OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003prt.2		NaN																	0				ovary(2)	2						c.(175-177)ATC>ATT		prenyl diphosphate synthase, subunit 2							57.0	59.0	58.0					6																	107780313		2203	4300	6503	SO:0001819	synonymous_variant	57107				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity	g.chr6:107780313G>A	AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.177C>T	6.37:g.107780313G>A			OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1407	PDSS2_uc011eak.1_Intron|PDSS2_uc011eal.1_Silent_p.I59I|PDSS2_uc003pru.2_Silent_p.I59I|PDSS2_uc003prv.2_Silent_p.I59I	p.I59I	NM_020381	NP_065114	Q86YH6	DLP1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)	1	467	-	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	59					Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Silent	SNP	ENST00000369037.4	37	c.177C>T	CCDS5059.1																																																																																				0.637	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131954.1		NM_020381		6	38	0	0	0	0.001984	0	6	38		
MICAL1	64780	broad.mit.edu	37	6	109768352	109768352	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:109768352G>C	ENST00000358807.3	-	17	2462	c.2151C>G	c.(2149-2151)ttC>ttG	p.F717L	MICAL1_ENST00000358577.3_Missense_Mutation_p.F631L|MICAL1_ENST00000368952.4_Missense_Mutation_p.F736L	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	717	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AGCTCCGGTGGAAGAAATGGC	0.627																																						uc003ptj.2		NaN																	0				breast(2)|ovary(1)	3						c.(2149-2151)TTC>TTG		microtubule associated monoxygenase, calponin							97.0	100.0	99.0					6																	109768352		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109768352G>C	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2151C>G	6.37:g.109768352G>C	ENSP00000351664:p.Phe717Leu					MICAL1_uc003ptk.2_Missense_Mutation_p.F717L|MICAL1_uc010kdr.2_Missense_Mutation_p.F631L|MICAL1_uc011eaq.1_Missense_Mutation_p.F736L	p.F717L	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	16	2405	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	717			LIM zinc-binding.		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.2151C>G	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489387	0.84962	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957	D;D;D	0.88975	-2.45;-2.45;-2.45	5.89	3.06	0.35304	Zinc finger, LIM-type (5);	0.061281	0.64402	D	0.000004	D	0.89403	0.6705	M	0.82323	2.585	0.37799	D	0.927636	P;P;P	0.50156	0.932;0.837;0.865	P;B;P	0.59056	0.851;0.355;0.487	D	0.86656	0.1901	10	0.32370	T	0.25	.	8.2596	0.31777	0.2577:0.0:0.7423:0.0	.	736;631;717	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	L	717;736;631;241	ENSP00000351664:F717L;ENSP00000357948:F736L;ENSP00000351385:F631L	ENSP00000351385:F631L	F	-	3	2	MICAL1	109875045	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.240000	0.51368	0.344000	0.23847	0.655000	0.94253	TTC		0.627	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2		NM_022765		30	66	0	0	0	0.015359	0	30	66		
MED23	9439	broad.mit.edu	37	6	131908944	131908944	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:131908944G>A	ENST00000368068.3	-	29	4161	c.3982C>T	c.(3982-3984)Cgt>Tgt	p.R1328C	MED23_ENST00000354577.4_Missense_Mutation_p.R1334C|MED23_ENST00000368060.3_Missense_Mutation_p.R1328C|MED23_ENST00000403834.3_Missense_Mutation_p.R1334C|MED23_ENST00000368058.1_Missense_Mutation_p.R1334C|MED23_ENST00000545957.1_Missense_Mutation_p.R969C|MED23_ENST00000479213.1_5'UTR	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1328					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AATCGAAGACGAAGTTTTAAA	0.403																																						uc003qcs.1		NaN																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(3982-3984)CGT>TGT		mediator complex subunit 23 isoform a							104.0	95.0	98.0					6																	131908944		2203	4300	6503	SO:0001583	missense	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131908944G>A	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3982C>T	6.37:g.131908944G>A	ENSP00000357047:p.Arg1328Cys					MED23_uc003qcq.2_Missense_Mutation_p.R1334C|MED23_uc003qcr.1_Missense_Mutation_p.R183C	p.R1328C	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	29	4156	-	Breast(56;0.0753)		1328					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	ENST00000368068.3	37	c.3982C>T	CCDS5147.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180431	0.78677	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	.	.	.	5.91	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.981;0.992	T	0.65651	-0.6116	9	0.87932	D	0	-19.9934	17.4858	0.87688	0.0:0.0:0.808:0.192	.	1328;1334	Q9ULK4;Q9ULK4-3	MED23_HUMAN;.	C	1334;1328;1334;1328;1334;969	.	ENSP00000346588:R1334C	R	-	1	0	MED23	131950637	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.888000	0.69758	2.813000	0.96785	0.655000	0.94253	CGT		0.403	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1				3	20	0	0	0	0.004672	0	3	20		
PPIL4	85313	broad.mit.edu	37	6	149854672	149854672	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:149854672G>C	ENST00000253329.2	-	7	632	c.600C>G	c.(598-600)ttC>ttG	p.F200L		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	200					protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		ATCTTCCTTTGAAATCATCAA	0.323																																						uc003qmo.1		NaN																	0					0						c.(598-600)TTC>TTG		peptidylprolyl isomerase-like 4							127.0	116.0	120.0					6																	149854672		2201	4300	6501	SO:0001583	missense	85313				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	g.chr6:149854672G>C		CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.600C>G	6.37:g.149854672G>C	ENSP00000253329:p.Phe200Leu					PPIL4_uc010kic.2_Intron|PPIL4_uc003qmp.1_Missense_Mutation_p.F200L	p.F200L	NM_139126	NP_624311	Q8WUA2	PPIL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)	7	630	-		Ovarian(120;0.0164)	200					B2RD34|Q7Z3Q5	Missense_Mutation	SNP	ENST00000253329.2	37	c.600C>G	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	G	7.377	0.628076	0.14257	.	.	ENSG00000131013	ENST00000253329	T	0.12255	2.7	5.93	1.95	0.26073	.	0.355816	0.34802	N	0.003666	T	0.02083	0.0065	N	0.12569	0.235	0.80722	D	1	B;B	0.15930	0.0;0.015	B;B	0.11329	0.001;0.006	T	0.43212	-0.9405	10	0.25751	T	0.34	.	6.5306	0.22324	0.3065:0.1263:0.5671:0.0	.	200;200	B3KRR4;Q8WUA2	.;PPIL4_HUMAN	L	200	ENSP00000253329:F200L	ENSP00000253329:F200L	F	-	3	2	PPIL4	149896365	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	0.575000	0.23729	0.055000	0.16094	-0.145000	0.13849	TTC		0.323	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1				11	22	0	0	0	0.001855	0	11	22		
ZDHHC14	79683	broad.mit.edu	37	6	157803263	157803263	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:157803263C>T	ENST00000359775.5	+	1	1099	c.210C>T	c.(208-210)ctC>ctT	p.L70L	ZDHHC14_ENST00000414563.2_Silent_p.L70L			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	70					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CGCTCGTCCTCATCCTGGTCA	0.627																																						uc003qqt.2		NaN																	0				ovary(1)|skin(1)	2						c.(208-210)CTC>CTT		zinc finger, DHHC-type containing 14 isoform 1							47.0	53.0	51.0					6																	157803263		2203	4296	6499	SO:0001819	synonymous_variant	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:157803263C>T	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"""Zinc fingers, DHHC-type"""	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.210C>T	6.37:g.157803263C>T						ZDHHC14_uc003qqs.2_Silent_p.L70L	p.L70L	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	1	707	+		Breast(66;0.00586)|Ovarian(120;0.123)	70			Helical; (Potential).		A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Silent	SNP	ENST00000359775.5	37	c.210C>T	CCDS5252.1																																																																																				0.627	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2		NM_153746		12	59	0	0	0	0.001855	0	12	59		
ZDHHC14	79683	broad.mit.edu	37	6	157963684	157963684	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:157963684G>T	ENST00000359775.5	+	2	1202	c.313G>T	c.(313-315)Gtg>Ttg	p.V105L	ZDHHC14_ENST00000414563.2_Missense_Mutation_p.V105L			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	105					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GTTCTTCTTTGTGATGGGGAC	0.607																																						uc003qqt.2		NaN																	0				ovary(1)|skin(1)	2						c.(313-315)GTG>TTG		zinc finger, DHHC-type containing 14 isoform 1							62.0	62.0	62.0					6																	157963684		2203	4296	6499	SO:0001583	missense	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:157963684G>T	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"""Zinc fingers, DHHC-type"""	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.313G>T	6.37:g.157963684G>T	ENSP00000352821:p.Val105Leu					ZDHHC14_uc003qqs.2_Missense_Mutation_p.V105L|ZDHHC14_uc010kjm.1_5'UTR	p.V105L	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	2	810	+		Breast(66;0.00586)|Ovarian(120;0.123)	105			Helical; (Potential).		A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Missense_Mutation	SNP	ENST00000359775.5	37	c.313G>T	CCDS5252.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398577	0.96030	.	.	ENSG00000175048	ENST00000359775;ENST00000414563;ENST00000538483	T;T	0.49139	0.81;0.79	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000001	T	0.65312	0.2679	M	0.85197	2.74	0.80722	D	1	D;D	0.65815	0.995;0.968	D;P	0.63283	0.913;0.852	T	0.72547	-0.4260	10	0.56958	D	0.05	-17.9154	18.6435	0.91402	0.0:0.0:1.0:0.0	.	105;105	Q8IZN3;Q8IZN3-2	ZDH14_HUMAN;.	L	105;105;109	ENSP00000352821:V105L;ENSP00000410713:V105L	ENSP00000352821:V105L	V	+	1	0	ZDHHC14	157883672	1.000000	0.71417	0.978000	0.43139	0.996000	0.88848	9.235000	0.95353	1.928000	0.55862	0.533000	0.62120	GTG		0.607	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2		NM_153746		25	50	1	0	7.53681e-25	0.00632	8.12234e-25	25	50		
TULP4	56995	broad.mit.edu	37	6	158924831	158924831	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:158924831G>A	ENST00000367097.3	+	13	5493	c.4136G>A	c.(4135-4137)aGa>aAa	p.R1379K	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1379					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CACCTGGGGAGAGAGAAGAAG	0.493																																						uc003qrf.2		NaN																	0				ovary(1)	1						c.(4135-4137)AGA>AAA		tubby like protein 4 isoform 1							55.0	57.0	57.0					6																	158924831		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158924831G>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.4136G>A	6.37:g.158924831G>A	ENSP00000356064:p.Arg1379Lys					TULP4_uc003qrg.2_Intron	p.R1379K	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	5493	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	1379					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.4136G>A	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423020	0.83559	.	.	ENSG00000130338	ENST00000367097	T	0.72051	-0.62	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.81039	0.4740	M	0.65498	2.005	0.80722	D	1	D	0.65815	0.995	D	0.73380	0.98	T	0.79152	-0.1921	10	0.48119	T	0.1	-20.4788	20.093	0.97828	0.0:0.0:1.0:0.0	.	1379	Q9NRJ4	TULP4_HUMAN	K	1379	ENSP00000356064:R1379K	ENSP00000356064:R1379K	R	+	2	0	TULP4	158844819	1.000000	0.71417	0.916000	0.36221	0.917000	0.54804	9.263000	0.95617	2.756000	0.94617	0.561000	0.74099	AGA		0.493	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1		NM_020245		15	15	0	0	0	0.004007	0	15	15		
UNC93A	54346	broad.mit.edu	37	6	167709658	167709658	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:167709658G>A	ENST00000230256.3	+	3	583	c.408G>A	c.(406-408)caG>caA	p.Q136Q	UNC93A_ENST00000366829.2_Silent_p.Q136Q|UNC93A_ENST00000366830.2_3'UTR	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGGTGAACCAGTATTTTGGCA	0.537																																						uc003qvq.2		NaN																	0					0						c.(406-408)CAG>CAA		unc-93 homolog A isoform 1							255.0	231.0	239.0					6																	167709658		2203	4300	6503	SO:0001819	synonymous_variant	54346					integral to membrane|plasma membrane		g.chr6:167709658G>A	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.408G>A	6.37:g.167709658G>A						UNC93A_uc003qvr.2_Silent_p.Q136Q	p.Q136Q	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	583	+		Breast(66;7.62e-05)|Ovarian(120;0.105)	136					B3KRP5|Q4QQJ4|Q5JZD6	Silent	SNP	ENST00000230256.3	37	c.408G>A	CCDS5300.1																																																																																				0.537	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2		NM_018974		28	116	0	0	0	0.015359	0	28	116		
DLL1	28514	broad.mit.edu	37	6	170592977	170592977	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:170592977C>T	ENST00000366756.3	-	9	1723	c.1390G>A	c.(1390-1392)Gac>Aac	p.D464N		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	464	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CAGGAGAAGTCGTTCACGCCA	0.697																																						uc003qxm.2		NaN																	0				lung(4)|ovary(1)	5						c.(1390-1392)GAC>AAC		delta-like 1 precursor							18.0	19.0	19.0					6																	170592977		2200	4298	6498	SO:0001583	missense	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170592977C>T	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1390G>A	6.37:g.170592977C>T	ENSP00000355718:p.Asp464Asn						p.D464N	NM_005618	NP_005609	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	9	1860	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	464			Extracellular (Potential).|EGF-like 7; calcium-binding (Potential).		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	ENST00000366756.3	37	c.1390G>A	CCDS5313.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684136	0.47991	.	.	ENSG00000198719	ENST00000366756	D	0.91843	-2.92	5.56	5.56	0.83823	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.240867	0.48767	D	0.000161	D	0.83083	0.5177	N	0.16862	0.45	0.58432	D	0.999993	P	0.39964	0.697	B	0.38562	0.276	D	0.85517	0.1201	10	0.48119	T	0.1	.	19.5373	0.95257	0.0:1.0:0.0:0.0	.	464	O00548	DLL1_HUMAN	N	464	ENSP00000355718:D464N	ENSP00000355718:D464N	D	-	1	0	DLL1	170434902	1.000000	0.71417	0.026000	0.17262	0.015000	0.08874	7.755000	0.85180	2.629000	0.89072	0.655000	0.94253	GAC		0.697	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1				6	11	0	0	0	0.00308	0	6	11		
RNF216	54476	broad.mit.edu	37	7	5752476	5752476	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:5752476C>G	ENST00000425013.2	-	12	1905	c.1681G>C	c.(1681-1683)Gaa>Caa	p.E561Q	RNF216_ENST00000389902.3_Missense_Mutation_p.E618Q	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	561					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CAGCTGCCTTCCATGCAGCTG	0.443																																						uc003soy.1		NaN																	0				ovary(3)|breast(2)	5						c.(1681-1683)GAA>CAA		ring finger protein 216 isoform b							39.0	37.0	37.0					7																	5752476		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding	g.chr7:5752476C>G	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.1681G>C	7.37:g.5752476C>G	ENSP00000404602:p.Glu561Gln					RNF216_uc010ksz.1_Missense_Mutation_p.E183Q|RNF216_uc010kta.1_Missense_Mutation_p.E183Q|RNF216_uc011jwj.1_Missense_Mutation_p.E183Q|RNF216_uc003sox.1_Missense_Mutation_p.E618Q	p.E561Q	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	12	1871	-		Ovarian(82;0.07)	561			RING-type 1.		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.1681G>C	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540993	0.85917	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.29142	1.58;1.58	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.42291	0.1196	N	0.17278	0.47	0.58432	D	0.999994	D;D	0.89917	0.987;1.0	P;D	0.79108	0.793;0.992	T	0.35919	-0.9769	10	0.49607	T	0.09	-19.3381	19.0838	0.93194	0.0:1.0:0.0:0.0	.	561;618	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	Q	561;618;373	ENSP00000404602:E561Q;ENSP00000374552:E618Q	ENSP00000374552:E618Q	E	-	1	0	RNF216	5719002	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.997000	0.76270	2.746000	0.94184	0.650000	0.86243	GAA		0.443	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1		NM_207111		17	15	0	0	0	0.007413	0	17	15		
DAGLB	221955	broad.mit.edu	37	7	6472552	6472552	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:6472552G>A	ENST00000297056.6	-	5	886	c.717C>T	c.(715-717)ctC>ctT	p.L239L	DAGLB_ENST00000479922.2_5'Flank|DAGLB_ENST00000425398.2_Missense_Mutation_p.S153L|DAGLB_ENST00000421761.2_Missense_Mutation_p.S26L|DAGLB_ENST00000428902.2_Silent_p.L112L|DAGLB_ENST00000436575.1_Silent_p.L198L	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	239					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GAAGCAGGGCGAGGCCCGCCG	0.607																																						uc003sqa.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(715-717)CTC>CTT		diacylglycerol lipase, beta isoform 1							56.0	56.0	56.0					7																	6472552		2203	4300	6503	SO:0001819	synonymous_variant	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6472552G>A	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.717C>T	7.37:g.6472552G>A						DAGLB_uc011jwt.1_Silent_p.L53L|DAGLB_uc011jwu.1_Missense_Mutation_p.S153L|DAGLB_uc003sqb.2_5'UTR|DAGLB_uc003sqc.2_Intron|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Silent_p.L198L|DAGLB_uc011jww.1_RNA	p.L239L	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	5	887	-		Ovarian(82;0.232)	239			Cytoplasmic (Potential).		A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Silent	SNP	ENST00000297056.6	37	c.717C>T	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104028	0.56291	.	.	ENSG00000164535	ENST00000425398;ENST00000421761	T	0.42513	0.97	5.46	-5.95	0.02241	.	.	.	.	.	T	0.18676	0.0448	.	.	.	0.23727	N	0.997007	B	0.11235	0.004	B	0.04013	0.001	T	0.21690	-1.0238	7	.	.	.	-10.869	4.0074	0.09607	0.2989:0.3381:0.2869:0.0761	.	153	B4DQU0	.	L	153;26	ENSP00000391171:S153L	.	S	-	2	0	DAGLB	6439077	0.474000	0.25886	0.135000	0.22099	0.754000	0.42855	-0.104000	0.10923	-0.751000	0.04734	-0.302000	0.09304	TCG		0.607	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2		NM_139179		33	38	0	0	0	0.003755	0	33	38		
