#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
MMP23B	8510	broad.mit.edu	37	1	1572548	1572548	+	IGR	SNP	C	C	G	rs373757691		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:1572548C>G	ENST00000356026.5	+	0	1326				CDK11B_ENST00000341832.6_Silent_p.L485L|CDK11B_ENST00000340677.5_Silent_p.L519L|CDK11B_ENST00000407249.3_Silent_p.L532L|CDK11B_ENST00000317673.7_Silent_p.L530L			O75900	MMP23_HUMAN	matrix metallopeptidase 23B						proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			large_intestine(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Marimastat(DB00786)	GCTGGATCATCAGGGTCTTCA	0.652																																						uc001agv.1		NaN																	0				skin(1)	1						c.(1585-1587)CTG>CTC		cell division cycle 2-like 1 (PITSLRE proteins)							73.0	87.0	83.0					1																	1572548		2127	4258	6385	SO:0001628	intergenic_variant	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1572548C>G		CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7171	protein-coding gene	gene with protein product	"""matrix metalloproteinase 22"", ""femalysin"", ""matrix metalloproteinase in the female reproductive tract"""	603321	"""matrix metalloproteinase 23B"""	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713		1.37:g.1572548C>G						CDK11B_uc009vkj.2_Silent_p.L186L|CDK11B_uc001ags.1_Silent_p.L387L|CDK11B_uc001agt.1_Silent_p.L312L|CDK11B_uc001aha.1_Silent_p.L495L|CDK11B_uc001agw.1_Silent_p.L484L|CDK11B_uc001agy.1_Silent_p.L527L|CDK11B_uc001agx.1_Silent_p.L518L|CDK11B_uc001agz.1_Silent_p.L273L	p.L529L	NM_033486	NP_277021	P21127	CD11B_HUMAN			19	1698	-			542			Protein kinase.		A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Silent	SNP	ENST00000356026.5	37	c.1587G>C	CCDS30559.1																																																																																				0.652	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158492.2		NM_006983		6	88	0	0	0	1	0	6	88		
CDK11A	728642	broad.mit.edu	37	1	1635767	1635767	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:1635767C>G	ENST00000378633.1	-	15	1669	c.1590G>C	c.(1588-1590)ctG>ctC	p.L530L	CDK11A_ENST00000356200.3_Silent_p.L493L|CDK11A_ENST00000495016.1_5'UTR|CDK11A_ENST00000358779.5_Silent_p.L517L|CDK11A_ENST00000357760.2_Silent_p.L526L|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378638.2_Silent_p.L493L|CDK11A_ENST00000404249.3_Silent_p.L527L			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	530	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GCTGGATCATCAGGGTCTTCA	0.672																																					Pancreas(186;965 2119 30274 40311 50569)	uc009vks.2		NaN																	0				stomach(1)	1						c.(1579-1581)CTG>CTC		cell division cycle 2-like 2 isoform 1							48.0	53.0	51.0					1																	1635767		1993	4146	6139	SO:0001819	synonymous_variant	728642				apoptosis|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1635767C>G	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.1590G>C	1.37:g.1635767C>G						CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc001ahj.3_Silent_p.L34L|CDK11A_uc009vkp.2_Silent_p.L144L|CDK11A_uc009vkq.2_RNA|CDK11A_uc009vkr.2_Silent_p.L517L|CDK11A_uc010nys.1_3'UTR	p.L527L	NM_024011	NP_076916	Q9UQ88	CD11A_HUMAN			15	1689	-			530			Protein kinase.		O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Silent	SNP	ENST00000378633.1	37	c.1581G>C																																																																																					0.672	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1		NM_024011		10	36	0	0	0	1	0	10	36		
MEGF6	1953	broad.mit.edu	37	1	3511904	3511904	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:3511904G>C	ENST00000356575.4	-	3	600	c.374C>G	c.(373-375)tCg>tGg	p.S125W		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	125	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.|EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCACTCACCCGAGAGGCAGCC	0.682																																					Ovarian(73;978 3658)	uc001akl.2		NaN																	0				large_intestine(1)	1						c.(373-375)TCG>TGG		EGF-like-domain, multiple 3 precursor							21.0	27.0	26.0					1																	3511904		1872	3970	5842	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3511904G>C	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.374C>G	1.37:g.3511904G>C	ENSP00000348982:p.Ser125Trp						p.S125W	NM_001409	NP_001400	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	3	601	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	125			EGF-like 1.|EMI.		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.374C>G	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	g	13.77	2.335449	0.41398	.	.	ENSG00000162591	ENST00000356575	D	0.85702	-2.02	3.92	2.89	0.33648	EMI domain (1);Epidermal growth factor-like, type 3 (1);	0.362500	0.25349	U	0.031313	D	0.84061	0.5389	L	0.51422	1.61	0.47511	D	0.999443	D	0.64830	0.994	P	0.52856	0.711	D	0.83584	0.0119	10	0.54805	T	0.06	1.3303	7.9735	0.30140	0.0:0.0:0.7561:0.2439	.	125	O75095	MEGF6_HUMAN	W	125	ENSP00000348982:S125W	ENSP00000348982:S125W	S	-	2	0	MEGF6	3501764	0.999000	0.42202	0.963000	0.40424	0.512000	0.34134	5.498000	0.66931	2.126000	0.65437	0.486000	0.48141	TCG		0.682	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1		NM_001409		40	39	0	0	0	1	0	40	39		
KIF1B	23095	broad.mit.edu	37	1	10342591	10342591	+	Splice_Site	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:10342591G>A	ENST00000377086.1	+	15	1636	c.1434G>A	c.(1432-1434)aaG>aaA	p.K478K	KIF1B_ENST00000377093.4_Splice_Site_p.K432K|KIF1B_ENST00000263934.6_Splice_Site_p.K432K|KIF1B_ENST00000377083.1_Splice_Site_p.K432K|KIF1B_ENST00000377081.1_Splice_Site_p.K478K			O60333	KIF1B_HUMAN	kinesin family member 1B	478					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AACGTTTAAAGGTAAGTAATA	0.423																																						uc001aqx.3		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1432-1434)AAG>AAA		kinesin family member 1B isoform b							120.0	113.0	116.0					1																	10342591		2203	4300	6503	SO:0001630	splice_region_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10342591G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.1434+1G>A	1.37:g.10342591G>A						KIF1B_uc001aqv.3_Silent_p.K432K|KIF1B_uc001aqw.3_Silent_p.K432K|KIF1B_uc001aqy.2_Silent_p.K452K|KIF1B_uc001aqz.2_Silent_p.K478K|KIF1B_uc001ara.2_Silent_p.K438K|KIF1B_uc001arb.2_Silent_p.K464K	p.K478K	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	15	1636	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	478			Potential.		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37	c.1434G>A																																																																																					0.423	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			Silent	41	89	0	0	0	1	0	41	89		
FBXO2	26232	broad.mit.edu	37	1	11708844	11708844	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:11708844G>A	ENST00000354287.4	-	6	1139	c.798C>T	c.(796-798)ttC>ttT	p.F266F	FBXO2_ENST00000475961.1_5'Flank	NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	266	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				cellular protein modification process (GO:0006464)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of protein ubiquitination (GO:0031396)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|SCF ubiquitin ligase complex (GO:0019005)	beta-amyloid binding (GO:0001540)|carbohydrate binding (GO:0030246)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		CGAAGCGGACGAAGCGGACGC	0.677																																						uc001asj.2		NaN																	0					0						c.(796-798)TTC>TTT		F-box only protein 2							56.0	64.0	61.0					1																	11708844		2203	4300	6503	SO:0001819	synonymous_variant	26232				glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex	sugar binding|ubiquitin-protein ligase activity	g.chr1:11708844G>A	AF174594	CCDS130.1	1p36.21	2010-04-21	2004-06-15		ENSG00000116661	ENSG00000116661		"""F-boxes /  ""other"""""	13581	protein-coding gene	gene with protein product		607112	"""F-box only protein 2"", ""organ of Corti protein 1"""	OCP1		10531035, 10531037	Standard	NM_012168		Approved	FBX2, Nfb42, Fbs1, Fbg1	uc001asj.3	Q9UK22	OTTHUMG00000002072	ENST00000354287.4:c.798C>T	1.37:g.11708844G>A						FBXO2_uc009vna.2_Silent_p.F269F	p.F266F	NM_012168	NP_036300	Q9UK22	FBX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)	6	1140	-	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	266			FBA.		B2R7K7|Q5TGY0|Q6FGJ7|Q8TB29|Q9UKC6	Silent	SNP	ENST00000354287.4	37	c.798C>T	CCDS130.1																																																																																				0.677	FBXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005764.1		NM_012168		137	103	0	0	0	1	0	137	103		
VPS13D	55187	broad.mit.edu	37	1	12337497	12337497	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:12337497C>G	ENST00000358136.3	+	19	3982	c.3852C>G	c.(3850-3852)ctC>ctG	p.L1284L	VPS13D_ENST00000356315.4_Silent_p.L1284L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGTGTTTTCTCAACCTGAAGA	0.398																																						uc001atv.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(3850-3852)CTC>CTG		vacuolar protein sorting 13D isoform 1							126.0	130.0	128.0					1																	12337497		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12337497C>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.3852C>G	1.37:g.12337497C>G						VPS13D_uc001atw.2_Silent_p.L1284L|VPS13D_uc001atx.2_Silent_p.L472L	p.L1284L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	19	3993	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	1284						Silent	SNP	ENST00000358136.3	37	c.3852C>G	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	C	2.659	-0.280185	0.05642	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.91	2.52	0.30459	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6942	0.28585	0.0:0.662:0.1266:0.2114	.	.	.	.	X	107	.	.	S	+	2	0	VPS13D	12260084	0.479000	0.25925	0.997000	0.53966	0.996000	0.88848	-0.072000	0.11486	0.800000	0.34041	0.655000	0.94253	TCA		0.398	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378		125	134	0	0	0	1	0	125	134		
UBR4	23352	broad.mit.edu	37	1	19477120	19477120	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:19477120C>T	ENST00000375254.3	-	49	7408	c.7381G>A	c.(7381-7383)Gat>Aat	p.D2461N	UBR4_ENST00000375217.2_Missense_Mutation_p.D2461N|UBR4_ENST00000375226.2_Missense_Mutation_p.D2461N|UBR4_ENST00000375267.2_Missense_Mutation_p.D2461N	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2461					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GAGTCGCTATCTCCAGTGCCG	0.547																																						uc001bbi.2		NaN																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(7381-7383)GAT>AAT		retinoblastoma-associated factor 600							128.0	126.0	126.0					1																	19477120		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19477120C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7381G>A	1.37:g.19477120C>T	ENSP00000364403:p.Asp2461Asn					UBR4_uc001bbk.1_Missense_Mutation_p.D115N	p.D2461N	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	49	7385	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2461					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.7381G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166892	0.57476	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.23147	1.92;1.92;1.92;1.94	5.9	5.9	0.94986	.	0.292421	0.37136	N	0.002236	T	0.18841	0.0452	N	0.19112	0.55	0.80722	D	1	B	0.26635	0.155	B	0.23018	0.043	T	0.06409	-1.0828	10	0.19590	T	0.45	.	18.4573	0.90725	0.0:1.0:0.0:0.0	.	2461	Q5T4S7	UBR4_HUMAN	N	2461;2461;2461;2461;76;1171	ENSP00000364403:D2461N;ENSP00000364416:D2461N;ENSP00000364365:D2461N;ENSP00000364374:D2461N	ENSP00000364365:D2461N	D	-	1	0	UBR4	19349707	1.000000	0.71417	0.998000	0.56505	0.649000	0.38597	7.487000	0.81328	2.808000	0.96608	0.650000	0.86243	GAT		0.547	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765		203	205	0	0	0	1	0	203	205		
LDLRAD2	401944	broad.mit.edu	37	1	22141309	22141309	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:22141309C>T	ENST00000344642.2	+	2	691	c.504C>T	c.(502-504)ttC>ttT	p.F168F	LDLRAD2_ENST00000543870.1_Silent_p.F168F	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	168						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		TCACCTCTTTCCGTCTGGGTG	0.711																																						uc001bfg.1		NaN																	0					0						c.(502-504)TTC>TTT		low density lipoprotein receptor class A domain							5.0	5.0	5.0					1																	22141309		1963	3856	5819	SO:0001819	synonymous_variant	401944					integral to membrane	receptor activity	g.chr1:22141309C>T	AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942			32071	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 2"""				Standard	NM_001013693		Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.504C>T	1.37:g.22141309C>T							p.F168F	NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	2	691	+		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	168			Extracellular (Potential).		B9EJB3|Q6ZSN5	Silent	SNP	ENST00000344642.2	37	c.504C>T	CCDS30624.1																																																																																				0.711	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007601.1		NM_001013693		8	9	0	0	0	1	0	8	9		
ZNF436	80818	broad.mit.edu	37	1	23695890	23695890	+	5'UTR	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:23695890C>T	ENST00000314011.4	-	0	45				ZNF436_ENST00000374608.3_5'Flank|C1orf213_ENST00000437367.2_Missense_Mutation_p.R34C|Y_RNA_ENST00000364535.1_RNA|C1orf213_ENST00000458053.1_Intron|C1orf213_ENST00000454117.1_Missense_Mutation_p.R34C|C1orf213_ENST00000335648.3_Missense_Mutation_p.R34C|C1orf213_ENST00000518821.1_Intron	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ACTAGATCGTCGTCTCCAAAA	0.572																																						uc001bgw.2		NaN																	0					0						c.(100-102)CGT>TGT		hypothetical protein LOC148898 isoform 1							43.0	50.0	48.0					1																	23695890		2203	4300	6503	SO:0001623	5_prime_UTR_variant	148898							g.chr1:23695890C>T	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.-92G>A	1.37:g.23695890C>T						ZNF436_uc001bgt.2_5'Flank|ZNF436_uc001bgu.2_5'UTR|C1orf213_uc001bgv.2_Missense_Mutation_p.R34C	p.R34C	NM_138479	NP_612488				UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	1	427	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)						Q658I9	Missense_Mutation	SNP	ENST00000314011.4	37	c.100C>T	CCDS233.1	.	.	.	.	.	.	.	.	.	.	C	3.165	-0.171338	0.06421	.	.	ENSG00000249087	ENST00000454117;ENST00000335648;ENST00000437367	.	.	.	3.57	-7.13	0.01532	.	.	.	.	.	T	0.35451	0.0932	.	.	.	0.09310	N	1	D;D	0.76494	0.996;0.999	P;P	0.54924	0.649;0.764	T	0.26916	-1.0089	7	0.87932	D	0	.	1.9863	0.03437	0.1232:0.1727:0.2441:0.4601	.	34;34	Q8NC38;E5RFN3	CA213_HUMAN;.	C	34	.	ENSP00000441287:R34C	R	+	1	0	C1orf213	23568477	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.568000	0.05909	-1.840000	0.01184	-0.482000	0.04802	CGT		0.572	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1		NM_030634		34	47	0	0	0	1	0	34	47		
ARID1A	8289	broad.mit.edu	37	1	27106492	27106492	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:27106492G>T	ENST00000324856.7	+	20	6474	c.6103G>T	c.(6103-6105)Gag>Tag	p.E2035*	ARID1A_ENST00000540690.1_Nonsense_Mutation_p.E363*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.E1818*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1652*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2035					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)		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)		TGAAAAGGAGGAGGAACAGGA	0.557			"""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		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(6103-6105)GAG>TAG		AT rich interactive domain 1A isoform a							142.0	136.0	138.0					1																	27106492		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.chr1:27106492G>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.6103G>T	1.37:g.27106492G>T	ENSP00000320485:p.Glu2035*					ARID1A_uc001bmu.1_Nonsense_Mutation_p.E1818*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.E881*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.E363*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.E277*	p.E2035*	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)	20	6476	+		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)	2035					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.6103G>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.419630|10.419630	0.99402|0.99402	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	.|.	.|.	.|.	5.0|5.0	4.09|4.09	0.47781|0.47781	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.69396	.|0.3106	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69213	.|-0.5204	.|4	0.54805|.	T|.	0.06|.	-8.4613|-8.4613	14.0131|14.0131	0.64509|0.64509	0.0734:0.0:0.9266:0.0|0.0734:0.0:0.9266:0.0	.|.	.|.	.|.	.|.	X|V	2035;1818;1652;363|931	.|.	ENSP00000320485:E2035X|.	E|G	+|+	1|2	0|0	ARID1A|ARID1A	26979079|26979079	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.020000|9.020000	0.93667|0.93667	1.472000|1.472000	0.48140|0.48140	0.591000|0.591000	0.81541|0.81541	GAG|GGA		0.557	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		54	100	1	0	2.47907e-22	1	2.60217e-22	54	100		
SFN	2810	broad.mit.edu	37	1	27189727	27189727	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:27189727G>A	ENST00000339276.4	+	1	95	c.24G>A	c.(22-24)caG>caA	p.Q8Q		NM_006142.3	NP_006133.1	Q9Y3B8	ORN_HUMAN	stratifin	0					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GTCTGATCCAGAAGGCCAAGC	0.627																																						uc001bnc.1		NaN																	0					0						c.(22-24)CAG>CAA		stratifin							52.0	57.0	55.0					1																	27189727		2203	4300	6503	SO:0001819	synonymous_variant	2810				DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity	g.chr1:27189727G>A	BC023552	CCDS288.1	1p36.11	2008-02-05			ENSG00000175793	ENSG00000175793			10773	protein-coding gene	gene with protein product	"""14-3-3 sigma"""	601290				8515476	Standard	NM_006142		Approved	YWHAS	uc001bnc.1	P31947	OTTHUMG00000004093	ENST00000339276.4:c.24G>A	1.37:g.27189727G>A							p.Q8Q	NM_006142	NP_006133	P31947	1433S_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)	1	95	+		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	8					B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Silent	SNP	ENST00000339276.4	37	c.24G>A	CCDS288.1																																																																																				0.627	SFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011709.1		NM_006142		76	85	0	0	0	1	0	76	85		
SDC3	9672	broad.mit.edu	37	1	31347175	31347175	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:31347175C>T	ENST00000339394.6	-	4	1305	c.1131G>A	c.(1129-1131)aaG>aaA	p.K377K	SDC3_ENST00000336798.7_Silent_p.K319K|SDC3_ENST00000471567.1_5'Flank	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	377					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGATACTCTTCTGAGGCA	0.652																																						uc001bse.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1129-1131)AAG>AAA		syndecan 3							34.0	38.0	37.0					1																	31347175		2203	4300	6503	SO:0001819	synonymous_variant	9672					integral to membrane	cytoskeletal protein binding	g.chr1:31347175C>T	AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"""Proteoglycans / Cell Surface : Syndecans"""	10660	protein-coding gene	gene with protein product	"""syndecan proteoglycan 3"""	186357	"""syndecan 3 (N-syndecan)"""			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.1131G>A	1.37:g.31347175C>T						SDC3_uc001bsd.2_Silent_p.K319K	p.K377K	NM_014654	NP_055469	O75056	SDC3_HUMAN		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)	4	1178	-		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)	377			Extracellular (Potential).		Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Silent	SNP	ENST00000339394.6	37	c.1131G>A	CCDS30661.1																																																																																				0.652	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102017.1		NM_014654		38	46	0	0	0	1	0	38	46		
TMEM54	113452	broad.mit.edu	37	1	33363913	33363913	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:33363913C>G	ENST00000373463.3	-	2	143	c.24G>C	c.(22-24)ctG>ctC	p.L8L	TMEM54_ENST00000329151.5_Silent_p.L8L|TMEM54_ENST00000475208.1_5'UTR	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	8						integral component of membrane (GO:0016021)		p.L8L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CGCCCACACTCAGGCCTCCTG	0.617																																						uc001bwi.1		NaN																	1	Substitution - coding silent(1)		lung(1)		0						c.(22-24)CTG>CTC		transmembrane protein 54							60.0	56.0	58.0					1																	33363913		2203	4300	6503	SO:0001819	synonymous_variant	113452					integral to membrane		g.chr1:33363913C>G		CCDS371.1	1p35-p34	2008-02-05			ENSG00000121900	ENSG00000121900			24143	protein-coding gene	gene with protein product						9500206	Standard	NM_033504		Approved	CAC-1	uc001bwi.1	Q969K7	OTTHUMG00000004016	ENST00000373463.3:c.24G>C	1.37:g.33363913C>G						TMEM54_uc001bwj.1_Silent_p.L8L|TMEM54_uc001bwk.1_Silent_p.L8L	p.L8L	NM_033504	NP_277039	Q969K7	TMM54_HUMAN			2	138	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	8					Q6UV18|Q8IVD0|Q9UM12	Silent	SNP	ENST00000373463.3	37	c.24G>C	CCDS371.1																																																																																				0.617	TMEM54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011474.1		NM_033504		44	55	0	0	0	1	0	44	55		
CSMD2	114784	broad.mit.edu	37	1	33987087	33987087	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:33987087C>G	ENST00000373381.4	-	68	10749	c.10573G>C	c.(10573-10575)Ggg>Cgg	p.G3525R		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3381						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCGAACTGCCCAAAGCCTTGG	0.602																																						uc001bxn.1		NaN																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(10141-10143)GGG>CGG		CUB and Sushi multiple domains 2							97.0	90.0	92.0					1																	33987087		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:33987087C>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.10573G>C	1.37:g.33987087C>G	ENSP00000362479:p.Gly3525Arg					CSMD2_uc001bxm.1_Missense_Mutation_p.G3525R	p.G3381R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			67	10170	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3381			Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.10141G>C		.	.	.	.	.	.	.	.	.	.	C	26.8	4.770856	0.90108	.	.	ENSG00000121904	ENST00000373381	T	0.37915	1.17	5.89	5.89	0.94794	.	0.056024	0.64402	D	0.000001	T	0.64114	0.2569	M	0.78637	2.42	0.80722	D	1	D;B	0.89917	1.0;0.104	D;B	0.78314	0.991;0.065	T	0.65911	-0.6053	10	0.87932	D	0	.	19.2499	0.93919	0.0:1.0:0.0:0.0	.	3381;3525	Q7Z408;E7EUA6	CSMD2_HUMAN;.	R	3525	ENSP00000362479:G3525R	ENSP00000241312:G3381R	G	-	1	0	CSMD2	33759674	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	5.770000	0.68873	2.793000	0.96121	0.655000	0.94253	GGG		0.602	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_052896		37	69	0	0	0	1	0	37	69		
ZMYM6	9204	broad.mit.edu	37	1	35485180	35485180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:35485180G>A	ENST00000357182.4	-	4	429	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000373333.1_Nonsense_Mutation_p.Q68*|ZMYM6_ENST00000487874.1_Nonsense_Mutation_p.Q68*|ZMYM6_ENST00000317538.5_Nonsense_Mutation_p.Q68*|ZMYM6_ENST00000373340.2_Nonsense_Mutation_p.Q68*	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	68					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AAAGAAAGCTGAAAGCCTGGG	0.368																																						uc001byh.2		NaN																	0				ovary(3)	3						c.(202-204)CAG>TAG		zinc finger protein 258							49.0	48.0	48.0					1																	35485180		2203	4300	6503	SO:0001587	stop_gained	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35485180G>A	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.202C>T	1.37:g.35485180G>A	ENSP00000349708:p.Gln68*					ZMYM6_uc001byf.1_Nonsense_Mutation_p.Q68*|ZMYM6_uc010oht.1_5'UTR|ZMYM6_uc009vup.2_Intron|ZMYM6_uc009vuq.1_Nonsense_Mutation_p.Q68*|ZMYM6_uc009vur.1_Intron|ZMYM6_uc001byj.2_Nonsense_Mutation_p.Q68*|ZMYM6_uc001byi.2_Nonsense_Mutation_p.Q68*|ZMYM6_uc001byk.2_Nonsense_Mutation_p.Q68*	p.Q68*	NM_007167	NP_009098	O95789	ZMYM6_HUMAN			4	430	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	68					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Nonsense_Mutation	SNP	ENST00000357182.4	37	c.202C>T	CCDS387.2	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809586	0.70797	.	.	ENSG00000163867	ENST00000373340;ENST00000357182;ENST00000415531;ENST00000317538;ENST00000373333	.	.	.	5.15	4.24	0.50183	.	0.182174	0.38548	N	0.001642	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-8.2508	14.0505	0.64732	0.0726:0.0:0.9274:0.0	.	.	.	.	X	68	.	ENSP00000326695:Q68X	Q	-	1	0	ZMYM6	35257767	1.000000	0.71417	0.929000	0.37066	0.371000	0.29859	5.459000	0.66685	1.542000	0.49330	0.585000	0.79938	CAG		0.368	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1		NM_007167		22	39	0	0	0	1	0	22	39		
CLSPN	63967	broad.mit.edu	37	1	36211080	36211080	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:36211080G>C	ENST00000318121.3	-	16	2995	c.2938C>G	c.(2938-2940)Ctt>Gtt	p.L980V	CLSPN_ENST00000520551.1_Missense_Mutation_p.L927V|CLSPN_ENST00000373220.3_Missense_Mutation_p.L916V|CLSPN_ENST00000251195.5_Missense_Mutation_p.L980V|RP11-435D7.3_ENST00000373226.2_RNA	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	980					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCTGAGCAAAGAGCAAGTGCT	0.438																																						uc001bzi.2		NaN																	0				breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8						c.(2938-2940)CTT>GTT		claspin							146.0	128.0	134.0					1																	36211080		2203	4300	6503	SO:0001583	missense	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36211080G>C	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.2938C>G	1.37:g.36211080G>C	ENSP00000312995:p.Leu980Val					CLSPN_uc009vux.2_Missense_Mutation_p.L916V	p.L980V	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN			16	3018	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	980			CKB motif 3.		A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	c.2938C>G	CCDS396.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100534	0.76983	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	T;T;T;T	0.27557	1.66;1.67;1.71;1.69	5.65	5.65	0.86999	.	0.124595	0.53938	D	0.000046	T	0.56426	0.1984	M	0.70275	2.135	0.50632	D	0.999889	D;D	0.76494	0.998;0.999	D;D	0.71656	0.964;0.974	T	0.56697	-0.7936	10	0.72032	D	0.01	-9.6231	18.2859	0.90114	0.0:0.0:1.0:0.0	.	916;980	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	V	980;980;916;927	ENSP00000251195:L980V;ENSP00000312995:L980V;ENSP00000362317:L916V;ENSP00000428848:L927V	ENSP00000251195:L980V	L	-	1	0	CLSPN	35983667	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.338000	0.72963	2.827000	0.97445	0.650000	0.86243	CTT		0.438	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1		NM_022111		30	42	0	0	0	1	0	30	42		
MANEAL	149175	broad.mit.edu	37	1	38265658	38265658	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:38265658C>T	ENST00000373045.6	+	4	1538	c.1157C>T	c.(1156-1158)aCg>aTg	p.T386M	MANEAL_ENST00000329006.5_Missense_Mutation_p.T164M|MANEAL_ENST00000397631.3_3'UTR|RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000525897.1_Missense_Mutation_p.T192M	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	386						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TACTATGAGACGGCCCTGCAG	0.567																																						uc001cby.2		NaN																	0					0						c.(1156-1158)ACG>ATG		mannosidase, endo-alpha-like isoform 3							76.0	84.0	81.0					1																	38265658		2203	4300	6503	SO:0001583	missense	149175					Golgi membrane|integral to membrane	hydrolase activity	g.chr1:38265658C>T	AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.1157C>T	1.37:g.38265658C>T	ENSP00000362136:p.Thr386Met					MANEAL_uc001cbx.2_3'UTR|MANEAL_uc001cbz.2_Missense_Mutation_p.T164M	p.T386M	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN			4	1238	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	386			Lumenal (Potential).		Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Missense_Mutation	SNP	ENST00000373045.6	37	c.1157C>T	CCDS44110.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566612	0.65651	.	.	ENSG00000185090	ENST00000373045;ENST00000525897;ENST00000329006	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.57621	0.2066	M	0.76838	2.35	0.80722	D	1	B;P	0.43314	0.281;0.803	B;B	0.32677	0.014;0.15	T	0.65582	-0.6133	9	0.48119	T	0.1	-11.0172	18.2155	0.89884	0.0:1.0:0.0:0.0	.	164;386	Q5VSG8-2;Q5VSG8	.;MANEL_HUMAN	M	386;192;164	.	ENSP00000328770:T164M	T	+	2	0	MANEAL	38038245	1.000000	0.71417	0.990000	0.47175	0.970000	0.65996	7.394000	0.79862	2.662000	0.90505	0.655000	0.94253	ACG		0.567	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012469.2		NM_152496		47	60	0	0	0	1	0	47	60		
TESK2	10420	broad.mit.edu	37	1	45811074	45811074	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:45811074G>C	ENST00000372086.3	-	11	1554	c.1154C>G	c.(1153-1155)cCa>cGa	p.P385R	TESK2_ENST00000372084.1_Missense_Mutation_p.P356R|TESK2_ENST00000341771.6_Missense_Mutation_p.P356R|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000538496.1_Missense_Mutation_p.P302R	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	385					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					CCGGTAGTATGGGTCCAAGAC	0.557																																						uc001cns.1		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(1153-1155)CCA>CGA		testis-specific protein kinase 2							53.0	54.0	54.0					1																	45811074		1982	4149	6131	SO:0001583	missense	10420				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:45811074G>C	AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.1154C>G	1.37:g.45811074G>C	ENSP00000361158:p.Pro385Arg					TESK2_uc009vxr.1_Missense_Mutation_p.P356R|TESK2_uc010olo.1_Missense_Mutation_p.P302R|TESK2_uc009vxs.1_Missense_Mutation_p.P177R	p.P385R	NM_007170	NP_009101	Q96S53	TESK2_HUMAN			11	1557	-	Acute lymphoblastic leukemia(166;0.155)		385					Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	ENST00000372086.3	37	c.1154C>G	CCDS41323.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569683	0.65765	.	.	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000538496	T;T;T;T	0.80653	-1.17;-1.16;-1.17;-1.4	6.17	6.17	0.99709	.	0.164099	0.44097	D	0.000482	D	0.89966	0.6868	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.927	D	0.89441	0.3723	10	0.87932	D	0	-15.7916	20.8794	0.99867	0.0:0.0:1.0:0.0	.	356;385	Q96S53-3;Q96S53	.;TESK2_HUMAN	R	356;385;369;356;302	ENSP00000361156:P356R;ENSP00000361158:P385R;ENSP00000343940:P356R;ENSP00000441746:P302R	ENSP00000343940:P356R	P	-	2	0	TESK2	45583661	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.321000	0.79088	2.941000	0.99782	0.655000	0.94253	CCA		0.557	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1		NM_007170		55	48	0	0	0	1	0	55	48		
IPP	3652	broad.mit.edu	37	1	46212053	46212053	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:46212053C>T	ENST00000396478.3	-	2	133	c.31G>A	c.(31-33)Gat>Aat	p.D11N		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	11						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					AAAGGACTATCAGCAGCCTTG	0.408																																						uc001cou.2		NaN																	0				ovary(1)	1						c.(31-33)GAT>AAT		intracisternal A particle-promoted polypeptide							102.0	95.0	98.0					1																	46212053		2203	4300	6503	SO:0001583	missense	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46212053C>T	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.31G>A	1.37:g.46212053C>T	ENSP00000379739:p.Asp11Asn					IPP_uc001cos.3_Missense_Mutation_p.D11N	p.D11N	NM_005897	NP_005888	Q9Y573	IPP_HUMAN			2	298	-	Acute lymphoblastic leukemia(166;0.155)		11					A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	c.31G>A	CCDS30702.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141343	0.37825	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	T;T	0.74002	-0.62;-0.8	5.5	5.5	0.81552	BTB/POZ fold (1);	1.331760	0.04484	N	0.378361	T	0.67795	0.2931	L	0.48218	1.51	0.09310	N	0.999997	B;P	0.34462	0.002;0.454	B;B	0.27380	0.001;0.079	T	0.54417	-0.8297	10	0.23302	T	0.38	.	9.9043	0.41366	0.0:0.7868:0.1398:0.0734	.	11;11	Q9Y573;A2A6V3	IPP_HUMAN;.	N	11	ENSP00000353024:D11N;ENSP00000379739:D11N	ENSP00000353024:D11N	D	-	1	0	IPP	45984640	0.859000	0.29813	0.980000	0.43619	0.473000	0.32948	1.524000	0.35942	2.555000	0.86185	0.655000	0.94253	GAT		0.408	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3		NM_005897		48	118	0	0	0	1	0	48	118		
LRRC41	10489	broad.mit.edu	37	1	46751935	46751935	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:46751935G>C	ENST00000343304.6	-	4	879	c.594C>G	c.(592-594)ctC>ctG	p.L198L	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	198					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGCGGAACTTGAGAGTGTGCA	0.592																																						uc001cpn.2		NaN																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(592-594)CTC>CTG		MUF1 protein							54.0	55.0	55.0					1																	46751935		2203	4300	6503	SO:0001819	synonymous_variant	10489							g.chr1:46751935G>C	AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.594C>G	1.37:g.46751935G>C						LRRC41_uc010omb.1_Silent_p.L198L|LRRC41_uc001cpo.1_Silent_p.L198L	p.L198L	NM_006369	NP_006360	Q15345	LRC41_HUMAN			4	638	-	Acute lymphoblastic leukemia(166;0.155)		198					A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Silent	SNP	ENST00000343304.6	37	c.594C>G	CCDS533.1																																																																																				0.592	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1		NM_006369		40	45	0	0	0	1	0	40	45		
HOOK1	51361	broad.mit.edu	37	1	60297859	60297859	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:60297859C>T	ENST00000371208.3	+	4	504	c.247C>T	c.(247-249)Caa>Taa	p.Q83*	HOOK1_ENST00000395561.2_Nonsense_Mutation_p.Q41*|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	83	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GAAGGTCCTTCAAGGAATTAT	0.289																																						uc009wad.2		NaN																	0				ovary(1)|breast(1)	2						c.(247-249)CAA>TAA		hook homolog 1							87.0	92.0	91.0					1																	60297859		2202	4277	6479	SO:0001587	stop_gained	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60297859C>T	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.247C>T	1.37:g.60297859C>T	ENSP00000360252:p.Gln83*					HOOK1_uc001czo.2_Nonsense_Mutation_p.Q83*|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Nonsense_Mutation_p.Q41*	p.Q83*	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN			5	349	+	all_cancers(7;0.000129)		83			Sufficient for interaction with microtubules.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Nonsense_Mutation	SNP	ENST00000371208.3	37	c.247C>T	CCDS612.1	.	.	.	.	.	.	.	.	.	.	C	37	6.500834	0.97616	.	.	ENSG00000134709	ENST00000455990;ENST00000371208;ENST00000395561	.	.	.	5.87	5.87	0.94306	.	0.050882	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7885	0.96447	0.0:1.0:0.0:0.0	.	.	.	.	X	83;83;41	.	ENSP00000360252:Q83X	Q	+	1	0	HOOK1	60070447	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	5.936000	0.70153	2.779000	0.95612	0.591000	0.81541	CAA		0.289	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1		NM_015888		56	85	0	0	0	1	0	56	85		
IFI44L	10964	broad.mit.edu	37	1	79093672	79093672	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:79093672G>C	ENST00000370751.5	+	2	251	c.72G>C	c.(70-72)ttG>ttC	p.L24F	IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	24					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ATGTTTCTTTGAGTCTTCTCT	0.363																																						uc010oro.1		NaN																	0					0						c.(70-72)TTG>TTC		interferon-induced protein 44-like							59.0	62.0	61.0					1																	79093672		2202	4300	6502	SO:0001583	missense	10964					cytoplasm		g.chr1:79093672G>C	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.72G>C	1.37:g.79093672G>C	ENSP00000359787:p.Leu24Phe					IFI44L_uc010orp.1_Intron|IFI44L_uc010orq.1_Intron	p.L24F	NM_006820	NP_006811	Q53G44	IF44L_HUMAN			2	251	+			24					Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	c.72G>C	CCDS687.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940128	0.73557	.	.	ENSG00000137959	ENST00000452835;ENST00000370751;ENST00000450498	T;T;T	0.52057	0.68;2.61;1.3	3.13	0.979	0.19745	.	0.112321	0.36409	N	0.002611	T	0.15739	0.0379	L	0.38175	1.15	0.80722	D	1	P	0.40931	0.733	B	0.41988	0.372	T	0.05338	-1.0891	10	0.17832	T	0.49	.	3.6632	0.08246	0.1268:0.0:0.4293:0.4439	.	24	Q53G44	IF44L_HUMAN	F	24;24;1	ENSP00000409914:L24F;ENSP00000359787:L24F;ENSP00000400784:L1F	ENSP00000359787:L24F	L	+	3	2	IFI44L	78866260	0.193000	0.23313	0.708000	0.30435	0.857000	0.48899	0.443000	0.21644	0.251000	0.21505	0.411000	0.27672	TTG		0.363	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3		NM_006820		32	24	0	0	0	1	0	32	24		
HS2ST1	9653	broad.mit.edu	37	1	87379771	87379771	+	5'Flank	SNP	C	C	G	rs569250229	byFrequency	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:87379771C>G	ENST00000370550.5	+	0	0				SEP15_ENST00000469566.1_Intron|HS2ST1_ENST00000370551.4_5'Flank|SEP15_ENST00000401030.3_Silent_p.P5P|SEP15_ENST00000331835.5_Silent_p.P5P|SEP15_ENST00000370554.1_Silent_p.P5P	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		GACACCCACTCGGCCCAGCCG	0.587																																						uc010osi.1		NaN																	0					0						c.(22-24)CCG>CCC		15 kDa selenoprotein isoform 1 precursor							48.0	68.0	61.0					1																	87379771		2044	4206	6250	SO:0001631	upstream_gene_variant	9403				'de novo' posttranslational protein folding	endoplasmic reticulum lumen	selenium binding	g.chr1:87379771C>G	AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"""Sulfotransferases, membrane-bound"""	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255		1.37:g.87379771C>G	Exception_encountered					HS2ST1_uc001dmc.3_5'Flank|HS2ST1_uc010osk.1_5'Flank|SEP15_uc010osj.1_Silent_p.P8P	p.P8P	NM_004261	NP_004252	O60613	SEP15_HUMAN		all cancers(265;0.00744)|Epithelial(280;0.0333)	1	337	-		Lung NSC(277;0.153)	5					D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Silent	SNP	ENST00000370550.5	37	c.24G>C	CCDS711.1																																																																																				0.587	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028279.2		NM_012262		53	74	0	0	0	1	0	53	74		
LRRC8C	84230	broad.mit.edu	37	1	90179371	90179371	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:90179371G>A	ENST00000370454.4	+	3	1497	c.1242G>A	c.(1240-1242)ctG>ctA	p.L414L	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	414					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CTGATAAACTGAGGCAGAAGC	0.413																																						uc001dnl.3		NaN																	0				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(1240-1242)CTG>CTA		leucine rich repeat containing 8 family, member							81.0	76.0	78.0					1																	90179371		2203	4300	6503	SO:0001819	synonymous_variant	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90179371G>A		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1242G>A	1.37:g.90179371G>A							p.L414L	NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	1484	+		all_lung(203;0.126)	414			LRR 1.		B3KXS9|Q29RV6|Q9H075	Silent	SNP	ENST00000370454.4	37	c.1242G>A	CCDS725.1																																																																																				0.413	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2		NM_032270		41	53	0	0	0	1	0	41	53		
SNX7	51375	broad.mit.edu	37	1	99150470	99150470	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:99150470C>G	ENST00000306121.3	+	2	219	c.210C>G	c.(208-210)ttC>ttG	p.F70L	SNX7_ENST00000370189.5_Missense_Mutation_p.F6L|SNX7_ENST00000529992.1_Missense_Mutation_p.F70L	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	6	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TGAACTCCTTCAGCCCTATGA	0.338																																						uc010ouc.1		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(208-210)TTC>TTG		sorting nexin 7 isoform a							118.0	107.0	110.0					1																	99150470		2203	4300	6503	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99150470C>G	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.210C>G	1.37:g.99150470C>G	ENSP00000304429:p.Phe70Leu					SNX7_uc001dsa.2_Missense_Mutation_p.F6L|SNX7_uc010oud.1_Missense_Mutation_p.F70L	p.F70L	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	2	262	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	6					A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.210C>G	CCDS755.2	.	.	.	.	.	.	.	.	.	.	C	14.34	2.504752	0.44558	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121;ENST00000454199	T;T;T;T	0.55413	1.53;2.24;1.54;0.52	5.39	0.141	0.14811	.	0.439021	0.26832	N	0.022269	T	0.20373	0.0490	L	0.51422	1.61	0.46954	D	0.999261	B;B;B	0.18461	0.028;0.003;0.001	B;B;B	0.14023	0.01;0.006;0.004	T	0.06463	-1.0825	10	0.22706	T	0.39	-9.5515	5.7382	0.18079	0.0:0.5257:0.1254:0.3489	.	70;70;6	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	L	6;70;70;6	ENSP00000359208:F6L;ENSP00000434731:F70L;ENSP00000304429:F70L;ENSP00000388266:F6L	ENSP00000304429:F70L	F	+	3	2	SNX7	98923058	0.995000	0.38212	0.993000	0.49108	0.972000	0.66771	0.293000	0.19029	0.000000	0.14550	0.650000	0.86243	TTC		0.338	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2				50	85	0	0	0	1	0	50	85		
STRIP1	85369	broad.mit.edu	37	1	110591786	110591786	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:110591786G>C	ENST00000369795.3	+	16	1736	c.1714G>C	c.(1714-1716)Gag>Cag	p.E572Q	STRIP1_ENST00000369796.1_Missense_Mutation_p.E477Q	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	572					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											CCGCCACAAAGAGGTCATTGT	0.522																																						uc001dza.1		NaN																	0				ovary(3)|large_intestine(1)	4						c.(1714-1716)GAG>CAG		hypothetical protein LOC85369							97.0	71.0	80.0					1																	110591786		2203	4300	6503	SO:0001583	missense	85369					nucleus	protein binding	g.chr1:110591786G>C	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1714G>C	1.37:g.110591786G>C	ENSP00000358810:p.Glu572Gln					FAM40A_uc001dyz.1_Missense_Mutation_p.E477Q|FAM40A_uc009wfp.1_Missense_Mutation_p.E396Q	p.E572Q	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)	16	1733	+		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	572					Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	c.1714G>C	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	G	35	5.416017	0.96092	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.66099	-0.15;-0.19	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.83552	0.5279	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85961	0.1470	10	0.87932	D	0	-31.6401	20.2825	0.98528	0.0:0.0:1.0:0.0	.	477;572	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	Q	477;572	ENSP00000358811:E477Q;ENSP00000358810:E572Q	ENSP00000358810:E572Q	E	+	1	0	FAM40A	110393309	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.818000	0.99354	2.894000	0.99253	0.591000	0.81541	GAG		0.522	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1		NM_033088		30	50	0	0	0	1	0	30	50		
STRIP1	85369	broad.mit.edu	37	1	110592108	110592108	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:110592108G>A	ENST00000369795.3	+	17	1837	c.1815G>A	c.(1813-1815)gtG>gtA	p.V605V	STRIP1_ENST00000369796.1_Silent_p.V510V	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	605					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											AGCACCTGGTGTTTGCCAACT	0.473																																						uc001dza.1		NaN																	0				ovary(3)|large_intestine(1)	4						c.(1813-1815)GTG>GTA		hypothetical protein LOC85369							85.0	85.0	85.0					1																	110592108		2203	4300	6503	SO:0001819	synonymous_variant	85369					nucleus	protein binding	g.chr1:110592108G>A	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1815G>A	1.37:g.110592108G>A						FAM40A_uc001dyz.1_Silent_p.V510V|FAM40A_uc009wfp.1_Silent_p.V429V	p.V605V	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)	17	1834	+		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	605					Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Silent	SNP	ENST00000369795.3	37	c.1815G>A	CCDS30798.1																																																																																				0.473	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1		NM_033088		57	72	0	0	0	1	0	57	72		
PPM1J	333926	broad.mit.edu	37	1	113253221	113253221	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:113253221C>G	ENST00000309276.6	-	9	1406	c.1231G>C	c.(1231-1233)Gac>Cac	p.D411H	RP11-426L16.10_ENST00000606505.1_Nonstop_Mutation_p.*92S|RP11-426L16.10_ENST00000471038.2_5'UTR|PPM1J_ENST00000359994.4_Missense_Mutation_p.D205H|PPM1J_ENST00000464951.1_Missense_Mutation_p.D205H	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	411	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTGTCAGGTCATACACTCGT	0.532																																						uc001ect.1		NaN																	0				breast(2)|central_nervous_system(1)	3						c.(1231-1233)GAC>CAC		protein phosphatase 1J (PP2C domain containing)							169.0	158.0	162.0					1																	113253221		2203	4300	6503	SO:0001583	missense	333926							g.chr1:113253221C>G	AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	20785	protein-coding gene	gene with protein product	"""protein phosphatase 2C zeta"""	609957	"""protein phosphatase 1J (PP2C domain containing)"""			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.1231G>C	1.37:g.113253221C>G	ENSP00000308926:p.Asp411His					PPM1J_uc009wgl.1_RNA|PPM1J_uc001ecs.1_Missense_Mutation_p.D205H	p.D411H	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1258	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	411			PP2C-like.		B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Missense_Mutation	SNP	ENST00000309276.6	37	c.1231G>C	CCDS855.2	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850352	0.32699	.	.	ENSG00000155367	ENST00000309276;ENST00000359994	T;T	0.17854	2.25;2.25	5.41	5.41	0.78517	Protein phosphatase 2C-like (5);	0.102878	0.64402	D	0.000003	T	0.27731	0.0682	L	0.56769	1.78	0.53688	D	0.999975	D;B	0.89917	1.0;0.343	D;B	0.77004	0.989;0.25	T	0.01309	-1.1389	10	0.87932	D	0	-25.5857	12.2036	0.54340	0.0:0.9205:0.0:0.0795	.	411;205	Q5JR12;Q5JR12-2	PPM1J_HUMAN;.	H	411;205	ENSP00000308926:D411H;ENSP00000353088:D205H	ENSP00000308926:D411H	D	-	1	0	PPM1J	113054744	1.000000	0.71417	1.000000	0.80357	0.116000	0.19942	3.272000	0.51616	2.546000	0.85860	0.491000	0.48974	GAC		0.532	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1		NM_005167		90	125	0	0	0	1	0	90	125		
OLFML3	56944	broad.mit.edu	37	1	114523069	114523069	+	Missense_Mutation	SNP	G	G	C	rs144544470		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:114523069G>C	ENST00000320334.4	+	2	304	c.230G>C	c.(229-231)aGa>aCa	p.R77T	OLFML3_ENST00000369551.1_Missense_Mutation_p.R57T|OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Missense_Mutation_p.R57T	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	77					multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGCACTCAGAACTGAGGCC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		18226	0.0		0.001	False		,,,				2504	0.0					uc001eer.1		NaN																	0					0						c.(229-231)AGA>ACA		olfactomedin-like 3 precursor							78.0	81.0	80.0					1																	114523069		2203	4300	6503	SO:0001583	missense	56944				multicellular organismal development	extracellular region		g.chr1:114523069G>C	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.230G>C	1.37:g.114523069G>C	ENSP00000322273:p.Arg77Thr					OLFML3_uc001ees.1_Missense_Mutation_p.R57T|OLFML3_uc001eet.1_5'UTR	p.R77T	NM_020190	NP_064575	Q9NRN5	OLFL3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	339	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	77			Potential.		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Missense_Mutation	SNP	ENST00000320334.4	37	c.230G>C	CCDS870.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.0	4.077280	0.76415	.	.	ENSG00000116774	ENST00000369551;ENST00000320334;ENST00000393300	D;D;D	0.95342	-3.68;-3.68;-3.68	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.93138	0.7815	L	0.32530	0.975	0.37925	D	0.9318	D;P	0.56035	0.974;0.895	P;B	0.53861	0.736;0.354	D	0.94391	0.7614	10	0.87932	D	0	.	18.6891	0.91576	0.0:0.0:1.0:0.0	.	57;77	Q9NRN5-2;Q9NRN5	.;OLFL3_HUMAN	T	57;77;57	ENSP00000358564:R57T;ENSP00000322273:R77T;ENSP00000376977:R57T	ENSP00000322273:R77T	R	+	2	0	OLFML3	114324592	0.983000	0.35010	0.983000	0.44433	0.976000	0.68499	4.498000	0.60373	2.517000	0.84864	0.561000	0.74099	AGA		0.587	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1		NM_020190		40	71	0	0	0	1	0	40	71		
TRIM45	80263	broad.mit.edu	37	1	117656050	117656050	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:117656050G>A	ENST00000256649.4	-	5	2051	c.1525C>T	c.(1525-1527)Cac>Tac	p.H509Y	TRIM45_ENST00000369461.3_Missense_Mutation_p.H452Y|TRIM45_ENST00000369464.3_Missense_Mutation_p.H491Y	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	509					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GTGCAGCAGTGAAACACGCCT	0.572																																						uc001egz.2		NaN																	0				central_nervous_system(1)	1						c.(1525-1527)CAC>TAC		tripartite motif-containing 45 isoform 1							78.0	72.0	74.0					1																	117656050		2203	4300	6503	SO:0001583	missense	80263					cytoplasm|nucleus	zinc ion binding	g.chr1:117656050G>A		CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.1525C>T	1.37:g.117656050G>A	ENSP00000256649:p.His509Tyr					TRIM45_uc009whe.2_Missense_Mutation_p.H491Y|TRIM45_uc001eha.2_Missense_Mutation_p.H405Y	p.H509Y	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)	5	2113	-	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)	509					Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	ENST00000256649.4	37	c.1525C>T	CCDS893.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795522	0.90453	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	D;T;T	0.81996	-1.56;1.09;-1.29	4.82	4.82	0.62117	Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	D	0.89206	0.6649	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.87861	0.2664	10	0.37606	T	0.19	-23.6855	17.0637	0.86554	0.0:0.0:1.0:0.0	.	491;509	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	Y	509;491;452	ENSP00000256649:H509Y;ENSP00000358476:H491Y;ENSP00000358473:H452Y	ENSP00000256649:H509Y	H	-	1	0	TRIM45	117457573	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	8.951000	0.93025	2.504000	0.84457	0.563000	0.77884	CAC		0.572	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1		NM_025188		48	39	0	0	0	1	0	48	39		
FAM72D	728833	broad.mit.edu	37	1	143912363	143912363	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:143912363G>C	ENST00000400889.1	-	0	780				SRGAP2B_ENST00000467933.1_RNA	NM_207418.2	NP_997301.2	Q6L9T8	FA72D_HUMAN	family with sequence similarity 72, member D											lung(1)	1						CTACTATTTTGATTCCCCTAG	0.418																																						uc002qvn.1		NaN																	0					0						c.(-69--65)ATCAA>ATGAA		hypothetical protein LOC653573																																						728833							g.chr1:143912363G>C	CR589924	CCDS72855.1	1q21.1	2008-10-30			ENSG00000215784	ENSG00000215784			33593	protein-coding gene	gene with protein product		614712					Standard	NM_207418		Approved		uc002qvn.1	Q6L9T8	OTTHUMG00000074801	ENST00000400889.1:c.-68C>G	1.37:g.143912363G>C						FAM72D_uc010evy.1_Translation_Start_Site		NM_207418	NP_997301	Q6L9T8	FA72D_HUMAN			1	781	-									Translation_Start_Site	SNP	ENST00000400889.1	37	c.-67C>G	CCDS44204.1																																																																																				0.418	FAM72D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158589.3		XM_001128582		41	80	0	0	0	1	0	41	80		