HOXA3	3200	broad.mit.edu	37	7	27147998	27147998	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:27147998C>T	ENST00000396352.4	-	3	1067	c.868G>A	c.(868-870)Gag>Aag	p.E290K	HOXA3_ENST00000317201.2_Missense_Mutation_p.E290K|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	290					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GACTGGGGCTCATACGGGACG	0.701																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	uc011jzl.1		NaN																	0				breast(2)	2						c.(868-870)GAG>AAG		homeobox A3 isoform a							42.0	47.0	46.0					7																	27147998		2203	4299	6502	SO:0001583	missense	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27147998C>T		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.868G>A	7.37:g.27147998C>T	ENSP00000379640:p.Glu290Lys					HOXA3_uc011jzk.1_Missense_Mutation_p.E132K|HOXA3_uc003syk.2_Missense_Mutation_p.E290K	p.E290K	NM_030661	NP_109377	O43365	HXA3_HUMAN			3	1068	-			290					A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	c.868G>A	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949127	0.73787	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.85861	-2.04;-2.04	5.41	5.41	0.78517	.	0.046850	0.85682	D	0.000000	D	0.87669	0.6235	M	0.67397	2.05	0.80722	D	1	D	0.57257	0.979	P	0.47528	0.549	D	0.89356	0.3664	10	0.87932	D	0	.	19.215	0.93772	0.0:1.0:0.0:0.0	.	290	O43365	HXA3_HUMAN	K	290;290;132	ENSP00000379640:E290K;ENSP00000324884:E290K	ENSP00000324884:E290K	E	-	1	0	HOXA3	27114523	1.000000	0.71417	0.956000	0.39512	0.961000	0.63080	5.666000	0.68059	2.539000	0.85634	0.655000	0.94253	GAG		0.701	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2				7	57	0	0	0	0.004482	0	7	57		
ADCYAP1R1	117	broad.mit.edu	37	7	31121345	31121345	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:31121345G>A	ENST00000304166.4	+	6	593	c.304G>A	c.(304-306)Gac>Aac	p.D102N	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.D102N|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.D102N|ADCYAP1R1_ENST00000409363.1_Intron	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	102					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGATTTTGGTGACAGTAACTC	0.493																																					Ovarian(44;225 1186 2158 11092)	uc003tca.1		NaN																	0				ovary(1)	1						c.(304-306)GAC>AAC		adenylate cyclase activating polypeptide 1							158.0	141.0	147.0					7																	31121345		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31121345G>A		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.304G>A	7.37:g.31121345G>A	ENSP00000306620:p.Asp102Asn					ADCYAP1R1_uc003tcb.1_Intron|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.D102N|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.D102N|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.D102N	p.D102N	NM_001118	NP_001109	P41586	PACR_HUMAN			6	527	+			102			Extracellular (Potential).		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.304G>A	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007317	0.35415	.	.	ENSG00000078549	ENST00000304166;ENST00000396211;ENST00000409489	T;T;T	0.48201	1.16;0.82;0.82	4.7	4.7	0.59300	GPCR, family 2, extracellular hormone receptor domain (3);	0.468895	0.22212	N	0.063095	T	0.42131	0.1189	L	0.46157	1.445	0.09310	N	0.999999	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.10450	0.005;0.004;0.002;0.002	T	0.31971	-0.9924	10	0.46703	T	0.11	.	13.3454	0.60571	0.0:0.0:1.0:0.0	.	102;102;102;102	B7ZLA7;Q17S10;E9PFU5;P41586	.;.;.;PACR_HUMAN	N	102	ENSP00000306620:D102N;ENSP00000379514:D102N;ENSP00000386395:D102N	ENSP00000306620:D102N	D	+	1	0	ADCYAP1R1	31087870	0.905000	0.30787	0.082000	0.20525	0.981000	0.71138	2.685000	0.46959	2.595000	0.87683	0.655000	0.94253	GAC		0.493	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3		NM_001118		33	138	0	0	0	0.006999	0	33	138		
FKBP9	11328	broad.mit.edu	37	7	33044890	33044890	+	Missense_Mutation	SNP	G	G	A	rs577922815	byFrequency	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:33044890G>A	ENST00000242209.4	+	10	1809	c.1640G>A	c.(1639-1641)cGg>cAg	p.R547Q	FKBP9_ENST00000538336.1_Missense_Mutation_p.R600Q|FKBP9_ENST00000538443.1_Missense_Mutation_p.R409Q|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Missense_Mutation_p.R315Q	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	547	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			AACCAGGACCGGAATGGAGAT	0.502																																						uc003tdh.2		NaN																	0				central_nervous_system(13)|ovary(1)	14						c.(1639-1641)CGG>CAG		FK506 binding protein 9 precursor							165.0	123.0	137.0					7																	33044890		2203	4300	6503	SO:0001583	missense	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33044890G>A	AF089745	CCDS5439.1, CCDS64622.1, CCDS64623.1	7p11.1	2013-01-10	2002-08-29		ENSG00000122642	ENSG00000122642		"""EF-hand domain containing"""	3725	protein-coding gene	gene with protein product			"""FK506-binding protein 9 (63 kD)"""			12036304	Standard	NM_007270		Approved	FKBP60, FKBP63	uc003tdh.3	O95302	OTTHUMG00000097847	ENST00000242209.4:c.1640G>A	7.37:g.33044890G>A	ENSP00000242209:p.Arg547Gln					AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Missense_Mutation_p.R600Q|FKBP9_uc011kam.1_Missense_Mutation_p.R315Q	p.R547Q	NM_007270	NP_009201	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		10	1821	+			547			EF-hand 2.|2 (Potential).		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Missense_Mutation	SNP	ENST00000242209.4	37	c.1640G>A	CCDS5439.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730362	0.89390	.	.	ENSG00000122642	ENST00000242209;ENST00000538336;ENST00000538443;ENST00000490776	T;T;T;T	0.54866	0.55;0.55;0.55;0.95	5.07	5.07	0.68467	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71324	0.3326	M	0.64170	1.965	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.978;0.996;0.947	T	0.74429	-0.3668	10	0.72032	D	0.01	-0.2712	18.4683	0.90763	0.0:0.0:1.0:0.0	.	315;600;547	B7Z1G9;B7Z6H3;O95302	.;.;FKBP9_HUMAN	Q	547;600;409;315	ENSP00000242209:R547Q;ENSP00000439250:R600Q;ENSP00000437504:R409Q;ENSP00000441317:R315Q	ENSP00000242209:R547Q	R	+	2	0	FKBP9	33011415	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.897000	0.87356	2.371000	0.80710	0.555000	0.69702	CGG		0.502	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1		NM_007270		15	78	0	0	0	0.010504	0	15	78		
GLI3	2737	broad.mit.edu	37	7	42007389	42007389	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:42007389C>T	ENST00000395925.3	-	14	2320	c.2236G>A	c.(2236-2238)Gaa>Aaa	p.E746K	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	746					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATTGGGGTTTCATCGATGGCA	0.532									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1		NaN																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(2236-2238)GAA>AAA		GLI-Kruppel family member GLI3							217.0	198.0	204.0					7																	42007389		2203	4300	6503	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42007389C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2236G>A	7.37:g.42007389C>T	ENSP00000379258:p.Glu746Lys					GLI3_uc011kbg.1_Missense_Mutation_p.E687K	p.E746K	NM_000168	NP_000159	P10071	GLI3_HUMAN			14	2327	-			746					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.2236G>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626845	0.87560	.	.	ENSG00000106571	ENST00000395925	T	0.15139	2.45	5.58	5.58	0.84498	.	0.209202	0.49305	D	0.000143	T	0.30603	0.0770	M	0.75264	2.295	0.80722	D	1	P	0.47253	0.892	P	0.44732	0.459	T	0.09357	-1.0678	10	0.72032	D	0.01	.	19.5736	0.95432	0.0:1.0:0.0:0.0	.	746	P10071	GLI3_HUMAN	K	746	ENSP00000379258:E746K	ENSP00000379258:E746K	E	-	1	0	GLI3	41973914	1.000000	0.71417	0.961000	0.40146	0.852000	0.48524	6.518000	0.73764	2.636000	0.89361	0.655000	0.94253	GAA		0.532	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3		NM_000168		25	114	0	0	0	0.005443	0	25	114		
COA1	55744	broad.mit.edu	37	7	43679188	43679188	+	Missense_Mutation	SNP	T	T	C	rs537301566		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:43679188T>C	ENST00000395879.1	-	5	2115	c.434A>G	c.(433-435)aAg>aGg	p.K145R	COA1_ENST00000223336.6_Missense_Mutation_p.K145R|COA1_ENST00000310564.6_Missense_Mutation_p.K145R|COA1_ENST00000395880.3_Missense_Mutation_p.K145R|COA1_ENST00000488813.1_5'UTR			Q9GZY4	COA1_HUMAN	cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)	145					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)	cytoplasm (GO:0005737)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrion (GO:0005739)											TCTCTACTCCTTTTTCACTTC	0.517																																						uc003tin.1		NaN																	0				ovary(1)	1						c.(433-435)AAG>AGG		hypothetical protein LOC55744							169.0	175.0	173.0					7																	43679188		2203	4300	6503	SO:0001583	missense	55744					integral to membrane		g.chr7:43679188T>C	AK001665	CCDS5471.1	7p13	2012-12-05	2012-10-15	2012-06-25	ENSG00000106603	ENSG00000106603		"""Mitochondrial respiratory chain complex assembly factors"""	21868	protein-coding gene	gene with protein product		614769	"""chromosome 7 open reading frame 44"""	C7orf44		22356826	Standard	NM_018224		Approved	FLJ10803, MITRAC15	uc003tin.2	Q9GZY4	OTTHUMG00000128949	ENST00000395879.1:c.434A>G	7.37:g.43679188T>C	ENSP00000379218:p.Lys145Arg					C7orf44_uc003til.2_RNA|C7orf44_uc003tii.2_RNA|C7orf44_uc003tij.2_RNA|C7orf44_uc010kxu.1_RNA|C7orf44_uc003tik.2_RNA|C7orf44_uc003tim.1_RNA|C7orf44_uc003tio.1_Missense_Mutation_p.K145R|C7orf44_uc003tiq.1_Missense_Mutation_p.K145R|C7orf44_uc003tip.1_Missense_Mutation_p.K145R	p.K145R	NM_018224	NP_060694	Q9GZY4	CG044_HUMAN			6	528	-			145					A6NJU8|A8KAH8|Q9HAB7|Q9NVD2	Missense_Mutation	SNP	ENST00000395879.1	37	c.434A>G	CCDS5471.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.295640	0.23564	.	.	ENSG00000106603	ENST00000395879;ENST00000310564;ENST00000395880;ENST00000223336	.	.	.	3.36	-0.562	0.11781	.	1.528020	0.03663	N	0.242820	T	0.26593	0.0650	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.19321	-1.0309	9	0.49607	T	0.09	0.2435	2.7004	0.05146	0.4087:0.1199:0.0:0.4714	.	145	Q9GZY4	CG044_HUMAN	R	145	.	ENSP00000223336:K145R	K	-	2	0	C7orf44	43645713	0.000000	0.05858	0.005000	0.12908	0.073000	0.16967	-0.710000	0.05024	-0.096000	0.12329	0.533000	0.62120	AAG		0.517	COA1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313664.1		NM_018224		3	135	0	0	0	0.004672	0	3	135		
PURB	5814	broad.mit.edu	37	7	44924792	44924792	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:44924792C>G	ENST00000395699.2	-	1	168	c.156G>C	c.(154-156)caG>caC	p.Q52H	RP4-673M15.1_ENST00000608450.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	52					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						CCTTGGCGTTCTGCTTCACAT	0.672																																						uc003tme.2		NaN																	0					0						c.(154-156)CAG>CAC		purine-rich element binding protein B							25.0	25.0	25.0					7																	44924792		2203	4300	6503	SO:0001583	missense	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924792C>G		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.156G>C	7.37:g.44924792C>G	ENSP00000379051:p.Gln52His						p.Q52H	NM_033224	NP_150093	Q96QR8	PURB_HUMAN			1	169	-			52			By similarity.		A4D2L7	Missense_Mutation	SNP	ENST00000395699.2	37	c.156G>C	CCDS5499.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699881	0.30142	.	.	ENSG00000146676	ENST00000395699	T	0.36157	1.27	3.1	0.0258	0.14147	.	0.000000	0.64402	U	0.000003	T	0.38374	0.1038	M	0.86651	2.83	0.58432	D	0.999998	B	0.19935	0.04	B	0.22386	0.039	T	0.21793	-1.0235	10	0.72032	D	0.01	.	5.2733	0.15636	0.3374:0.5553:0.0:0.1073	.	52	Q96QR8	PURB_HUMAN	H	52	ENSP00000379051:Q52H	ENSP00000379051:Q52H	Q	-	3	2	PURB	44891317	1.000000	0.71417	0.994000	0.49952	0.774000	0.43823	2.072000	0.41510	-0.106000	0.12110	0.449000	0.29647	CAG		0.672	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2		NM_033224		5	26	0	0	0	0.014758	0	5	26		
ABCA13	154664	broad.mit.edu	37	7	48391850	48391850	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:48391850C>T	ENST00000435803.1	+	31	10478	c.10454C>T	c.(10453-10455)tCa>tTa	p.S3485L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3485					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCCCATGTCTCATACACAATC	0.443																																						uc003toq.2		NaN																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(10453-10455)TCA>TTA		ATP binding cassette, sub-family A (ABC1),							125.0	125.0	125.0					7																	48391850		2011	4188	6199	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48391850C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10454C>T	7.37:g.48391850C>T	ENSP00000411096:p.Ser3485Leu					ABCA13_uc010kys.1_Missense_Mutation_p.S559L|ABCA13_uc003tos.1_Missense_Mutation_p.S311L	p.S3485L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			31	10479	+			3485					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.10454C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	7.701	0.693017	0.15039	.	.	ENSG00000179869	ENST00000435803	D	0.95342	-3.68	4.91	3.89	0.44902	.	0.551536	0.15582	N	0.254886	D	0.88584	0.6476	L	0.27053	0.805	0.09310	N	1	B;B	0.30236	0.274;0.059	B;B	0.26416	0.069;0.061	T	0.82378	-0.0487	10	0.66056	D	0.02	.	8.4999	0.33152	0.0:0.8511:0.0:0.1489	.	1187;3485	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	L	3485	ENSP00000411096:S3485L	ENSP00000411096:S3485L	S	+	2	0	ABCA13	48362396	0.016000	0.18221	0.751000	0.31187	0.036000	0.12997	1.530000	0.36007	2.264000	0.75181	0.561000	0.74099	TCA		0.443	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701		35	144	0	0	0	0.00874	0	35	144		
KIAA1324L	222223	broad.mit.edu	37	7	86569360	86569360	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:86569360G>C	ENST00000450689.2	-	6	998	c.813C>G	c.(811-813)gtC>gtG	p.V271V	KIAA1324L_ENST00000297222.6_Silent_p.V31V|KIAA1324L_ENST00000416314.1_Silent_p.V104V|KIAA1324L_ENST00000444627.1_Silent_p.V271V	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	271						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GCACAGGCTTGACCGCCTTAG	0.368																																						uc011kha.1		NaN																	0				ovary(6)|skin(1)	7						c.(811-813)GTC>GTG		hypothetical protein LOC222223 isoform 1							152.0	139.0	144.0					7																	86569360		2203	4300	6503	SO:0001819	synonymous_variant	222223					integral to membrane		g.chr7:86569360G>C	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.813C>G	7.37:g.86569360G>C						KIAA1324L_uc003uif.1_Silent_p.V31V|KIAA1324L_uc011kgz.1_Silent_p.V157V|KIAA1324L_uc003uie.2_Silent_p.V104V	p.V271V	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN			6	998	-	Esophageal squamous(14;0.0058)		271			Extracellular (Potential).		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Silent	SNP	ENST00000450689.2	37	c.813C>G	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	G	6.674	0.492842	0.12702	.	.	ENSG00000164659	ENST00000423294	.	.	.	5.9	2.98	0.34508	.	.	.	.	.	T	0.58509	0.2127	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53599	-0.8416	4	.	.	.	.	9.1307	0.36843	0.0:0.4343:0.3342:0.2315	.	.	.	.	E	232	.	.	Q	-	1	0	KIAA1324L	86407296	1.000000	0.71417	0.997000	0.53966	0.641000	0.38312	1.070000	0.30653	0.806000	0.34183	-0.172000	0.13284	CAA		0.368	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3		NM_152748		18	77	0	0	0	0.012319	0	18	77		
ADAM22	53616	broad.mit.edu	37	7	87563851	87563851	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:87563851G>A	ENST00000265727.7	+	1	150	c.71G>A	c.(70-72)cGc>cAc	p.R24H	ADAM22_ENST00000439864.1_Missense_Mutation_p.R24H|ADAM22_ENST00000398209.3_Missense_Mutation_p.R24H|ADAM22_ENST00000398201.4_Missense_Mutation_p.R24H|ADAM22_ENST00000315984.7_Missense_Mutation_p.R24H|ADAM22_ENST00000398204.4_Missense_Mutation_p.R24H			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	24					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CCTCCGGCGCGCTGCGGCCAG	0.647																																						uc003ujn.2		NaN																	0				ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(70-72)CGC>CAC		ADAM metallopeptidase domain 22 isoform 1							15.0	21.0	19.0					7																	87563851		2083	4204	6287	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87563851G>A	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.71G>A	7.37:g.87563851G>A	ENSP00000265727:p.Arg24His					ADAM22_uc003uji.1_Missense_Mutation_p.R24H|ADAM22_uc003ujj.1_Missense_Mutation_p.R24H|ADAM22_uc003ujk.1_Missense_Mutation_p.R24H|ADAM22_uc003ujl.1_Missense_Mutation_p.R24H|ADAM22_uc003ujm.2_Missense_Mutation_p.R24H|ADAM22_uc003ujo.2_Missense_Mutation_p.R24H|ADAM22_uc003ujp.1_5'Flank	p.R24H	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		1	150	+	Esophageal squamous(14;0.00202)		24					O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.71G>A	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838344	0.32513	.	.	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000412441;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209	T;T;T;T;T;T;T	0.18810	4.41;3.6;2.19;4.41;4.41;4.42;4.41	4.45	2.45	0.29901	.	0.690791	0.12874	N	0.432034	T	0.16896	0.0406	N	0.24115	0.695	0.22866	N	0.998635	D;D;D;B;B	0.61697	0.99;0.987;0.964;0.012;0.001	P;B;B;B;B	0.47744	0.556;0.431;0.299;0.002;0.0	T	0.10268	-1.0637	10	0.30078	T	0.28	.	8.978	0.35948	0.0:0.0:0.5958:0.4042	.	24;24;24;24;24	Q9P0K1-5;Q9P0K1;Q9P0K1-2;E7EPF1;D6W5P7	.;ADA22_HUMAN;.;.;.	H	24	ENSP00000381262:R24H;ENSP00000391334:R24H;ENSP00000413899:R24H;ENSP00000381260:R24H;ENSP00000265727:R24H;ENSP00000315900:R24H;ENSP00000381267:R24H	ENSP00000265727:R24H	R	+	2	0	ADAM22	87401787	0.227000	0.23707	1.000000	0.80357	0.998000	0.95712	0.584000	0.23864	1.204000	0.43247	0.655000	0.94253	CGC		0.647	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2		NM_021723		3	16	0	0	0	0.009096	0	3	16		
ANKIB1	54467	broad.mit.edu	37	7	92027682	92027682	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:92027682G>C	ENST00000265742.3	+	20	3065	c.2689G>C	c.(2689-2691)Gac>Cac	p.D897H		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	897							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTCCAGGCTGGACTCTGTCCC	0.507																																						uc003ulw.2		NaN																	0				lung(1)	1						c.(2689-2691)GAC>CAC		ankyrin repeat and IBR domain containing 1							66.0	64.0	65.0					7																	92027682		1906	4132	6038	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92027682G>C	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2689G>C	7.37:g.92027682G>C	ENSP00000265742:p.Asp897His					ANKIB1_uc010lew.1_Missense_Mutation_p.D166H	p.D897H	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	3065	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		897					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.2689G>C	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834301	0.50951	.	.	ENSG00000001629	ENST00000265742	T	0.13657	2.57	5.87	4.98	0.66077	.	0.190755	0.56097	N	0.000031	T	0.13970	0.0338	L	0.29908	0.895	0.80722	D	1	B;B	0.27140	0.169;0.001	B;B	0.28553	0.091;0.002	T	0.03945	-1.0990	10	0.87932	D	0	.	17.5359	0.87830	0.0:0.1236:0.8764:0.0	.	249;897	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	H	897	ENSP00000265742:D897H	ENSP00000265742:D897H	D	+	1	0	ANKIB1	91865618	1.000000	0.71417	0.999000	0.59377	0.844000	0.47949	7.558000	0.82253	1.596000	0.50062	0.655000	0.94253	GAC		0.507	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1				3	12	0	0	0	0.004672	0	3	12		
COL1A2	1278	broad.mit.edu	37	7	94057029	94057029	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:94057029G>C	ENST00000297268.6	+	49	3829	c.3358G>C	c.(3358-3360)Gac>Cac	p.D1120H		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1120					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|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)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTACAGGGCTGACCAGCCTCG	0.547										HNSCC(75;0.22)																												uc003ung.1		NaN																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(3358-3360)GAC>CAC		alpha 2 type I collagen precursor	Collagenase(DB00048)						99.0	98.0	99.0					7																	94057029		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94057029G>C	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3358G>C	7.37:g.94057029G>C	ENSP00000297268:p.Asp1120His	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.D1120H	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		49	3829	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1120					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.3358G>C	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843354	0.71488	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.90261	-2.64	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.95812	0.8637	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94735	0.7913	10	0.45353	T	0.12	.	20.2469	0.98398	0.0:0.0:1.0:0.0	.	1120	P08123	CO1A2_HUMAN	H	1120;1121	ENSP00000297268:D1120H	ENSP00000297268:D1120H	D	+	1	0	COL1A2	93894965	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.873000	0.98535	0.561000	0.74099	GAC		0.547	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2		NM_000089		23	69	0	0	0	0.014323	0	23	69		
COL1A2	1278	broad.mit.edu	37	7	94058695	94058695	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:94058695G>A	ENST00000297268.6	+	51	4378	c.3907G>A	c.(3907-3909)Gag>Aag	p.E1303K		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1303	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|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)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ACTTGTTGCTGAGGGCAACAG	0.458										HNSCC(75;0.22)																												uc003ung.1		NaN																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(3907-3909)GAG>AAG		alpha 2 type I collagen precursor	Collagenase(DB00048)						123.0	102.0	109.0					7																	94058695		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94058695G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3907G>A	7.37:g.94058695G>A	ENSP00000297268:p.Glu1303Lys	HNSCC(75;0.22)				COL1A2_uc011kib.1_Missense_Mutation_p.E155K	p.E1303K	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		51	4378	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1303			Fibrillar collagen NC1.		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.3907G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907323	0.72868	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	T	0.74526	-0.85	5.09	5.09	0.68999	Fibrillar collagen, C-terminal (4);	0.110638	0.64402	D	0.000011	D	0.85660	0.5748	M	0.73372	2.23	0.80722	D	1	D;D	0.76494	0.999;0.977	D;P	0.74348	0.983;0.766	D	0.85385	0.1122	10	0.49607	T	0.09	.	19.3783	0.94521	0.0:0.0:1.0:0.0	.	155;1303	B4DTF5;P08123	.;CO1A2_HUMAN	K	1303;1304	ENSP00000297268:E1303K	ENSP00000297268:E1303K	E	+	1	0	COL1A2	93896631	1.000000	0.71417	0.984000	0.44739	0.580000	0.36256	8.008000	0.88588	2.751000	0.94390	0.650000	0.86243	GAG		0.458	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2		NM_000089		14	50	0	0	0	0.00499	0	14	50		
NPTX2	4885	broad.mit.edu	37	7	98256482	98256482	+	Silent	SNP	G	G	T	rs145736632		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:98256482G>T	ENST00000265634.3	+	4	1059	c.894G>T	c.(892-894)gcG>gcT	p.A298A		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	298	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CACAGGTTGCGCAGCTGCCCC	0.632																																						uc003upl.2		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(892-894)GCG>GCT		neuronal pentraxin II precursor							68.0	58.0	61.0					7																	98256482		2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98256482G>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.894G>T	7.37:g.98256482G>T							p.A298A	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	1071	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		298			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.894G>T	CCDS5657.1																																																																																				0.632	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1		NM_002523		22	32	1	0	7.87624e-14	0.016522	8.40443e-14	22	32		
CYP3A4	1576	broad.mit.edu	37	7	99364768	99364768	+	Missense_Mutation	SNP	C	C	T	rs199908125		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:99364768C>T	ENST00000336411.2	-	8	967	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	RP11-757A13.1_ENST00000608397.1_RNA|CYP3A4_ENST00000354593.2_Missense_Mutation_p.E112K	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	262					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	TGTGTATCTTCGAGGCGACTT	0.308													C|||	1	0.000199681	0.0	0.0	5008	,	,		18181	0.0		0.001	False		,,,				2504	0.0					uc003urv.1		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(784-786)GAA>AAA		cytochrome P450, family 3, subfamily A,	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)						132.0	130.0	130.0					7																	99364768		2203	4300	6503	SO:0001583	missense	1576				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	g.chr7:99364768C>T	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.784G>A	7.37:g.99364768C>T	ENSP00000337915:p.Glu262Lys					CYP3A4_uc003urw.1_Missense_Mutation_p.E261K|CYP3A4_uc011kiz.1_Missense_Mutation_p.E221K|CYP3A4_uc011kja.1_Missense_Mutation_p.E213K|CYP3A4_uc011kjb.1_Missense_Mutation_p.E112K	p.E262K	NM_017460	NP_059488	P08684	CP3A4_HUMAN			8	888	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		262					P05184|Q16757|Q9UK50	Missense_Mutation	SNP	ENST00000336411.2	37	c.784G>A	CCDS5674.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.517	-0.863780	0.02590	.	.	ENSG00000160868	ENST00000354593;ENST00000336411	T;T	0.68331	-0.32;-0.32	4.03	-2.66	0.06077	.	0.585786	0.18000	N	0.154922	T	0.24353	0.0590	N	0.01086	-1.025	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.41142	-0.9525	10	0.02654	T	1	.	6.6281	0.22841	0.0:0.0937:0.4522:0.4541	.	112;189;262;262;262	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	K	112;262	ENSP00000346607:E112K;ENSP00000337915:E262K	ENSP00000337915:E262K	E	-	1	0	CYP3A4	99202704	0.000000	0.05858	0.264000	0.24511	0.285000	0.27093	-0.560000	0.05964	-0.247000	0.09597	-1.893000	0.00533	GAA		0.308	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1				16	35	0	0	0	0.008871	0	16	35		
MBLAC1	255374	broad.mit.edu	37	7	99725743	99725743	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:99725743C>T	ENST00000398075.2	+	2	1124	c.725C>T	c.(724-726)tCg>tTg	p.S242L	AC073842.19_ENST00000376482.3_RNA|RP11-506M12.1_ENST00000494221.1_RNA	NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	242							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.S242L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						AGGGAAGCCTCGCAGCCCGAG	0.677																																						uc003utp.2		NaN																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(724-726)TCG>TTG		metallo-beta-lactamase domain containing 1							18.0	23.0	21.0					7																	99725743		1957	4127	6084	SO:0001583	missense	255374						hydrolase activity|metal ion binding	g.chr7:99725743C>T	BC031288	CCDS43620.1	7q22	2014-02-12	2009-04-08		ENSG00000214309	ENSG00000214309			22180	protein-coding gene	gene with protein product							Standard	XM_005250250		Approved	MGC49416	uc003utp.3	A4D2B0	OTTHUMG00000154846	ENST00000398075.2:c.725C>T	7.37:g.99725743C>T	ENSP00000381150:p.Ser242Leu						p.S242L	NM_203397	NP_981942	A4D2B0	MBLC1_HUMAN			2	1124	+			242					Q8N5X8	Missense_Mutation	SNP	ENST00000398075.2	37	c.725C>T	CCDS43620.1	.	.	.	.	.	.	.	.	.	.	C	4.820	0.152543	0.09185	.	.	ENSG00000214309	ENST00000398075	T	0.30981	1.51	3.33	-1.18	0.09617	.	3.691790	0.01401	U	0.013610	T	0.17959	0.0431	N	0.19112	0.55	0.09310	N	1	B	0.27117	0.168	B	0.12837	0.008	T	0.09818	-1.0657	10	0.28530	T	0.3	.	4.5373	0.12040	0.0:0.3604:0.4033:0.2363	.	242	A4D2B0	MBLC1_HUMAN	L	242	ENSP00000381150:S242L	ENSP00000381150:S242L	S	+	2	0	MBLAC1	99563679	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.212000	0.17497	-0.138000	0.11434	-0.215000	0.12644	TCG		0.677	MBLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337353.1		NM_203397		3	10	0	0	0	0.009096	0	3	10		
PIK3CG	5294	broad.mit.edu	37	7	106545575	106545575	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:106545575C>G	ENST00000359195.3	+	11	3362	c.3052C>G	c.(3052-3054)Cta>Gta	p.L1018V	PIK3CG_ENST00000440650.2_Missense_Mutation_p.L1018V|PIK3CG_ENST00000496166.1_Missense_Mutation_p.L1018V	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	1018	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TAAGGCTTATCTAGCCCTTCG	0.398																																						uc003vdv.3		NaN																	0				lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(3052-3054)CTA>GTA		phosphoinositide-3-kinase, catalytic, gamma							163.0	156.0	158.0					7																	106545575		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106545575C>G		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.3052C>G	7.37:g.106545575C>G	ENSP00000352121:p.Leu1018Val					PIK3CG_uc003vdu.2_Missense_Mutation_p.L1018V|PIK3CG_uc003vdw.2_Missense_Mutation_p.L1018V	p.L1018V	NM_002649	NP_002640	P48736	PK3CG_HUMAN			11	3137	+			1018			PI3K/PI4K.		A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.3052C>G	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410960	0.62399	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.76316	-1.01;-1.01;-1.01	5.94	2.7	0.31948	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.068854	0.64402	D	0.000015	T	0.77651	0.4162	M	0.67700	2.07	0.58432	D	0.999998	P	0.42248	0.774	P	0.55011	0.766	T	0.74993	-0.3474	10	0.02654	T	1	-5.5569	5.9788	0.19395	0.1545:0.5897:0.0:0.2558	.	1018	P48736	PK3CG_HUMAN	V	1018	ENSP00000392258:L1018V;ENSP00000419260:L1018V;ENSP00000352121:L1018V	ENSP00000352121:L1018V	L	+	1	2	PIK3CG	106332811	0.984000	0.35163	0.540000	0.28089	0.978000	0.69477	2.203000	0.42752	0.824000	0.34613	-0.157000	0.13467	CTA		0.398	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1				41	136	0	0	0	0.01441	0	41	136		
GIMAP8	155038	broad.mit.edu	37	7	150174615	150174615	+	Missense_Mutation	SNP	C	C	T	rs190328124		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:150174615C>T	ENST00000307271.3	+	5	2319	c.1745C>T	c.(1744-1746)tCa>tTa	p.S582L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	582	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ATGAAGAACTCAGATAACAAA	0.483																																						uc003whj.2		NaN																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(1744-1746)TCA>TTA		GTPase, IMAP family member 8							79.0	89.0	85.0					7																	150174615		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150174615C>T	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1745C>T	7.37:g.150174615C>T	ENSP00000305107:p.Ser582Leu						p.S582L	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	5	2075	+			582						Missense_Mutation	SNP	ENST00000307271.3	37	c.1745C>T	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249838	0.39797	.	.	ENSG00000171115	ENST00000307271	T	0.05996	3.36	4.44	2.62	0.31277	AIG1 (1);	0.909549	0.09164	N	0.839740	T	0.09774	0.0240	M	0.72894	2.215	0.09310	N	1	B	0.21688	0.059	B	0.18871	0.023	T	0.28427	-1.0044	10	0.72032	D	0.01	.	6.6216	0.22806	0.0:0.7821:0.0:0.2179	.	582	Q8ND71	GIMA8_HUMAN	L	582	ENSP00000305107:S582L	ENSP00000305107:S582L	S	+	2	0	GIMAP8	149805548	0.004000	0.15560	0.001000	0.08648	0.004000	0.04260	1.113000	0.31184	0.511000	0.28236	0.655000	0.94253	TCA		0.483	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1		NM_175571		27	85	0	0	0	0.009535	0	27	85		
NUB1	51667	broad.mit.edu	37	7	151073831	151073831	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr7:151073831C>A	ENST00000355851.4	+	14	1680	c.1603C>A	c.(1603-1605)Ccc>Acc	p.P535T	NUB1_ENST00000413040.2_Missense_Mutation_p.P545T|NUB1_ENST00000568733.1_Missense_Mutation_p.P559T|WDR86_ENST00000463000.1_5'UTR|NUB1_ENST00000566856.1_Missense_Mutation_p.P521T	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	535					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		AAGCCTGCCTCCCGAGCTGCC	0.627																																						uc003wjx.2		NaN																	0					0						c.(1675-1677)CCC>ACC		NEDD8 ultimate buster-1							17.0	25.0	22.0					7																	151073831		2147	4247	6394	SO:0001583	missense	51667				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding	g.chr7:151073831C>A	AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"""NEDD8 ultimate buster-1"""	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.1603C>A	7.37:g.151073831C>A	ENSP00000348110:p.Pro535Thr					NUB1_uc003wjw.2_Missense_Mutation_p.P521T|NUB1_uc010lqc.2_RNA	p.P559T	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	14	1680	+			535					O95422|Q75MR9|Q8IX22|Q9BXR2	Missense_Mutation	SNP	ENST00000355851.4	37	c.1675C>A		.	.	.	.	.	.	.	.	.	.	C	11.50	1.656527	0.29425	.	.	ENSG00000013374	ENST00000413040;ENST00000355851	T	0.42513	0.97	5.76	1.3	0.21679	UBA-like (1);	0.545369	0.19701	N	0.108039	T	0.34366	0.0895	L	0.50333	1.59	0.09310	N	1	B;B	0.20261	0.025;0.043	B;B	0.24541	0.022;0.054	T	0.30387	-0.9980	10	0.52906	T	0.07	-9.0019	7.8031	0.29187	0.0:0.4692:0.3354:0.1954	.	535;521	Q9Y5A7;Q9Y5A7-2	NUB1_HUMAN;.	T	521;535	ENSP00000348110:P535T	ENSP00000348110:P535T	P	+	1	0	NUB1	150704764	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.314000	0.08092	0.338000	0.23692	-0.226000	0.12346	CCC		0.627	NUB1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_016118		4	7	1	0	0.00909568	0.009096	0.00930201	4	7		
ARHGEF10	9639	broad.mit.edu	37	8	1893769	1893769	+	Silent	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:1893769C>G	ENST00000398564.1	+	27	3420	c.3420C>G	c.(3418-3420)ctC>ctG	p.L1140L	ARHGEF10_ENST00000262112.6_Silent_p.L1111L|ARHGEF10_ENST00000520359.1_Silent_p.L1077L|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000349830.3_Silent_p.L1115L|ARHGEF10_ENST00000518288.1_Silent_p.L1139L			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1140					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CGGAAACTCTCAAGCACCTGC	0.617																																						uc003wpr.2		NaN																	0				large_intestine(1)	1						c.(3343-3345)CTC>CTG		Rho guanine nucleotide exchange factor 10							133.0	105.0	115.0					8																	1893769		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1893769C>G	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3420C>G	8.37:g.1893769C>G						ARHGEF10_uc003wps.2_Silent_p.L1077L|ARHGEF10_uc010lre.2_Silent_p.L766L	p.L1115L	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	27	3523	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	1140					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.3345C>G																																																																																					0.617	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding					18	38	0	0	0	0.008871	0	18	38		
MFHAS1	9258	broad.mit.edu	37	8	8750149	8750149	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:8750149G>A	ENST00000276282.6	-	1	1006	c.420C>T	c.(418-420)ctC>ctT	p.L140L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	140										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GGCTGAGGTTGAGCTTCCGCA	0.692																																					Melanoma(103;1201 2045 17515 28966)	uc003wsj.1		NaN																	0					0						c.(418-420)CTC>CTT		malignant fibrous histiocytoma amplified							15.0	21.0	19.0					8																	8750149		2191	4291	6482	SO:0001819	synonymous_variant	9258							g.chr8:8750149G>A	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.420C>T	8.37:g.8750149G>A							p.L140L	NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	983	-		Hepatocellular(245;0.217)	140			LRR 4.		Q96CI0	Silent	SNP	ENST00000276282.6	37	c.420C>T	CCDS34844.1																																																																																				0.692	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2		NM_004225		4	4	0	0	0	0.014758	0	4	4		
TNKS	8658	broad.mit.edu	37	8	9413865	9413865	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:9413865C>T	ENST00000310430.6	+	1	442	c.416C>T	c.(415-417)tCa>tTa	p.S139L	TNKS_ENST00000522110.1_Missense_Mutation_p.S139L|TNKS_ENST00000520408.1_Missense_Mutation_p.S139L|RP11-375N15.2_ENST00000607598.1_RNA	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	139	Poly-Ser.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ACTTCTTCCTCATCTTCCTCT	0.632																																						uc003wss.2		NaN																	0				lung(4)|ovary(2)|kidney(1)	7						c.(415-417)TCA>TTA		tankyrase, TRF1-interacting ankyrin-related							161.0	155.0	157.0					8																	9413865		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9413865C>T	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.416C>T	8.37:g.9413865C>T	ENSP00000311579:p.Ser139Leu					TNKS_uc011kwv.1_Missense_Mutation_p.S139L|uc003wsr.1_RNA	p.S139L	NM_003747	NP_003738	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	1	421	+			139			Poly-Ser.		O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.416C>T	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452846	0.63290	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000522110	T;T	0.66099	-0.19;-0.07	4.78	4.78	0.61160	.	0.379490	0.26692	N	0.022986	T	0.42988	0.1227	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.28870	-1.0030	10	0.27082	T	0.32	.	11.8	0.52122	0.0:0.919:0.0:0.081	.	139;139	E7EWY6;O95271	.;TNKS1_HUMAN	L	139	ENSP00000428299:S139L;ENSP00000311579:S139L	ENSP00000311579:S139L	S	+	2	0	TNKS	9451275	0.185000	0.23213	0.978000	0.43139	0.989000	0.77384	2.596000	0.46205	2.631000	0.89168	0.655000	0.94253	TCA		0.632	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1		NM_003747		50	86	0	0	0	0.01441	0	50	86		
WRN	7486	broad.mit.edu	37	8	31015039	31015039	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:31015039C>T	ENST00000298139.5	+	33	4224	c.3975C>T	c.(3973-3975)gtC>gtT	p.V1325V		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1325					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACCCTCCCGTCAACTCAGGTG	0.478			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	uc003xio.3		NaN	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Mis|N|F|S	Werner syndrome (RECQL2)			"""L, E, M, O"""		osteosarcoma|meningioma|others			0				ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(3973-3975)GTC>GTT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner syndrome protein							53.0	47.0	49.0					8																	31015039		2203	4300	6503	SO:0001819	synonymous_variant	7486	Werner_syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:31015039C>T		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.3975C>T	8.37:g.31015039C>T						WRN_uc010lvk.2_Silent_p.V792V	p.V1325V	NM_000553	NP_000544	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	33	4763	+		Breast(100;0.195)	1325					A1KYY9	Silent	SNP	ENST00000298139.5	37	c.3975C>T	CCDS6082.1																																																																																				0.478	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1				11	13	0	0	0	0.013537	0	11	13		