PDE4DIP	9659	broad.mit.edu	37	1	144882814	144882814	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:144882814C>T	ENST00000369354.3	-	24	3394	c.3205G>A	c.(3205-3207)Gat>Aat	p.D1069N	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.D1069N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.D1135N|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.D1206N|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.D1206N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1069					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCCATCCATCAGACATTGCT	0.512			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(3205-3207)GAT>AAT		phosphodiesterase 4D interacting protein isoform							299.0	272.0	281.0					1																	144882814		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144882814C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3205G>A	1.37:g.144882814C>T	ENSP00000358360:p.Asp1069Asn					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.D1135N|PDE4DIP_uc001elv.3_Missense_Mutation_p.D76N	p.D1069N	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	24	3496	-			1069					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.3205G>A	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.790816	0.70452	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01725	4.67;4.86;4.86;4.86;4.86	5.91	5.0	0.66597	.	.	.	.	.	T	0.00875	0.0029	N	0.19112	0.55	0.80722	D	1	P;P	0.46395	0.634;0.877	B;P	0.45829	0.295;0.494	T	0.75750	-0.3208	9	0.18276	T	0.48	.	14.3939	0.66999	0.1487:0.8513:0.0:0.0	.	1135;1069	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	N	1135;1069;1069;1206;1206	ENSP00000327209:D1135N;ENSP00000358360:D1069N;ENSP00000358363:D1069N;ENSP00000435654:D1206N;ENSP00000358366:D1206N	ENSP00000327209:D1135N	D	-	1	0	PDE4DIP	143594171	0.918000	0.31147	0.998000	0.56505	0.998000	0.95712	2.414000	0.44627	1.512000	0.48834	0.655000	0.94253	GAT		0.512	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		116	494	0	0	0	1	0	116	494		
PDE4DIP	9659	broad.mit.edu	37	1	145075664	145075664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:145075664C>A	ENST00000530740.1	-	1	237	c.199G>T	c.(199-201)Gaa>Taa	p.E67*	PDE4DIP_ENST00000369348.3_Nonsense_Mutation_p.E67*|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.E67*|PDE4DIP_ENST00000369345.4_Nonsense_Mutation_p.E67*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.E67K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTGCTTCTTCCTCCTCGGCC	0.721			T	PDGFRB	MPD																																	uc001emh.2		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		1	Substitution - Missense(1)		skin(1)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(199-201)GAA>TAA		phosphodiesterase 4D interacting protein isoform							41.0	51.0	48.0					1																	145075664		2199	4285	6484	SO:0001587	stop_gained	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145075664C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.199G>T	1.37:g.145075664C>A	ENSP00000435654:p.Glu67*					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Nonsense_Mutation_p.E67*|PDE4DIP_uc001emk.2_Nonsense_Mutation_p.E67*	p.E67*	NM_022359	NP_071754	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	416	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP	ENST00000530740.1	37	c.199G>T		.	.	.	.	.	.	.	.	.	.	C	25.5	4.646144	0.87958	.	.	ENSG00000178104	ENST00000530740;ENST00000369359;ENST00000369348;ENST00000369345	.	.	.	3.54	2.59	0.31030	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.7032	0.34338	0.0:0.7653:0.2347:0.0	.	.	.	.	X	67	.	ENSP00000358351:E67X	E	-	1	0	PDE4DIP	143787021	1.000000	0.71417	0.966000	0.40874	0.378000	0.30076	1.348000	0.33987	0.769000	0.33313	0.511000	0.50034	GAA		0.721	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2		NM_022359		25	208	1	0	6.05902e-23	1	6.3708e-23	25	208		
NOTCH2NL	388677	broad.mit.edu	37	1	145281491	145281491	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:145281491G>A	ENST00000369340.3	+	5	865	c.421G>A	c.(421-423)Gag>Aag	p.E141K	NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.E141K|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.E141K|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.E141K			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	141	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GCAGAAGTGTGAGACTGATGT	0.552																																						uc001emn.3		NaN																	0				ovary(1)	1						c.(421-423)GAG>AAG		Notch homolog 2 N-terminal like protein							338.0	326.0	330.0					1																	145281491		2203	4300	6503	SO:0001583	missense	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145281491G>A		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.421G>A	1.37:g.145281491G>A	ENSP00000358346:p.Glu141Lys					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Missense_Mutation_p.E141K|NOTCH2NL_uc001emo.2_Missense_Mutation_p.E141K|NOTCH2NL_uc010oyh.1_RNA	p.E141K	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN			4	791	+			141			EGF-like 4.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	c.421G>A	CCDS909.1	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159069	0.21454	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	D;D;D	0.99483	-5.99;-5.99;-5.99	2.87	2.87	0.33458	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.98317	0.9442	M	0.84326	2.69	0.24779	N	0.992821	P;P	0.49090	0.868;0.919	B;P	0.45881	0.443;0.496	D	0.97108	0.9802	9	0.24483	T	0.36	.	11.5361	0.50639	0.0:0.0:1.0:0.0	.	141;141	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	K	141	ENSP00000354929:E141K;ENSP00000344557:E141K;ENSP00000358346:E141K	ENSP00000344557:E141K	E	+	1	0	NOTCH2NL	143992848	0.997000	0.39634	0.979000	0.43373	0.972000	0.66771	2.701000	0.47094	1.601000	0.50113	0.400000	0.26472	GAG		0.552	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1		NM_203458		64	553	0	0	0	1	0	64	553		
TXNIP	10628	broad.mit.edu	37	1	145439874	145439874	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:145439874G>C	ENST00000369317.4	+	3	754	c.420G>C	c.(418-420)aaG>aaC	p.K140N	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	140					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGAGACAAAGAAAAACTTTG	0.438																																						uc001enn.3		NaN																	0				ovary(2)	2						c.(418-420)AAG>AAC		thioredoxin interacting protein							80.0	85.0	83.0					1																	145439874		2202	4300	6502	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145439874G>C	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.420G>C	1.37:g.145439874G>C	ENSP00000358323:p.Lys140Asn					NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.K85N	p.K140N	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			3	761	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		140					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.420G>C	CCDS913.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123000	0.77436	.	.	ENSG00000117289	ENST00000369317;ENST00000425134	T;T	0.14144	2.53;2.53	5.27	5.27	0.74061	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.049008	0.85682	D	0.000000	T	0.28532	0.0706	M	0.87682	2.9	0.80722	D	1	D;P	0.55800	0.973;0.94	P;P	0.55923	0.787;0.744	T	0.03463	-1.1034	10	0.46703	T	0.11	-10.1943	16.4254	0.83813	0.0:0.0:1.0:0.0	.	85;140	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	N	140;85	ENSP00000358323:K140N;ENSP00000396322:K85N	ENSP00000358323:K140N	K	+	3	2	TXNIP	144151231	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	2.900000	0.48687	2.753000	0.94483	0.651000	0.88453	AAG		0.438	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1		NM_006472		62	68	0	0	0	1	0	62	68		
TXNIP	10628	broad.mit.edu	37	1	145440123	145440123	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:145440123G>A	ENST00000369317.4	+	4	891	c.557G>A	c.(556-558)aGa>aAa	p.R186K	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	186					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGAATTGACAGAAAAGGATTC	0.458																																						uc001enn.3		NaN																	0				ovary(2)	2						c.(556-558)AGA>AAA		thioredoxin interacting protein							141.0	154.0	150.0					1																	145440123		2203	4300	6503	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145440123G>A	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.557G>A	1.37:g.145440123G>A	ENSP00000358323:p.Arg186Lys					NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.R131K	p.R186K	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			4	898	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		186					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.557G>A	CCDS913.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852707	0.51270	.	.	ENSG00000117289	ENST00000369317;ENST00000425134	T;T	0.15372	2.43;2.43	5.17	4.26	0.50523	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.052617	0.64402	D	0.000001	T	0.06325	0.0163	L	0.34521	1.04	0.49582	D	0.999806	P;B	0.34997	0.479;0.051	B;B	0.36092	0.217;0.044	T	0.24621	-1.0155	10	0.29301	T	0.29	-13.5966	11.6599	0.51341	0.0861:0.0:0.9139:0.0	.	131;186	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	K	186;131	ENSP00000358323:R186K;ENSP00000396322:R131K	ENSP00000358323:R186K	R	+	2	0	TXNIP	144151480	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.091000	0.76923	1.418000	0.47098	-0.156000	0.13503	AGA		0.458	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1		NM_006472		101	142	0	0	0	1	0	101	142		
ADAMTSL4	54507	broad.mit.edu	37	1	150532597	150532597	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:150532597C>T	ENST00000369038.2	+	17	3351	c.3150C>T	c.(3148-3150)gtC>gtT	p.V1050V	ADAMTSL4_ENST00000369039.5_Silent_p.V1073V|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Silent_p.V1050V			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	1050	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGCTCTGCGTCTACCCCTACT	0.622											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001eux.2		NaN																	0				ovary(1)|skin(1)	2						c.(3148-3150)GTC>GTT		thrombospondin repeat containing 1 isoform 1							141.0	125.0	130.0					1																	150532597		2203	4300	6503	SO:0001819	synonymous_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150532597C>T	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.3150C>T	1.37:g.150532597C>T			OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1733	ADAMTSL4_uc009wlw.2_Silent_p.V1073V|ADAMTSL4_uc010pcg.1_Silent_p.V1011V|ADAMTSL4_uc009wlx.2_Silent_p.V213V	p.V1050V	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		19	3386	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		1050			PLAC.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	SNP	ENST00000369038.2	37	c.3150C>T	CCDS955.1																																																																																				0.622	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4		NM_019032		89	131	0	0	0	1	0	89	131		
SEMA6C	10500	broad.mit.edu	37	1	151111130	151111130	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:151111130G>C	ENST00000341697.3	-	7	2123	c.432C>G	c.(430-432)ttC>ttG	p.F144L				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	144	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACACAGGGCTGAATGAGTTCG	0.527																																						uc001ewu.2		NaN																	0				ovary(1)|skin(1)	2						c.(430-432)TTC>TTG		semaphorin Y precursor							92.0	84.0	86.0					1																	151111130		2203	4300	6503	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151111130G>C	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.432C>G	1.37:g.151111130G>C	ENSP00000344148:p.Phe144Leu					SEMA6C_uc001ewv.2_Missense_Mutation_p.F144L|SEMA6C_uc001eww.2_Missense_Mutation_p.F144L|SEMA6C_uc010pcq.1_Missense_Mutation_p.F144L|SEMA6C_uc009wml.1_RNA	p.F144L	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	732	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		144			Extracellular (Potential).|Sema.		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.432C>G	CCDS984.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214563	0.79352	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.06	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	M	0.86502	2.82	0.48975	D	0.999732	D;D;D;D	0.76494	0.999;0.99;0.997;0.997	D;D;D;D	0.76575	0.956;0.979;0.952;0.988	T	0.20907	-1.0261	10	0.62326	D	0.03	.	9.3629	0.38206	0.0944:0.0:0.9056:0.0	.	144;144;144;144	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	L	144	ENSP00000357910:F144L;ENSP00000357908:F144L;ENSP00000357909:F144L;ENSP00000344148:F144L	ENSP00000344148:F144L	F	-	3	2	SEMA6C	149377754	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	1.395000	0.34520	2.642000	0.89623	0.561000	0.74099	TTC		0.527	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1		NM_030913		36	53	0	0	0	1	0	36	53		
RFX5	5993	broad.mit.edu	37	1	151316209	151316209	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:151316209G>A	ENST00000290524.4	-	9	883	c.705C>T	c.(703-705)ctC>ctT	p.L235L	RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000452513.2_Silent_p.L195L|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452671.2_Silent_p.L235L|RFX5_ENST00000368870.2_Silent_p.L235L	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	235					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGCAGAGATGAGATGCTGCT	0.582																																						uc001exv.1		NaN																	0				ovary(1)	1						c.(703-705)CTC>CTT		regulatory factor X, 5							88.0	77.0	81.0					1																	151316209		2203	4300	6503	SO:0001819	synonymous_variant	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151316209G>A		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.705C>T	1.37:g.151316209G>A						RFX5_uc001exw.1_Silent_p.L235L|RFX5_uc009wmr.1_Silent_p.L235L|RFX5_uc010pcx.1_Silent_p.L195L	p.L235L	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		9	919	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		235					B7Z848|D3DV19|E9PFU4|Q5VWC3	Silent	SNP	ENST00000290524.4	37	c.705C>T	CCDS994.1																																																																																				0.582	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6		NM_000449		40	66	0	0	0	1	0	40	66		
ASH1L	55870	broad.mit.edu	37	1	155365333	155365333	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:155365333C>T	ENST00000368346.3	-	7	6659	c.6020G>A	c.(6019-6021)cGa>cAa	p.R2007Q	ASH1L-IT1_ENST00000458371.1_RNA|ASH1L_ENST00000392403.3_Missense_Mutation_p.R2007Q			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2007					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTGGATCAATCGACTCTTTGG	0.413																																						uc009wqq.2		NaN																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(6019-6021)CGA>CAA		absent, small, or homeotic 1-like							73.0	71.0	71.0					1																	155365333		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155365333C>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6020G>A	1.37:g.155365333C>T	ENSP00000357330:p.Arg2007Gln					ASH1L_uc001fkt.2_Missense_Mutation_p.R2007Q	p.R2007Q	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		7	6500	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2007					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.6020G>A		.	.	.	.	.	.	.	.	.	.	C	14.69	2.610323	0.46527	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	T;T	0.50548	0.74;0.74	4.61	4.61	0.57282	.	0.071386	0.64402	D	0.000015	T	0.11836	0.0288	N	0.04508	-0.205	0.80722	D	1	P;P	0.42161	0.663;0.772	B;B	0.29176	0.046;0.099	T	0.06285	-1.0835	10	0.33940	T	0.23	.	15.7371	0.77853	0.0:1.0:0.0:0.0	.	2007;2007	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	Q	2007	ENSP00000357330:R2007Q;ENSP00000376204:R2007Q	ENSP00000357330:R2007Q	R	-	2	0	ASH1L	153631957	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.629000	0.61290	2.563000	0.86464	0.591000	0.81541	CGA		0.413	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1		NM_018489		28	42	0	0	0	1	0	28	42		
LMNA	4000	broad.mit.edu	37	1	156100507	156100507	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:156100507C>G	ENST00000368300.4	+	2	668	c.456C>G	c.(454-456)ctC>ctG	p.L152L	LMNA_ENST00000361308.4_Silent_p.L152L|LMNA_ENST00000368299.3_Silent_p.L152L|LMNA_ENST00000473598.2_Silent_p.L53L|LMNA_ENST00000347559.2_Silent_p.L152L|LMNA_ENST00000448611.2_Silent_p.L40L|LMNA_ENST00000392353.3_Silent_p.L71L|LMNA_ENST00000368297.1_Silent_p.L71L|LMNA_ENST00000368301.2_Silent_p.L152L	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	152	Coil 1B.|Rod.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GCACTGCTCTCAGTGAGAAGC	0.637									Werner syndrome;Hutchinson-Gilford Progeria Syndrome		OREG0013866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fni.2		NaN																	0				ovary(2)	2						c.(454-456)CTC>CTG		lamin A/C isoform 1 precursor							27.0	25.0	26.0					1																	156100507		2203	4300	6503	SO:0001819	synonymous_variant	4000	Werner_syndrome|Hutchinson-Gilford_Progeria_Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity|structural molecule activity	g.chr1:156100507C>G	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.456C>G	1.37:g.156100507C>G			OREG0013866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1775	LMNA_uc001fnf.1_Silent_p.L152L|LMNA_uc001fng.2_Silent_p.L152L|LMNA_uc001fnh.2_Silent_p.L152L|LMNA_uc009wro.1_Silent_p.L152L|LMNA_uc010pgz.1_Silent_p.L40L|LMNA_uc001fnj.2_Silent_p.L71L|LMNA_uc001fnk.2_Silent_p.L53L	p.L152L	NM_170707	NP_733821	P02545	LMNA_HUMAN			2	705	+	Hepatocellular(266;0.158)		152			Coil 1B.|Rod.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Silent	SNP	ENST00000368300.4	37	c.456C>G	CCDS1129.1																																																																																				0.637	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2		NM_170707		14	19	0	0	0	1	0	14	19		
SMG5	23381	broad.mit.edu	37	1	156230322	156230322	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:156230322G>A	ENST00000361813.5	-	15	2347	c.2203C>T	c.(2203-2205)Cgt>Tgt	p.R735C	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	735					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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GGCAGGTTACGAAGAGCCATG	0.562																																						uc001foc.3		NaN																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(2203-2205)CGT>TGT		SMG5 homolog nonsense mediated mRNA decay							87.0	78.0	81.0					1																	156230322		2203	4300	6503	SO:0001583	missense	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156230322G>A	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2203C>T	1.37:g.156230322G>A	ENSP00000355261:p.Arg735Cys					SMG5_uc009wrv.2_Missense_Mutation_p.R220C	p.R735C	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN			15	2352	-	Hepatocellular(266;0.158)		735					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	ENST00000361813.5	37	c.2203C>T	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302877	0.60195	.	.	ENSG00000198952	ENST00000361813	T	0.22134	1.97	5.12	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.10680	0.0261	L	0.59436	1.845	0.80722	D	1	B;B	0.33120	0.033;0.398	B;B	0.27715	0.008;0.082	T	0.03576	-1.1023	10	0.49607	T	0.09	-10.899	12.4907	0.55899	0.081:0.0:0.919:0.0	.	4;735	Q96SX4;Q9UPR3	.;SMG5_HUMAN	C	735	ENSP00000355261:R735C	ENSP00000355261:R735C	R	-	1	0	SMG5	154496946	1.000000	0.71417	0.606000	0.28943	0.692000	0.40212	7.228000	0.78079	1.409000	0.46915	-0.258000	0.10820	CGT		0.562	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1		NM_015327		46	63	0	0	0	1	0	46	63		
NES	10763	broad.mit.edu	37	1	156639156	156639156	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:156639156C>G	ENST00000368223.3	-	4	4956	c.4824G>C	c.(4822-4824)caG>caC	p.Q1608H		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1608	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCCTTCCCTCTGAGTGAACT	0.617																																						uc001fpq.2		NaN																	0				ovary(6)	6						c.(4822-4824)CAG>CAC		nestin							67.0	67.0	67.0					1																	156639156		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156639156C>G	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4824G>C	1.37:g.156639156C>G	ENSP00000357206:p.Gln1608His						p.Q1608H	NM_006617	NP_006608	P48681	NEST_HUMAN			4	4957	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1608			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.4824G>C	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300583	0.60195	.	.	ENSG00000132688	ENST00000368223	D	0.87650	-2.28	4.68	4.68	0.58851	.	0.000000	0.31257	N	0.007975	D	0.87470	0.6185	L	0.53249	1.67	0.25286	N	0.989393	D	0.71674	0.998	P	0.61397	0.888	T	0.82125	-0.0612	10	0.66056	D	0.02	.	14.3305	0.66553	0.0:1.0:0.0:0.0	.	1608	P48681	NEST_HUMAN	H	1608	ENSP00000357206:Q1608H	ENSP00000357206:Q1608H	Q	-	3	2	NES	154905780	0.000000	0.05858	0.290000	0.24890	0.916000	0.54674	-0.228000	0.09114	2.146000	0.66826	0.462000	0.41574	CAG		0.617	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2		NM_006617		33	59	0	0	0	1	0	33	59		
FCRL3	115352	broad.mit.edu	37	1	157665209	157665209	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:157665209G>A	ENST00000368184.3	-	8	1612	c.1321C>T	c.(1321-1323)Ctg>Ttg	p.L441L	FCRL3_ENST00000368186.5_Silent_p.L441L|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	441	Ig-like C2-type 5.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCTGCAGTCAGAGAGAGGTTG	0.557																																						uc001frb.2		NaN																	0				ovary(3)|breast(1)	4						c.(1321-1323)CTG>TTG		Fc receptor-like 3 precursor							136.0	133.0	134.0					1																	157665209		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157665209G>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1321C>T	1.37:g.157665209G>A						FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.L441L|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Silent_p.L167L|FCRL3_uc001frc.1_Silent_p.L441L	p.L441L	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			8	1613	-	all_hematologic(112;0.0378)		441			Ig-like C2-type 5.|Extracellular (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.1321C>T	CCDS1167.1																																																																																				0.557	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2		NM_052939		90	131	0	0	0	1	0	90	131		
CADM3	57863	broad.mit.edu	37	1	159169587	159169587	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:159169587C>T	ENST00000368125.4	+	8	1156	c.999C>T	c.(997-999)atC>atT	p.I333I	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR|CADM3_ENST00000368124.4_Silent_p.I367I|CTA-134P22.2_ENST00000609696.1_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	333					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ACGCCATCATCGGTGGGATCG	0.542																																						uc001ftl.2		NaN																	0				ovary(2)	2						c.(997-999)ATC>ATT		cell adhesion molecule 3 isoform 2							167.0	133.0	144.0					1																	159169587		2203	4300	6503	SO:0001819	synonymous_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159169587C>T	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.999C>T	1.37:g.159169587C>T						CADM3_uc001ftk.2_Silent_p.I367I|uc001ftm.1_RNA	p.I333I	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN			8	1141	+	all_hematologic(112;0.0429)		333			Helical; (Potential).		Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	c.999C>T	CCDS44251.1																																																																																				0.542	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1		NM_021189		73	75	0	0	0	1	0	73	75		
COPA	1314	broad.mit.edu	37	1	160262955	160262955	+	Splice_Site	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:160262955C>T	ENST00000241704.7	-	27	3053		c.e27+1		COPA_ENST00000368069.3_Splice_Site	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha						COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGTTACTTACCCGCATGGCT	0.468																																						uc009wti.2		NaN																	0				ovary(1)|skin(1)	2						c.e27+1		coatomer protein complex, subunit alpha isoform							92.0	97.0	95.0					1																	160262955		2203	4300	6503	SO:0001630	splice_region_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160262955C>T	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2823+1G>A	1.37:g.160262955C>T						COPA_uc001fvv.3_Splice_Site_p.R950_splice	p.R941_splice	NM_004371	NP_004362	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		27	3217	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)							Q5T201|Q8IXZ9	Splice_Site	SNP	ENST00000241704.7	37	c.2823_splice	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042908	0.93685	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1326	0.89606	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COPA	158529579	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.998000	0.76277	2.937000	0.99478	0.650000	0.86243	.		0.468	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1		NM_004371	Intron	51	226	0	0	0	1	0	51	226		
CD48	962	broad.mit.edu	37	1	160681499	160681499	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:160681499G>A	ENST00000368046.3	-	1	142	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	CD48_ENST00000368045.3_Silent_p.L19L	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	19					blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGGAGTGACAGAGGCAGCAGT	0.532																																						uc001fwn.2		NaN																	0					0						c.(55-57)CTG>TTG		CD48 molecule precursor							113.0	91.0	99.0					1																	160681499		2203	4300	6503	SO:0001819	synonymous_variant	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160681499G>A	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.55C>T	1.37:g.160681499G>A						CD48_uc001fwo.1_Silent_p.L19L|CD48_uc001fwp.2_Silent_p.L19L	p.L19L	NM_001778	NP_001769	P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		1	87	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		19					Q5U055|Q8MGR0	Silent	SNP	ENST00000368046.3	37	c.55C>T	CCDS1208.1																																																																																				0.532	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1		NM_001778		34	57	0	0	0	1	0	34	57		