RAB11FIP1	80223	broad.mit.edu	37	8	37732208	37732208	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:37732208G>A	ENST00000330843.4	-	3	1459	c.1447C>T	c.(1447-1449)Ctt>Ttt	p.L483F	RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.L335F|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.L483F|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.L335F|RAB11FIP1_ENST00000523182.1_5'Flank	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	483					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTTCTCACAAGGTCTTCAGCA	0.552																																						uc003xkm.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1447-1449)CTT>TTT		RAB11 family interacting protein 1 isoform 3							130.0	132.0	131.0					8																	37732208		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37732208G>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1447C>T	8.37:g.37732208G>A	ENSP00000331342:p.Leu483Phe					RAB11FIP1_uc010lvz.1_Missense_Mutation_p.L331F|RAB11FIP1_uc003xkn.1_Missense_Mutation_p.L483F|RAB11FIP1_uc003xkl.1_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.L331F	p.L483F	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	1491	-		Lung NSC(58;0.118)|all_lung(54;0.195)	483					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.1447C>T	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	8.827	0.938958	0.18281	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.35236	2.06;2.35;1.34;1.32	4.62	2.8	0.32819	.	0.785759	0.11435	N	0.564450	T	0.37404	0.1002	L	0.60455	1.87	0.09310	N	1	B;B;B;B	0.34103	0.437;0.343;0.019;0.435	B;B;B;B	0.36335	0.1;0.222;0.029;0.206	T	0.16660	-1.0395	10	0.21014	T	0.42	.	14.3346	0.66581	0.0:0.4239:0.5761:0.0	.	335;335;483;483	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	F	483;483;335;335	ENSP00000287263:L483F;ENSP00000331342:L483F;ENSP00000430009:L335F;ENSP00000430680:L335F	ENSP00000287263:L483F	L	-	1	0	RAB11FIP1	37851366	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.166000	0.16583	0.381000	0.24851	-0.150000	0.13652	CTT		0.552	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1		NM_025151		6	158	0	0	0	0.001168	0	6	158		
POMK	84197	broad.mit.edu	37	8	42978000	42978000	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:42978000C>A	ENST00000331373.5	+	5	1288	c.1033C>A	c.(1033-1035)Cag>Aag	p.Q345K		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	345	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										CATGATGTCTCAGGCAAGAGA	0.493																																						uc003xpw.2		NaN																	0					0						c.(1033-1035)CAG>AAG		protein kinase-like protein SgK196							62.0	69.0	67.0					8																	42978000		2203	4300	6503	SO:0001583	missense	84197					integral to membrane	ATP binding|protein kinase activity	g.chr8:42978000C>A		CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.1033C>A	8.37:g.42978000C>A	ENSP00000331258:p.Gln345Lys						p.Q345K	NM_032237	NP_115613	Q9H5K3	SG196_HUMAN			5	1292	+			345			Protein kinase.			Missense_Mutation	SNP	ENST00000331373.5	37	c.1033C>A	CCDS6141.1	.	.	.	.	.	.	.	.	.	.	C	0.528	-0.859116	0.02610	.	.	ENSG00000185900	ENST00000331373	T	0.16897	2.31	5.33	4.44	0.53790	Protein kinase, catalytic domain (1);	0.419070	0.27189	N	0.020514	T	0.14313	0.0346	L	0.44542	1.39	0.28011	N	0.934919	B	0.26318	0.146	B	0.22152	0.038	T	0.07424	-1.0773	9	.	.	.	-3.3641	11.2547	0.49048	0.0:0.6669:0.3331:0.0	.	345	Q9H5K3	SG196_HUMAN	K	345	ENSP00000331258:Q345K	.	Q	+	1	0	AC113191.1	43097157	0.189000	0.23263	0.923000	0.36655	0.082000	0.17680	0.996000	0.29719	2.494000	0.84150	0.591000	0.81541	CAG		0.493	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2		NM_032237		46	53	1	0	2.0833e-19	0.01441	2.2274e-19	46	53		
MCM4	4173	broad.mit.edu	37	8	48874078	48874078	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:48874078C>T	ENST00000262105.2	+	2	282	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	PRKDC_ENST00000314191.2_5'Flank|PRKDC_ENST00000523565.1_5'Flank|PRKDC_ENST00000338368.3_5'Flank|MCM4_ENST00000523944.1_Missense_Mutation_p.R25W	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	25					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GACACAAGCTCGGAGTGAGGA	0.547																																						uc003xqk.1		NaN																	0				ovary(2)|skin(2)	4						c.(73-75)CGG>TGG		minichromosome maintenance complex component 4							64.0	65.0	64.0					8																	48874078		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48874078C>T		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.73C>T	8.37:g.48874078C>T	ENSP00000262105:p.Arg25Trp					PRKDC_uc003xqi.2_5'Flank|PRKDC_uc003xqj.2_5'Flank|PRKDC_uc011ldh.1_5'Flank|MCM4_uc003xql.1_Missense_Mutation_p.R25W|MCM4_uc011ldi.1_Missense_Mutation_p.R25W|MCM4_uc010lxw.1_RNA	p.R25W	NM_182746	NP_877423	P33991	MCM4_HUMAN			3	168	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	25					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.73C>T	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390556	0.42410	.	.	ENSG00000104738	ENST00000518221;ENST00000523944;ENST00000262105;ENST00000396826	T;T	0.03065	4.06;4.06	5.41	4.52	0.55395	.	0.629307	0.17542	N	0.170512	T	0.02688	0.0081	N	0.19112	0.55	0.80722	D	1	P;P	0.48589	0.912;0.561	B;B	0.29942	0.109;0.083	T	0.57294	-0.7836	10	0.72032	D	0.01	-1.2136	14.9599	0.71147	0.0:0.8564:0.1436:0.0	.	25;25	B3KMX0;P33991	.;MCM4_HUMAN	W	25	ENSP00000430194:R25W;ENSP00000262105:R25W	ENSP00000262105:R25W	R	+	1	2	MCM4	49036631	0.223000	0.23663	0.229000	0.23960	0.281000	0.26958	0.887000	0.28254	1.271000	0.44313	0.561000	0.74099	CGG		0.547	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1		NM_005914		12	53	0	0	0	0.003163	0	12	53		
RP1	6101	broad.mit.edu	37	8	55538439	55538439	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:55538439C>T	ENST00000220676.1	+	4	2145	c.1997C>T	c.(1996-1998)tCa>tTa	p.S666L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	666					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGATTTTGTCATCTGTTGCC	0.348																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NaN																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(1996-1998)TCA>TTA		retinitis pigmentosa RP1 protein							31.0	32.0	32.0					8																	55538439		2198	4283	6481	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538439C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1997C>T	8.37:g.55538439C>T	ENSP00000220676:p.Ser666Leu					RP1_uc011ldy.1_Intron	p.S666L	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2145	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	666						Missense_Mutation	SNP	ENST00000220676.1	37	c.1997C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	2.027	-0.423318	0.04734	.	.	ENSG00000104237	ENST00000220676	T	0.25414	1.8	5.93	3.98	0.46160	.	0.137634	0.33572	N	0.004774	T	0.20373	0.0490	L	0.38531	1.155	0.09310	N	1	B	0.15141	0.012	B	0.13407	0.009	T	0.16364	-1.0405	10	0.49607	T	0.09	.	10.2509	0.43368	0.0:0.8365:0.0:0.1635	.	666	P56715	RP1_HUMAN	L	666	ENSP00000220676:S666L	ENSP00000220676:S666L	S	+	2	0	RP1	55700992	0.000000	0.05858	0.008000	0.14137	0.040000	0.13550	-0.072000	0.11486	0.724000	0.32296	0.591000	0.81541	TCA		0.348	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2		NM_006269		10	23	0	0	0	0.008291	0	10	23		
LYN	4067	broad.mit.edu	37	8	56866484	56866484	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:56866484G>A	ENST00000519728.1	+	8	1027	c.731G>A	c.(730-732)cGg>cAg	p.R244Q	LYN_ENST00000520220.2_Missense_Mutation_p.R223Q	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	244					B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	GAGATCCCCCGGGAGTCCATC	0.527																																						uc003xsk.3		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(730-732)CGG>CAG		Yamaguchi sarcoma viral (v-yes-1) oncogene							95.0	95.0	95.0					8																	56866484		2203	4300	6503	SO:0001583	missense	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56866484G>A	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.731G>A	8.37:g.56866484G>A	ENSP00000428924:p.Arg244Gln					LYN_uc003xsl.3_Missense_Mutation_p.R223Q	p.R244Q	NM_002350	NP_002341	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		8	1013	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	244					A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.731G>A	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332901	0.95758	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	T;T	0.11604	2.76;2.76	5.08	5.08	0.68730	Protein kinase-like domain (1);SH2 motif (1);	0.048607	0.85682	D	0.000000	T	0.44767	0.1309	H	0.94345	3.525	0.42717	D	0.993666	D;D	0.76494	0.999;0.999	D;P	0.63877	0.919;0.844	T	0.62402	-0.6862	10	0.87932	D	0	.	18.8254	0.92115	0.0:0.0:1.0:0.0	.	314;244	Q6NUK7;P07948	.;LYN_HUMAN	Q	244;223	ENSP00000428924:R244Q;ENSP00000428424:R223Q	ENSP00000428924:R244Q	R	+	2	0	LYN	57029038	0.620000	0.27068	0.833000	0.33012	0.984000	0.73092	2.792000	0.47837	2.534000	0.85438	0.650000	0.86243	CGG		0.527	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1		NM_002350		18	72	0	0	0	0.014323	0	18	72		
NECAB1	64168	broad.mit.edu	37	8	91962060	91962060	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:91962060G>C	ENST00000417640.2	+	11	1223	c.886G>C	c.(886-888)Gaa>Caa	p.E296Q	NECAB1_ENST00000521366.1_Missense_Mutation_p.E45Q|NECAB1_ENST00000522820.1_Missense_Mutation_p.E45Q	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	296	ABM.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GCTTTCAAATGAATCTCGCTA	0.353																																						uc011lgg.1		NaN																	0				central_nervous_system(1)	1						c.(886-888)GAA>CAA		N-terminal EF-hand calcium binding protein 1							141.0	125.0	130.0					8																	91962060		1830	4091	5921	SO:0001583	missense	64168				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	g.chr8:91962060G>C	AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.886G>C	8.37:g.91962060G>C	ENSP00000387380:p.Glu296Gln					NECAB1_uc003yer.2_Missense_Mutation_p.E45Q	p.E296Q	NM_022351	NP_071746	Q8N987	NECA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0499)		11	1080	+			296			ABM.		Q6NUS7|Q96AZ7|Q9HBW8	Missense_Mutation	SNP	ENST00000417640.2	37	c.886G>C	CCDS47889.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934876	0.73442	.	.	ENSG00000123119	ENST00000417640;ENST00000522820;ENST00000521366	T;T;T	0.30714	1.52;1.52;1.52	5.72	5.72	0.89469	Dimeric alpha-beta barrel (1);Antibiotic biosynthesis monooxygenase (1);	0.049244	0.85682	D	0.000000	T	0.34658	0.0905	L	0.59436	1.845	0.58432	D	0.999997	P	0.42584	0.784	B	0.40009	0.316	T	0.04607	-1.0939	10	0.28530	T	0.3	-13.03	18.6541	0.91441	0.0:0.0:1.0:0.0	.	296	Q8N987	NECA1_HUMAN	Q	296;45;45	ENSP00000387380:E296Q;ENSP00000428953:E45Q;ENSP00000428632:E45Q	ENSP00000387380:E296Q	E	+	1	0	NECAB1	92031236	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.252000	0.72447	2.718000	0.92993	0.655000	0.94253	GAA		0.353	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1		NM_022351		4	13	0	0	0	0.009096	0	4	13		
INTS8	55656	broad.mit.edu	37	8	95850811	95850811	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:95850811C>G	ENST00000523731.1	+	8	1115	c.982C>G	c.(982-984)Caa>Gaa	p.Q328E	INTS8_ENST00000447247.1_Missense_Mutation_p.Q328E	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	328					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TCCATATAGTCAAGTCCATAT	0.413																																						uc003yhb.2		NaN																	0					0						c.(982-984)CAA>GAA		integrator complex subunit 8							187.0	166.0	173.0					8																	95850811		2203	4300	6503	SO:0001583	missense	55656				snRNA processing	integrator complex	protein binding	g.chr8:95850811C>G	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.982C>G	8.37:g.95850811C>G	ENSP00000430338:p.Gln328Glu					INTS8_uc003yha.1_Missense_Mutation_p.Q328E|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.Q155E	p.Q328E	NM_017864	NP_060334	Q75QN2	INT8_HUMAN			8	1108	+	Breast(36;1.05e-06)		328			TPR 2.		B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	c.982C>G	CCDS34925.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126010	0.37533	.	.	ENSG00000164941	ENST00000523731;ENST00000447247	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.74329	0.3702	L	0.50333	1.59	0.80722	D	1	P;P	0.52577	0.566;0.954	B;D	0.67900	0.208;0.954	T	0.69537	-0.5119	9	0.28530	T	0.3	-13.3774	19.2018	0.93714	0.0:1.0:0.0:0.0	.	328;328	Q75QN2;Q75QN2-2	INT8_HUMAN;.	E	328	.	ENSP00000343274:Q328E	Q	+	1	0	INTS8	95919987	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	1.619000	0.36965	2.522000	0.85027	0.491000	0.48974	CAA		0.413	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1		NM_017864		34	90	0	0	0	0.005524	0	34	90		
INTS8	55656	broad.mit.edu	37	8	95885644	95885644	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:95885644C>T	ENST00000523731.1	+	22	2709	c.2576C>T	c.(2575-2577)gCa>gTa	p.A859V	INTS8_ENST00000447247.1_Missense_Mutation_p.A859V	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	859					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TACCTCCAGGCAGGAGCTGTG	0.448																																						uc003yhb.2		NaN																	0					0						c.(2575-2577)GCA>GTA		integrator complex subunit 8							288.0	280.0	283.0					8																	95885644		2203	4300	6503	SO:0001583	missense	55656				snRNA processing	integrator complex	protein binding	g.chr8:95885644C>T	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.2576C>T	8.37:g.95885644C>T	ENSP00000430338:p.Ala859Val					INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.A686V	p.A859V	NM_017864	NP_060334	Q75QN2	INT8_HUMAN			22	2702	+	Breast(36;1.05e-06)		859			TPR 4.		B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	37	c.2576C>T	CCDS34925.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.161557|5.161557	0.94727|0.94727	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000523731;ENST00000447247|ENST00000520526	T;T|.	0.72282|.	-0.64;-0.64|.	4.81|4.81	4.81|4.81	0.61882|0.61882	Tetratricopeptide-like helical (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75072|.	0.3800|.	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.75020|.	0.985|.	T|.	0.75698|.	-0.3227|.	10|.	0.87932|.	D|.	0|.	-31.2973|-31.2973	17.9015|17.9015	0.88905|0.88905	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	859|.	Q75QN2|.	INT8_HUMAN|.	V|X	859|681	ENSP00000430338:A859V;ENSP00000398203:A859V|.	ENSP00000398203:A859V|.	A|Q	+|+	2|1	0|0	INTS8|INTS8	95954820|95954820	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	7.487000|7.487000	0.81328|0.81328	2.210000|2.210000	0.71456|0.71456	0.655000|0.655000	0.94253|0.94253	GCA|CAG		0.448	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1		NM_017864		97	251	0	0	0	0.01441	0	97	251		
RNF19A	25897	broad.mit.edu	37	8	101270981	101270981	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:101270981G>A	ENST00000519449.1	-	11	2636	c.2320C>T	c.(2320-2322)Cag>Tag	p.Q774*	RNF19A_ENST00000341084.2_Nonsense_Mutation_p.Q774*|RNF19A_ENST00000523255.1_5'Flank	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	774	Interaction with CASR.				microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ATGCTACACTGATGTGGGGAA	0.398																																						uc003yjj.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2320-2322)CAG>TAG		ring finger protein 19							94.0	96.0	95.0					8																	101270981		2203	4300	6503	SO:0001587	stop_gained	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101270981G>A	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.2320C>T	8.37:g.101270981G>A	ENSP00000428968:p.Gln774*					RNF19A_uc003yjk.1_Nonsense_Mutation_p.Q774*	p.Q774*	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		11	2637	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		774			Interaction with CASR.		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Nonsense_Mutation	SNP	ENST00000519449.1	37	c.2320C>T	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	G	40	8.133629	0.98670	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	.	.	.	5.96	5.96	0.96718	.	0.242338	0.42964	D	0.000621	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	20.0118	0.97458	0.0:0.0:1.0:0.0	.	.	.	.	X	774	.	ENSP00000342667:Q774X	Q	-	1	0	RNF19A	101340157	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.624000	0.74243	2.819000	0.97034	0.585000	0.79938	CAG		0.398	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1		NM_015435		28	64	0	0	0	0.007291	0	28	64		
RNF19A	25897	broad.mit.edu	37	8	101271310	101271310	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:101271310G>A	ENST00000519449.1	-	11	2307	c.1991C>T	c.(1990-1992)tCc>tTc	p.S664F	RNF19A_ENST00000341084.2_Missense_Mutation_p.S664F|RNF19A_ENST00000523255.1_5'UTR	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	664	Interaction with CASR.				microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TGCTTCTTTGGACCACTTGGT	0.473											OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003yjj.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1990-1992)TCC>TTC		ring finger protein 19							167.0	158.0	161.0					8																	101271310		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101271310G>A	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1991C>T	8.37:g.101271310G>A	ENSP00000428968:p.Ser664Phe		OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1357	RNF19A_uc003yjk.1_Missense_Mutation_p.S664F	p.S664F	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		11	2308	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		664			Interaction with CASR.		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.1991C>T	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239238	0.58995	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.84660	-1.88;-1.88	5.89	5.89	0.94794	.	0.166261	0.56097	D	0.000039	D	0.85762	0.5772	L	0.50333	1.59	0.80722	D	1	P	0.37864	0.61	B	0.41988	0.372	D	0.86005	0.1497	10	0.72032	D	0.01	.	19.8612	0.96785	0.0:0.0:1.0:0.0	.	664	Q9NV58	RN19A_HUMAN	F	664	ENSP00000428968:S664F;ENSP00000342667:S664F	ENSP00000342667:S664F	S	-	2	0	RNF19A	101340486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.666000	0.83877	2.788000	0.95919	0.585000	0.79938	TCC		0.473	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1		NM_015435		38	101	0	0	0	0.00623	0	38	101		
PKHD1L1	93035	broad.mit.edu	37	8	110534432	110534432	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:110534432G>C	ENST00000378402.5	+	74	12153	c.12049G>C	c.(12049-12051)Gaa>Caa	p.E4017Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4017					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)			GCAGTTATCTGAACTCCAGGA	0.348										HNSCC(38;0.096)																												uc003yne.2		NaN																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(12049-12051)GAA>CAA		fibrocystin L precursor							75.0	70.0	72.0					8																	110534432		1844	4089	5933	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110534432G>C	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.12049G>C	8.37:g.110534432G>C	ENSP00000367655:p.Glu4017Gln	HNSCC(38;0.096)					p.E4017Q	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		74	12153	+			4017			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.12049G>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402198	0.42613	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.85773	-2.03;-1.87	5.54	5.54	0.83059	.	0.334034	0.29692	N	0.011447	D	0.86965	0.6060	L	0.59436	1.845	0.22961	N	0.9985	D	0.57571	0.98	P	0.50490	0.642	T	0.80540	-0.1337	10	0.34782	T	0.22	.	17.3476	0.87314	0.0:0.0:1.0:0.0	.	4017	Q86WI1	PKHL1_HUMAN	Q	4017;945	ENSP00000367655:E4017Q;ENSP00000437376:E945Q	ENSP00000367655:E4017Q	E	+	1	0	PKHD1L1	110603608	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	4.156000	0.58138	2.760000	0.94817	0.655000	0.94253	GAA		0.348	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531		8	15	0	0	0	0.00308	0	8	15		
MTSS1	9788	broad.mit.edu	37	8	125579322	125579322	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:125579322G>C	ENST00000518547.1	-	8	1189	c.716C>G	c.(715-717)tCa>tGa	p.S239*	MTSS1_ENST00000354184.4_Nonsense_Mutation_p.S39*|MTSS1_ENST00000524090.1_Nonsense_Mutation_p.S129*|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000395508.2_5'Flank|MTSS1_ENST00000431961.2_Nonsense_Mutation_p.S39*|MTSS1_ENST00000325064.5_Nonsense_Mutation_p.S243*|MTSS1_ENST00000378017.3_Nonsense_Mutation_p.S239*	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	239	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.|Ser-rich.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGTTCACTTGAGGAGGGCAG	0.483																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	uc003yrk.2		NaN																	0				ovary(1)	1						c.(715-717)TCA>TGA		metastasis suppressor 1							199.0	174.0	182.0					8																	125579322		2203	4300	6503	SO:0001587	stop_gained	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125579322G>C	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.716C>G	8.37:g.125579322G>C	ENSP00000429064:p.Ser239*					NDUFB9_uc011lim.1_Intron|MTSS1_uc011lin.1_5'Flank|MTSS1_uc011lio.1_Nonsense_Mutation_p.S129*|MTSS1_uc003yri.2_Nonsense_Mutation_p.S39*|MTSS1_uc003yrj.2_Nonsense_Mutation_p.S239*|MTSS1_uc003yrl.2_Nonsense_Mutation_p.S243*	p.S239*	NM_014751	NP_055566	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		8	1250	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		239			IMD.|Ser-rich.		J3KNK6|Q8TCA2|Q96RX2	Nonsense_Mutation	SNP	ENST00000518547.1	37	c.716C>G	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	G	38	6.939335	0.97948	.	.	ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000354184;ENST00000325064;ENST00000431961;ENST00000524090;ENST00000522118	.	.	.	5.33	5.33	0.75918	.	0.196816	0.45361	D	0.000368	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-15.691	19.3868	0.94560	0.0:0.0:1.0:0.0	.	.	.	.	X	239;239;39;243;39;129;39	.	ENSP00000322804:S243X	S	-	2	0	MTSS1	125648503	1.000000	0.71417	0.936000	0.37596	0.984000	0.73092	9.869000	0.99810	2.654000	0.90174	0.561000	0.74099	TCA		0.483	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3		NM_014751		3	56	0	0	0	0.004672	0	3	56		
KIAA0196	9897	broad.mit.edu	37	8	126090994	126090994	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:126090994C>G	ENST00000318410.7	-	6	1046	c.697G>C	c.(697-699)Gat>Cat	p.D233H	KIAA0196_ENST00000517845.1_Missense_Mutation_p.D85H	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	233					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTGTAAATATCATCAGATCTC	0.398																																						uc003yrt.2		NaN																	0				ovary(2)	2						c.(697-699)GAT>CAT		strumpellin							113.0	99.0	104.0					8																	126090994		2203	4300	6503	SO:0001583	missense	9897				cell death	WASH complex		g.chr8:126090994C>G		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.697G>C	8.37:g.126090994C>G	ENSP00000318016:p.Asp233His					KIAA0196_uc011lir.1_Missense_Mutation_p.D85H	p.D233H	NM_014846	NP_055661	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		6	1026	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		233					A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.697G>C	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.505575	0.85282	.	.	ENSG00000164961	ENST00000318410;ENST00000517845;ENST00000523297	D;D;D	0.91351	-2.83;-2.83;-2.83	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.96106	0.8731	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96446	0.9330	10	0.87932	D	0	-23.007	19.3563	0.94416	0.0:1.0:0.0:0.0	.	233	Q12768	STRUM_HUMAN	H	233;85;85	ENSP00000318016:D233H;ENSP00000429676:D85H;ENSP00000427946:D85H	ENSP00000318016:D233H	D	-	1	0	KIAA0196	126160176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.661000	0.83786	2.658000	0.90341	0.655000	0.94253	GAT		0.398	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1		NM_014846		22	63	0	0	0	0.016522	0	22	63		
ZFAT	57623	broad.mit.edu	37	8	135524803	135524803	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:135524803G>C	ENST00000377838.3	-	14	3450	c.3276C>G	c.(3274-3276)ctC>ctG	p.L1092L	ZFAT_ENST00000523399.1_Silent_p.L1030L|ZFAT_ENST00000429442.2_Silent_p.L1080L|ZFAT_ENST00000517307.1_5'Flank|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000520214.1_Silent_p.L1080L|ZFAT_ENST00000520727.1_Silent_p.L1080L	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1092					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTGTGATGTGGAGATACTGGG	0.522																																						uc003yup.2		NaN																	0				central_nervous_system(1)	1						c.(3274-3276)CTC>CTG		zinc finger protein 406 isoform ZFAT-1							145.0	152.0	150.0					8																	135524803		1965	4145	6110	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135524803G>C	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3276C>G	8.37:g.135524803G>C						ZFAT_uc011ljj.1_Silent_p.L211L|ZFAT_uc003yun.2_Silent_p.L1080L|ZFAT_uc003yuo.2_Silent_p.L1080L|ZFAT_uc010meh.2_Intron|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.L1080L|ZFAT_uc010mej.2_Silent_p.L1030L	p.L1092L	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		14	3451	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		1092					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.3276C>G	CCDS47924.1																																																																																				0.522	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1		NM_001029939		35	103	0	0	0	0.005524	0	35	103		
FAM135B	51059	broad.mit.edu	37	8	139164734	139164734	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:139164734G>A	ENST00000395297.1	-	13	2154	c.1984C>T	c.(1984-1986)Cac>Tac	p.H662Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	662										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TCTTCTGTGTGAGAGTCCTTT	0.502										HNSCC(54;0.14)																												uc003yuy.2		NaN																	0				ovary(7)|skin(2)	9						c.(1984-1986)CAC>TAC		hypothetical protein LOC51059							90.0	89.0	89.0					8																	139164734		1904	4116	6020	SO:0001583	missense	51059							g.chr8:139164734G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1984C>T	8.37:g.139164734G>A	ENSP00000378710:p.His662Tyr	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.H563Y|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.H224Y|FAM135B_uc003yvb.2_Missense_Mutation_p.H224Y	p.H662Y	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2155	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		662					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.1984C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	0.057	-1.232871	0.01505	.	.	ENSG00000147724	ENST00000395297	T	0.14391	2.51	5.44	3.46	0.39613	.	1.172950	0.05814	N	0.614537	T	0.16342	0.0393	L	0.57536	1.79	0.09310	N	1	P;P;B	0.49447	0.924;0.775;0.386	P;B;B	0.44811	0.461;0.243;0.063	T	0.08617	-1.0713	10	0.02654	T	1	1.5821	9.5376	0.39231	0.0815:0.0:0.7674:0.1511	.	662;662;662	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	Y	662	ENSP00000378710:H662Y	ENSP00000276737:H662Y	H	-	1	0	FAM135B	139233916	0.011000	0.17503	0.030000	0.17652	0.021000	0.10359	1.774000	0.38573	1.314000	0.45095	0.655000	0.94253	CAC		0.502	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3		NM_015912		24	63	0	0	0	0.00632	0	24	63		
FAM135B	51059	broad.mit.edu	37	8	139263175	139263175	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:139263175G>T	ENST00000395297.1	-	6	621	c.451C>A	c.(451-453)Cag>Aag	p.Q151K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	151										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACCGGGACCTGGTGGTGCAGA	0.587										HNSCC(54;0.14)																												uc003yuy.2		NaN																	0				ovary(7)|skin(2)	9						c.(451-453)CAG>AAG		hypothetical protein LOC51059							131.0	145.0	140.0					8																	139263175		2116	4220	6336	SO:0001583	missense	51059							g.chr8:139263175G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.451C>A	8.37:g.139263175G>T	ENSP00000378710:p.Gln151Lys	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.Q52K|FAM135B_uc003yuz.2_RNA	p.Q151K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		6	622	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		151					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.451C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021181	0.93462	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.13778	2.56	5.47	4.59	0.56863	.	0.131931	0.49916	D	0.000132	T	0.10208	0.0250	N	0.22421	0.69	0.41904	D	0.99043	P	0.49185	0.92	B	0.39971	0.315	T	0.04307	-1.0961	10	0.72032	D	0.01	-11.7159	12.7675	0.57401	0.0787:0.0:0.9213:0.0	.	151	Q49AJ0	F135B_HUMAN	K	151	ENSP00000378710:Q151K	ENSP00000160713:Q151K	Q	-	1	0	FAM135B	139332357	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.767000	0.68850	2.587000	0.87381	0.561000	0.74099	CAG		0.587	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3		NM_015912		52	189	1	0	2.53126e-37	0.01441	2.74982e-37	52	189		
BAI1	575	broad.mit.edu	37	8	143570748	143570748	+	Silent	SNP	G	G	A	rs377353688		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:143570748G>A	ENST00000517894.1	+	16	3474	c.2580G>A	c.(2578-2580)ccG>ccA	p.P860P	BAI1_ENST00000323289.5_Silent_p.P860P			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	860					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGAAACCCCCGCCTCGCTCCC	0.602																																						uc003ywm.2		NaN																	0				lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(2578-2580)CCG>CCA		brain-specific angiogenesis inhibitor 1							102.0	111.0	108.0					8																	143570748		2045	4195	6240	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143570748G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2580G>A	8.37:g.143570748G>A							p.P860P	NM_001702	NP_001693	O14514	BAI1_HUMAN			15	2763	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		860			Extracellular (Potential).			Silent	SNP	ENST00000517894.1	37	c.2580G>A																																																																																					0.602	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3		NM_001702		32	144	0	0	0	0.004878	0	32	144		
ADAMTSL1	92949	broad.mit.edu	37	9	18777151	18777151	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:18777151G>A	ENST00000380548.4	+	19	3263	c.2924G>A	c.(2923-2925)aGa>aAa	p.R975K		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	975						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTGAGCCCGAGAAGTGAGGAA	0.652																																						uc003zne.3		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(2923-2925)AGA>AAA		ADAMTS-like 1 isoform 4 precursor							29.0	34.0	33.0					9																	18777151		1883	4093	5976	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18777151G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2924G>A	9.37:g.18777151G>A	ENSP00000369921:p.Arg975Lys						p.R975K	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	19	3051	+			975					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.2924G>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	0.433	-0.902386	0.02453	.	.	ENSG00000178031	ENST00000380548	T	0.62364	0.03	5.64	3.73	0.42828	.	0.071793	0.08080	U	1.000000	T	0.41236	0.1150	N	0.14661	0.345	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.17837	-1.0356	10	0.02654	T	1	.	9.7214	0.40306	0.0:0.3444:0.4754:0.1801	.	975	Q8N6G6	ATL1_HUMAN	K	975	ENSP00000369921:R975K	ENSP00000369921:R975K	R	+	2	0	ADAMTSL1	18767151	0.009000	0.17119	0.010000	0.14722	0.126000	0.20510	1.721000	0.38032	0.679000	0.31345	0.462000	0.41574	AGA		0.652	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1				5	40	0	0	0	0.001168	0	5	40		
ELAVL2	1993	broad.mit.edu	37	9	23701419	23701419	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:23701419C>T	ENST00000397312.2	-	5	945	c.671G>A	c.(670-672)aGa>aAa	p.R224K	ELAVL2_ENST00000544538.1_Missense_Mutation_p.R224K|ELAVL2_ENST00000380110.4_Missense_Mutation_p.R253K|ELAVL2_ENST00000223951.6_Missense_Mutation_p.R224K|ELAVL2_ENST00000380117.1_Missense_Mutation_p.R224K	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	224					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TGGATACCTTCTGTTTGGAGA	0.488																																						uc003zpu.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(670-672)AGA>AAA		ELAV (embryonic lethal, abnormal vision,							298.0	292.0	294.0					9																	23701419		2203	4300	6503	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23701419C>T	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.671G>A	9.37:g.23701419C>T	ENSP00000380479:p.Arg224Lys					ELAVL2_uc003zps.2_Missense_Mutation_p.R224K|ELAVL2_uc003zpt.2_Missense_Mutation_p.R224K|ELAVL2_uc003zpv.2_Missense_Mutation_p.R224K|ELAVL2_uc003zpw.2_Missense_Mutation_p.R224K	p.R224K	NM_004432	NP_004423	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	5	946	-			224					D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.671G>A	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756234	0.89843	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000423281	T;T;T;T;T	0.15487	2.42;2.91;2.91;2.91;3.01	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.41050	0.1142	M	0.87097	2.86	0.80722	D	1	B;B	0.30193	0.059;0.272	B;B	0.42245	0.018;0.381	T	0.33369	-0.9871	10	0.66056	D	0.02	.	20.3241	0.98686	0.0:1.0:0.0:0.0	.	224;224	Q12926;Q12926-2	ELAV2_HUMAN;.	K	224;224;224;224;224;252;89	ENSP00000223951:R224K;ENSP00000380479:R224K;ENSP00000440998:R224K;ENSP00000369460:R224K;ENSP00000391757:R89K	ENSP00000223951:R224K	R	-	2	0	ELAVL2	23691419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.468000	0.80943	2.812000	0.96745	0.563000	0.77884	AGA		0.488	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2		NM_004432		23	153	0	0	0	0.004656	0	23	153		
NDUFB6	4712	broad.mit.edu	37	9	32553939	32553939	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:32553939C>T	ENST00000379847.3	-	4	423	c.322G>A	c.(322-324)Gat>Aat	p.D108N	TOPORS-AS1_ENST00000453396.1_RNA|TOPORS-AS1_ENST00000425533.1_RNA|TOPORS_ENST00000379858.1_5'Flank|NDUFB6_ENST00000350021.2_Missense_Mutation_p.D93N|TOPORS_ENST00000360538.2_5'Flank|TOPORS-AS1_ENST00000458036.1_RNA|TOPORS-AS1_ENST00000450093.1_RNA|TOPORS-AS1_ENST00000540066.1_RNA	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	108					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)		AGAATTGTATCACCCTAGGAA	0.333																																						uc003zre.1		NaN																	0					0						c.(322-324)GAT>AAT		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						77.0	84.0	82.0					9																	32553939		2203	4298	6501	SO:0001583	missense	4712				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr9:32553939C>T	AF035840	CCDS6528.1, CCDS6529.1, CCDS75826.1	9p13.2	2011-07-04	2002-08-29		ENSG00000165264	ENSG00000165264		"""Mitochondrial respiratory chain complex / Complex I"""	7701	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase beta subunit, 6"", ""NADH-ubiquinone oxidoreductase B17 subunit"", ""complex I, mitochondrial respiratory chain, B17 subunit"""	603322	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6 (17kD, B17)"""			9763677, 9760212	Standard	NM_002493		Approved	B17, CI	uc003zre.2	O95139	OTTHUMG00000019741	ENST00000379847.3:c.322G>A	9.37:g.32553939C>T	ENSP00000369176:p.Asp108Asn					TOPORS_uc003zrb.2_5'Flank|TOPORS_uc003zrc.2_5'Flank|NDUFB6_uc003zrf.1_Missense_Mutation_p.D93N	p.D108N	NM_002493	NP_002484	O95139	NDUB6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)	4	446	-			108					A8K0Y7|Q5VYT2|Q6IB84	Missense_Mutation	SNP	ENST00000379847.3	37	c.322G>A	CCDS6528.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.945510	0.92593	.	.	ENSG00000165264	ENST00000379847;ENST00000350021	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.78604	0.4309	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77624	-0.2518	9	0.38643	T	0.18	-30.9618	16.5968	0.84798	0.0:1.0:0.0:0.0	.	93;108	Q5VYT2;O95139	.;NDUB6_HUMAN	N	108;93	.	ENSP00000297983:D93N	D	-	1	0	NDUFB6	32543939	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.928000	0.70088	2.511000	0.84671	0.585000	0.79938	GAT		0.333	NDUFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052001.1		NM_002493		48	64	0	0	0	0.01441	0	48	64		
KIAA1045	23349	broad.mit.edu	37	9	34971383	34971383	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:34971383G>C	ENST00000242315.3	+	2	170	c.88G>C	c.(88-90)Gac>Cac	p.D30H	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.D30H	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	30							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			TGGGCTGCGGGACAGGCCTTC	0.617																																						uc003zvq.2		NaN																	0				skin(1)	1						c.(88-90)GAC>CAC		hypothetical protein LOC23349							78.0	86.0	83.0					9																	34971383		2142	4238	6380	SO:0001583	missense	23349						calcium ion binding	g.chr9:34971383G>C	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.88G>C	9.37:g.34971383G>C	ENSP00000242315:p.Asp30His					KIAA1045_uc003zvr.2_Missense_Mutation_p.D30H	p.D30H	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		2	266	+			30					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.88G>C	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	g	33	5.251535	0.95305	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.66	5.66	0.87406	.	0.207718	0.42294	D	0.000732	T	0.73426	0.3585	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	D	0.63192	0.912	T	0.74910	-0.3503	9	0.72032	D	0.01	-9.4299	18.746	0.91792	0.0:0.0:1.0:0.0	.	30	Q9UPV7	K1045_HUMAN	H	30	.	ENSP00000242315:D30H	D	+	1	0	KIAA1045	34961383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.307000	0.78920	2.657000	0.90304	0.655000	0.94253	GAC		0.617	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2		XM_048592		8	87	0	0	0	0.010729	0	8	87		