GPA33	10223	broad.mit.edu	37	1	167038281	167038281	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:167038281G>C	ENST00000367868.3	-	3	636	c.293C>G	c.(292-294)tCc>tGc	p.S98C	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	98	Ig-like V-type.					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						GGAGGCATCGGACTGCTCAGC	0.502																																						uc001gea.1		NaN																	0					0						c.(292-294)TCC>TGC		transmembrane glycoprotein A33 precursor							206.0	172.0	183.0					1																	167038281		2203	4300	6503	SO:0001583	missense	10223					integral to plasma membrane	receptor activity	g.chr1:167038281G>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.293C>G	1.37:g.167038281G>C	ENSP00000356842:p.Ser98Cys						p.S98C	NM_005814	NP_005805	Q99795	GPA33_HUMAN			3	637	-			98			Ig-like V-type.|Extracellular (Potential).		Q5VZP6	Missense_Mutation	SNP	ENST00000367868.3	37	c.293C>G	CCDS1258.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830387	0.50845	.	.	ENSG00000143167	ENST00000367868	T	0.04917	3.53	5.12	4.15	0.48705	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.462612	0.23157	N	0.051288	T	0.13628	0.0330	M	0.81497	2.545	0.09310	N	1	D	0.89917	1.0	D	0.69479	0.964	T	0.01280	-1.1397	10	0.87932	D	0	.	9.9184	0.41448	0.0:0.0:0.7829:0.2171	.	98	Q99795	GPA33_HUMAN	C	98	ENSP00000356842:S98C	ENSP00000356842:S98C	S	-	2	0	GPA33	165304905	0.024000	0.19004	0.041000	0.18516	0.045000	0.14185	2.064000	0.41432	2.667000	0.90743	0.655000	0.94253	TCC		0.502	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1		NM_005814		34	46	0	0	0	1	0	34	46		
CD247	919	broad.mit.edu	37	1	167408587	167408587	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:167408587G>C	ENST00000362089.5	-	3	285	c.213C>G	c.(211-213)ctC>ctG	p.L71L	CD247_ENST00000392122.3_Silent_p.L71L|CD247_ENST00000483825.1_5'UTR			P20963	CD3Z_HUMAN	CD247 molecule	71	ITAM 1. {ECO:0000255|PROSITE- ProRule:PRU00379}.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)		Muromonab(DB00075)	TTACGTTATAGAGCTGGTTCT	0.627																																					Ovarian(192;1815 2869 36877 43334)	uc001gei.3		NaN																	0					0						c.(211-213)CTC>CTG		T-cell receptor zeta chain isoform 1 precursor							79.0	77.0	77.0					1																	167408587		2203	4300	6503	SO:0001819	synonymous_variant	919				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity	g.chr1:167408587G>C	BC025703	CCDS1260.1, CCDS1261.1	1q24.2	2014-09-17	2006-03-28	2006-03-09	ENSG00000198821	ENSG00000198821		"""CD molecules"""	1677	protein-coding gene	gene with protein product		186780	"""CD3z antigen, zeta polypeptide (TiT3 complex)"", ""CD247 antigen"""	CD3Z		2974162	Standard	NM_198053		Approved	CD3H, CD3Q	uc001gei.4	P20963	OTTHUMG00000034593	ENST00000362089.5:c.213C>G	1.37:g.167408587G>C						CD247_uc001gej.3_Silent_p.L71L|CD247_uc001gek.2_Silent_p.L71L	p.L71L	NM_198053	NP_932170	P20963	CD3Z_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.236)		3	358	-			71			Cytoplasmic (Potential).|ITAM 1.		B1AK49|Q5VX13|Q8TAX4	Silent	SNP	ENST00000362089.5	37	c.213C>G	CCDS1261.1																																																																																				0.627	CD247-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083707.1		NM_198053		53	103	0	0	0	1	0	53	103		
GPR161	23432	broad.mit.edu	37	1	168056841	168056841	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:168056841C>A	ENST00000367838.1	-	7	1619	c.1306G>T	c.(1306-1308)Gaa>Taa	p.E436*	GPR161_ENST00000546300.1_Nonsense_Mutation_p.E322*|GPR161_ENST00000539777.1_Nonsense_Mutation_p.E358*|GPR161_ENST00000361697.2_Nonsense_Mutation_p.E436*|GPR161_ENST00000367835.1_Nonsense_Mutation_p.E436*|GPR161_ENST00000367836.1_Nonsense_Mutation_p.E304*|GPR161_ENST00000271357.5_Nonsense_Mutation_p.E436*|GPR161_ENST00000537209.1_Nonsense_Mutation_p.E456*	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	436					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					TGTTCCACTTCATCCTCAAAT	0.483																																						uc001gfc.2		NaN																	0					0						c.(1306-1308)GAA>TAA		G protein-coupled receptor 161 isoform 2							200.0	191.0	194.0					1																	168056841		2203	4300	6503	SO:0001587	stop_gained	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168056841C>A	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1306G>T	1.37:g.168056841C>A	ENSP00000356812:p.Glu436*					GPR161_uc001gfb.2_Nonsense_Mutation_p.E304*|GPR161_uc010pll.1_Nonsense_Mutation_p.E346*|GPR161_uc010plm.1_Nonsense_Mutation_p.E322*|GPR161_uc009wvo.2_Nonsense_Mutation_p.E453*|GPR161_uc001gfd.2_Nonsense_Mutation_p.E436*|GPR161_uc010pln.1_Nonsense_Mutation_p.E456*	p.E436*	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN			7	1620	-	all_hematologic(923;0.215)		436			Cytoplasmic (Potential).		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Nonsense_Mutation	SNP	ENST00000367838.1	37	c.1306G>T	CCDS1268.1	.	.	.	.	.	.	.	.	.	.	C	44	10.562425	0.99428	.	.	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	.	.	.	5.61	5.61	0.85477	.	0.055893	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-12.0092	19.2168	0.93781	0.0:1.0:0.0:0.0	.	.	.	.	X	436;436;304;436;322;358;456;436	.	ENSP00000271357:E436X	E	-	1	0	GPR161	166323465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.484000	0.60271	2.628000	0.89032	0.561000	0.74099	GAA		0.483	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1		NM_007369		95	143	1	0	1.15365e-47	1	1.23418e-47	95	143		
TIPRL	261726	broad.mit.edu	37	1	168165852	168165852	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:168165852G>C	ENST00000367833.2	+	5	729	c.584G>C	c.(583-585)aGa>aCa	p.R195T		NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TOR signaling pathway regulator	195	Interaction with PPP2CA.				DNA damage checkpoint (GO:0000077)|negative regulation of protein phosphatase type 2A activity (GO:0034048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					GTGCTTATCAGAATGAATGAC	0.328																																						uc001gfg.2		NaN																	0				ovary(1)	1						c.(583-585)AGA>ACA		TIP41, TOR signalling pathway regulator-like							122.0	125.0	124.0					1																	168165852		2203	4300	6503	SO:0001583	missense	261726				DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding	g.chr1:168165852G>C	AB097034	CCDS1270.1, CCDS30935.1	1q23.2	2014-03-07	2014-03-07		ENSG00000143155	ENSG00000143155			30231	protein-coding gene	gene with protein product		611807	"""TIP41, TOR signaling pathway regulator-like (S. cerevisiae)"""			12761501	Standard	NM_001031800		Approved	MGC3794, dJ69E11.3, TIP41	uc001gfg.3	O75663	OTTHUMG00000034646	ENST00000367833.2:c.584G>C	1.37:g.168165852G>C	ENSP00000356807:p.Arg195Thr					TIPRL_uc001gfh.2_Missense_Mutation_p.R195T	p.R195T	NM_152902	NP_690866	O75663	TIPRL_HUMAN			5	729	+	all_hematologic(923;0.215)		195			Interaction with PPP2CA.		B2R8V3|Q5HYB2|Q8IZ86	Missense_Mutation	SNP	ENST00000367833.2	37	c.584G>C	CCDS1270.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915646	0.92178	.	.	ENSG00000143155	ENST00000367833	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.87811	0.6271	H	0.95850	3.73	0.46222	D	0.998932	D	0.56968	0.978	D	0.63283	0.913	D	0.91099	0.4913	8	0.87932	D	0	-14.1796	19.3046	0.94155	0.0:0.0:1.0:0.0	.	195	O75663	TIPRL_HUMAN	T	195	.	ENSP00000356807:R195T	R	+	2	0	TIPRL	166432476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.337000	0.79256	2.652000	0.90054	0.655000	0.94253	AGA		0.328	TIPRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083822.1		NM_152902		65	90	0	0	0	1	0	65	90		
NME7	29922	broad.mit.edu	37	1	169292506	169292506	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:169292506G>A	ENST00000367811.3	-	3	383	c.127C>T	c.(127-129)Cat>Tat	p.H43Y	RP4-800F24.1_ENST00000432081.1_RNA|NME7_ENST00000472647.1_Missense_Mutation_p.H7Y|NME7_ENST00000469474.1_5'UTR	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	43	DM10. {ECO:0000255|PROSITE- ProRule:PRU00665}.				brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					AAGGTGCGATGATTCTTTACA	0.308																																						uc001gfu.2		NaN																	0				central_nervous_system(1)	1						c.(127-129)CAT>TAT		nucleoside diphosphate kinase 7 isoform a							139.0	147.0	144.0					1																	169292506		2203	4300	6503	SO:0001583	missense	29922				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169292506G>A	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.127C>T	1.37:g.169292506G>A	ENSP00000356785:p.His43Tyr					NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.H7Y|NME7_uc001gfv.1_Missense_Mutation_p.H43Y	p.H43Y	NM_013330	NP_037462	Q9Y5B8	NDK7_HUMAN			3	365	-	all_hematologic(923;0.208)		43			DM10.		A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	c.127C>T	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816367	0.70912	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.54866	0.55;0.55	5.48	5.48	0.80851	Uncharacterised domain DM10 (2);	0.156078	0.64402	D	0.000017	T	0.43700	0.1259	M	0.65975	2.015	0.28193	N	0.927697	P;B	0.40083	0.702;0.342	B;B	0.36335	0.222;0.141	T	0.57510	-0.7799	9	0.72032	D	0.01	-11.2689	18.9664	0.92698	0.0:0.0:1.0:0.0	.	47;43	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	Y	7;43	ENSP00000433341:H7Y;ENSP00000356785:H43Y	ENSP00000356785:H43Y	H	-	1	0	NME7	167559130	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.007000	0.93597	2.575000	0.86900	0.655000	0.94253	CAT		0.308	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1		NM_013330		68	106	0	0	0	1	0	68	106		
SMG7	9887	broad.mit.edu	37	1	183518360	183518360	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:183518360G>T	ENST00000347615.2	+	18	2879	c.2760G>T	c.(2758-2760)aaG>aaT	p.K920N	SMG7_ENST00000507469.1_Missense_Mutation_p.K924N|SMG7_ENST00000508461.1_Missense_Mutation_p.K928N|SMG7_ENST00000515829.2_Missense_Mutation_p.K874N|SMG7_ENST00000367537.3_Missense_Mutation_p.K953N|SMG7_ENST00000456731.2_Missense_Mutation_p.K832N	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	920					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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TATTGGAGAAGCCCTCAGAGC	0.388																																						uc001gqg.2		NaN																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(2758-2760)AAG>AAT		SMG-7 homolog isoform 1							128.0	117.0	121.0					1																	183518360		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183518360G>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2760G>T	1.37:g.183518360G>T	ENSP00000340766:p.Lys920Asn					SMG7_uc001gqf.2_Missense_Mutation_p.K924N|SMG7_uc001gqh.2_Missense_Mutation_p.K874N|SMG7_uc001gqi.2_Missense_Mutation_p.K832N|SMG7_uc010poc.1_Missense_Mutation_p.K928N	p.K920N	NM_173156	NP_775179	Q92540	SMG7_HUMAN			18	2882	+			920					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.2760G>T	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.732961	0.69189	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.75	1.35	0.21983	.	0.506686	0.23896	N	0.043481	T	0.41351	0.1155	N	0.24115	0.695	0.43039	D	0.994628	D;P;P;P;D	0.71674	0.996;0.734;0.827;0.877;0.998	P;B;B;B;D	0.76071	0.794;0.326;0.424;0.417;0.987	T	0.18209	-1.0344	10	0.18276	T	0.48	-16.7707	7.6133	0.28144	0.493:0.0:0.507:0.0	.	928;832;874;920;924	E9PCI0;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;SMG7_HUMAN;.	N	832;953;928;920;924;874	ENSP00000407629:K832N;ENSP00000356507:K953N;ENSP00000426915:K928N;ENSP00000340766:K920N;ENSP00000425133:K924N;ENSP00000421358:K874N	ENSP00000340766:K920N	K	+	3	2	SMG7	181784983	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.672000	0.37523	0.369000	0.24510	-0.143000	0.13931	AAG		0.388	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1		NM_014837		41	42	1	0	9.72345e-25	1	1.02414e-24	41	42		
SMG7	9887	broad.mit.edu	37	1	183520021	183520021	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:183520021G>A	ENST00000347615.2	+	20	3238	c.3119G>A	c.(3118-3120)aGa>aAa	p.R1040K	SMG7_ENST00000507469.1_Missense_Mutation_p.R1044K|SMG7_ENST00000508461.1_Missense_Mutation_p.R1048K|SMG7_ENST00000515829.2_Missense_Mutation_p.R994K|SMG7_ENST00000367537.3_Missense_Mutation_p.R1073K|SMG7_ENST00000456731.2_Missense_Mutation_p.R952K	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1040					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)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AACAGGGATAGAAGGACTGCA	0.458																																						uc001gqg.2		NaN																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(3118-3120)AGA>AAA		SMG-7 homolog isoform 1							95.0	91.0	93.0					1																	183520021		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183520021G>A	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.3119G>A	1.37:g.183520021G>A	ENSP00000340766:p.Arg1040Lys					SMG7_uc001gqf.2_Missense_Mutation_p.R1044K|SMG7_uc001gqh.2_Missense_Mutation_p.R994K|SMG7_uc001gqi.2_Missense_Mutation_p.R952K|SMG7_uc010poc.1_Missense_Mutation_p.R1048K	p.R1040K	NM_173156	NP_775179	Q92540	SMG7_HUMAN			20	3241	+			1040					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.3119G>A	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	G	33	5.225477	0.95173	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.33438	1.44;1.47;1.42;1.51;1.41;1.41	5.45	5.45	0.79879	.	0.049135	0.85682	D	0.000000	T	0.44414	0.1292	L	0.29908	0.895	0.54753	D	0.999987	D;D;D;D;D	0.58268	0.982;0.982;0.974;0.982;0.982	D;D;D;D;D	0.70487	0.952;0.952;0.969;0.952;0.952	T	0.09907	-1.0653	10	0.24483	T	0.36	-12.693	19.6597	0.95861	0.0:0.0:1.0:0.0	.	1048;952;994;1040;1044	E9PCI0;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;SMG7_HUMAN;.	K	952;1073;1048;1040;1044;994	ENSP00000407629:R952K;ENSP00000356507:R1073K;ENSP00000426915:R1048K;ENSP00000340766:R1040K;ENSP00000425133:R1044K;ENSP00000421358:R994K	ENSP00000340766:R1040K	R	+	2	0	SMG7	181786644	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.932000	0.92897	2.708000	0.92522	0.650000	0.86243	AGA		0.458	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1		NM_014837		63	62	0	0	0	1	0	63	62		
COLGALT2	23127	broad.mit.edu	37	1	183920230	183920230	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:183920230G>C	ENST00000361927.4	-	8	1418	c.1047C>G	c.(1045-1047)ctC>ctG	p.L349L	COLGALT2_ENST00000367520.3_Silent_p.L86L|COLGALT2_ENST00000546159.1_Silent_p.L349L	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	349					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										TTCTGCGTTTGAGGTTTATCA	0.413																																						uc001gqr.2		NaN																	0				ovary(1)|breast(1)	2						c.(1045-1047)CTC>CTG		glycosyltransferase 25 domain containing 2							202.0	199.0	200.0					1																	183920230		2203	4300	6503	SO:0001819	synonymous_variant	23127				lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	g.chr1:183920230G>C	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1047C>G	1.37:g.183920230G>C						GLT25D2_uc010poj.1_Silent_p.L349L|GLT25D2_uc001gqq.2_Silent_p.L86L|GLT25D2_uc001gqs.2_Silent_p.L229L	p.L349L	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN			8	1419	-			349					O60327|Q9BZR0	Silent	SNP	ENST00000361927.4	37	c.1047C>G	CCDS1360.1																																																																																				0.413	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1		NM_015101		127	202	0	0	0	1	0	127	202		
NEK7	140609	broad.mit.edu	37	1	198262135	198262135	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:198262135C>T	ENST00000367385.4	+	8	992	c.650C>T	c.(649-651)tCt>tTt	p.S217F	NEK7_ENST00000538004.1_Missense_Mutation_p.S217F	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						AACTTCAAATCTGACATCTGG	0.323																																						uc001gun.3		NaN																	0				stomach(2)|lung(1)|ovary(1)	4						c.(649-651)TCT>TTT		NIMA-related kinase 7							177.0	193.0	188.0					1																	198262135		2203	4298	6501	SO:0001583	missense	140609					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:198262135C>T	AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"""NIMA (never in mitosis gene a)-related kinase 7"""			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.650C>T	1.37:g.198262135C>T	ENSP00000356355:p.Ser217Phe						p.S217F	NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN			8	977	+			217			Protein kinase.		A6NGT8	Missense_Mutation	SNP	ENST00000367385.4	37	c.650C>T	CCDS1394.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837516	0.91117	.	.	ENSG00000151414	ENST00000367385;ENST00000538004	T;T	0.48201	0.82;0.82	5.58	5.58	0.84498	Serine/threonine-protein kinase-like domain (1);Serine-threonine/tyrosine-protein kinase (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	M	0.88979	2.995	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.79976	-0.1576	10	0.87932	D	0	.	19.5957	0.95536	0.0:1.0:0.0:0.0	.	217	Q8TDX7	NEK7_HUMAN	F	217	ENSP00000356355:S217F;ENSP00000444621:S217F	ENSP00000356355:S217F	S	+	2	0	NEK7	196528758	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.426000	0.80270	2.623000	0.88846	0.655000	0.94253	TCT		0.323	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086550.2		NM_133494		133	170	0	0	0	1	0	133	170		
OPTC	26254	broad.mit.edu	37	1	203467966	203467966	+	Splice_Site	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:203467966G>C	ENST00000367222.2	+	4	644	c.528G>C	c.(526-528)ctG>ctC	p.L176L		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	176					negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			TCAAAGGGCTGAGTATGTAAT	0.557																																						uc001gzu.1		NaN																	0					0						c.(526-528)CTG>CTC		opticin precursor							66.0	60.0	62.0					1																	203467966		2203	4300	6503	SO:0001630	splice_region_variant	26254					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:203467966G>C	AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"""oculoglycan"""	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.529+1G>C	1.37:g.203467966G>C							p.L176L	NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		4	644	+			176					Q5T2G4	Silent	SNP	ENST00000367222.2	37	c.528G>C	CCDS1439.1																																																																																				0.557	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1		NM_014359	Silent	45	55	0	0	0	1	0	45	55		
IKBKE	9641	broad.mit.edu	37	1	206649607	206649607	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:206649607G>T	ENST00000367120.3	+	6	815	c.442G>T	c.(442-444)Gag>Tag	p.E148*	IKBKE_ENST00000537984.1_Nonsense_Mutation_p.E63*	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CGTAGGGGAGGAGGGGCAGAG	0.607																																						uc001hdz.1		NaN																	0				ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8						c.(442-444)GAG>TAG		IKK-related kinase epsilon							123.0	106.0	112.0					1																	206649607		2203	4300	6503	SO:0001587	stop_gained	9641				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206649607G>T	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.442G>T	1.37:g.206649607G>T	ENSP00000356087:p.Glu148*					IKBKE_uc009xbu.1_Nonsense_Mutation_p.E148*|IKBKE_uc009xbv.1_Nonsense_Mutation_p.E148*|IKBKE_uc001hea.1_Nonsense_Mutation_p.E63*	p.E148*	NM_014002	NP_054721	Q14164	IKKE_HUMAN			6	810	+	Breast(84;0.137)		148			Protein kinase.		D3DT78|Q3B754|Q3KR43|Q5JTS6	Nonsense_Mutation	SNP	ENST00000367120.3	37	c.442G>T	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	G	38	7.107845	0.98070	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	.	.	.	5.41	4.48	0.54585	.	0.111023	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	16.4035	0.83650	0.0:0.132:0.868:0.0	.	.	.	.	X	148;63	.	ENSP00000356087:E148X	E	+	1	0	IKBKE	204716230	1.000000	0.71417	0.030000	0.17652	0.962000	0.63368	6.406000	0.73276	1.389000	0.46526	0.491000	0.48974	GAG		0.607	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1				59	81	1	0	5.5144e-22	1	5.76848e-22	59	81		
OBSCN	84033	broad.mit.edu	37	1	228467882	228467882	+	Missense_Mutation	SNP	C	C	T	rs566340039		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:228467882C>T	ENST00000422127.1	+	29	7710	c.7666C>T	c.(7666-7668)Cgg>Tgg	p.R2556W	OBSCN_ENST00000284548.11_Missense_Mutation_p.R2556W|OBSCN_ENST00000570156.2_Missense_Mutation_p.R2985W|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1403W|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2556	Ig-like 24.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTTGCAGCGCGGGAGGTGAC	0.642													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17478	0.0		0.0	False		,,,				2504	0.0					uc009xez.1		NaN																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(7666-7668)CGG>TGG		obscurin, cytoskeletal calmodulin and							45.0	52.0	49.0					1																	228467882		2146	4243	6389	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228467882C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7666C>T	1.37:g.228467882C>T	ENSP00000409493:p.Arg2556Trp					OBSCN_uc001hsn.2_Missense_Mutation_p.R2556W|OBSCN_uc001hsp.1_Missense_Mutation_p.R255W|OBSCN_uc001hsq.1_5'Flank	p.R2556W	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			29	7710	+		Prostate(94;0.0405)	2556			Ig-like 24.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.7666C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	c	15.14	2.745370	0.49151	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706	T;T;T	0.44482	0.92;0.92;0.92	5.35	4.41	0.53225	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.70413	0.3221	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.981;0.998;1.0	T	0.77713	-0.2485	10	0.62326	D	0.03	.	15.2306	0.73383	0.1417:0.8583:0.0:0.0	.	2556;2556;2556	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	W	2556;2556;1403;255	ENSP00000284548:R2556W;ENSP00000409493:R2556W;ENSP00000352613:R1403W	ENSP00000284548:R2556W	R	+	1	2	OBSCN	226534505	0.997000	0.39634	0.755000	0.31263	0.332000	0.28634	3.708000	0.54845	1.211000	0.43351	0.550000	0.68814	CGG		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_052843		55	73	0	0	0	1	0	55	73		
LYST	1130	broad.mit.edu	37	1	235929543	235929543	+	Missense_Mutation	SNP	C	C	T	rs529869172		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:235929543C>T	ENST00000389794.3	-	21	6131	c.5957G>A	c.(5956-5958)cGa>cAa	p.R1986Q	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.R1986Q			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1986					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)			ACAAACCTCTCGGGGCATGGG	0.328													C|||	1	0.000199681	0.0	0.0	5008	,	,		18165	0.001		0.0	False		,,,				2504	0.0					uc001hxj.2		NaN																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(5956-5958)CGA>CAA		lysosomal trafficking regulator							111.0	123.0	119.0					1																	235929543		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.chr1:235929543C>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.5957G>A	1.37:g.235929543C>T	ENSP00000374444:p.Arg1986Gln					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	p.R1986Q	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		21	6132	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1986					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.5957G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547936	0.27652	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.60797	0.16;0.16	5.36	2.46	0.29980	.	0.130552	0.53938	N	0.000047	T	0.36193	0.0958	L	0.29908	0.895	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08743	-1.0707	10	0.23302	T	0.38	.	2.4975	0.04625	0.1225:0.5045:0.1192:0.2538	.	1986	Q99698	LYST_HUMAN	Q	1986	ENSP00000374444:R1986Q;ENSP00000374443:R1986Q	ENSP00000374443:R1986Q	R	-	2	0	LYST	233996166	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.755000	0.38379	0.336000	0.23639	-0.291000	0.09656	CGA		0.328	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5				121	123	0	0	0	1	0	121	123		
OR2L3	391192	broad.mit.edu	37	1	248224664	248224664	+	Missense_Mutation	SNP	G	G	A	rs267598495		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:248224664G>A	ENST00000359959.3	+	1	681	c.681G>A	c.(679-681)atG>atA	p.M227I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTACCACATGAAATCTGCAG	0.468																																						uc001idx.1		NaN																	0					0						c.(679-681)ATG>ATA		olfactory receptor, family 2, subfamily L,							152.0	145.0	147.0					1																	248224664		2203	4300	6503	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224664G>A	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.681G>A	1.37:g.248224664G>A	ENSP00000353044:p.Met227Ile					OR2L13_uc001ids.2_Intron	p.M227I	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	681	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		227			Cytoplasmic (Potential).		B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.681G>A	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	G	8.073	0.770663	0.15983	.	.	ENSG00000198128	ENST00000359959	T	0.00021	9.03	2.05	1.08	0.20341	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37715	U	0.001974	T	0.00073	0.0002	N	0.20766	0.605	0.09310	N	1	B	0.22541	0.071	B	0.29785	0.107	T	0.27262	-1.0079	10	0.62326	D	0.03	.	3.6696	0.08269	0.2707:0.2094:0.5198:0.0	.	227	Q8NG85	OR2L3_HUMAN	I	227	ENSP00000353044:M227I	ENSP00000353044:M227I	M	+	3	0	OR2L3	246291287	0.000000	0.05858	0.004000	0.12327	0.049000	0.14656	-2.562000	0.00920	0.175000	0.19841	0.462000	0.41574	ATG		0.468	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1		NM_001004687		92	158	0	0	0	1	0	92	158		