KIAA1045	23349	broad.mit.edu	37	9	34971486	34971486	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:34971486G>A	ENST00000242315.3	+	2	273	c.191G>A	c.(190-192)gGa>gAa	p.G64E	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.G64E	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	64							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GCAGAAGCAGGAACCTCGGTG	0.652																																						uc003zvq.2		NaN																	0				skin(1)	1						c.(190-192)GGA>GAA		hypothetical protein LOC23349							62.0	75.0	71.0					9																	34971486		2061	4183	6244	SO:0001583	missense	23349						calcium ion binding	g.chr9:34971486G>A	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.191G>A	9.37:g.34971486G>A	ENSP00000242315:p.Gly64Glu					KIAA1045_uc003zvr.2_Missense_Mutation_p.G64E	p.G64E	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		2	369	+			64					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.191G>A	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	g	10.56	1.384355	0.25031	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.8	3.77	0.43336	.	0.376421	0.29529	N	0.011895	T	0.38931	0.1059	L	0.36672	1.1	0.22378	N	0.999157	B	0.20988	0.05	B	0.26770	0.073	T	0.32295	-0.9912	9	0.46703	T	0.11	-10.1871	12.6786	0.56908	0.0:0.1733:0.7114:0.1153	.	64	Q9UPV7	K1045_HUMAN	E	64	.	ENSP00000242315:G64E	G	+	2	0	KIAA1045	34961486	0.008000	0.16893	0.712000	0.30502	0.171000	0.22731	0.475000	0.22164	2.744000	0.94065	0.655000	0.94253	GGA		0.652	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2		XM_048592		10	70	0	0	0	0.008291	0	10	70		
KIAA1045	23349	broad.mit.edu	37	9	34972478	34972478	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:34972478G>A	ENST00000242315.3	+	3	596	c.514G>A	c.(514-516)Gag>Aag	p.E172K	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.E172K	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	172							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CAGTGCAGCGGAGGTGACGGA	0.597																																						uc003zvq.2		NaN																	0				skin(1)	1						c.(514-516)GAG>AAG		hypothetical protein LOC23349							82.0	95.0	91.0					9																	34972478		2067	4199	6266	SO:0001583	missense	23349						calcium ion binding	g.chr9:34972478G>A	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.514G>A	9.37:g.34972478G>A	ENSP00000242315:p.Glu172Lys					KIAA1045_uc003zvr.2_Missense_Mutation_p.E172K	p.E172K	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		3	692	+			172			PHD-type.		B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.514G>A	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	g	26.6	4.750686	0.89753	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.73	5.73	0.89815	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	M	0.64997	1.995	0.80722	D	1	P	0.48503	0.911	B	0.43867	0.434	T	0.67015	-0.5777	9	0.72032	D	0.01	-0.5435	18.8848	0.92372	0.0:0.0:1.0:0.0	.	172	Q9UPV7	K1045_HUMAN	K	172	.	ENSP00000242315:E172K	E	+	1	0	KIAA1045	34962478	1.000000	0.71417	0.856000	0.33681	0.877000	0.50540	8.735000	0.91549	2.700000	0.92200	0.655000	0.94253	GAG		0.597	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2		XM_048592		14	96	0	0	0	0.007413	0	14	96		
RUSC2	9853	broad.mit.edu	37	9	35546546	35546546	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:35546546G>C	ENST00000455600.1	+	2	597	c.28G>C	c.(28-30)Gag>Cag	p.E10Q	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	10						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGACTGGAGAGACCCTCAT	0.562																																						uc003zww.2		NaN																	0				ovary(1)	1						c.(28-30)GAG>CAG		RUN and SH3 domain containing 2							94.0	88.0	90.0					9																	35546546		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35546546G>C	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.28G>C	9.37:g.35546546G>C	ENSP00000393922:p.Glu10Gln					RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.E10Q	p.E10Q	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	283	+			10					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.28G>C	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153918	0.78114	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.43688	0.94;0.94	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.57460	0.2055	L	0.34521	1.04	0.53688	D	0.999975	D	0.89917	1.0	D	0.83275	0.996	T	0.57148	-0.7861	10	0.87932	D	0	-18.7632	19.6529	0.95825	0.0:0.0:1.0:0.0	.	10	Q8N2Y8	RUSC2_HUMAN	Q	10	ENSP00000355177:E10Q;ENSP00000393922:E10Q	ENSP00000355177:E10Q	E	+	1	0	RUSC2	35536546	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.359000	0.97115	2.890000	0.99128	0.655000	0.94253	GAG		0.562	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1		XM_048462		68	87	0	0	0	0.01441	0	68	87		
RECK	8434	broad.mit.edu	37	9	36118870	36118870	+	Silent	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:36118870C>T	ENST00000377966.3	+	18	2936	c.2370C>T	c.(2368-2370)gtC>gtT	p.V790V		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	790					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GCCAGGCCGTCGGAGTCCTCT	0.602																																						uc003zyv.2		NaN																	0				skin(2)|ovary(1)	3						c.(2368-2370)GTC>GTT		RECK protein precursor							87.0	76.0	80.0					9																	36118870		2203	4300	6503	SO:0001819	synonymous_variant	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36118870C>T	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2370C>T	9.37:g.36118870C>T						RECK_uc003zyw.2_Silent_p.V662V|RECK_uc003zyx.2_RNA	p.V790V	NM_021111	NP_066934	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		18	2456	+			790					B2RNS1|Q5W0K6|Q8WX37	Silent	SNP	ENST00000377966.3	37	c.2370C>T	CCDS6597.1																																																																																				0.602	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1				13	72	0	0	0	0.001855	0	13	72		
FRMPD1	22844	broad.mit.edu	37	9	37746482	37746482	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:37746482G>C	ENST00000539465.1	+	16	5046	c.4453G>C	c.(4453-4455)Gag>Cag	p.E1485Q	FRMPD1_ENST00000377765.3_Missense_Mutation_p.E1485Q|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1485						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GTCCCCCGAAGAGATGCAGGG	0.637																																						uc004aag.1		NaN																	0				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(4453-4455)GAG>CAG		FERM and PDZ domain containing 1							30.0	32.0	32.0					9																	37746482		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37746482G>C	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4453G>C	9.37:g.37746482G>C	ENSP00000444411:p.Glu1485Gln					FRMPD1_uc004aah.1_Missense_Mutation_p.E1485Q	p.E1485Q	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4497	+			1485					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.4453G>C	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.786276	0.90282	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.12361	2.69;2.69	5.53	5.53	0.82687	.	0.052836	0.64402	D	0.000001	T	0.34948	0.0915	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.02190	-1.1198	10	0.87932	D	0	-20.1458	16.956	0.86259	0.0:0.0:1.0:0.0	.	1485	Q5SYB0	FRPD1_HUMAN	Q	1485	ENSP00000366995:E1485Q;ENSP00000444411:E1485Q	ENSP00000366995:E1485Q	E	+	1	0	FRMPD1	37736482	1.000000	0.71417	0.984000	0.44739	0.958000	0.62258	8.710000	0.91388	2.602000	0.87976	0.655000	0.94253	GAG		0.637	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1		NM_014907		18	24	0	0	0	0.012319	0	18	24		
TMC1	117531	broad.mit.edu	37	9	75366836	75366836	+	Silent	SNP	C	C	T	rs376768305		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:75366836C>T	ENST00000297784.5	+	11	1146	c.606C>T	c.(604-606)ctC>ctT	p.L202L	TMC1_ENST00000396237.3_Silent_p.L202L|TMC1_ENST00000340019.3_Silent_p.L202L	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	202					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ATATGGTTCTCTTTATCCTGA	0.373																																					Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1		NaN																	0				ovary(1)	1						c.(604-606)CTC>CTT		transmembrane channel-like 1							202.0	200.0	201.0					9																	75366836		2203	4300	6503	SO:0001819	synonymous_variant	117531				sensory perception of sound	integral to membrane		g.chr9:75366836C>T	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.606C>T	9.37:g.75366836C>T						TMC1_uc010moz.1_Silent_p.L160L|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Silent_p.L56L|TMC1_uc010mpa.1_Silent_p.L56L	p.L202L	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			11	1146	+			202			Helical; (Potential).		A8MVZ2|B1AM91	Silent	SNP	ENST00000297784.5	37	c.606C>T	CCDS6643.1																																																																																				0.373	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1				59	82	0	0	0	0.01441	0	59	82		
TRPM6	140803	broad.mit.edu	37	9	77397292	77397292	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:77397292C>G	ENST00000360774.1	-	23	3432	c.3195G>C	c.(3193-3195)ttG>ttC	p.L1065F	TRPM6_ENST00000449912.2_Missense_Mutation_p.L1060F|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.L1060F|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.L1065F|TRPM6_ENST00000451710.3_Missense_Mutation_p.L1065F	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1065					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGAAAGCAATCAACAGGTTCA	0.363																																						uc004ajl.1		NaN																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(3193-3195)TTG>TTC		transient receptor potential cation channel,							74.0	72.0	73.0					9																	77397292		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77397292C>G	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3195G>C	9.37:g.77397292C>G	ENSP00000354006:p.Leu1065Phe					TRPM6_uc004ajk.1_Missense_Mutation_p.L1060F|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_3'UTR	p.L1065F	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			23	3433	-			1065			Helical; (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.3195G>C	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.642999	0.67244	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	D;D;D;D;D	0.81996	-1.52;-1.52;-1.52;-1.52;-1.56	6.06	4.08	0.47627	Ion transport (1);	0.124567	0.52532	D	0.000062	D	0.92280	0.7551	M	0.93550	3.43	0.47862	D	0.999533	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.978	D	0.92289	0.5840	10	0.87932	D	0	.	10.2651	0.43449	0.0:0.5474:0.3746:0.0779	.	1065;1060	Q9BX84;Q9BX84-3	TRPM6_HUMAN;.	F	1065;1065;1060;1060;1065;728;728	ENSP00000354006:L1065F;ENSP00000407341:L1065F;ENSP00000396672:L1060F;ENSP00000354962:L1060F;ENSP00000366060:L1065F	ENSP00000309693:L728F	L	-	3	2	TRPM6	76587112	0.999000	0.42202	0.998000	0.56505	0.997000	0.91878	0.559000	0.23485	0.759000	0.33084	0.655000	0.94253	TTG		0.363	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1		NM_017662		26	42	0	0	0	0.008361	0	26	42		
PRUNE2	158471	broad.mit.edu	37	9	79320827	79320827	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:79320827G>A	ENST00000376718.3	-	8	6486	c.6363C>T	c.(6361-6363)ctC>ctT	p.L2121L	PRUNE2_ENST00000428286.1_Silent_p.L1762L	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2121					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						TGCAAGCACTGAGGTGCTTCT	0.493																																						uc010mpk.2		NaN																	0					0						c.(6361-6363)CTC>CTT		prune homolog 2							170.0	156.0	160.0					9																	79320827		1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79320827G>A	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.6363C>T	9.37:g.79320827G>A						PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	p.L2121L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	6487	-			2121					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.6363C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	3.328	-0.137382	0.06711	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.73	-0.604	0.11626	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	4.6718	3.2632	0.06856	0.3697:0.0997:0.4288:0.1017	.	.	.	.	X	1443	.	.	Q	-	1	0	PRUNE2	78510647	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.244000	0.08903	-0.068000	0.12953	0.655000	0.94253	CAG		0.493	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2		NM_138818		55	80	0	0	0	0.01441	0	55	80		
HNRNPK	3190	broad.mit.edu	37	9	86587005	86587005	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:86587005G>A	ENST00000376264.2	-	11	1003	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	HNRNPK_ENST00000376281.4_Missense_Mutation_p.R249C|HNRNPK_ENST00000376263.3_Missense_Mutation_p.R249C|HNRNPK_ENST00000360384.5_Missense_Mutation_p.R249C|MIR7-1_ENST00000384871.1_RNA|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000351839.3_Missense_Mutation_p.R249C	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	249	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1. {ECO:0000250}.|Necessary for interaction with DDX1.|RNA-binding RGG-box.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CCCACTGGGCGTCCGCGACGG	0.498																																						uc004ang.3		NaN																	0				skin(1)	1						c.(745-747)CGC>TGC		heterogeneous nuclear ribonucleoprotein K							52.0	55.0	54.0					9																	86587005		2203	4300	6503	SO:0001583	missense	3190				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding	g.chr9:86587005G>A		CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.745C>T	9.37:g.86587005G>A	ENSP00000365440:p.Arg249Cys					HNRNPK_uc011lsw.1_Missense_Mutation_p.R9C|HNRNPK_uc004and.3_Missense_Mutation_p.R9C|HNRNPK_uc004ank.3_Missense_Mutation_p.R249C|HNRNPK_uc004anf.3_Missense_Mutation_p.R249C|HNRNPK_uc004anh.3_Missense_Mutation_p.R225C|HNRNPK_uc011lsx.1_Missense_Mutation_p.R225C|HNRNPK_uc004ani.3_Missense_Mutation_p.R249C|HNRNPK_uc004anj.3_Missense_Mutation_p.R249C|HNRNPK_uc004ann.3_Missense_Mutation_p.R225C|HNRNPK_uc004anl.3_Missense_Mutation_p.R249C|HNRNPK_uc004anm.3_Missense_Mutation_p.R249C|uc004ano.1_5'Flank|MIR7-1_hsa-mir-7-1|MI0000263_5'Flank	p.R249C	NM_031262	NP_112552	P61978	HNRPK_HUMAN			11	969	-			249			5 X 4 AA repeats of G-X-G-G.|2 X 22 AA approximate repeats.|RNA-binding RGG-box.|2 X 6 AA approximate repeats.|2-1.|Necessary for interaction with DDX1.|Interaction with ZIK1 (By similarity).		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	37	c.745C>T	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328173	0.60743	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156;ENST00000376256	T;T;T;T;T	0.51574	0.72;0.7;0.72;0.7;0.7	5.31	5.31	0.75309	.	0.055638	0.64402	D	0.000001	T	0.46927	0.1418	L	0.54323	1.7	0.80722	D	1	B;B;B;B;B;B;B;B	0.17852	0.0;0.004;0.005;0.002;0.024;0.007;0.001;0.014	B;B;B;B;B;B;B;B	0.15484	0.0;0.002;0.002;0.001;0.013;0.003;0.003;0.006	T	0.39251	-0.9623	10	0.49607	T	0.09	-0.6367	17.5267	0.87802	0.0:0.0:1.0:0.0	.	225;214;249;244;249;225;249;249	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	C	249;249;249;249;249;214;249;244;225;180	ENSP00000365458:R249C;ENSP00000365440:R249C;ENSP00000365439:R249C;ENSP00000317788:R249C;ENSP00000353552:R249C	ENSP00000317788:R249C	R	-	1	0	HNRNPK	85776825	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	9.177000	0.94849	2.636000	0.89361	0.655000	0.94253	CGC		0.498	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2				35	43	0	0	0	0.004878	0	35	43		
CTSL	1514	broad.mit.edu	37	9	90342571	90342571	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:90342571C>G	ENST00000343150.5	+	2	943	c.53C>G	c.(52-54)aCt>aGt	p.T18S	CTSL_ENST00000340342.6_Missense_Mutation_p.T18S|CTSL_ENST00000495822.1_3'UTR|CTSL_ENST00000342020.5_Missense_Mutation_p.T18S			P07711	CATL1_HUMAN	cathepsin L	18					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										GCCTCAGCTACTCTAACATTT	0.428																																						uc004aph.2		NaN																	0				ovary(3)	3						c.(52-54)ACT>AGT		cathepsin L1 preproprotein	Glucagon recombinant(DB00040)						124.0	112.0	117.0					9																	90342571		2203	4300	6503	SO:0001583	missense	1514				macrophage apoptosis|proteolysis	extracellular region|lysosome|nucleus	cysteine-type endopeptidase activity|histone binding	g.chr9:90342571C>G	X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"""Cathepsins"""	2537	protein-coding gene	gene with protein product		116880	"""cathepsin L1"""	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.53C>G	9.37:g.90342571C>G	ENSP00000345344:p.Thr18Ser					CTSL1_uc004api.2_Missense_Mutation_p.T18S|CTSL1_uc004apj.2_Intron|CTSL1_uc010mqh.2_5'UTR|CTSL1_uc004apk.2_Missense_Mutation_p.T18S|CTSL1_uc004apl.2_Missense_Mutation_p.T18S	p.T18S	NM_001912	NP_001903	P07711	CATL1_HUMAN			2	403	+			18					Q6IAV1|Q96QJ0	Missense_Mutation	SNP	ENST00000343150.5	37	c.53C>G	CCDS6675.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242165	0.22796	.	.	ENSG00000135047	ENST00000343150;ENST00000340342;ENST00000342020;ENST00000539280	T;T;T	0.70516	-0.49;-0.49;-0.0	3.9	-0.183	0.13284	.	0.476691	0.23045	N	0.052571	T	0.48040	0.1478	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35943	-0.9768	10	0.44086	T	0.13	.	8.2452	0.31684	0.0:0.6337:0.0:0.3663	.	18	P07711	CATL1_HUMAN	S	18	ENSP00000345344:T18S;ENSP00000365061:T18S;ENSP00000340470:T18S	ENSP00000365061:T18S	T	+	2	0	CTSL1	89532391	0.072000	0.21174	0.000000	0.03702	0.004000	0.04260	0.266000	0.18534	0.016000	0.14998	0.484000	0.47621	ACT		0.428	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1		NM_001912		3	124	0	0	0	0.009096	0	3	124		
SHC3	53358	broad.mit.edu	37	9	91667005	91667005	+	Silent	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:91667005G>C	ENST00000375835.4	-	7	1215	c.909C>G	c.(907-909)ctC>ctG	p.L303L	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	303	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						GCTTAAACCGGAGCTCAAAGG	0.488																																						uc004aqg.2		NaN																	0				lung(3)|skin(1)	4						c.(907-909)CTC>CTG		src homology 2 domain-containing transforming							113.0	106.0	108.0					9																	91667005		2203	4300	6503	SO:0001819	synonymous_variant	53358				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	g.chr9:91667005G>C	D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"""SH2 domain containing"""	18181	protein-coding gene	gene with protein product		605263	"""src homology 2 domain containing transforming protein C3"""			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.909C>G	9.37:g.91667005G>C							p.L303L	NM_016848	NP_058544	Q92529	SHC3_HUMAN			7	1216	-			303			PID.		Q5T7I7|Q8TAP2|Q9UCX5	Silent	SNP	ENST00000375835.4	37	c.909C>G	CCDS6681.1																																																																																				0.488	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1		NM_016848		7	73	0	0	0	0.001984	0	7	73		
PTCH1	5727	broad.mit.edu	37	9	98229398	98229398	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:98229398C>T	ENST00000331920.6	-	15	2859	c.2560G>A	c.(2560-2562)Gga>Aga	p.G854R	PTCH1_ENST00000421141.1_Splice_Site_p.G703R|PTCH1_ENST00000430669.2_Splice_Site_p.G788R|PTCH1_ENST00000418258.1_Splice_Site_p.G703R|PTCH1_ENST00000375274.2_Splice_Site_p.G853R|PTCH1_ENST00000437951.1_Splice_Site_p.G788R|PTCH1_ENST00000429896.2_Splice_Site_p.G703R	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	854					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.G854*(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GCCGTCTTACCCTGAAGCCAG	0.458																																						uc004avk.3		NaN																	1	Substitution - Nonsense(1)	p.G854*(1)	upper_aerodigestive_tract(1)	skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(2560-2562)GGA>AGA		patched isoform L							96.0	86.0	89.0					9																	98229398		2203	4300	6503	SO:0001630	splice_region_variant	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98229398C>T	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2560+1G>A	9.37:g.98229398C>T						PTCH1_uc010mro.2_Missense_Mutation_p.G703R|PTCH1_uc010mrp.2_Missense_Mutation_p.G703R|PTCH1_uc010mrq.2_Missense_Mutation_p.G703R|PTCH1_uc004avl.3_Missense_Mutation_p.G703R|PTCH1_uc010mrr.2_Missense_Mutation_p.G788R|PTCH1_uc004avm.3_Missense_Mutation_p.G853R	p.G854R	NM_000264	NP_000255	Q13635	PTC1_HUMAN			15	2748	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	854			Extracellular (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.2560G>A	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984873	0.74474	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.91985	0.7461	M	0.71036	2.16	0.80722	D	1	D;D;P	0.76494	0.999;0.999;0.885	D;D;P	0.75484	0.986;0.982;0.771	D	0.91234	0.5016	9	.	.	.	-16.7611	19.4362	0.94796	0.0:1.0:0.0:0.0	.	788;853;854	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	R	854;788;703;703;290;788;703;853	ENSP00000332353:G854R;ENSP00000389744:G788R;ENSP00000399981:G703R;ENSP00000396135:G703R;ENSP00000410287:G788R;ENSP00000414823:G703R;ENSP00000364423:G853R	.	G	-	1	0	PTCH1	97269219	1.000000	0.71417	0.990000	0.47175	0.160000	0.22226	7.487000	0.81328	2.590000	0.87494	0.591000	0.81541	GGA		0.458	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2		NM_000264	Missense_Mutation	5	33	0	0	0	0.014758	0	5	33		
ABCA1	19	broad.mit.edu	37	9	107554264	107554264	+	Missense_Mutation	SNP	G	G	A	rs568280586		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:107554264G>A	ENST00000374736.3	-	43	6167	c.5773C>T	c.(5773-5775)Cgg>Tgg	p.R1925W		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1925	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> Q (in Scott syndrome; shows impaired trafficking of the mutant protein to the plasma membrane; dbSNP:rs142688906). {ECO:0000269|PubMed:15790791}.		apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GCAGGCTTCCGCTTCCTTCTA	0.438																																						uc004bcl.2		NaN																	0				large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(5773-5775)CGG>TGG		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						89.0	76.0	81.0					9																	107554264		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107554264G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5773C>T	9.37:g.107554264G>A	ENSP00000363868:p.Arg1925Trp						p.R1925W	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	43	6086	-			1925		R -> Q (in Scott syndrome; shows impaired trafficking of the mutant protein to the plasma membrane).	ABC transporter 2.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.5773C>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906692	0.72868	.	.	ENSG00000165029	ENST00000374736	D	0.93659	-3.26	5.82	3.47	0.39725	ABC transporter-like (1);	0.150978	0.64402	D	0.000009	D	0.94601	0.8260	M	0.73962	2.25	0.80722	D	1	D	0.69078	0.997	P	0.51657	0.676	D	0.94066	0.7331	10	0.87932	D	0	.	15.4424	0.75195	0.0:0.0:0.5703:0.4297	.	1925	O95477	ABCA1_HUMAN	W	1925	ENSP00000363868:R1925W	ENSP00000363868:R1925W	R	-	1	2	ABCA1	106594085	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.154000	0.31688	0.465000	0.27167	-0.397000	0.06425	CGG		0.438	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1		NM_005502		6	33	0	0	0	0.006214	0	6	33		
PSMD5	5711	broad.mit.edu	37	9	123593680	123593680	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:123593680C>T	ENST00000210313.3	-	4	564	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	PSMD5_ENST00000373904.5_Intron|PSMD5-AS1_ENST00000589026.1_RNA	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	164					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						AGATTGCTTTCAAATAAAGCC	0.368																																						uc004bko.2		NaN																	0					0						c.(490-492)GAA>AAA		proteasome 26S non-ATPase subunit 5							158.0	147.0	151.0					9																	123593680		2203	4300	6503	SO:0001583	missense	5711				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr9:123593680C>T	AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"""Proteasome (prosome, macropain) subunits"""	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.490G>A	9.37:g.123593680C>T	ENSP00000210313:p.Glu164Lys					PSMD5_uc011lye.1_Intron	p.E164K	NM_005047	NP_005038	Q16401	PSMD5_HUMAN			4	509	-			164					B4DZM8|Q15045|Q4VXG8	Missense_Mutation	SNP	ENST00000210313.3	37	c.490G>A	CCDS6824.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305905	0.40795	.	.	ENSG00000095261	ENST00000210313	T	0.32272	1.46	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.448888	0.28241	N	0.016078	T	0.19046	0.0457	N	0.17474	0.49	0.80722	D	1	B	0.15141	0.012	B	0.19148	0.024	T	0.09465	-1.0673	10	0.18276	T	0.48	.	12.1087	0.53827	0.0:0.9211:0.0:0.0789	.	164	Q16401	PSMD5_HUMAN	K	164	ENSP00000210313:E164K	ENSP00000210313:E164K	E	-	1	0	PSMD5	122633501	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.293000	0.59037	2.835000	0.97688	0.650000	0.86243	GAA		0.368	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053825.2		NM_005047		15	77	0	0	0	0.004007	0	15	77		
TOR2A	27433	broad.mit.edu	37	9	130496590	130496590	+	Silent	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:130496590G>A	ENST00000373284.5	-	2	451	c.405C>T	c.(403-405)atC>atT	p.I135I	TOR2A_ENST00000458505.3_Intron|TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000336067.6_Silent_p.I135I|TOR2A_ENST00000373281.5_Silent_p.I135I	NM_001085347.2	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	135					chaperone mediated protein folding requiring cofactor (GO:0051085)|protein homooligomerization (GO:0051260)	endoplasmic reticulum lumen (GO:0005788)	ATP binding (GO:0005524)			NS(1)|endometrium(2)	3						TGTAGCGCTCGATGTGGCTGG	0.642											OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004brs.3		NaN																	0					0						c.(403-405)ATC>ATT		torsin family 2, member A isoform a							30.0	31.0	31.0					9																	130496590		2178	4280	6458	SO:0001819	synonymous_variant	27433				chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity	g.chr9:130496590G>A	AA873275	CCDS6876.1, CCDS43879.1, CCDS48024.1	9q34.11	2010-08-20			ENSG00000160404	ENSG00000160404			11996	protein-coding gene	gene with protein product		608052				10644435	Standard	NM_001085347		Approved	FLJ14771, TORP1	uc004brs.4	Q5JU69	OTTHUMG00000020706	ENST00000373284.5:c.405C>T	9.37:g.130496590G>A			OREG0019509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1580	TOR2A_uc004brt.3_Silent_p.I135I|TOR2A_uc004brw.3_Silent_p.I135I|TOR2A_uc011maj.1_Intron|TOR2A_uc004bru.3_Intron|TOR2A_uc004brv.3_Intron|TOR2A_uc004brx.1_5'UTR	p.I135I	NM_001085347	NP_001078816	Q5JU69	TOR2A_HUMAN			2	460	-			135					A4FU12|A4FU13|Q3ZCN9|Q3ZCP0|Q5JU68|Q66K87|Q6UXW6|Q8NAN5|Q96SL7	Silent	SNP	ENST00000373284.5	37	c.405C>T	CCDS43879.1																																																																																				0.642	TOR2A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054205.1		NM_130459		16	36	0	0	0	0.010504	0	16	36		
PRRC2B	84726	broad.mit.edu	37	9	134350698	134350698	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:134350698G>A	ENST00000357304.4	+	15	3237	c.3182G>A	c.(3181-3183)aGa>aAa	p.R1061K	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1061							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TTTGGGGTCAGAGGACAGGCC	0.607																																						uc004can.3		NaN																	0					0						c.(3181-3183)AGA>AAA		HLA-B associated transcript 2-like							25.0	29.0	27.0					9																	134350698		1858	4090	5948	SO:0001583	missense	84726						protein binding	g.chr9:134350698G>A	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3182G>A	9.37:g.134350698G>A	ENSP00000349856:p.Arg1061Lys					BAT2L1_uc010mzj.1_Missense_Mutation_p.R644K|BAT2L1_uc004cao.3_Missense_Mutation_p.R419K	p.R1061K	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			15	3237	+			1061					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.3182G>A	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550667	0.86127	.	.	ENSG00000130723	ENST00000357304;ENST00000418650	T	0.27104	1.69	5.96	5.07	0.68467	.	.	.	.	.	T	0.34077	0.0885	L	0.56769	1.78	0.80722	D	1	P;B	0.51351	0.944;0.441	P;B	0.48270	0.572;0.138	T	0.06679	-1.0813	8	.	.	.	.	14.5563	0.68103	0.0698:0.0:0.9302:0.0	.	357;1061	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	K	1061;357	ENSP00000349856:R1061K	.	R	+	2	0	PRRC2B	133340519	1.000000	0.71417	0.983000	0.44433	0.998000	0.95712	7.595000	0.82710	1.537000	0.49254	0.655000	0.94253	AGA		0.607	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					5	22	0	0	0	0.014758	0	5	22		
LHX3	8022	broad.mit.edu	37	9	139090906	139090906	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:139090906C>T	ENST00000371748.5	-	4	551		c.e4-1		LHX3_ENST00000371746.3_Splice_Site	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3						inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GCCTCGGCCTCTGCGCGGCGG	0.776																																						uc004cha.2		NaN																	0				skin(1)	1						c.e4-1		LIM homeobox protein 3 isoform a							12.0	13.0	13.0					9																	139090906		2159	4249	6408	SO:0001630	splice_region_variant	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139090906C>T	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.455-1G>A	9.37:g.139090906C>T						LHX3_uc004cgz.2_Splice_Site_p.E157_splice	p.E152_splice	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	4	552	-		Myeloproliferative disorder(178;0.0511)						Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Splice_Site	SNP	ENST00000371748.5	37	c.455_splice	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317636	0.60524	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8468	0.70267	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LHX3	138230727	1.000000	0.71417	0.998000	0.56505	0.499000	0.33736	4.002000	0.57053	1.959000	0.56917	0.555000	0.69702	.		0.776	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			Intron	8	7	0	0	0	0.006214	0	8	7		
MAN1B1	11253	broad.mit.edu	37	9	140002847	140002847	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:140002847C>G	ENST00000371589.4	+	13	1977	c.1904C>G	c.(1903-1905)tCg>tGg	p.S635W	MAN1B1_ENST00000474902.1_Missense_Mutation_p.S338W|MAN1B1_ENST00000540391.1_3'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	635					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CAGGTCCCCTCGGGTGGCTAT	0.612																																						uc004cld.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1903-1905)TCG>TGG		alpha 1,2-mannosidase							79.0	77.0	78.0					9																	140002847		2203	4300	6503	SO:0001583	missense	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:140002847C>G	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1904C>G	9.37:g.140002847C>G	ENSP00000360645:p.Ser635Trp					MAN1B1_uc011mep.1_3'UTR|MAN1B1_uc010ncc.2_RNA|MAN1B1_uc004clf.1_Missense_Mutation_p.S308W|MAN1B1_uc004clg.1_RNA	p.S635W	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	13	1939	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	635			Lumenal (Potential).		Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	ENST00000371589.4	37	c.1904C>G	CCDS7029.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148178	0.37923	.	.	ENSG00000177239	ENST00000371589;ENST00000474902	T;T	0.73047	-0.71;-0.71	5.44	5.44	0.79542	.	.	.	.	.	D	0.86163	0.5867	M	0.88031	2.925	0.24382	N	0.994786	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.971	T	0.79727	-0.1682	8	.	.	.	.	13.9134	0.63881	0.0:0.8476:0.1524:0.0	.	308;635	B3KXZ1;Q9UKM7	.;MA1B1_HUMAN	W	635;338	ENSP00000360645:S635W;ENSP00000447256:S338W	.	S	+	2	0	MAN1B1	139122668	0.263000	0.24083	0.968000	0.41197	0.223000	0.24884	4.379000	0.59575	2.561000	0.86390	0.561000	0.74099	TCG		0.612	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2		NM_016219		7	39	0	0	0	0.008291	0	7	39		
MAN1B1	11253	broad.mit.edu	37	9	140002885	140002885	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr9:140002885C>G	ENST00000371589.4	+	13	2015	c.1942C>G	c.(1942-1944)Cag>Gag	p.Q648E	MAN1B1_ENST00000474902.1_Missense_Mutation_p.Q351E|MAN1B1_ENST00000540391.1_3'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	648					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CCAGGATCCTCAGAAGCCCGA	0.597																																						uc004cld.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1942-1944)CAG>GAG		alpha 1,2-mannosidase							135.0	130.0	132.0					9																	140002885		2203	4300	6503	SO:0001583	missense	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:140002885C>G	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1942C>G	9.37:g.140002885C>G	ENSP00000360645:p.Gln648Glu					MAN1B1_uc011mep.1_3'UTR|MAN1B1_uc010ncc.2_RNA|MAN1B1_uc004clf.1_Missense_Mutation_p.Q321E|MAN1B1_uc004clg.1_RNA	p.Q648E	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	13	1977	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	648			Lumenal (Potential).		Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	ENST00000371589.4	37	c.1942C>G	CCDS7029.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.204|0.204	-1.042065|-1.042065	0.01997|0.01997	.|.	.|.	ENSG00000177239|ENSG00000177239	ENST00000371589;ENST00000474902|ENST00000550113	T;T|.	0.81330|.	-1.48;-1.48|.	5.44|5.44	-0.882|-0.882	0.10604|0.10604	.|.	.|.	.|.	.|.	.|.	T|.	0.18635|.	0.0447|.	N|N	0.11201|0.11201	0.11|0.11	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.06405|.	0.002;0.001|.	T|.	0.31916|.	-0.9926|.	8|.	.|.	.|.	.|.	.|.	9.3272|9.3272	0.37999|0.37999	0.6019:0.2007:0.1974:0.0|0.6019:0.2007:0.1974:0.0	.|.	321;648|.	B3KXZ1;Q9UKM7|.	.;MA1B1_HUMAN|.	E|X	648;351|72	ENSP00000360645:Q648E;ENSP00000447256:Q351E|.	.|.	Q|S	+|+	1|2	0|0	MAN1B1|MAN1B1	139122706|139122706	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.868000|0.868000	0.49771|0.49771	0.341000|0.341000	0.19909|0.19909	0.204000|0.204000	0.20548|0.20548	0.561000|0.561000	0.74099|0.74099	CAG|TCA		0.597	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2		NM_016219		10	85	0	0	0	0.010729	0	10	85		
RBM10	8241	broad.mit.edu	37	X	47045024	47045024	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chrX:47045024C>G	ENST00000377604.3	+	20	3092	c.2350C>G	c.(2350-2352)Cac>Gac	p.H784D	RBM10_ENST00000345781.6_Missense_Mutation_p.H707D|RBM10_ENST00000329236.7_Missense_Mutation_p.H706D	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	784					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CTCAGGGCTCCACAAGGTAAC	0.612																																					Melanoma(171;120 2705 19495 39241)	uc004dhf.2		NaN																	0				ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						c.(2350-2352)CAC>GAC		RNA binding motif protein 10 isoform 1							49.0	37.0	41.0					X																	47045024		2201	4299	6500	SO:0001583	missense	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47045024C>G	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.2350C>G	X.37:g.47045024C>G	ENSP00000366829:p.His784Asp					RBM10_uc004dhg.2_Missense_Mutation_p.H706D|RBM10_uc004dhh.2_Missense_Mutation_p.H783D|RBM10_uc010nhq.2_Missense_Mutation_p.H707D|RBM10_uc004dhi.2_Missense_Mutation_p.H849D	p.H784D	NM_005676	NP_005667	P98175	RBM10_HUMAN			20	2729	+			784			C2H2-type; atypical.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	c.2350C>G	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876466	0.51801	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.60920	0.71;0.15;0.41	5.37	5.37	0.77165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.79299	0.4422	M	0.87456	2.885	0.58432	D	0.999994	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.996;1.0	D;D;D;D;D	0.97110	0.996;0.999;1.0;0.99;0.999	T	0.83233	-0.0062	10	0.87932	D	0	-28.1276	15.6673	0.77238	0.0:1.0:0.0:0.0	.	707;849;783;706;784	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	D	784;706;707	ENSP00000366829:H784D;ENSP00000328848:H706D;ENSP00000329659:H707D	ENSP00000328848:H706D	H	+	1	0	RBM10	46929968	1.000000	0.71417	0.997000	0.53966	0.177000	0.22998	7.769000	0.85360	2.383000	0.81215	0.600000	0.82982	CAC		0.612	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1		NM_005676		4	3	0	0	0	0.014758	0	4	3		
FAM120C	54954	broad.mit.edu	37	X	54162953	54162953	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chrX:54162953G>C	ENST00000375180.2	-	5	1285	c.1229C>G	c.(1228-1230)tCt>tGt	p.S410C	FAM120C_ENST00000328235.4_Missense_Mutation_p.S410C	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	410							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TGGCAGCGAAGAGAGTTTGGT	0.463																																						uc004dsz.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1228-1230)TCT>TGT		hypothetical protein LOC54954							292.0	242.0	259.0					X																	54162953		2203	4300	6503	SO:0001583	missense	54954							g.chrX:54162953G>C	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.1229C>G	X.37:g.54162953G>C	ENSP00000364324:p.Ser410Cys					FAM120C_uc011moh.1_Missense_Mutation_p.S410C	p.S410C	NM_017848	NP_060318	Q9NX05	F120C_HUMAN			5	1312	-			410					B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	c.1229C>G	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.555983	0.45487	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.47869	0.83;0.83	4.62	2.69	0.31865	.	0.201255	0.40728	N	0.001027	T	0.38852	0.1056	N	0.08118	0	0.80722	D	1	D;D	0.63880	0.993;0.988	P;P	0.59424	0.857;0.717	T	0.31724	-0.9933	10	0.52906	T	0.07	-9.7689	8.063	0.30644	0.0:0.2732:0.5764:0.1504	.	410;410	F8W881;Q9NX05	.;F120C_HUMAN	C	410	ENSP00000364324:S410C;ENSP00000329896:S410C	ENSP00000329896:S410C	S	-	2	0	FAM120C	54179678	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	1.681000	0.37618	2.025000	0.59659	0.415000	0.27848	TCT		0.463	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2		NM_017848		15	45	0	0	0	0.00499	0	15	45		