OR2M5	127059	broad.mit.edu	37	1	248309371	248309371	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr1:248309371G>T	ENST00000366476.1	+	1	922	c.922G>T	c.(922-924)Ggc>Tgc	p.G308C		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GTTAGGAAAGGGCAAGTGTGG	0.433																																						uc010pze.1		NaN																	0				ovary(2)|kidney(1)	3						c.(922-924)GGC>TGC		olfactory receptor, family 2, subfamily M,							53.0	49.0	50.0					1																	248309371		2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309371G>T		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.922G>T	1.37:g.248309371G>T	ENSP00000355432:p.Gly308Cys						p.G308C	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	922	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		308			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000366476.1	37	c.922G>T	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	0.096	-1.159584	0.01686	.	.	ENSG00000162727	ENST00000366476	T	0.36340	1.26	2.32	1.2	0.21068	.	.	.	.	.	T	0.18635	0.0447	N	0.16368	0.405	0.09310	N	1	B	0.20671	0.047	B	0.20577	0.03	T	0.22661	-1.0210	9	0.19147	T	0.46	.	5.4146	0.16365	0.0:0.0:0.6675:0.3325	.	308	A3KFT3	OR2M5_HUMAN	C	308	ENSP00000355432:G308C	ENSP00000355432:G308C	G	+	1	0	OR2M5	246375994	0.000000	0.05858	0.012000	0.15200	0.002000	0.02628	-0.439000	0.06897	1.260000	0.44134	0.385000	0.25706	GGC		0.433	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1		NM_001004690		27	43	1	0	2.44723e-14	1	2.52127e-14	27	43		
DHTKD1	55526	broad.mit.edu	37	10	12139993	12139993	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:12139993C>G	ENST00000263035.4	+	8	1731	c.1669C>G	c.(1669-1671)Cag>Gag	p.Q557E		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	557					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GACACATGTTCAGGTGGGCAG	0.517																																						uc001ild.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1669-1671)CAG>GAG		dehydrogenase E1 and transketolase domain							84.0	77.0	79.0					10																	12139993		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12139993C>G	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1669C>G	10.37:g.12139993C>G	ENSP00000263035:p.Gln557Glu						p.Q557E	NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		8	1768	+		Renal(717;0.228)	557					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.1669C>G	CCDS7087.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.756|9.756	1.168691|1.168691	0.21621|0.21621	.|.	.|.	ENSG00000181192|ENSG00000181192	ENST00000263035|ENST00000448829	D|.	0.90620|.	-2.7|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69717|.	0.3142|.	L|L	0.48260|0.48260	1.515|1.515	0.80722|0.80722	D|D	1|1	B|.	0.20052|.	0.041|.	B|.	0.12837|.	0.008|.	T|.	0.65533|.	-0.6145|.	10|.	0.12430|.	T|.	0.62|.	-7.9584|-7.9584	19.3297|19.3297	0.94281|0.94281	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	557|.	Q96HY7|.	DHTK1_HUMAN|.	E|X	557|108	ENSP00000263035:Q557E|.	ENSP00000263035:Q557E|.	Q|S	+|+	1|2	0|0	DHTKD1|DHTKD1	12179999|12179999	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.121000|0.121000	0.20230|0.20230	7.440000|7.440000	0.80464|0.80464	2.571000|2.571000	0.86741|0.86741	0.462000|0.462000	0.41574|0.41574	CAG|TCA		0.517	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1		NM_018706		42	58	0	0	0	1	0	42	58		
CAMK1D	57118	broad.mit.edu	37	10	12811675	12811675	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:12811675G>A	ENST00000378847.3	+	5	779	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	CAMK1D_ENST00000378845.1_Missense_Mutation_p.E148K	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TTTCTAGCCCGAAAATCTCTT	0.388																																						uc001ilo.2		NaN																	0				ovary(1)|stomach(1)	2						c.(442-444)GAA>AAA		calcium/calmodulin-dependent protein kinase ID							94.0	86.0	89.0					10																	12811675		2203	4300	6503	SO:0001583	missense	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12811675G>A	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.442G>A	10.37:g.12811675G>A	ENSP00000368124:p.Glu148Lys					CAMK1D_uc001iln.2_Missense_Mutation_p.E148K	p.E148K	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	5	677	+			148			Protein kinase.		B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	c.442G>A	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268500	0.59540	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.48201	0.82;0.82	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.178760	0.47455	D	0.000224	T	0.64821	0.2633	M	0.90814	3.15	0.80722	D	1	P;P	0.43973	0.603;0.823	B;P	0.46049	0.179;0.502	T	0.74737	-0.3564	10	0.87932	D	0	-25.5166	17.7041	0.88303	0.0:0.0:1.0:0.0	.	148;148	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	K	148	ENSP00000368124:E148K;ENSP00000368122:E148K	ENSP00000368122:E148K	E	+	1	0	CAMK1D	12851681	1.000000	0.71417	0.919000	0.36401	0.354000	0.29330	9.864000	0.99589	2.403000	0.81681	0.561000	0.74099	GAA		0.388	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1		NM_020397		28	27	0	0	0	1	0	28	27		
ERCC6	2074	broad.mit.edu	37	10	50682233	50682233	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:50682233G>A	ENST00000355832.5	-	13	2516	c.2438C>T	c.(2437-2439)tCt>tTt	p.S813F	ERCC6_ENST00000542458.1_Missense_Mutation_p.S183F|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	813					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGGACCTCCAGAAAAGAGATC	0.413								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.3		NaN																	0				lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						c.(2437-2439)TCT>TTT	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							96.0	98.0	98.0					10																	50682233		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50682233G>A	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2438C>T	10.37:g.50682233G>A	ENSP00000348089:p.Ser813Phe					ERCC6_uc009xod.2_5'UTR|ERCC6_uc010qgr.1_Missense_Mutation_p.S183F|ERCC6_uc001jhr.3_Missense_Mutation_p.S181F	p.S813F	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			13	2592	-			813					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.2438C>T	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515277	0.64634	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	T;T	0.77750	-1.12;-1.12	5.1	5.1	0.69264	.	.	.	.	.	D	0.87593	0.6216	M	0.81112	2.525	0.80722	D	1	D;B	0.69078	0.997;0.18	P;B	0.60682	0.878;0.109	D	0.89066	0.3466	9	0.66056	D	0.02	-7.8573	18.8704	0.92311	0.0:0.0:1.0:0.0	.	813;190	Q03468;Q59FF6	ERCC6_HUMAN;.	F	813;190;183	ENSP00000348089:S813F;ENSP00000445134:S183F	ENSP00000348089:S813F	S	-	2	0	ERCC6	50352239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.772000	0.98984	2.539000	0.85634	0.467000	0.42956	TCT		0.413	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1		NM_000124		54	62	0	0	0	1	0	54	62		
SLC18A3	6572	broad.mit.edu	37	10	50819248	50819248	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:50819248G>A	ENST00000374115.3	+	1	902	c.462G>A	c.(460-462)ccG>ccA	p.P154P	CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395559.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	154					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						ACGACGTGCCGCTGCTGATCG	0.637																																						uc001jhw.2		NaN																	0				ovary(2)	2						c.(460-462)CCG>CCA		vesicular acetylcholine transporter							90.0	84.0	86.0					10																	50819248		2203	4300	6503	SO:0001819	synonymous_variant	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819248G>A	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.462G>A	10.37:g.50819248G>A						CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank	p.P154P	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	902	+			154			Helical; (Potential).		B2R7S1	Silent	SNP	ENST00000374115.3	37	c.462G>A	CCDS7231.1																																																																																				0.637	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1		NM_003055		45	150	0	0	0	1	0	45	150		
OGDHL	55753	broad.mit.edu	37	10	50955190	50955190	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:50955190C>T	ENST00000374103.4	-	9	1137	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	OGDHL_ENST00000432695.1_Missense_Mutation_p.R142Q|OGDHL_ENST00000419399.1_Missense_Mutation_p.R294Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	351					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGTGATGTTCCGGTTGGTGAC	0.587																																						uc001jie.2		NaN																	0				pancreas(1)	1						c.(1051-1053)CGG>CAG		oxoglutarate dehydrogenase-like isoform a							267.0	228.0	241.0					10																	50955190		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50955190C>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1052G>A	10.37:g.50955190C>T	ENSP00000363216:p.Arg351Gln					OGDHL_uc009xog.2_Missense_Mutation_p.R378Q|OGDHL_uc010qgt.1_Missense_Mutation_p.R294Q|OGDHL_uc010qgu.1_Missense_Mutation_p.R142Q|OGDHL_uc009xoh.2_Missense_Mutation_p.R142Q	p.R351Q	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			9	1194	-			351					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1052G>A	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	c	18.32	3.598612	0.66332	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.95788	-3.81;-3.81;-3.81	5.79	3.95	0.45737	Dehydrogenase, E1 component (1);	0.103489	0.64402	N	0.000004	D	0.92750	0.7695	L	0.45581	1.43	0.25522	N	0.987358	B;B;B	0.30104	0.168;0.268;0.128	B;B;B	0.38194	0.101;0.267;0.055	D	0.87465	0.2410	10	0.72032	D	0.01	.	5.6397	0.17557	0.0:0.6438:0.0:0.3562	.	294;142;351	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	Q	351;294;142	ENSP00000363216:R351Q;ENSP00000401356:R294Q;ENSP00000390240:R142Q	ENSP00000363216:R351Q	R	-	2	0	OGDHL	50625196	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	0.737000	0.26144	1.468000	0.48064	-0.119000	0.15052	CGG		0.587	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1		NM_018245		61	82	0	0	0	1	0	61	82		
PCDH15	65217	broad.mit.edu	37	10	55663071	55663071	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:55663071G>C	ENST00000320301.6	-	26	3827	c.3433C>G	c.(3433-3435)Cag>Gag	p.Q1145E	PCDH15_ENST00000361849.3_Missense_Mutation_p.Q1145E|PCDH15_ENST00000437009.1_Missense_Mutation_p.Q1074E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.Q1152E|PCDH15_ENST00000395432.2_Missense_Mutation_p.Q1108E|PCDH15_ENST00000395438.1_Missense_Mutation_p.Q1145E|PCDH15_ENST00000414778.1_Missense_Mutation_p.Q1150E|PCDH15_ENST00000409834.1_Missense_Mutation_p.Q756E|PCDH15_ENST00000373965.2_Missense_Mutation_p.Q1152E|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Missense_Mutation_p.Q1145E|PCDH15_ENST00000395433.1_Missense_Mutation_p.Q1123E	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1145	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AATTTTTTCTGAAACACTGGG	0.353										HNSCC(58;0.16)																												uc001jju.1		NaN																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(3433-3435)CAG>GAG		protocadherin 15 isoform CD1-4 precursor							86.0	88.0	87.0					10																	55663071		2202	4300	6502	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55663071G>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3433C>G	10.37:g.55663071G>C	ENSP00000322604:p.Gln1145Glu	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.Q1150E|PCDH15_uc010qhr.1_Missense_Mutation_p.Q1145E|PCDH15_uc010qhs.1_Missense_Mutation_p.Q1157E|PCDH15_uc010qht.1_Missense_Mutation_p.Q1152E|PCDH15_uc010qhu.1_Missense_Mutation_p.Q1145E|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.Q1145E|PCDH15_uc010qhw.1_Missense_Mutation_p.Q1108E|PCDH15_uc010qhx.1_Missense_Mutation_p.Q1074E|PCDH15_uc010qhy.1_Missense_Mutation_p.Q1150E|PCDH15_uc010qhz.1_Missense_Mutation_p.Q1145E|PCDH15_uc010qia.1_Missense_Mutation_p.Q1123E|PCDH15_uc010qib.1_Missense_Mutation_p.Q1123E	p.Q1145E	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			26	3828	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1145			Cadherin 11.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3433C>G	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	g	3.924	-0.017508	0.07681	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19	5.01	1.8	0.24995	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.28896	0.0717	N	0.08118	0	0.25346	N	0.988903	B;B;B;B;B;B;B;B;B;B;B;B;B	0.25312	0.113;0.123;0.07;0.123;0.004;0.123;0.064;0.008;0.113;0.113;0.002;0.002;0.014	B;B;B;B;B;B;B;B;B;B;B;B;B	0.23275	0.045;0.028;0.019;0.019;0.003;0.028;0.045;0.017;0.041;0.041;0.005;0.004;0.005	T	0.15009	-1.0452	9	0.21540	T	0.41	.	1.5977	0.02667	0.1868:0.3027:0.3553:0.1553	.	1123;1145;1145;1150;1074;1108;1145;1145;1152;1152;1145;1150;1145	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	E	1152;1150;1145;1145;756;1152;1108;1145;1123;1145;1145;1150;1074	ENSP00000363076:Q1152E;ENSP00000410304:Q1150E;ENSP00000378826:Q1145E;ENSP00000386693:Q756E;ENSP00000378832:Q1152E;ENSP00000378820:Q1108E;ENSP00000354950:Q1145E;ENSP00000378821:Q1123E;ENSP00000322604:Q1145E;ENSP00000378818:Q1145E;ENSP00000412628:Q1074E	ENSP00000322604:Q1145E	Q	-	1	0	PCDH15	55333077	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	0.807000	0.27140	0.457000	0.26962	0.430000	0.28490	CAG		0.353	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2		NM_033056		35	38	0	0	0	1	0	35	38		
HKDC1	80201	broad.mit.edu	37	10	71020971	71020971	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:71020971C>G	ENST00000354624.5	+	16	2426	c.2293C>G	c.(2293-2295)Ctc>Gtc	p.L765V	HKDC1_ENST00000395086.2_Missense_Mutation_p.L765V	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	765	Hexokinase type-2 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CAAGCAGGGTCTCCTCTTCCG	0.517																																						uc001jpf.3		NaN																	0				ovary(4)|skin(1)	5						c.(2293-2295)CTC>GTC		hexokinase domain containing 1							97.0	83.0	88.0					10																	71020971		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:71020971C>G		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.2293C>G	10.37:g.71020971C>G	ENSP00000346643:p.Leu765Val					HKDC1_uc010qje.1_Missense_Mutation_p.L628V|HKDC1_uc009xqb.2_RNA	p.L765V	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN			16	2426	+			765					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.2293C>G	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750819	0.49257	.	.	ENSG00000156510	ENST00000354624;ENST00000395086	D;D	0.96619	-4.07;-4.07	4.66	4.66	0.58398	Hexokinase, C-terminal (1);	0.065706	0.64402	D	0.000006	D	0.93510	0.7929	L	0.31845	0.965	0.41426	D	0.987831	B	0.09022	0.002	B	0.26310	0.068	D	0.90359	0.4372	10	0.25106	T	0.35	-15.1826	17.7153	0.88335	0.0:1.0:0.0:0.0	.	765	Q2TB90	HKDC1_HUMAN	V	765	ENSP00000346643:L765V;ENSP00000378521:L765V	ENSP00000346643:L765V	L	+	1	0	HKDC1	70690977	0.930000	0.31532	0.996000	0.52242	0.980000	0.70556	2.015000	0.40961	2.407000	0.81776	0.491000	0.48974	CTC		0.517	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1		NM_025130		41	54	0	0	0	1	0	41	54		
CHCHD1	118487	broad.mit.edu	37	10	75542839	75542839	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:75542839G>A	ENST00000372833.5	+	3	264	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	CHCHD1_ENST00000372837.3_3'UTR|ZSWIM8_ENST00000605216.1_5'Flank|ZSWIM8_ENST00000604729.1_5'Flank|ZSWIM8_ENST00000398706.2_5'Flank|ZSWIM8_ENST00000603114.1_5'Flank|ZSWIM8_ENST00000604524.1_5'Flank	NM_203298.2	NP_976043.1	Q96BP2	CHCH1_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 1	84						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)	1	Prostate(51;0.0112)					CAGGAAGCCCGAAAGATGAGA	0.378																																						uc001jvc.3		NaN																	0					0						c.(250-252)CGA>CAA		coiled-coil-helix-coiled-coil-helix domain							112.0	117.0	116.0					10																	75542839		2203	4300	6503	SO:0001583	missense	118487					nucleus		g.chr10:75542839G>A	AK098720	CCDS7334.1	10q22.3	2014-02-12	2004-01-19		ENSG00000172586	ENSG00000172586		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	23518	protein-coding gene	gene with protein product		608842	"""chromosome 10 open reading frame 34"""	C10orf34			Standard	NM_203298		Approved	FLJ25854	uc001jvc.4	Q96BP2	OTTHUMG00000018475	ENST00000372833.5:c.251G>A	10.37:g.75542839G>A	ENSP00000361923:p.Arg84Gln					CHCHD1_uc001jvb.2_3'UTR|KIAA0913_uc009xrk.1_5'Flank|KIAA0913_uc001jve.2_5'Flank|KIAA0913_uc009xrl.2_5'Flank|KIAA0913_uc001jvf.2_5'Flank	p.R84Q	NM_203298	NP_976043	Q96BP2	CHCH1_HUMAN			3	277	+	Prostate(51;0.0112)		84						Missense_Mutation	SNP	ENST00000372833.5	37	c.251G>A	CCDS7334.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571964	0.65765	.	.	ENSG00000172586	ENST00000372833	.	.	.	5.62	4.7	0.59300	.	0.656702	0.14634	N	0.307603	T	0.39118	0.1066	L	0.34521	1.04	0.37359	D	0.911127	P	0.37158	0.585	B	0.27380	0.079	T	0.48115	-0.9063	9	0.42905	T	0.14	-0.0056	13.914	0.63885	0.0764:0.0:0.9236:0.0	.	84	Q96BP2	CHCH1_HUMAN	Q	84	.	ENSP00000361923:R84Q	R	+	2	0	CHCHD1	75212845	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	2.330000	0.43885	2.638000	0.89438	0.655000	0.94253	CGA		0.378	CHCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048676.1		XM_058325		58	71	0	0	0	1	0	58	71		
IFIT2	3433	broad.mit.edu	37	10	91066854	91066854	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:91066854C>T	ENST00000371826.3	+	2	1310	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	381					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				TGGCAACTTTCAGCTGTACCA	0.403																																						uc009xts.2		NaN																	0				ovary(1)|skin(1)	2						c.(1141-1143)CAG>TAG		interferon-induced protein with							91.0	86.0	88.0					10																	91066854		1910	4126	6036	SO:0001587	stop_gained	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91066854C>T	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.1141C>T	10.37:g.91066854C>T	ENSP00000360891:p.Gln381*					LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	p.Q381*	NM_001547	NP_001538	P09913	IFIT2_HUMAN			2	1316	+		Colorectal(252;0.0161)	381			TPR 6.		Q5T767	Nonsense_Mutation	SNP	ENST00000371826.3	37	c.1141C>T	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	C	37	6.484771	0.97603	.	.	ENSG00000119922	ENST00000371826	.	.	.	4.58	4.58	0.56647	.	0.613366	0.14349	U	0.325236	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-10.5926	17.6427	0.88141	0.0:1.0:0.0:0.0	.	.	.	.	X	381	.	ENSP00000360891:Q381X	Q	+	1	0	IFIT2	91056834	0.877000	0.30153	0.974000	0.42286	0.989000	0.77384	1.459000	0.35234	2.832000	0.97577	0.655000	0.94253	CAG		0.403	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1		NM_001547		74	41	0	0	0	1	0	74	41		
ACSM6	142827	broad.mit.edu	37	10	96967005	96967005	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:96967005G>C	ENST00000394005.3	+	3	453	c.444G>C	c.(442-444)aaG>aaC	p.K148N	C10orf129_ENST00000430183.1_5'UTR|C10orf129_ENST00000341686.3_Missense_Mutation_p.K148N			Q6P461	ACSM6_HUMAN		148					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TGACTGCCAAGAAAATTCGCT	0.463																																						uc001kke.2		NaN																	0					0						c.(442-444)AAG>AAC		acyl-coenzyme A synthetase ACSM6, mitochondrial							73.0	69.0	70.0					10																	96967005		2203	4300	6503	SO:0001583	missense	142827				fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr10:96967005G>C																												ENST00000394005.3:c.444G>C	10.37:g.96967005G>C	ENSP00000377573:p.Lys148Asn					C10orf129_uc009xuu.1_Missense_Mutation_p.K58N	p.K148N	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)	4	569	+		Colorectal(252;0.083)	148					A4FU95|A4IF38|Q5VZX2|Q6ZTX1	Missense_Mutation	SNP	ENST00000394005.3	37	c.444G>C	CCDS7440.2	.	.	.	.	.	.	.	.	.	.	G	14.98	2.695924	0.48202	.	.	ENSG00000173124	ENST00000539707;ENST00000341686;ENST00000394005	T;T	0.41758	0.99;0.99	1.2	1.2	0.21068	AMP-dependent synthetase/ligase (1);	.	.	.	.	T	0.43144	0.1234	L	0.41079	1.255	0.54753	D	0.999981	P	0.50528	0.936	P	0.58266	0.836	T	0.43393	-0.9394	9	0.72032	D	0.01	.	3.5753	0.07932	0.2497:0.0:0.7503:0.0	.	148	Q6P461	ACSM6_HUMAN	N	174;148;148	ENSP00000340296:K148N;ENSP00000377573:K148N	ENSP00000340296:K148N	K	+	3	2	C10orf129	96956995	0.998000	0.40836	0.078000	0.20375	0.448000	0.32197	0.768000	0.26590	1.047000	0.40274	0.579000	0.79373	AAG		0.463	C10orf129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049506.2				76	59	0	0	0	1	0	76	59		
PPRC1	23082	broad.mit.edu	37	10	103898696	103898696	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:103898696G>A	ENST00000278070.2	+	4	589	c.550G>A	c.(550-552)Gac>Aac	p.D184N	PPRC1_ENST00000413464.2_Missense_Mutation_p.D184N|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CACCCCAGTTGACCCACTGGG	0.562																																						uc001kum.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(550-552)GAC>AAC		peroxisome proliferator-activated receptor							66.0	68.0	68.0					10																	103898696		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103898696G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.550G>A	10.37:g.103898696G>A	ENSP00000278070:p.Asp184Asn					PPRC1_uc001kun.2_Missense_Mutation_p.D64N|PPRC1_uc010qqj.1_Missense_Mutation_p.D184N|PPRC1_uc009xxa.2_5'Flank	p.D184N	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	4	589	+		Colorectal(252;0.122)	184					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.550G>A	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568043	0.65651	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.54675	0.56;0.56	4.74	4.74	0.60224	.	0.433011	0.24289	N	0.039828	T	0.38904	0.1058	N	0.24115	0.695	0.32562	N	0.530983	P;P;P	0.40332	0.59;0.713;0.59	B;B;B	0.40477	0.177;0.33;0.177	T	0.54728	-0.8250	10	0.66056	D	0.02	.	9.1154	0.36755	0.0981:0.0:0.9019:0.0	.	184;64;184	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	N	184	ENSP00000278070:D184N;ENSP00000399743:D184N	ENSP00000278070:D184N	D	+	1	0	PPRC1	103888686	0.665000	0.27466	0.688000	0.30117	0.963000	0.63663	2.081000	0.41596	2.640000	0.89533	0.561000	0.74099	GAC		0.562	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1		NM_015062		67	55	0	0	0	1	0	67	55		
PPRC1	23082	broad.mit.edu	37	10	103899460	103899460	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:103899460G>C	ENST00000278070.2	+	5	1234	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	PPRC1_ENST00000413464.2_Missense_Mutation_p.E399Q|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GTCAGAGACAGAGGCTGCTGT	0.562																																						uc001kum.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1195-1197)GAG>CAG		peroxisome proliferator-activated receptor							110.0	117.0	114.0					10																	103899460		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103899460G>C	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.1195G>C	10.37:g.103899460G>C	ENSP00000278070:p.Glu399Gln					PPRC1_uc001kun.2_Missense_Mutation_p.E279Q|PPRC1_uc010qqj.1_Missense_Mutation_p.E399Q|PPRC1_uc009xxa.2_RNA	p.E399Q	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	1234	+		Colorectal(252;0.122)	399					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.1195G>C	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	8.443	0.851360	0.17034	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.29655	1.56;1.56	5.82	5.82	0.92795	.	0.441512	0.21178	N	0.078871	T	0.31670	0.0804	L	0.32530	0.975	0.09310	N	1	P;P;P	0.41188	0.624;0.741;0.624	B;P;B	0.44394	0.261;0.448;0.261	T	0.15521	-1.0434	10	0.33141	T	0.24	.	16.8254	0.85929	0.0:0.0:1.0:0.0	.	399;279;399	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	Q	399	ENSP00000278070:E399Q;ENSP00000399743:E399Q	ENSP00000278070:E399Q	E	+	1	0	PPRC1	103889450	0.174000	0.23070	0.105000	0.21289	0.012000	0.07955	2.679000	0.46909	2.751000	0.94390	0.555000	0.69702	GAG		0.562	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1		NM_015062		137	152	0	0	0	1	0	137	152		
SLK	9748	broad.mit.edu	37	10	105768064	105768064	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:105768064G>C	ENST00000369755.3	+	12	3279	c.2734G>C	c.(2734-2736)Gag>Cag	p.E912Q	SLK_ENST00000335753.4_Missense_Mutation_p.E912Q|SLK_ENST00000474260.1_3'UTR	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	912					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.E912*(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGGAGAACAAGAGAAAGAGTT	0.363																																					NSCLC(111;540 1651 1927 4474 17706)	uc001kxo.1		NaN																	1	Substitution - Nonsense(1)	p.E912*(1)	ovary(1)	ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8						c.(2734-2736)GAG>CAG		serine/threonine kinase 2							79.0	79.0	79.0					10																	105768064		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105768064G>C		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.2734G>C	10.37:g.105768064G>C	ENSP00000358770:p.Glu912Gln					SLK_uc001kxp.1_Missense_Mutation_p.E912Q	p.E912Q	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	12	2768	+		Colorectal(252;0.178)	912			Potential.		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.2734G>C	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694791	0.88830	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.35973	1.28;1.28	5.94	4.99	0.66335	Protein kinase-like domain (1);	0.093460	0.64402	D	0.000001	T	0.50650	0.1628	L	0.38175	1.15	0.58432	D	0.999992	D;D	0.89917	1.0;0.998	D;D	0.74023	0.982;0.967	T	0.50857	-0.8778	10	0.87932	D	0	.	16.6436	0.85155	0.0:0.1296:0.8704:0.0	.	912;912	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	Q	912	ENSP00000336824:E912Q;ENSP00000358770:E912Q	ENSP00000336824:E912Q	E	+	1	0	SLK	105758054	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.934000	0.87649	2.820000	0.97059	0.650000	0.86243	GAG		0.363	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1		NM_014720		29	85	0	0	0	1	0	29	85		
SORCS1	114815	broad.mit.edu	37	10	108412274	108412274	+	Missense_Mutation	SNP	C	C	T	rs370679881		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:108412274C>T	ENST00000263054.6	-	18	2348	c.2341G>A	c.(2341-2343)Gta>Ata	p.V781I	SORCS1_ENST00000369698.1_Missense_Mutation_p.V316I|SORCS1_ENST00000344440.6_Missense_Mutation_p.V781I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	781					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.V781L(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGTTCCCTTACGCCATCAGTG	0.493																																						uc001kym.2		NaN																	2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(2341-2343)GTA>ATA		SORCS receptor 1 isoform a		C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	131.0	121.0	124.0		2341,2341,2341,2341,2341,2341	5.7	1.0	10		124	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	SORCS1	NM_001013031.2,NM_001206569.1,NM_001206570.1,NM_001206571.1,NM_001206572.1,NM_052918.4	29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	781/1199,781/1180,781/1131,781/1160,781/1180,781/1169	108412274	1,13005	2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108412274C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2341G>A	10.37:g.108412274C>T	ENSP00000263054:p.Val781Ile					SORCS1_uc001kyl.2_Missense_Mutation_p.V781I|SORCS1_uc009xxs.2_Missense_Mutation_p.V781I|SORCS1_uc001kyn.1_Missense_Mutation_p.V781I|SORCS1_uc001kyo.2_Missense_Mutation_p.V781I	p.V781I	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	18	2349	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	781			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2341G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501295	0.64298	0.0	1.16E-4	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.68765	-0.35;-0.35;-0.35	5.74	5.74	0.90152	VPS10 (1);PKD domain (1);	0.071773	0.56097	D	0.000031	T	0.66426	0.2788	L	0.49571	1.57	0.49687	D	0.999816	P;P;P;P;P	0.47910	0.841;0.902;0.902;0.841;0.902	B;B;B;B;B	0.43508	0.241;0.422;0.422;0.241;0.422	T	0.65022	-0.6269	9	.	.	.	-18.4518	19.9145	0.97053	0.0:1.0:0.0:0.0	.	781;781;781;781;781	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	I	316;781;781	ENSP00000358712:V316I;ENSP00000263054:V781I;ENSP00000345964:V781I	.	V	-	1	0	SORCS1	108402264	1.000000	0.71417	0.990000	0.47175	0.865000	0.49528	5.631000	0.67812	2.709000	0.92574	0.655000	0.94253	GTA		0.493	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4		NM_052918		32	95	0	0	0	1	0	32	95		
DCLRE1A	9937	broad.mit.edu	37	10	115607068	115607068	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:115607068G>A	ENST00000361384.2	-	3	3069	c.2152C>T	c.(2152-2154)Cag>Tag	p.Q718*	DCLRE1A_ENST00000369305.1_Nonsense_Mutation_p.Q718*	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	718					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		ACGCCATACTGAAAGGCATCA	0.378								Other identified genes with known or suspected DNA repair function																														uc001law.2		NaN																	0				skin(2)	2						c.(2152-2154)CAG>TAG	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA cross-link repair 1A							97.0	91.0	93.0					10																	115607068		2203	4300	6503	SO:0001587	stop_gained	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115607068G>A		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2152C>T	10.37:g.115607068G>A	ENSP00000355185:p.Gln718*						p.Q718*	NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	3	3070	-			718					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Nonsense_Mutation	SNP	ENST00000361384.2	37	c.2152C>T	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	G	48	14.496792	0.99798	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	.	.	.	6.03	6.03	0.97812	.	0.135779	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-7.0682	18.7374	0.91761	0.0:0.0:1.0:0.0	.	.	.	.	X	718	.	ENSP00000355185:Q718X	Q	-	1	0	DCLRE1A	115597058	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.244000	0.65400	2.861000	0.98227	0.655000	0.94253	CAG		0.378	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1		NM_014881		47	53	0	0	0	1	0	47	53		
VWA2	340706	broad.mit.edu	37	10	116045895	116045895	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:116045895G>C	ENST00000392982.3	+	11	1445	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	VWA2_ENST00000603594.1_Missense_Mutation_p.E399Q			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	399	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GCCTGTGGGGGAGTACCAGGA	0.682																																						uc001lbl.1		NaN																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(1195-1197)GAG>CAG		von Willebrand factor A domain containing 2							78.0	73.0	75.0					10																	116045895		2203	4300	6503	SO:0001583	missense	340706					extracellular region		g.chr10:116045895G>C	AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1195G>C	10.37:g.116045895G>C	ENSP00000376708:p.Glu399Gln					VWA2_uc001lbk.1_Missense_Mutation_p.E399Q|VWA2_uc009xyf.1_Missense_Mutation_p.E95Q	p.E399Q	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN		Epithelial(162;0.036)|all cancers(201;0.0793)	11	1516	+			399			VWFA 2.		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37	c.1195G>C		.	.	.	.	.	.	.	.	.	.	G	8.296	0.818754	0.16607	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	T	0.78364	-1.17	5.6	4.69	0.59074	von Willebrand factor, type A (3);	0.227462	0.42053	D	0.000780	T	0.63117	0.2484	N	0.25957	0.775	0.25266	N	0.989559	P;P;P	0.36354	0.48;0.549;0.494	B;B;B	0.36567	0.187;0.228;0.146	T	0.53085	-0.8488	10	0.14252	T	0.57	.	11.2159	0.48825	0.0723:0.1269:0.8008:0.0	.	95;399;399	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	Q	399	ENSP00000376708:E399Q	ENSP00000298715:E399Q	E	+	1	0	VWA2	116035885	0.990000	0.36364	0.996000	0.52242	0.370000	0.29829	2.133000	0.42093	2.625000	0.88918	0.563000	0.77884	GAG		0.682	VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3		NM_198496		67	136	0	0	0	1	0	67	136		
ATRNL1	26033	broad.mit.edu	37	10	117045884	117045884	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:117045884G>A	ENST00000355044.3	+	15	2518	c.2392G>A	c.(2392-2394)Gaa>Aaa	p.E798K		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	798	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGTTCTGGATGAAATACAGAA	0.269																																						uc001lcg.2		NaN																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(2392-2394)GAA>AAA		attractin-like 1 precursor							71.0	75.0	74.0					10																	117045884		2203	4298	6501	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117045884G>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2392G>A	10.37:g.117045884G>A	ENSP00000347152:p.Glu798Lys						p.E798K	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	15	2778	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	798			C-type lectin.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.2392G>A	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077020	0.94000	.	.	ENSG00000107518	ENST00000355044	T	0.16457	2.34	5.37	5.37	0.77165	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.85682	D	0.000000	T	0.40743	0.1129	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.02668	-1.1126	10	0.34782	T	0.22	-22.4435	19.4734	0.94973	0.0:0.0:1.0:0.0	.	798	Q5VV63	ATRN1_HUMAN	K	798	ENSP00000347152:E798K	ENSP00000347152:E798K	E	+	1	0	ATRNL1	117035874	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.322000	0.96357	2.690000	0.91761	0.460000	0.39030	GAA		0.269	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3		XM_049349		35	71	0	0	0	1	0	35	71		
ADAM12	8038	broad.mit.edu	37	10	127824155	127824155	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:127824155G>A	ENST00000368679.4	-	5	732	c.423C>T	c.(421-423)ctC>ctT	p.L141L	ADAM12_ENST00000368676.4_Silent_p.L141L	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	141					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCACTTACCTGAGACCAGAAC	0.512																																						uc001ljk.2		NaN																	0				breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9						c.(421-423)CTC>CTT		ADAM metallopeptidase domain 12 isoform 1							152.0	114.0	127.0					10																	127824155		2203	4300	6503	SO:0001819	synonymous_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127824155G>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.423C>T	10.37:g.127824155G>A						ADAM12_uc010qul.1_Silent_p.L138L|ADAM12_uc001ljm.2_Silent_p.L141L|ADAM12_uc001ljn.2_Silent_p.L138L|ADAM12_uc001ljl.3_Silent_p.L138L	p.L141L	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	5	836	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	141					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	c.423C>T	CCDS7653.1																																																																																				0.512	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1				32	67	0	0	0	1	0	32	67		
C10orf90	118611	broad.mit.edu	37	10	128192934	128192934	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:128192934G>C	ENST00000284694.7	-	3	955	c.835C>G	c.(835-837)Caa>Gaa	p.Q279E	C10orf90_ENST00000454341.1_Missense_Mutation_p.Q279E|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.Q232E|C10orf90_ENST00000544758.1_Missense_Mutation_p.Q376E|C10orf90_ENST00000392694.1_Missense_Mutation_p.Q232E	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	279					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CTGGCAATTTGAGGTGGCTCA	0.502											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ljq.2		NaN																	0				ovary(1)|skin(1)	2						c.(835-837)CAA>GAA		hypothetical protein LOC118611							145.0	150.0	148.0					10																	128192934		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128192934G>C	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.835C>G	10.37:g.128192934G>C	ENSP00000284694:p.Gln279Glu		OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1563	C10orf90_uc001ljp.2_Missense_Mutation_p.Q232E|C10orf90_uc010qum.1_Missense_Mutation_p.Q376E|C10orf90_uc009yao.2_Missense_Mutation_p.Q376E|C10orf90_uc001ljs.1_Missense_Mutation_p.Q232E	p.Q279E	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	3	956	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	279					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.835C>G	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464163	0.26335	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.25085	2.13;2.13;2.15;2.13;1.82	5.38	3.52	0.40303	.	0.809807	0.10710	N	0.642911	T	0.21761	0.0524	L	0.46157	1.445	0.09310	N	1	B;P;B;B;B	0.38370	0.372;0.628;0.372;0.372;0.372	B;B;B;B;B	0.34489	0.083;0.184;0.083;0.083;0.083	T	0.10245	-1.0638	10	0.40728	T	0.16	-0.4921	8.669	0.34138	0.0797:0.1519:0.7684:0.0	.	376;376;232;279;279	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	E	232;279;279;376;279;232;232	ENSP00000284694:Q279E;ENSP00000398786:Q279E;ENSP00000444369:Q376E;ENSP00000405995:Q279E;ENSP00000376459:Q232E	ENSP00000284694:Q279E	Q	-	1	0	C10orf90	128182924	0.905000	0.30787	0.001000	0.08648	0.022000	0.10575	1.706000	0.37878	0.815000	0.34398	0.655000	0.94253	CAA		0.502	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001004298		76	144	0	0	0	1	0	76	144		
MKI67	4288	broad.mit.edu	37	10	129902126	129902126	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:129902126C>G	ENST00000368654.3	-	13	8353	c.7978G>C	c.(7978-7980)Gaa>Caa	p.E2660Q	MKI67_ENST00000368653.3_Missense_Mutation_p.E2300Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2660	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGCTGGGTTCCTCTTCTACT	0.517																																						uc001lke.2		NaN																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(7978-7980)GAA>CAA		antigen identified by monoclonal antibody Ki-67							171.0	179.0	176.0					10																	129902126		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129902126C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7978G>C	10.37:g.129902126C>G	ENSP00000357643:p.Glu2660Gln					MKI67_uc001lkf.2_Missense_Mutation_p.E2300Q|MKI67_uc009yav.1_Missense_Mutation_p.E2235Q|MKI67_uc009yaw.1_Missense_Mutation_p.E1810Q	p.E2660Q	NM_002417	NP_002408	P46013	KI67_HUMAN			13	8173	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2660			14.|16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.7978G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298227	0.40694	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02140	4.43;4.43	3.34	-2.56	0.06268	.	1.572440	0.04397	N	0.363447	T	0.03348	0.0097	L	0.29908	0.895	0.09310	N	1	P;P;D	0.59357	0.921;0.867;0.985	B;P;P	0.57057	0.332;0.451;0.812	T	0.41840	-0.9486	10	0.15499	T	0.54	.	2.5284	0.04696	0.3948:0.2669:0.0:0.3383	.	2659;2300;2660	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	2660;2300;2659	ENSP00000357643:E2660Q;ENSP00000357642:E2300Q	ENSP00000357642:E2300Q	E	-	1	0	MKI67	129792116	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.233000	0.09041	-0.262000	0.09392	-0.253000	0.11424	GAA		0.517	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1		NM_002417		83	70	0	0	0	1	0	83	70		
MKI67	4288	broad.mit.edu	37	10	129906114	129906114	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:129906114C>G	ENST00000368654.3	-	13	4365	c.3990G>C	c.(3988-3990)aaG>aaC	p.K1330N	MKI67_ENST00000368653.3_Missense_Mutation_p.K970N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1330	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTGGCCGTCTCTTGCTGCCGG	0.502																																						uc001lke.2		NaN																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(3988-3990)AAG>AAC		antigen identified by monoclonal antibody Ki-67							171.0	171.0	171.0					10																	129906114		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906114C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3990G>C	10.37:g.129906114C>G	ENSP00000357643:p.Lys1330Asn					MKI67_uc001lkf.2_Missense_Mutation_p.K970N|MKI67_uc009yav.1_Missense_Mutation_p.K905N|MKI67_uc009yaw.1_Missense_Mutation_p.K480N	p.K1330N	NM_002417	NP_002408	P46013	KI67_HUMAN			13	4185	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1330			16 X 122 AA approximate repeats.|3.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3990G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296520	0.40594	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03607	3.87;3.87	4.23	1.32	0.21799	.	0.749621	0.11349	N	0.573178	T	0.13372	0.0324	M	0.70595	2.14	0.09310	N	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.72338	0.974;0.974;0.977	T	0.14504	-1.0470	10	0.37606	T	0.19	.	8.0957	0.30826	0.0:0.5692:0.0:0.4308	.	1329;970;1330	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	N	1330;970;1329	ENSP00000357643:K1330N;ENSP00000357642:K970N	ENSP00000357642:K970N	K	-	3	2	MKI67	129796104	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.044000	0.12023	0.045000	0.15804	0.561000	0.74099	AAG		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1		NM_002417		123	124	0	0	0	1	0	123	124		
KNDC1	85442	broad.mit.edu	37	10	135003134	135003134	+	Missense_Mutation	SNP	G	G	C	rs143362573		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr10:135003134G>C	ENST00000304613.3	+	8	1495	c.1474G>C	c.(1474-1476)Gag>Cag	p.E492Q	KNDC1_ENST00000368572.2_Missense_Mutation_p.E492Q|KNDC1_ENST00000368571.2_Missense_Mutation_p.E427Q			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	492	KIND 2. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCTGGTTGCTGAGGACGGGGC	0.672																																						uc001llz.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1474-1476)GAG>CAG		kinase non-catalytic C-lobe domain (KIND)							87.0	72.0	77.0					10																	135003134		2201	4299	6500	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135003134G>C	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1474G>C	10.37:g.135003134G>C	ENSP00000304437:p.Glu492Gln					KNDC1_uc001lma.1_Missense_Mutation_p.E427Q	p.E492Q	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	8	1475	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	492			KIND 2.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.1474G>C	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256653	0.39896	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.11385	2.78;2.78;2.78	4.21	1.02	0.19986	KIND (2);	0.359937	0.22988	U	0.053222	T	0.15176	0.0366	L	0.56769	1.78	0.09310	N	1	P;D	0.58268	0.936;0.982	P;P	0.53006	0.534;0.715	T	0.07271	-1.0781	10	0.56958	D	0.05	-15.6332	4.2116	0.10514	0.2186:0.0:0.5999:0.1814	.	427;492	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	Q	492;492;427	ENSP00000304437:E492Q;ENSP00000357561:E492Q;ENSP00000357560:E427Q	ENSP00000304437:E492Q	E	+	1	0	KNDC1	134853124	0.143000	0.22626	0.411000	0.26484	0.810000	0.45777	0.023000	0.13533	0.342000	0.23796	0.573000	0.79308	GAG		0.672	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3		NM_152643		31	25	0	0	0	1	0	31	25		
OR52I1	390037	broad.mit.edu	37	11	4615695	4615695	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:4615695C>G	ENST00000530443.2	+	1	427	c.427C>G	c.(427-429)Caa>Gaa	p.Q143E	OR52I1_ENST00000450052.2_Missense_Mutation_p.Q167E	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTCACGCCTCAAGTGATGCT	0.507																																						uc010qyi.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(427-429)CAA>GAA		olfactory receptor, family 52, subfamily I,							86.0	78.0	81.0					11																	4615695		2201	4298	6499	SO:0001583	missense	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615695C>G	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.427C>G	11.37:g.4615695C>G	ENSP00000436453:p.Gln143Glu						p.Q143E	NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	427	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	143			Cytoplasmic (Potential).		Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	c.427C>G	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	C	0.215	-1.033657	0.02029	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.37584	1.19;1.19	4.96	0.104	0.14531	GPCR, rhodopsin-like superfamily (1);	1.052130	0.07549	N	0.915053	T	0.33469	0.0864	L	0.52759	1.655	0.22521	N	0.999022	B	0.24675	0.109	B	0.23852	0.049	T	0.43940	-0.9360	9	0.20519	T	0.43	1.9863	13.536	0.61646	0.4659:0.5341:0.0:0.0	.	143	Q8NGK6	O52I1_HUMAN	E	167;143	ENSP00000409094:Q167E;ENSP00000436453:Q143E	ENSP00000409094:Q167E	Q	+	1	0	OR52I1	4572271	0.000000	0.05858	0.288000	0.24862	0.305000	0.27757	-1.326000	0.02685	0.219000	0.20840	0.555000	0.69702	CAA		0.507	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2		NM_001005169		53	10	0	0	0	1	0	53	10		
OR52A4	390053	broad.mit.edu	37	11	5142104	5142104	+	RNA	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:5142104C>T	ENST00000498233.1	-	0	1014							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GTGCCTCTTTCAGAGGCAAGT	0.358																																						uc001lzz.1		NaN																	0				ovary(2)	2						c.(703-705)CTG>CTA		olfactory receptor, family 52, subfamily A,							41.0	47.0	45.0					11																	5142104		2195	4295	6490			390053							g.chr11:5142104C>T			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142104C>T							p.L235L	NM_001005222	NP_001005222				Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	705	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							Silent	SNP	ENST00000498233.1	37	c.705G>A																																																																																					0.358	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1		NG_029079		43	5	0	0	0	1	0	43	5		
IPO7	10527	broad.mit.edu	37	11	9455272	9455272	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:9455272C>G	ENST00000379719.3	+	18	2095	c.1953C>G	c.(1951-1953)ttC>ttG	p.F651L	CTD-2371O3.2_ENST00000531111.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	651					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTTTAGAATTCTATGAGGAGA	0.383																																						uc001mho.2		NaN																	0				lung(1)|breast(1)	2						c.(1951-1953)TTC>TTG		importin 7							88.0	83.0	85.0					11																	9455272		2201	4295	6496	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9455272C>G	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.1953C>G	11.37:g.9455272C>G	ENSP00000369042:p.Phe651Leu						p.F651L	NM_006391	NP_006382	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	18	2095	+			651					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.1953C>G	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974055	0.53720	.	.	ENSG00000205339	ENST00000379719	T	0.50548	0.74	5.08	5.08	0.68730	Armadillo-like helical (1);Armadillo-type fold (1);	0.176676	0.64402	D	0.000018	T	0.39759	0.1090	L	0.33293	1	0.54753	D	0.999983	B	0.30021	0.265	B	0.35312	0.2	T	0.23261	-1.0193	10	0.30854	T	0.27	.	12.9246	0.58252	0.0:0.9215:0.0:0.0785	.	651	O95373	IPO7_HUMAN	L	651	ENSP00000369042:F651L	ENSP00000369042:F651L	F	+	3	2	IPO7	9411848	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.231000	0.32624	2.384000	0.81235	0.460000	0.39030	TTC		0.383	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1		NM_006391		59	6	0	0	0	1	0	59	6		
EIF3M	10480	broad.mit.edu	37	11	32610646	32610646	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:32610646G>A	ENST00000531120.1	+	4	466	c.403G>A	c.(403-405)Ggg>Agg	p.G135R	EIF3M_ENST00000524896.1_Intron	NM_006360.4	NP_006351.2			eukaryotic translation initiation factor 3, subunit M											breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					AGCATCTTGTGGGGCCATCCA	0.408																																						uc001mtu.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(403-405)GGG>AGG		eukaryotic translation initiation factor 3,							111.0	97.0	102.0					11																	32610646		2202	4299	6501	SO:0001583	missense	10480					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:32610646G>A	AK131064	CCDS7880.1	11p13	2012-12-13	2007-07-27	2007-07-27	ENSG00000149100	ENSG00000149100			24460	protein-coding gene	gene with protein product	"""transport and golgi organization 7 homolog (Drosophila)"""	609641	"""PCI domain containing 1 (herpesvirus entry mediator)"""	PCID1		15919898, 15919899	Standard	NM_006360		Approved	hfl-B5, FLJ29030, GA17, eIF3m, TANGO7	uc001mtu.4	Q7L2H7	OTTHUMG00000166258	ENST00000531120.1:c.403G>A	11.37:g.32610646G>A	ENSP00000436049:p.Gly135Arg					EIF3M_uc010ref.1_Intron	p.G135R	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN			4	446	+	Breast(20;0.109)		135						Missense_Mutation	SNP	ENST00000531120.1	37	c.403G>A	CCDS7880.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577315	0.45902	.	.	ENSG00000149100	ENST00000531120;ENST00000323213;ENST00000533439	T;T	0.46451	0.87;0.87	5.81	5.81	0.92471	.	0.138188	0.64402	D	0.000003	T	0.32526	0.0832	L	0.28115	0.83	0.80722	D	1	B	0.34015	0.435	B	0.27715	0.082	T	0.05022	-1.0911	10	0.30854	T	0.27	-34.1454	20.0797	0.97768	0.0:0.0:1.0:0.0	.	135	Q7L2H7	EIF3M_HUMAN	R	135;72;72	ENSP00000436049:G135R;ENSP00000319910:G72R	ENSP00000319910:G72R	G	+	1	0	EIF3M	32567222	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	6.943000	0.75934	2.752000	0.94435	0.467000	0.42956	GGG		0.408	EIF3M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388762.2		NM_006360		33	80	0	0	0	1	0	33	80		
FBXO3	26273	broad.mit.edu	37	11	33763508	33763508	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:33763508C>G	ENST00000265651.3	-	11	1380	c.1362G>C	c.(1360-1362)cgG>cgC	p.R454R	FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000531080.1_Silent_p.R141R|FBXO3_ENST00000532057.1_Silent_p.R141R|FBXO3_ENST00000526785.1_Silent_p.R341R	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	454	Poly-Arg.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		AGACTCTCCTCCGTCTCTCCT	0.478																																						uc001muz.2		NaN																	0				pancreas(1)	1						c.(1360-1362)CGG>CGC		F-box only protein 3 isoform 1							230.0	176.0	194.0					11																	33763508		2202	4298	6500	SO:0001819	synonymous_variant	26273				proteolysis	nucleus	ubiquitin-protein ligase activity	g.chr11:33763508C>G	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.1362G>C	11.37:g.33763508C>G						FBXO3_uc010rej.1_Silent_p.R141R|FBXO3_uc001muy.2_Silent_p.R341R|FBXO3_uc009ykb.2_RNA	p.R454R	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	11	1390	-		Lung NSC(402;0.0804)	454			Poly-Arg.		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Silent	SNP	ENST00000265651.3	37	c.1362G>C	CCDS7887.1																																																																																				0.478	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1		NM_012175		58	11	0	0	0	1	0	58	11		
LRP4	4038	broad.mit.edu	37	11	46916251	46916251	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:46916251G>A	ENST00000378623.1	-	12	1671	c.1429C>T	c.(1429-1431)Cac>Tac	p.H477Y		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	477					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCGCGGCGGTGGTGGAAATCA	0.582																																						uc001ndn.3		NaN																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1429-1431)CAC>TAC		low density lipoprotein receptor-related protein							106.0	101.0	102.0					11																	46916251		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46916251G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1429C>T	11.37:g.46916251G>A	ENSP00000367888:p.His477Tyr						p.H477Y	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	12	1575	-			477			Extracellular (Potential).		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.1429C>T	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570325	0.28003	.	.	ENSG00000134569	ENST00000378623	D	0.90955	-2.76	5.59	5.59	0.84812	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75236	0.3822	N	0.01284	-0.91	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	T	0.73867	-0.3847	10	0.02654	T	1	.	19.5965	0.95541	0.0:0.0:1.0:0.0	.	477	O75096	LRP4_HUMAN	Y	477	ENSP00000367888:H477Y	ENSP00000367888:H477Y	H	-	1	0	LRP4	46872827	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	9.466000	0.97665	2.627000	0.88993	0.643000	0.83706	CAC		0.582	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1		NM_002334		81	9	0	0	0	1	0	81	9		