ARMCX5	64860	broad.mit.edu	37	X	101857613	101857613	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chrX:101857613G>A	ENST00000604957.1	+	1	3166	c.544G>A	c.(544-546)Gta>Ata	p.V182I	ARMCX5_ENST00000372742.1_Missense_Mutation_p.V182I|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.V182I|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.V182I|ARMCX5_ENST00000537008.1_Missense_Mutation_p.V182I|ARMCX5_ENST00000536530.1_Missense_Mutation_p.V182I	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	182										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AGAGCCTAGTGTAGGGTCCTG	0.488																																						uc004ejg.2		NaN																	0				ovary(1)	1						c.(544-546)GTA>ATA		armadillo repeat containing, X-linked 5							120.0	122.0	122.0					X																	101857613		2203	4300	6503	SO:0001583	missense	64860						binding	g.chrX:101857613G>A		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.544G>A	X.37:g.101857613G>A	ENSP00000474720:p.Val182Ile					ARMCX5_uc004ejh.2_Missense_Mutation_p.V182I	p.V182I	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN			6	1425	+			182					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	c.544G>A	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	G	4.205	0.036779	0.08148	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	3.59	-1.64	0.08318	.	0.409870	0.18101	N	0.151663	T	0.06872	0.0175	L	0.29908	0.895	0.24748	N	0.992997	B	0.17038	0.02	B	0.08055	0.003	T	0.36261	-0.9755	10	0.07482	T	0.82	-1.8085	0.3261	0.00311	0.2244:0.1657:0.2683:0.3415	.	182	Q6P1M9	ARMX5_HUMAN	I	182	ENSP00000246174:V182I;ENSP00000439001:V182I;ENSP00000446385:V182I;ENSP00000445851:V182I;ENSP00000361827:V182I	ENSP00000246174:V182I	V	+	1	0	ARMCX5	101744269	.	.	0.964000	0.40570	0.417000	0.31264	.	.	-0.544000	0.06232	-0.225000	0.12378	GTA		0.488	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1		NM_022838		12	45	0	0	0	0.001855	0	12	45		
ESX1	80712	broad.mit.edu	37	X	103499060	103499060	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chrX:103499060G>A	ENST00000372588.4	-	2	364	c.281C>T	c.(280-282)cCg>cTg	p.P94L		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	94					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CTGTTGCTCCGGCTTGGTCAG	0.716																																					Pancreas(200;1705 2227 25194 28471 45274)	uc004ely.2		NaN																	0				ovary(1)	1						c.(280-282)CCG>CTG		extraembryonic, spermatogenesis, homeobox							54.0	63.0	60.0					X																	103499060		2192	4250	6442	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103499060G>A	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.281C>T	X.37:g.103499060G>A	ENSP00000361669:p.Pro94Leu						p.P94L	NM_153448	NP_703149	Q8N693	ESX1_HUMAN			2	339	-			94					B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.281C>T	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	g	11.55	1.671426	0.29693	.	.	ENSG00000123576	ENST00000372588	D	0.92199	-2.99	1.33	-0.972	0.10300	.	.	.	.	.	T	0.76786	0.4036	N	0.08118	0	0.09310	N	1	B	0.29232	0.238	B	0.11329	0.006	T	0.65026	-0.6268	9	0.32370	T	0.25	0.1327	2.5027	0.04638	0.1947:0.0:0.318:0.4874	.	94	Q8N693	ESX1_HUMAN	L	94	ENSP00000361669:P94L	ENSP00000361669:P94L	P	-	2	0	ESX1	103385716	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.198000	0.17217	-0.445000	0.07159	-0.583000	0.04132	CCG		0.716	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2		NM_153448		27	33	0	0	0	0.010818	0	27	33		
UROD	7389	broad.mit.edu	37	1	45479331	45479332	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr1:45479331_45479332delAG	ENST00000246337.4	+	5	461_462	c.342_343delAG	c.(340-345)gaagagfs	p.EE114fs	UROD_ENST00000494399.1_3'UTR|HECTD3_ENST00000372172.4_5'Flank	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	114					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					CATTAAGAGAAGAGCAGGACCT	0.559									Porphyria Cutanea Tarda, Type II																													uc001cna.1		NaN																	0					0						c.(340-345)GAAGAGfs		uroporphyrinogen decarboxylase																																				SO:0001589	frameshift_variant	7389	Porphyria_Cutanea_Tarda_Type_II	Familial Cancer Database	PCT-II		cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity	g.chr1:45479331_45479332delAG	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.342_343delAG	1.37:g.45479333_45479334delAG	ENSP00000246337:p.Glu114fs					HECTD3_uc009vxk.2_5'Flank|HECTD3_uc010olh.1_5'Flank|UROD_uc010oli.1_3'UTR|UROD_uc001cnb.1_Frame_Shift_Del_p.E79fs|UROD_uc010olj.1_Frame_Shift_Del_p.E58fs|UROD_uc001cnc.1_Frame_Shift_Del_p.E19fs	p.E114fs	NM_000374	NP_000365	P06132	DCUP_HUMAN			5	450_451	+	Acute lymphoblastic leukemia(166;0.155)		114_115					A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	Frame_Shift_Del	DEL	ENST00000246337.4	37	c.342_343delAG	CCDS518.1																																																																																				0.559	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024803.1		NM_000374		13	56	NaN	NaN	NaN	NaN	NaN	13	56	---	---
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCT	rs112207161	byFrequency	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:21805466_21805467insCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGG	c.(1285-1287)ggg>gAGGgg	p.428_429insE	SKIDA1_ENST00000487107.1_5'Flank|SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insE	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	347						nucleus (GO:0005634)		p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619																																						uc009xkd.2		NaN																	2	Insertion - In frame(2)		soft_tissue(2)	ovary(1)	1						c.(1285-1287)GGG>GAGGGG		hypothetical protein LOC387640				3173,56,18,597		1435,46,11,246,5,0,0,3,1,175						3.0	1.0		dbSNP_132	7	4189,51,27,3619		1322,36,14,1495,1,0,13,2,9,1051	no	codingComplex	C10orf140	NM_207371.3		2757,82,25,1741,6,0,13,5,10,1226	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		46.8805,17.4558,37.2379				7362,107,45,4216				SO:0001652	inframe_insertion	387640					nucleus	nucleotide binding	g.chr10:21805466_21805467insCCT	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1283_1285dupAGG	10.37:g.21805473_21805475dupCCT	ENSP00000410041:p.Glu428_Glu428dup					uc001iqp.1_RNA	p.428_429insE	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN			4	3538_3539	-			347_348			Ser-rich.|Glu-rich.		B1ANA5|Q6ZMX4|Q8N3C3	In_Frame_Ins	INS	ENST00000449193.2	37	c.1285_1286insAGG	CCDS44363.1																																																																																				0.619	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2		NM_207371		3	3	NaN	NaN	NaN	NaN	NaN	3	3	---	---
TYSND1	219743	broad.mit.edu	37	10	71905929	71905931	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:71905929_71905931delCAG	ENST00000287078.6	-	1	411_413	c.412_414delCTG	c.(412-414)ctgdel	p.L138del	TYSND1_ENST00000494143.1_5'Flank|TYSND1_ENST00000335494.5_In_Frame_Del_p.L138del	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	138					protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CCGGGCAGCTCAGCAGCAGCAGC	0.739																																						uc001jqr.2		NaN																	0				large_intestine(1)	1						c.(412-414)CTGdel		trypsin domain containing 1 isoform a			,	28,3524		5,18,1753					,	3.1	1.0			5	76,7040		14,48,3496	no	coding,coding	TYSND1	NM_173555.2,NM_001040273.1	,	19,66,5249	A1A1,A1R,RR		1.068,0.7883,0.9749	,	,		104,10564				SO:0001651	inframe_deletion	219743				proteolysis	peroxisome	serine-type endopeptidase activity	g.chr10:71905929_71905931delCAG	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.412_414delCTG	10.37:g.71905938_71905940delCAG	ENSP00000287078:p.Leu138del					TYSND1_uc001jqq.2_Intron|TYSND1_uc001jqs.2_In_Frame_Del_p.L138del|TYSND1_uc001jqt.2_Intron	p.L138del	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN			1	566_568	-			138					Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	In_Frame_Del	DEL	ENST00000287078.6	37	c.412_414delCTG	CCDS31213.1																																																																																				0.739	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1		NM_173555		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
PTEN	5728	broad.mit.edu	37	10	89720700	89720709	+	Frame_Shift_Del	DEL	AGGAAACCTC	AGGAAACCTC	-			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08			AGGAAACCTC	-	AGGAAACCTC	AGGAAACCTC		Valid	Somatic	Phase_I	WXS	Fluidigm_realigned			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr10:89720700_89720709delAGGAAACCTC	ENST00000371953.3	+	8	2208_2217	c.851_860delAGGAAACCTC	c.(850-861)gaggaaacctcafs	p.EETS284fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	284	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.S287fs*8(1)|p.S287fs*4(1)|p.W274_F341del(1)|p.S287fs*1(1)|p.S287*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCAGGACCAGAGGAAACCTCAGAAAAAGTA	0.3		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		54	Whole gene deletion(37)|Deletion - Frameshift(12)|Deletion - In frame(2)|Unknown(2)|Substitution - Nonsense(1)	p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.E284K(1)|p.G165_*404del(1)|p.S287fs*1(1)|p.G165_K342del(1)|p.E284*(1)|p.S287fs*8(1)|p.S287fs*4(1)|p.W274_F341del(1)|p.S287*(1)	prostate(16)|central_nervous_system(13)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(850-861)GAGGAAACCTCAfs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720700_89720709delAGGAAACCTC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.851_860delAGGAAACCTC	10.37:g.89720700_89720709delAGGAAACCTC	ENSP00000361021:p.Glu284fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.E284fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1882_1891	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	284_287			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.851_860delAGGAAACCTC	CCDS31238.1																																																																																				0.300	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1		NM_000314		13	33	NaN	NaN	NaN	NaN	NaN	13	33	---	---
C21orf58	54058	broad.mit.edu	37	21	47721985	47721986	+	In_Frame_Ins	INS	-	-	TGG	rs144178764|rs112899928|rs35902237|rs71318063	byFrequency	TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr21:47721985_47721986insTGG	ENST00000291691.7	-	8	2032_2033	c.896_897insCCA	c.(895-897)cat>caCCAt	p.299_299H>HH	C21orf58_ENST00000472607.1_5'UTR|C21orf58_ENST00000397679.1_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000397683.1_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000397680.1_In_Frame_Ins_p.193_193H>HH|C21orf58_ENST00000397682.3_In_Frame_Ins_p.193_193H>HH	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	299	Poly-His.							p.H299_A300insH(3)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		GCCACACAGCAtggtggtggtg	0.708														1382	0.275958	0.1384	0.4063	5008	,	,		16708	0.3046		0.3091	False		,,,				2504	0.3057					uc002zjf.2		NaN																	3	Insertion - In frame(3)		breast(2)|central_nervous_system(1)	pancreas(1)	1						c.(895-897)CAT>CACCAT		hypothetical protein LOC54058																																				SO:0001652	inframe_insertion	54058							g.chr21:47721985_47721986insTGG		CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.894_896dupCCA	21.37:g.47721992_47721994dupTGG	ENSP00000291691:p.His299dup					C21orf58_uc002ziz.2_Intron|C21orf58_uc002zja.2_In_Frame_Ins_p.193_193H>HH|C21orf58_uc011afw.1_In_Frame_Ins_p.216_216H>HH|C21orf58_uc002zjc.2_In_Frame_Ins_p.193_193H>HH|C21orf58_uc011afx.1_In_Frame_Ins_p.193_193H>HH|C21orf58_uc010gqj.1_RNA	p.299_299H>HH	NM_058180	NP_478060	P58505	CU058_HUMAN		Colorectal(79;0.239)	9	2030_2031	-	Breast(49;0.112)		299			Poly-His.		B3KPI1	In_Frame_Ins	INS	ENST00000291691.7	37	c.896_897insCCA	CCDS13735.1																																																																																				0.708	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207283.1		NM_058180		3	5	NaN	NaN	NaN	NaN	NaN	3	5	---	---
EIF4A2	1974	broad.mit.edu	37	3	186504931	186504932	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr3:186504931_186504932delAC	ENST00000323963.5	+	8	851_852	c.787_788delAC	c.(787-789)acafs	p.T263fs	SNORA81_ENST00000408493.2_RNA|SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000356531.5_Frame_Shift_Del_p.T168fs|SNORA4_ENST00000584302.1_RNA|RP11-573D15.9_ENST00000577781.1_RNA|SNORA63_ENST00000363450.1_RNA|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Frame_Shift_Del_p.T264fs			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	263	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GAAGTTGGATACACTTTGTGAC	0.416			T	BCL6	NHL																																	uc003fqs.2		NaN		Dom	yes		3	3q27.3	1974	T	"""eukaryotic translation initiation factor 4A, isoform 2"""			L	BCL6		NHL		0				ovary(2)|breast(2)	4						c.(787-789)ACAfs		eukaryotic translation initiation factor 4A2																																				SO:0001589	frameshift_variant	1974				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	g.chr3:186504931_186504932delAC	D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.787_788delAC	3.37:g.186504933_186504934delAC	ENSP00000326381:p.Thr263fs					EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Frame_Shift_Del_p.T264fs|EIF4A2_uc003fqv.2_Frame_Shift_Del_p.T168fs|EIF4A2_uc003fqw.2_Frame_Shift_Del_p.T168fs|EIF4A2_uc011bsb.1_Frame_Shift_Del_p.T136fs|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank	p.T263fs	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)	8	826_827	+	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		263			Helicase C-terminal.		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Frame_Shift_Del	DEL	ENST00000323963.5	37	c.787_788delAC	CCDS3282.1																																																																																				0.416	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1		NM_001967		56	178	NaN	NaN	NaN	NaN	NaN	56	178	---	---
KIFC1	3833	broad.mit.edu	37	6	33372709	33372709	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:33372709delG	ENST00000428849.2	+	7	1287	c.837delG	c.(835-837)cagfs	p.Q279fs		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	279					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CTGTGGCCCAGGCAGCCTTAC	0.587																																						uc003oef.3		NaN																	0					0						c.(835-837)CAGfs		kinesin family member C1							57.0	60.0	59.0					6																	33372709		2203	4300	6503	SO:0001589	frameshift_variant	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33372709delG	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.837delG	6.37:g.33372709delG	ENSP00000393963:p.Gln279fs					KIFC1_uc011drf.1_Frame_Shift_Del_p.Q271fs	p.Q279fs	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN			7	1287	+			279			Potential.		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Frame_Shift_Del	DEL	ENST00000428849.2	37	c.837delG	CCDS34430.1																																																																																				0.587	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1		NM_002263		10	80	NaN	NaN	NaN	NaN	NaN	10	80	---	---
CDKN1A	1026	broad.mit.edu	37	6	36652121	36652122	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08			-	C	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr6:36652121_36652122insC	ENST00000405375.1	+	2	478_479	c.243_244insC	c.(244-246)cccfs	p.P82fs	CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.P116fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.P82fs|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.P82fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	82					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						TTCCCACGGGGCCCCGGCGAGG	0.653																																						uc003omm.3		NaN																	0				ovary(1)|breast(1)	2						c.(241-246)GGGCCCfs		cyclin-dependent kinase inhibitor 1A																																				SO:0001589	frameshift_variant	1026	Multiple_Endocrine_Neoplasia_type_1			cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36652121_36652122insC	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.247dupC	6.37:g.36652125_36652125dupC	ENSP00000384849:p.Pro82fs					CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.G115fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.G81fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.G81fs	p.G81fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN			2	365_366	+			81_82					Q14010|Q6FI05|Q9BUT4	Frame_Shift_Ins	INS	ENST00000405375.1	37	c.243_244insC	CCDS4824.1																																																																																				0.653	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1		NM_078467		8	23	NaN	NaN	NaN	NaN	NaN	8	23	---	---
SGK3	23678	broad.mit.edu	37	8	67748054	67748054	+	Frame_Shift_Del	DEL	G	G	-	rs34561918		TCGA-DK-A3IN-01A-11D-A20D-08	TCGA-DK-A3IN-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	173c1518-6bcb-4e25-a119-de32dab91286	c919f230-5d67-44e2-b154-1839ec548f56	g.chr8:67748054delG	ENST00000396596.1	+	9	796	c.582delG	c.(580-582)cagfs	p.Q194fs	C8orf44-SGK3_ENST00000519289.1_Frame_Shift_Del_p.Q194fs|SGK3_ENST00000521198.2_Frame_Shift_Del_p.Q194fs|SGK3_ENST00000522398.1_Frame_Shift_Del_p.Q194fs|SGK3_ENST00000520976.1_Frame_Shift_Del_p.Q194fs|SGK3_ENST00000345714.4_Frame_Shift_Del_p.Q194fs	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	194	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AAGTGTTACAGAAAAAAATAG	0.289																																						uc003xwr.2		NaN																	0				ovary(1)|large_intestine(1)|lung(1)|breast(1)	4						c.(580-582)CAGfs		serum/glucocorticoid regulated kinase 3 isoform							45.0	51.0	49.0					8																	67748054		2200	4294	6494	SO:0001589	frameshift_variant	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67748054delG		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.582delG	8.37:g.67748054delG	ENSP00000379842:p.Gln194fs					SGK3_uc003xwp.2_Frame_Shift_Del_p.Q188fs|SGK3_uc003xwt.2_Frame_Shift_Del_p.Q194fs|SGK3_uc003xwu.2_Frame_Shift_Del_p.Q194fs	p.Q194fs	NM_001033578	NP_001028750	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		9	881	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	194			Protein kinase.		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Frame_Shift_Del	DEL	ENST00000396596.1	37	c.582delG	CCDS6195.1																																																																																				0.289	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3				19	48	NaN	NaN	NaN	NaN	NaN	19	48	---	---