SLC43A1	8501	broad.mit.edu	37	11	57256845	57256845	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:57256845G>C	ENST00000278426.3	-	12	1569	c.1214C>G	c.(1213-1215)tCc>tGc	p.S405C	SLC43A1_ENST00000533515.1_5'Flank|SLC43A1_ENST00000528450.1_Missense_Mutation_p.S405C	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TGGTCTGATGGATTTGGTAGC	0.577																																						uc001nkk.2		NaN																	0					0						c.(1213-1215)TCC>TGC		solute carrier family 43, member 1							413.0	325.0	355.0					11																	57256845		2201	4296	6497	SO:0001583	missense	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57256845G>C	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.1214C>G	11.37:g.57256845G>C	ENSP00000278426:p.Ser405Cys					SLC43A1_uc001nkl.2_Missense_Mutation_p.S405C	p.S405C	NM_003627	NP_003618	O75387	LAT3_HUMAN			12	1332	-			405						Missense_Mutation	SNP	ENST00000278426.3	37	c.1214C>G	CCDS7958.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.92|14.92	2.678483|2.678483	0.47886|0.47886	.|.	.|.	ENSG00000149150|ENSG00000149150	ENST00000525764|ENST00000278426;ENST00000528450	.|T;T	.|0.25250	.|1.81;1.81	4.95|4.95	2.88|2.88	0.33553|0.33553	.|Major facilitator superfamily domain, general substrate transporter (1);	.|0.639365	.|0.15127	.|N	.|0.279058	T|T	0.19604|0.19604	0.0471|0.0471	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B	.|0.29955	.|0.263	.|B	.|0.33121	.|0.158	T|T	0.18366|0.18366	-1.0339|-1.0339	5|10	.|0.52906	.|T	.|0.07	-13.7664|-13.7664	8.8629|8.8629	0.35269|0.35269	0.0991:0.1666:0.7343:0.0|0.0991:0.1666:0.7343:0.0	.|.	.|405	.|O75387	.|LAT3_HUMAN	A|C	108|405	.|ENSP00000278426:S405C;ENSP00000435673:S405C	.|ENSP00000278426:S405C	P|S	-|-	1|2	0|0	SLC43A1|SLC43A1	57013421|57013421	0.167000|0.167000	0.22975|0.22975	0.034000|0.034000	0.17996|0.17996	0.078000|0.078000	0.17371|0.17371	3.173000|3.173000	0.50839|0.50839	1.051000|1.051000	0.40369|0.40369	0.563000|0.563000	0.77884|0.77884	CCA|TCC		0.577	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1		NM_003627		44	130	0	0	0	1	0	44	130		
ASRGL1	80150	broad.mit.edu	37	11	62159721	62159721	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:62159721G>C	ENST00000415229.2	+	7	1107	c.892G>C	c.(892-894)Gat>Cat	p.D298H	ASRGL1_ENST00000301776.5_Missense_Mutation_p.D298H|CTD-2531D15.5_ENST00000526045.1_RNA	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	298					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	CTTCGGAATTGATCCTGACGA	0.527											OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001nte.3		NaN																	0					0						c.(892-894)GAT>CAT		asparaginase-like 1	L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)						99.0	85.0	90.0					11																	62159721		2202	4299	6501	SO:0001583	missense	80150				asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr11:62159721G>C		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"""asparaginase-like 1 protein"""	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.892G>C	11.37:g.62159721G>C	ENSP00000400057:p.Asp298His		OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1059	ASRGL1_uc001ntf.3_Missense_Mutation_p.D298H|ASRGL1_uc001ntg.3_Missense_Mutation_p.D170H	p.D298H	NM_025080	NP_079356	Q7L266	ASGL1_HUMAN			7	1176	+			298					B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Missense_Mutation	SNP	ENST00000415229.2	37	c.892G>C	CCDS8019.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899878	0.33535	.	.	ENSG00000162174	ENST00000415229;ENST00000301776	D;D	0.94793	-3.52;-3.52	5.24	0.102	0.14522	.	0.502864	0.23382	N	0.048795	D	0.87609	0.6220	L	0.41710	1.295	0.09310	N	1	B	0.29716	0.255	B	0.31290	0.127	T	0.75130	-0.3426	10	0.21540	T	0.41	-12.1929	3.3361	0.07102	0.3163:0.0:0.3911:0.2926	.	298	Q7L266	ASGL1_HUMAN	H	298	ENSP00000400057:D298H;ENSP00000301776:D298H	ENSP00000301776:D298H	D	+	1	0	ASRGL1	61916297	0.065000	0.20965	0.001000	0.08648	0.066000	0.16364	0.483000	0.22292	0.210000	0.20664	0.655000	0.94253	GAT		0.527	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394865.1		NM_001083926		29	60	0	0	0	1	0	29	60		
INTS5	80789	broad.mit.edu	37	11	62414897	62414897	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:62414897G>A	ENST00000330574.2	-	2	2707	c.2655C>T	c.(2653-2655)ctC>ctT	p.L885L	GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000356638.3_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	885					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AATGGCCCAAGAGGGCGGCCA	0.642																																						uc001nud.2		NaN																	0				ovary(2)	2						c.(2653-2655)CTC>CTT		integrator complex subunit 5							49.0	55.0	53.0					11																	62414897		2202	4299	6501	SO:0001819	synonymous_variant	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62414897G>A	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2655C>T	11.37:g.62414897G>A						GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	p.L885L	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	2708	-			885					Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	c.2655C>T	CCDS8027.1																																																																																				0.642	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1		NM_030628		32	72	0	0	0	1	0	32	72		
INTS5	80789	broad.mit.edu	37	11	62416485	62416485	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:62416485G>C	ENST00000330574.2	-	2	1119	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000356638.3_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	356					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AAGCTCTCCAGAGACAGTGCC	0.607																																						uc001nud.2		NaN																	0				ovary(2)	2						c.(1066-1068)TCT>TGT		integrator complex subunit 5							50.0	54.0	53.0					11																	62416485		2202	4299	6501	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62416485G>C	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1067C>G	11.37:g.62416485G>C	ENSP00000327889:p.Ser356Cys					GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	p.S356C	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	1120	-			356					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.1067C>G	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	G	8.832	0.940162	0.18281	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.73	4.73	0.59995	.	0.064020	0.64402	D	0.000005	T	0.41143	0.1146	N	0.20685	0.6	0.39161	D	0.962419	B	0.21520	0.057	B	0.18561	0.022	T	0.39440	-0.9614	9	0.46703	T	0.11	.	10.9991	0.47593	0.0:0.1886:0.8114:0.0	.	356	Q6P9B9	INT5_HUMAN	C	356	.	ENSP00000327889:S356C	S	-	2	0	INTS5	62173061	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.113000	0.77095	2.462000	0.83206	0.650000	0.86243	TCT		0.607	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1		NM_030628		43	96	0	0	0	1	0	43	96		
METTL12	751071	broad.mit.edu	37	11	62434355	62434355	+	Missense_Mutation	SNP	G	G	T	rs375255311		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:62434355G>T	ENST00000532971.1	+	3	812	c.555G>T	c.(553-555)ttG>ttT	p.L185F	C11orf48_ENST00000431002.2_Intron|SNORA57_ENST00000383870.1_RNA|C11orf48_ENST00000532208.1_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000354588.3_Intron|C11orf48_ENST00000524958.1_5'Flank|C11orf48_ENST00000525675.1_5'Flank|RP11-831H9.11_ENST00000528405.1_5'Flank	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12	185						mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						CAGAATGCTTGAGGGTTCTAA	0.547																																						uc001nug.1		NaN																	0					0						c.(553-555)TTG>TTT		methyltransferase like 12 precursor							50.0	51.0	51.0					11																	62434355		1902	4132	6034	SO:0001583	missense	751071					mitochondrion	methyltransferase activity	g.chr11:62434355G>T	BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.555G>T	11.37:g.62434355G>T	ENSP00000431287:p.Leu185Phe					C11orf48_uc001nue.2_Intron|C11orf48_uc001nuf.2_Intron|METTL12_uc001nuh.2_3'UTR|METTL12_uc010rmc.1_RNA	p.L185F	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN			3	814	+			185					B7Z4C1	Missense_Mutation	SNP	ENST00000532971.1	37	c.555G>T	CCDS41657.1	.	.	.	.	.	.	.	.	.	.	G	9.787	1.176776	0.21704	.	.	ENSG00000214756	ENST00000532971	T	0.43688	0.94	4.36	-4.47	0.03525	Methyltransferase type 11 (1);	0.144353	0.28583	U	0.014823	T	0.25494	0.0620	L	0.31420	0.93	0.20764	N	0.999858	P	0.44195	0.828	P	0.50314	0.637	T	0.39683	-0.9602	10	0.10111	T	0.7	-15.3702	1.3802	0.02229	0.1534:0.2184:0.2962:0.332	.	185	A8MUP2	MTL12_HUMAN	F	185	ENSP00000431287:L185F	ENSP00000431287:L185F	L	+	3	2	METTL12	62190931	0.907000	0.30839	0.517000	0.27799	0.077000	0.17291	-0.203000	0.09438	-0.625000	0.05604	-1.105000	0.02106	TTG		0.547	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394990.1		NM_001043229		21	28	1	0	5.26018e-13	1	5.41022e-13	21	28		
FKBP2	2286	broad.mit.edu	37	11	64011466	64011466	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:64011466G>C	ENST00000394540.3	+	6	864	c.394G>C	c.(394-396)Gag>Cag	p.E132Q	FKBP2_ENST00000449942.2_Missense_Mutation_p.E132Q|RP11-783K16.5_ENST00000544553.1_RNA|RP11-783K16.13_ENST00000545800.1_lincRNA|FKBP2_ENST00000309366.4_Missense_Mutation_p.E132Q	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	132	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(2)|lung(3)	5						GTTCGAGGTGGAGCTGCTCAA	0.582																																						uc001nyy.2		NaN																	0					0						c.(394-396)GAG>CAG		FK506 binding protein 2, 13kDa precursor							87.0	88.0	88.0					11																	64011466		2201	4297	6498	SO:0001583	missense	2286				protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr11:64011466G>C	M75099	CCDS8063.1	11q13.1-q13.3	2008-07-18	2002-08-29			ENSG00000173486			3718	protein-coding gene	gene with protein product	"""FK506 binding protein 2 (13kD)"", ""peptidyl-prolyl cis-trans isomerase"", ""rapamycin-binding protein"", ""proline isomerase"""	186946	"""FK506-binding protein 2 (13kD)"""			1713687	Standard	NM_004470		Approved	FKBP-13, PPIase	uc001nyy.3	P26885		ENST00000394540.3:c.394G>C	11.37:g.64011466G>C	ENSP00000378046:p.Glu132Gln					FKBP2_uc010rnh.1_Missense_Mutation_p.E132Q|FKBP2_uc001nyz.2_Missense_Mutation_p.E132Q	p.E132Q	NM_004470	NP_004461	P26885	FKBP2_HUMAN			6	590	+			132			PPIase FKBP-type.		Q5BJH9|Q9BTS7	Missense_Mutation	SNP	ENST00000394540.3	37	c.394G>C	CCDS8063.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613508	0.66672	.	.	ENSG00000173486	ENST00000309366;ENST00000449942;ENST00000394540	T;T;T	0.61627	0.09;0.09;0.09	4.04	3.1	0.35709	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.64402	D	0.000001	T	0.75961	0.3921	M	0.85710	2.77	0.58432	D	0.999999	D	0.67145	0.996	D	0.71414	0.973	T	0.79659	-0.1711	10	0.87932	D	0	-23.0536	12.7197	0.57136	0.0:0.1677:0.8322:0.0	.	132	P26885	FKBP2_HUMAN	Q	132	ENSP00000310935:E132Q;ENSP00000398147:E132Q;ENSP00000378046:E132Q	ENSP00000310935:E132Q	E	+	1	0	FKBP2	63768042	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	8.548000	0.90669	0.788000	0.33755	0.462000	0.41574	GAG		0.582	FKBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396401.2		NM_004470		52	118	0	0	0	1	0	52	118		
GPR137	56834	broad.mit.edu	37	11	64054470	64054470	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:64054470G>C	ENST00000313074.3	+	2	496	c.391G>C	c.(391-393)Gag>Cag	p.E131Q	BAD_ENST00000394532.3_5'Flank|GPR137_ENST00000438980.2_Missense_Mutation_p.E131Q|BAD_ENST00000309032.3_5'Flank|BAD_ENST00000544785.1_5'Flank|BAD_ENST00000394531.3_5'Flank|GPR137_ENST00000411458.1_Missense_Mutation_p.E189Q|GPR137_ENST00000539851.1_Missense_Mutation_p.E131Q|GPR137_ENST00000377702.4_Missense_Mutation_p.E131Q	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	131						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GCGTCGGCCGGAGATGAGCCG	0.632																																						uc001nzg.1		NaN																	0				central_nervous_system(1)	1						c.(391-393)GAG>CAG		G protein-coupled receptor 137							64.0	49.0	54.0					11																	64054470		2201	4297	6498	SO:0001583	missense	56834					integral to membrane		g.chr11:64054470G>C	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.391G>C	11.37:g.64054470G>C	ENSP00000321698:p.Glu131Gln					BAD_uc001nzd.2_5'Flank|BAD_uc001nzc.2_5'Flank|GPR137_uc009ypj.1_Missense_Mutation_p.E137Q|BAD_uc009ypk.2_5'Flank|GPR137_uc010rni.1_Missense_Mutation_p.E189Q|GPR137_uc001nze.1_Missense_Mutation_p.E131Q|GPR137_uc001nzf.2_Missense_Mutation_p.E131Q|GPR137_uc001nzh.1_Missense_Mutation_p.E131Q|GPR137_uc001nzi.2_Missense_Mutation_p.E131Q|GPR137_uc010rnj.1_Missense_Mutation_p.E131Q	p.E131Q	NM_020155	NP_064540	Q96N19	G137A_HUMAN			3	699	+			131			Cytoplasmic (Potential).		B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	ENST00000313074.3	37	c.391G>C	CCDS8066.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413184	0.42817	.	.	ENSG00000173264	ENST00000546139;ENST00000411458;ENST00000539851;ENST00000536667;ENST00000539833;ENST00000377702;ENST00000535675;ENST00000543383;ENST00000538032;ENST00000540969;ENST00000438980;ENST00000313074;ENST00000542190;ENST00000541952	T;T;T;T;T	0.50001	0.76;0.8;0.8;0.78;0.78	3.91	2.96	0.34315	.	0.178614	0.37012	N	0.002283	T	0.34250	0.0891	L	0.36672	1.1	0.27207	N	0.960004	B;B;D;B;B;B;D	0.55172	0.002;0.011;0.97;0.001;0.001;0.001;0.97	B;B;B;B;B;B;B	0.40602	0.001;0.007;0.334;0.003;0.001;0.007;0.334	T	0.24012	-1.0172	10	0.56958	D	0.05	-8.0762	9.1116	0.36732	0.0:0.2243:0.7757:0.0	.	131;189;137;131;131;131;131	B7Z7M1;B4DTG7;F5H234;Q96N19-2;F5GXI8;Q96N19;Q96N19-3	.;.;.;.;.;G137A_HUMAN;.	Q	137;189;131;19;131;131;131;131;131;131;131;131;131;131	ENSP00000411827:E189Q;ENSP00000442792:E131Q;ENSP00000441003:E131Q;ENSP00000415698:E131Q;ENSP00000321698:E131Q	ENSP00000321698:E131Q	E	+	1	0	GPR137	63811046	0.376000	0.25098	0.975000	0.42487	0.963000	0.63663	0.430000	0.21428	0.817000	0.34445	0.561000	0.74099	GAG		0.632	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1		NM_020155		10	22	0	0	0	1	0	10	22		
ATG2A	23130	broad.mit.edu	37	11	64662883	64662883	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:64662883G>T	ENST00000377264.3	-	40	5571	c.5459C>A	c.(5458-5460)tCc>tAc	p.S1820Y	ATG2A_ENST00000421419.2_Missense_Mutation_p.S1822Y	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1820					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGCTGCCGGGGACAGGATGTC	0.701																																						uc001obx.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(5458-5460)TCC>TAC		autophagy related 2A							20.0	22.0	21.0					11																	64662883		2195	4284	6479	SO:0001583	missense	23130						protein binding	g.chr11:64662883G>T		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.5459C>A	11.37:g.64662883G>T	ENSP00000366475:p.Ser1820Tyr					uc009ypx.2_5'Flank|ATG2A_uc001obw.2_Missense_Mutation_p.S585Y	p.S1820Y	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			40	5574	-			1820					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.5459C>A	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650693	0.47362	.	.	ENSG00000110046	ENST00000421419;ENST00000377262;ENST00000377264	T;T	0.09723	2.95;2.95	3.45	3.45	0.39498	.	0.000000	0.64402	D	0.000004	T	0.36193	0.0958	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.41484	-0.9506	10	0.87932	D	0	.	12.8312	0.57746	0.0:0.0:1.0:0.0	.	1820;1822	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	Y	1822;213;1820	ENSP00000410522:S1822Y;ENSP00000366475:S1820Y	ENSP00000366473:S213Y	S	-	2	0	ATG2A	64419459	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	8.915000	0.92740	1.956000	0.56807	0.561000	0.74099	TCC		0.701	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1		NM_015104		7	9	1	0	1.26484e-09	1	1.28796e-09	7	9		
PACS1	55690	broad.mit.edu	37	11	65961019	65961019	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:65961019C>G	ENST00000320580.4	+	2	452	c.419C>G	c.(418-420)tCa>tGa	p.S140*		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	140					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GATCTTAACTCAGTGGTCATC	0.488																																						uc001oha.1		NaN																	0				ovary(6)	6						c.(418-420)TCA>TGA		phosphofurin acidic cluster sorting protein 1							103.0	89.0	94.0					11																	65961019		2201	4295	6496	SO:0001587	stop_gained	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65961019C>G	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.419C>G	11.37:g.65961019C>G	ENSP00000316454:p.Ser140*					PACS1_uc001ogz.1_Nonsense_Mutation_p.S140*	p.S140*	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN			2	553	+			140					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Nonsense_Mutation	SNP	ENST00000320580.4	37	c.419C>G	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651265	0.88056	.	.	ENSG00000175115	ENST00000320580;ENST00000533756;ENST00000527380	.	.	.	4.88	4.88	0.63580	.	0.131649	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.0717	14.954	0.71098	0.0:1.0:0.0:0.0	.	.	.	.	X	140;37;42	.	ENSP00000316454:S140X	S	+	2	0	PACS1	65717595	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	6.676000	0.74498	2.253000	0.74438	0.655000	0.94253	TCA		0.488	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2		NM_018026		21	96	0	0	0	1	0	21	96		
GPR152	390212	broad.mit.edu	37	11	67220174	67220174	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:67220174C>T	ENST00000312457.2	-	1	26	c.22G>A	c.(22-24)Gac>Aac	p.D8N	CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000325656.5_5'Flank|CABP4_ENST00000438189.2_Intron	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCACCCAGGTCAGCTTCCATG	0.602																																					Pancreas(102;800 1581 2723 7382 33622)	uc001olm.2		NaN																	0					0						c.(22-24)GAC>AAC		G protein-coupled receptor 152							48.0	51.0	50.0					11																	67220174		2176	4225	6401	SO:0001583	missense	390212					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:67220174C>T	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.22G>A	11.37:g.67220174C>T	ENSP00000310255:p.Asp8Asn					uc009yrw.1_Intron|CABP4_uc001oln.2_Intron|CABP4_uc001olo.2_5'Flank	p.D8N	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		1	27	-			8			Extracellular (Potential).		Q0VD88|Q86SM0	Missense_Mutation	SNP	ENST00000312457.2	37	c.22G>A	CCDS8165.1	.	.	.	.	.	.	.	.	.	.	C	0.440	-0.899040	0.02472	.	.	ENSG00000175514	ENST00000312457	T	0.13901	2.55	5.28	-1.57	0.08506	.	1.555240	0.04110	N	0.314446	T	0.04407	0.0121	N	0.04508	-0.205	0.19775	N	0.999959	B	0.02656	0.0	B	0.01281	0.0	T	0.28522	-1.0041	10	0.02654	T	1	.	1.2419	0.01964	0.1624:0.3462:0.167:0.3243	.	8	Q8TDT2	GP152_HUMAN	N	8	ENSP00000310255:D8N	ENSP00000310255:D8N	D	-	1	0	GPR152	66976750	0.107000	0.21998	0.871000	0.34182	0.009000	0.06853	-0.200000	0.09478	-0.145000	0.11294	-1.267000	0.01435	GAC		0.602	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397623.1				59	36	0	0	0	1	0	59	36		
UNC93B1	81622	broad.mit.edu	37	11	67759316	67759316	+	Missense_Mutation	SNP	C	C	T	rs4014596		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:67759316C>T	ENST00000227471.2	-	12	1571	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	499					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.V498M(1)									ACCAGCAGCACCGCCAGCTTA	0.741																																						uc001omw.1		NaN																	1	Substitution - Missense(1)		skin(1)		0						c.(1495-1497)GTG>ATG		unc-93 homolog B1							2.0	2.0	2.0					11																	67759316		806	1754	2560	SO:0001583	missense	81622				innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome		g.chr11:67759316C>T	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1492G>A	11.37:g.67759316C>T	ENSP00000227471:p.Val498Met						p.V499M	NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN			12	1575	-			499			Helical; (Potential).		O95764|Q569H6|Q710D4	Missense_Mutation	SNP	ENST00000227471.2	37	c.1495G>A		.	.	.	.	.	.	.	.	.	.	.	19.11	3.764070	0.69878	.	.	ENSG00000110057	ENST00000227471	D	0.82344	-1.6	4.98	2.8	0.32819	.	0.313238	0.30437	N	0.009625	T	0.66147	0.2760	N	0.19112	0.55	0.29268	N	0.870868	P	0.41265	0.744	B	0.39068	0.289	T	0.65010	-0.6272	10	0.66056	D	0.02	-19.153	2.9617	0.05895	0.2401:0.5562:0.0:0.2037	rs4014596	499	Q9H1C4	UN93B_HUMAN	M	498	ENSP00000227471:V498M	ENSP00000227471:V498M	V	-	1	0	UNC93B1	67515892	0.992000	0.36948	1.000000	0.80357	0.856000	0.48823	1.973000	0.40550	2.318000	0.78349	0.491000	0.48974	GTG		0.741	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_030930		3	28	0	0	0	1	0	3	28		
SUV420H1	51111	broad.mit.edu	37	11	67957499	67957499	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:67957499C>G	ENST00000304363.4	-	2	398	c.45G>C	c.(43-45)agG>agC	p.R15S	SUV420H1_ENST00000402789.1_Missense_Mutation_p.R15S|SUV420H1_ENST00000405515.1_Missense_Mutation_p.R15S|SUV420H1_ENST00000402185.2_Missense_Mutation_p.R15S|SUV420H1_ENST00000401547.2_Missense_Mutation_p.R15S	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	15					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTCCATTTCTCCTGCCATTCA	0.473																																						uc001onm.1		NaN																	0				ovary(2)|kidney(1)	3						c.(43-45)AGG>AGC		suppressor of variegation 4-20 homolog 1 isoform							303.0	259.0	274.0					11																	67957499		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67957499C>G	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.45G>C	11.37:g.67957499C>G	ENSP00000305899:p.Arg15Ser					SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_5'UTR|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Missense_Mutation_p.R15S|SUV420H1_uc001onp.2_Missense_Mutation_p.R15S|SUV420H1_uc010rqa.1_Missense_Mutation_p.R15S|SUV420H1_uc001onq.2_Missense_Mutation_p.R15S	p.R15S	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			2	301	-			15					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.45G>C	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280135	0.80692	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000434573	T;T;T;T;T;T	0.60797	0.92;0.92;0.92;0.92;0.16;0.92	5.77	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	L	0.43152	1.355	0.58432	D	0.999999	D;D;D;D	0.76494	0.967;0.981;0.989;0.999	P;D;D;D	0.80764	0.879;0.966;0.985;0.994	T	0.73975	-0.3813	10	0.87932	D	0	-34.9581	16.1548	0.81649	0.0:0.7485:0.2515:0.0	.	15;15;15;15	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	S	15	ENSP00000305899:R15S;ENSP00000385965:R15S;ENSP00000385640:R15S;ENSP00000385005:R15S;ENSP00000384724:R15S;ENSP00000402921:R15S	ENSP00000305899:R15S	R	-	3	2	SUV420H1	67714075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.551000	0.53698	1.541000	0.49316	0.585000	0.79938	AGG		0.473	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1		NM_017635		278	508	0	0	0	1	0	278	508		
CTTN	2017	broad.mit.edu	37	11	70265929	70265929	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:70265929C>G	ENST00000301843.8	+	9	852	c.646C>G	c.(646-648)Caa>Gaa	p.Q216E	CTTN_ENST00000346329.3_Missense_Mutation_p.Q216E|CTTN_ENST00000376561.3_Missense_Mutation_p.Q216E|CTTN_ENST00000538675.1_5'Flank	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	216					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CTTTGAGTATCAAGGCAAAAC	0.473																																						uc001opv.3		NaN																	0				ovary(1)	1						c.(646-648)CAA>GAA		cortactin isoform a							87.0	76.0	79.0					11																	70265929		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70265929C>G	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.646C>G	11.37:g.70265929C>G	ENSP00000301843:p.Gln216Glu					CTTN_uc001opu.2_Missense_Mutation_p.Q216E|CTTN_uc001opw.3_Missense_Mutation_p.Q216E|CTTN_uc010rqm.1_5'Flank|CTTN_uc001opx.2_5'Flank	p.Q216E	NM_005231	NP_005222	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	9	852	+			216			Cortactin 4.		Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.646C>G	CCDS41680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.90|12.90	2.076825|2.076825	0.36662|0.36662	.|.	.|.	ENSG00000085733|ENSG00000085733	ENST00000415461|ENST00000346329;ENST00000301843;ENST00000376561	.|T;T;T	.|0.30448	.|1.57;1.54;1.53	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.225554	.|0.46758	.|D	.|0.000276	T|T	0.49115|0.49115	0.1538|0.1538	L|L	0.49455|0.49455	1.56|1.56	0.80722|0.80722	D|D	1|1	.|D;P;B	.|0.69078	.|0.997;0.946;0.27	.|D;P;B	.|0.67900	.|0.954;0.868;0.115	T|T	0.30238|0.30238	-0.9985|-0.9985	5|10	.|0.30078	.|T	.|0.28	-19.6498|-19.6498	18.7402|18.7402	0.91770|0.91770	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|216;216;216	.|Q96H99;Q14247;Q8N707	.|.;SRC8_HUMAN;.	M|E	197|216	.|ENSP00000317189:Q216E;ENSP00000301843:Q216E;ENSP00000365745:Q216E	.|ENSP00000301843:Q216E	I|Q	+|+	3|1	3|0	CTTN|CTTN	69943577|69943577	0.994000|0.994000	0.37717|0.37717	0.354000|0.354000	0.25760|0.25760	0.355000|0.355000	0.29361|0.29361	3.229000|3.229000	0.51278|0.51278	2.492000|2.492000	0.84095|0.84095	0.655000|0.655000	0.94253|0.94253	ATC|CAA		0.473	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2		NM_138565		137	35	0	0	0	1	0	137	35		
RAB38	23682	broad.mit.edu	37	11	87908415	87908415	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:87908415G>C	ENST00000243662.6	-	1	220	c.138C>G	c.(136-138)ttC>ttG	p.F46L	MIR3166_ENST00000577344.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	46					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCTTGAGCGCGAAGTCCACGC	0.637																																						uc001pcj.1		NaN																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(136-138)TTC>TTG		RAB38							90.0	64.0	73.0					11																	87908415		2201	4299	6500	SO:0001583	missense	23682				protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	g.chr11:87908415G>C	AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"""RAB, member RAS oncogene"""	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.138C>G	11.37:g.87908415G>C	ENSP00000243662:p.Phe46Leu					hsa-mir-3166|MI0014196_5'Flank	p.F46L	NM_022337	NP_071732	P57729	RAB38_HUMAN			1	185	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	46			Effector region (By similarity).		Q53XK7	Missense_Mutation	SNP	ENST00000243662.6	37	c.138C>G	CCDS8281.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	24.3|24.3|24.3	4.515808|4.515808|4.515808	0.85495|0.85495|0.85495	.|.|.	.|.|.	ENSG00000123892|ENSG00000123892|ENSG00000123892	ENST00000243662|ENST00000531138|ENST00000526372	T|.|.	0.80994|.|.	-1.44|.|.	5.2|5.2|5.2	4.29|4.29|4.29	0.51040|0.51040|0.51040	Small GTP-binding protein domain (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.76955|0.76955|0.76955	0.4060|0.4060|0.4060	M|M|M	0.89785|0.89785|0.89785	3.06|3.06|3.06	0.80722|0.80722|0.80722	D|D|D	1|1|1	D|.|.	0.89917|.|.	1.0|.|.	D|.|.	0.81914|.|.	0.995|.|.	T|T|T	0.79125|0.79125|0.79125	-0.1932|-0.1932|-0.1932	9|5|5	.|.|.	.|.|.	.|.|.	-14.8983|-14.8983|-14.8983	7.99|7.99|7.99	0.30235|0.30235|0.30235	0.2518:0.0:0.7482:0.0|0.2518:0.0:0.7482:0.0|0.2518:0.0:0.7482:0.0	.|.|.	46|.|.	P57729|.|.	RAB38_HUMAN|.|.	L|G|W	46|63|63	ENSP00000243662:F46L|.|.	.|.|.	F|R|S	-|-|-	3|1|2	2|0|0	RAB38|RAB38|RAB38	87548063|87548063|87548063	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	2.567000|2.567000|2.567000	0.45956|0.45956|0.45956	1.418000|1.418000|1.418000	0.47098|0.47098|0.47098	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	TTC|CGC|TCG		0.637	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2				32	9	0	0	0	1	0	32	9		
ATM	472	broad.mit.edu	37	11	108106537	108106537	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:108106537G>C	ENST00000452508.2	+	6	661	c.472G>C	c.(472-474)Gaa>Caa	p.E158Q	ATM_ENST00000278616.4_Missense_Mutation_p.E158Q			Q13315	ATM_HUMAN	ATM serine/threonine kinase	158					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATACTGGTGTGAAATATCTCA	0.363			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NaN	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(472-474)GAA>CAA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							237.0	239.0	239.0					11																	108106537		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108106537G>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.472G>C	11.37:g.108106537G>C	ENSP00000388058:p.Glu158Gln	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.E158Q	p.E158Q	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	5	857	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	158					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.472G>C	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	32	5.158934	0.94686	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.59772	0.24;0.24;0.24	5.62	5.62	0.85841	Telomere-length maintenance and DNA damage repair (1);	0.053086	0.64402	D	0.000001	T	0.76666	0.4019	M	0.72118	2.19	0.53688	D	0.999975	D	0.76494	0.999	D	0.72625	0.978	T	0.77512	-0.2560	10	0.72032	D	0.01	.	20.0333	0.97547	0.0:0.0:1.0:0.0	.	158	Q13315	ATM_HUMAN	Q	158	ENSP00000435747:E158Q;ENSP00000278616:E158Q;ENSP00000388058:E158Q	ENSP00000278616:E158Q	E	+	1	0	ATM	107611747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.203000	0.95033	2.810000	0.96702	0.585000	0.79938	GAA		0.363	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051		64	21	0	0	0	1	0	64	21		
POU2AF1	5450	broad.mit.edu	37	11	111225125	111225125	+	Missense_Mutation	SNP	G	G	C	rs149278202		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:111225125G>C	ENST00000393067.3	-	5	1146	c.632C>G	c.(631-633)tCt>tGt	p.S211C		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	211					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		CTCTGGGATAGAGATGGGGAG	0.622			T	BCL6	NHL																																	uc001plg.3		NaN		Dom	yes		11	11q23.1	5450	T	"""POU domain, class 2, associating factor 1 (OBF1)"""			L	BCL6		NHL		0				kidney(1)	1						c.(631-633)TCT>TGT		POU class 2 associating factor 1		G	CYS/SER	0,4402		0,0,2201	56.0	58.0	57.0		632	4.9	1.0	11	dbSNP_134	57	1,8593	1.2+/-3.3	0,1,4296	no	missense	POU2AF1	NM_006235.2	112	0,1,6497	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging	211/257	111225125	1,12995	2201	4297	6498	SO:0001583	missense	5450				humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr11:111225125G>C		CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"""POU domain class 2, associating factor 1"""			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.632C>G	11.37:g.111225125G>C	ENSP00000376786:p.Ser211Cys						p.S211C	NM_006235	NP_006226	Q16633	OBF1_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)	5	887	-		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)	211					B2R8Z9|Q14983	Missense_Mutation	SNP	ENST00000393067.3	37	c.632C>G	CCDS31675.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306729	0.81247	0.0	1.16E-4	ENSG00000110777	ENST00000393067	T	0.35605	1.3	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.58075	0.2097	L	0.59436	1.845	0.46564	D	0.999101	D	0.89917	1.0	D	0.91635	0.999	T	0.60239	-0.7302	10	0.66056	D	0.02	-3.9004	17.9616	0.89087	0.0:0.0:1.0:0.0	.	211	Q16633	OBF1_HUMAN	C	211	ENSP00000376786:S211C	ENSP00000376786:S211C	S	-	2	0	POU2AF1	110730335	1.000000	0.71417	0.956000	0.39512	0.993000	0.82548	6.924000	0.75823	2.558000	0.86282	0.563000	0.77884	TCT		0.622	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1		NM_006235		35	12	0	0	0	1	0	35	12		
FDXACB1	91893	broad.mit.edu	37	11	111747287	111747287	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:111747287G>C	ENST00000260257.4	-	4	657	c.610C>G	c.(610-612)Caa>Gaa	p.Q204E	ALG9_ENST00000524880.1_Missense_Mutation_p.Q204E|C11orf1_ENST00000528125.1_5'Flank|ALG9_ENST00000527377.1_5'UTR|C11orf1_ENST00000260276.3_5'Flank|C11orf1_ENST00000530214.1_5'Flank|FDXACB1_ENST00000542429.1_Missense_Mutation_p.Q55E	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	204					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						ATTCTGGGTTGAGAACCTTCA	0.413																																						uc001pmc.3		NaN																	0					0						c.(610-612)CAA>GAA		ferredoxin-fold anticodon binding domain							138.0	136.0	137.0					11																	111747287		1863	4093	5956	SO:0001583	missense	91893				phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr11:111747287G>C		CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.610C>G	11.37:g.111747287G>C	ENSP00000260257:p.Gln204Glu					ALG9_uc010rwo.1_5'UTR|FDXACB1_uc009yyi.2_Missense_Mutation_p.Q55E|C11orf1_uc001pmd.2_5'Flank	p.Q204E	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN			4	907	-			204					A0PJW7|B4DUU2	Missense_Mutation	SNP	ENST00000260257.4	37	c.610C>G	CCDS44729.1	.	.	.	.	.	.	.	.	.	.	G	6.327	0.428411	0.11987	.	.	ENSG00000086848;ENSG00000255561;ENSG00000255561;ENSG00000255561	ENST00000428306;ENST00000260257;ENST00000542429;ENST00000528274	T;T;T	0.71579	0.43;-0.58;0.98	5.7	4.77	0.60923	.	0.523840	0.21276	N	0.077237	T	0.62756	0.2454	L	0.47716	1.5	0.09310	N	1	B	0.26318	0.146	B	0.24974	0.057	T	0.59053	-0.7526	10	0.66056	D	0.02	.	9.4884	0.38944	0.0:0.1207:0.4875:0.3918	.	204	Q9BRP7	FDXA1_HUMAN	E	204;204;55;115	ENSP00000260257:Q204E;ENSP00000441304:Q55E;ENSP00000435572:Q115E	ENSP00000387627:Q204E	Q	-	1	0	FDXACB1;ALG9	111252497	0.112000	0.22096	0.586000	0.28679	0.765000	0.43378	1.618000	0.36954	1.367000	0.46095	0.655000	0.94253	CAA		0.413	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1		NM_138378		52	19	0	0	0	1	0	52	19		
TTC36	143941	broad.mit.edu	37	11	118399332	118399332	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:118399332C>G	ENST00000302783.4	+	2	156	c.133C>G	c.(133-135)Caa>Gaa	p.Q45E	TMEM25_ENST00000544878.1_5'Flank|TMEM25_ENST00000442938.2_5'Flank|RP11-770J1.3_ENST00000532597.1_RNA|TMEM25_ENST00000313236.5_5'Flank|RP11-770J1.3_ENST00000525992.2_RNA|TMEM25_ENST00000524725.1_5'Flank|TMEM25_ENST00000354284.4_5'Flank|RP11-770J1.3_ENST00000554407.1_RNA|TMEM25_ENST00000533102.1_5'Flank|RP11-770J1.3_ENST00000556583.1_RNA|TMEM25_ENST00000354064.7_5'Flank|TMEM25_ENST00000359862.4_5'Flank|TTC36_ENST00000539546.1_5'UTR|RP11-770J1.3_ENST00000528578.1_RNA|TMEM25_ENST00000411589.2_5'Flank	NM_001080441.1	NP_001073910.1	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	45										lung(2)	2						AGTTTTCCCTCAAGCACAGCT	0.572																																						uc001ptg.1		NaN																	0					0						c.(133-135)CAA>GAA		tetratricopeptide repeat domain 36							67.0	67.0	67.0					11																	118399332		2200	4295	6495	SO:0001583	missense	143941						binding	g.chr11:118399332C>G	EU489483	CCDS31687.1	11q23.3	2013-01-10			ENSG00000172425	ENSG00000172425		"""Tetratricopeptide (TTC) repeat domain containing"""	33708	protein-coding gene	gene with protein product	"""HSP70 binding protein 21"""						Standard	NM_001080441		Approved	HBP21	uc001ptg.1	A6NLP5	OTTHUMG00000166338	ENST00000302783.4:c.133C>G	11.37:g.118399332C>G	ENSP00000307640:p.Gln45Glu					TTC36_uc010ryb.1_RNA|TTC36_uc010ryc.1_Intron|TMEM25_uc010ryd.1_5'Flank|TMEM25_uc001ptk.3_5'Flank|TMEM25_uc010rye.1_5'Flank|TMEM25_uc001pth.2_5'Flank|TMEM25_uc009zad.2_5'Flank|TMEM25_uc001pti.2_5'Flank|TMEM25_uc010ryf.1_5'Flank|TMEM25_uc001ptl.2_5'Flank|TMEM25_uc001ptm.2_5'Flank	p.Q45E	NM_001080441	NP_001073910	A6NLP5	TTC36_HUMAN			2	133	+			45					B7ZW72|B9EJD8	Missense_Mutation	SNP	ENST00000302783.4	37	c.133C>G	CCDS31687.1	.	.	.	.	.	.	.	.	.	.	C	2.925	-0.222288	0.06061	.	.	ENSG00000172425	ENST00000302783	T	0.27557	1.66	5.27	2.0	0.26442	.	0.426837	0.26642	N	0.023245	T	0.14917	0.0360	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17048	-1.0382	10	0.02654	T	1	1.2906	8.4816	0.33045	0.0:0.5947:0.2502:0.155	.	45	A6NLP5	TTC36_HUMAN	E	45	ENSP00000307640:Q45E	ENSP00000307640:Q45E	Q	+	1	0	TTC36	117904542	0.000000	0.05858	0.995000	0.50966	0.975000	0.68041	-0.648000	0.05391	0.568000	0.29311	0.561000	0.74099	CAA		0.572	TTC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389241.2		NM_001080441		56	10	0	0	0	1	0	56	10		
GLB1L3	112937	broad.mit.edu	37	11	134183857	134183857	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:134183857C>T	ENST00000431683.2	+	17	1602	c.1602C>T	c.(1600-1602)atC>atT	p.I534I		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	534					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CTGTCAGCATCAATAACTCTT	0.483																																						uc009zdf.2		NaN																	0				pancreas(1)	1						c.(1600-1602)ATC>ATT		galactosidase, beta 1 like 3							83.0	79.0	80.0					11																	134183857		1914	4134	6048	SO:0001819	synonymous_variant	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134183857C>T		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1602C>T	11.37:g.134183857C>T						GLB1L3_uc001qho.3_RNA	p.I534I	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	17	1962	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	534					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Silent	SNP	ENST00000431683.2	37	c.1602C>T	CCDS44780.1																																																																																				0.483	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1		NM_138416		27	6	0	0	0	1	0	27	6		
AKAP3	10566	broad.mit.edu	37	12	4724985	4724985	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:4724985C>T	ENST00000545990.2	-	6	3006	c.2482G>A	c.(2482-2484)Gag>Aag	p.E828K	AKAP3_ENST00000228850.1_Missense_Mutation_p.E828K|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	828					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CGCTCCTTCTCATAGCGCAGC	0.562																																						uc001qnb.3		NaN																	0				skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						c.(2482-2484)GAG>AAG		A-kinase anchor protein 3							133.0	108.0	116.0					12																	4724985		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4724985C>T	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.2482G>A	12.37:g.4724985C>T	ENSP00000440994:p.Glu828Lys						p.E828K	NM_006422	NP_006413	O75969	AKAP3_HUMAN			5	2711	-			828					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.2482G>A	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600797	0.66332	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.08370	3.1;3.1	4.86	4.86	0.63082	A-kinase anchor 110kDa, C-terminal (1);	0.109406	0.42053	D	0.000763	T	0.26412	0.0645	M	0.68317	2.08	0.38606	D	0.95078	D	0.69078	0.997	D	0.80764	0.994	T	0.01269	-1.1400	10	0.46703	T	0.11	-26.8802	15.0224	0.71640	0.0:1.0:0.0:0.0	.	828	O75969	AKAP3_HUMAN	K	828	ENSP00000228850:E828K;ENSP00000440994:E828K	ENSP00000228850:E828K	E	-	1	0	AKAP3	4595246	0.992000	0.36948	0.999000	0.59377	0.430000	0.31655	3.862000	0.56009	2.513000	0.84729	0.655000	0.94253	GAG		0.562	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2		NM_006422		101	142	0	0	0	1	0	101	142		
KCNA5	3741	broad.mit.edu	37	12	5155043	5155043	+	Missense_Mutation	SNP	G	G	A	rs139805781	byFrequency	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:5155043G>A	ENST00000252321.3	+	1	1959	c.1730G>A	c.(1729-1731)cGa>cAa	p.R577Q		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	577					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)	GACAGTGCCCGAAGGGGCAGC	0.642																																						uc001qni.2		NaN																	0				ovary(2)|breast(2)	4						c.(1729-1731)CGA>CAA		potassium voltage-gated channel, shaker-related		G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	32.0	34.0	33.0		1730	3.0	0.2	12	dbSNP_134	33	0,8600		0,0,4300	yes	missense	KCNA5	NM_002234.2	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	577/614	5155043	2,13004	2203	4300	6503	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5155043G>A	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.1730G>A	12.37:g.5155043G>A	ENSP00000252321:p.Arg577Gln						p.R577Q	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	1959	+			577					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.1730G>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	4.156	0.027390	0.08054	4.54E-4	0.0	ENSG00000130037	ENST00000252321	D	0.97665	-4.48	4.97	3.0	0.34707	.	0.764166	0.10711	U	0.642882	D	0.93956	0.8065	L	0.51422	1.61	0.09310	N	1	B	0.16802	0.019	B	0.08055	0.003	D	0.87551	0.2465	10	0.46703	T	0.11	.	4.7713	0.13157	0.3764:0.0:0.6236:0.0	.	577	P22460	KCNA5_HUMAN	Q	577	ENSP00000252321:R577Q	ENSP00000252321:R577Q	R	+	2	0	KCNA5	5025304	0.199000	0.23386	0.199000	0.23439	0.100000	0.18952	1.839000	0.39220	1.337000	0.45525	-0.254000	0.11334	CGA		0.642	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2		NM_002234		25	33	0	0	0	1	0	25	33		
PHC1	1911	broad.mit.edu	37	12	9074235	9074235	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:9074235C>G	ENST00000543824.1	+	6	677	c.345C>G	c.(343-345)agC>agG	p.S115R	PHC1_ENST00000433083.2_Missense_Mutation_p.S78R|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000544916.1_Missense_Mutation_p.S115R|PHC1_ENST00000536844.1_5'UTR			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	115					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						AGCTCATCAGCCGATCCCAGA	0.557																																						uc001qvd.2		NaN																	0				ovary(1)|breast(1)	2						c.(343-345)AGC>AGG		polyhomeotic 1-like							75.0	64.0	68.0					12																	9074235		2203	4300	6503	SO:0001583	missense	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9074235C>G	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.345C>G	12.37:g.9074235C>G	ENSP00000440674:p.Ser115Arg					PHC1_uc001qvc.1_Missense_Mutation_p.S78R|PHC1_uc010sgn.1_Missense_Mutation_p.S115R|PHC1_uc001qve.2_Missense_Mutation_p.S115R	p.S115R	NM_004426	NP_004417	P78364	PHC1_HUMAN			5	501	+			115					D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	c.345C>G	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832514	0.71258	.	.	ENSG00000111752	ENST00000538657;ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000544539;ENST00000541181	T;T;T;T	0.34072	1.58;1.58;1.38;1.58	5.59	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.48660	0.1512	L	0.42744	1.35	0.80722	D	1	D;D;D	0.71674	0.994;0.998;0.998	D;D;D	0.74348	0.983;0.981;0.981	T	0.49293	-0.8955	10	0.72032	D	0.01	-8.9085	10.802	0.46493	0.0:0.7903:0.0:0.2097	.	115;115;115	B4DF21;P78364;B2RXH1	.;PHC1_HUMAN;.	R	115;115;115;78;115;115;132	ENSP00000440674:S115R;ENSP00000251757:S115R;ENSP00000399194:S78R;ENSP00000437659:S115R	ENSP00000251757:S115R	S	+	3	2	PHC1	8965502	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.281000	0.33214	1.364000	0.46038	0.655000	0.94253	AGC		0.557	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1		NM_004426		28	29	0	0	0	1	0	28	29		
PZP	5858	broad.mit.edu	37	12	9303317	9303317	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:9303317G>A	ENST00000261336.2	-	34	4335	c.4307C>T	c.(4306-4308)tCc>tTc	p.S1436F	PZP_ENST00000381997.2_Missense_Mutation_p.S1222F	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1436					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AACCATGAAGGAAAAACTTAG	0.383																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(4306-4308)TCC>TTC		pregnancy-zone protein precursor							115.0	110.0	111.0					12																	9303317		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9303317G>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.4307C>T	12.37:g.9303317G>A	ENSP00000261336:p.Ser1436Phe					PZP_uc009zgl.2_Missense_Mutation_p.S1222F	p.S1436F	NM_002864	NP_002855					34	4336	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.4307C>T	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	7.229	0.598919	0.13939	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.24908	1.83;1.83	4.18	3.28	0.37604	Alpha-macroglobulin, receptor-binding (3);	0.433778	0.18210	U	0.148222	T	0.25082	0.0609	L	0.58101	1.795	0.30597	N	0.760969	P;B	0.40875	0.731;0.289	B;B	0.37731	0.257;0.232	T	0.16217	-1.0410	10	0.42905	T	0.14	.	11.2123	0.48806	0.095:0.0:0.905:0.0	.	1222;1436	P20742-2;P20742	.;PZP_HUMAN	F	1436;1222	ENSP00000261336:S1436F;ENSP00000371427:S1222F	ENSP00000261336:S1436F	S	-	2	0	PZP	9194584	1.000000	0.71417	0.457000	0.27056	0.053000	0.15095	3.633000	0.54295	1.041000	0.40125	0.563000	0.77884	TCC		0.383	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1		NM_002864		34	41	0	0	0	1	0	34	41		
PRR4	11272	broad.mit.edu	37	12	10999683	10999683	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:10999683G>A	ENST00000228811.4	-	3	421	c.384C>T	c.(382-384)ccC>ccT	p.P128P	PRR4_ENST00000544994.1_Missense_Mutation_p.P51L|PRR4_ENST00000540107.1_Missense_Mutation_p.P71S|PRR4_ENST00000536668.1_5'UTR	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	128					retina homeostasis (GO:0001895)|visual perception (GO:0007601)	extracellular space (GO:0005615)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						GTTGCTCCTGGGGATGTCTTG	0.493																																						uc001qyz.3		NaN																	0					0						c.(382-384)CCC>CCT		proline rich 4 (lacrimal) isoform 2							147.0	142.0	144.0					12																	10999683		1981	4166	6147	SO:0001819	synonymous_variant	11272				visual perception	extracellular space		g.chr12:10999683G>A		CCDS41756.1, CCDS55804.1	12p13	2008-02-05		2004-05-28		ENSG00000111215			18020	protein-coding gene	gene with protein product		605359		PROL4		7544782	Standard	NM_007244		Approved	LPRP	uc001qyz.4	Q16378		ENST00000228811.4:c.384C>T	12.37:g.10999683G>A						PRR4_uc009zhp.2_Silent_p.P141P|PRH1_uc001qzb.3_RNA|PRR4_uc001qza.3_RNA	p.P128P	NM_007244	NP_009175	Q16378	PROL4_HUMAN			3	423	-			128					A8KA69|F5H0D7|Q8NFB3	Silent	SNP	ENST00000228811.4	37	c.384C>T	CCDS41756.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.864|1.864	-0.461890|-0.461890	0.04508|0.04508	.|.	.|.	ENSG00000111215|ENSG00000111215	ENST00000544994;ENST00000431566|ENST00000540107	T|.	0.09723|.	2.95|.	0.947|0.947	0.947|0.947	0.19555|0.19555	.|.	0.692694|0.692694	0.09492|0.09492	N|U	0.794732|0.794732	T|T	0.38401|0.38401	0.1039|0.1039	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41448|0.41448	-0.9508|-0.9508	7|6	0.87932|0.87932	D|D	0|0	.|.	5.2178|5.2178	0.15352|0.15352	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|S	51;112|71	ENSP00000438046:P51L|.	ENSP00000405056:P112L|ENSP00000443939:P71S	P|P	-|-	2|1	0|0	PRR4|PRR4	10890950|10890950	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.004000|0.004000	0.04260|0.04260	0.124000|0.124000	0.15728|0.15728	0.802000|0.802000	0.34089|0.34089	0.390000|0.390000	0.25778|0.25778	CCC|CCA		0.493	PRR4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400049.1		NM_007244		70	82	0	0	0	1	0	70	82		
TAS2R50	259296	broad.mit.edu	37	12	11138715	11138715	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:11138715C>T	ENST00000506868.1	-	1	796	c.745G>A	c.(745-747)Gtt>Att	p.V249I	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	249					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)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						GGACTCCAAACCGAAACGATT	0.438																																						uc001qzl.2		NaN																	0				ovary(2)	2						c.(745-747)GTT>ATT		taste receptor, type 2, member 50							89.0	89.0	89.0					12																	11138715		2203	4300	6503	SO:0001583	missense	259296				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11138715C>T	AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.745G>A	12.37:g.11138715C>T	ENSP00000424040:p.Val249Ile					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.V249I	NM_176890	NP_795371	P59544	T2R50_HUMAN			1	797	-			249			Helical; Name=6; (Potential).		P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	ENST00000506868.1	37	c.745G>A	CCDS8638.1	.	.	.	.	.	.	.	.	.	.	C	1.593	-0.528565	0.04112	.	.	ENSG00000212126	ENST00000506868	T	0.00705	5.81	1.63	-0.322	0.12713	.	1.975250	0.03567	N	0.228061	T	0.00695	0.0023	N	0.16266	0.395	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.47535	-0.9110	10	0.24483	T	0.36	.	5.7849	0.18329	0.0:0.6691:0.0:0.3309	.	249	P59544	T2R50_HUMAN	I	249	ENSP00000424040:V249I	ENSP00000424040:V249I	V	-	1	0	TAS2R50	11029982	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-3.175000	0.00571	-0.111000	0.12001	-0.671000	0.03813	GTT		0.438	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2		NM_176890		40	58	0	0	0	1	0	40	58		
CDKN1B	1027	broad.mit.edu	37	12	12870793	12870793	+	Missense_Mutation	SNP	C	C	G	rs368157535		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:12870793C>G	ENST00000228872.4	+	1	736	c.20C>G	c.(19-21)tCt>tGt	p.S7C	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Missense_Mutation_p.S7C	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	7					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|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)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|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 cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GTGCGAGTGTCTAACGGGAGC	0.612																																						uc001rat.2		NaN																	0				ovary(1)|lung(1)	2						c.(19-21)TCT>TGT		cyclin-dependent kinase inhibitor 1B		C	CYS/SER	0,4406		0,0,2203	36.0	45.0	42.0		20	4.4	1.0	12		42	1,8593		0,1,4296	no	missense	CDKN1B	NM_004064.3	112	0,1,6499	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	7/199	12870793	1,12999	2203	4297	6500	SO:0001583	missense	1027	Multiple_Endocrine_Neoplasia_type_1|Multiple_Endocrine_Neoplasia_type_4			autophagic cell death|cell cycle arrest|cellular response to lithium ion|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|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12870793C>G	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.20C>G	12.37:g.12870793C>G	ENSP00000228872:p.Ser7Cys						p.S7C	NM_004064	NP_004055	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	1	492	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	7					Q16307|Q5U0H2|Q9BUS6	Missense_Mutation	SNP	ENST00000228872.4	37	c.20C>G	CCDS8653.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594922	0.86953	0.0	1.16E-4	ENSG00000111276	ENST00000228872;ENST00000396340	D;D	0.87887	-2.31;-2.23	4.42	4.42	0.53409	.	0.155329	0.45126	D	0.000389	D	0.93210	0.7837	M	0.80183	2.485	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.94152	0.7406	10	0.87932	D	0	-3.4373	14.9785	0.71293	0.0:1.0:0.0:0.0	.	7	P46527	CDN1B_HUMAN	C	7	ENSP00000228872:S7C;ENSP00000379629:S7C	ENSP00000228872:S7C	S	+	2	0	CDKN1B	12762060	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.098000	0.76974	2.281000	0.76405	0.655000	0.94253	TCT		0.612	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2		NM_004064		61	85	0	0	0	1	0	61	85		
CDKN1B	1027	broad.mit.edu	37	12	12871765	12871765	+	Missense_Mutation	SNP	C	C	G	rs373917399		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:12871765C>G	ENST00000228872.4	+	2	1198	c.482C>G	c.(481-483)tCt>tGt	p.S161C	CDKN1B_ENST00000477087.1_3'UTR|CDKN1B_ENST00000396340.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	161					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|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)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|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 cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		TTAGATTCTTCTACTCAAAAC	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		15150	0.0		0.0	False		,,,				2504	0.001					uc001rat.2		NaN																	0				ovary(1)|lung(1)	2						c.(481-483)TCT>TGT		cyclin-dependent kinase inhibitor 1B		C	CYS/SER	0,4406		0,0,2203	74.0	88.0	83.0		482	5.1	0.9	12		83	2,8598	2.2+/-6.3	0,2,4298	no	missense	CDKN1B	NM_004064.3	112	0,2,6501	GG,GC,CC		0.0233,0.0,0.0154	probably-damaging	161/199	12871765	2,13004	2203	4300	6503	SO:0001583	missense	1027	Multiple_Endocrine_Neoplasia_type_1|Multiple_Endocrine_Neoplasia_type_4			autophagic cell death|cell cycle arrest|cellular response to lithium ion|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|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12871765C>G	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.482C>G	12.37:g.12871765C>G	ENSP00000228872:p.Ser161Cys						p.S161C	NM_004064	NP_004055	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	2	954	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	161	S->A: No change in PKB/AKT1-mediated phosphorylation.		Nuclear localization signal (Potential).		Q16307|Q5U0H2|Q9BUS6	Missense_Mutation	SNP	ENST00000228872.4	37	c.482C>G	CCDS8653.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467984	0.43839	0.0	2.33E-4	ENSG00000111276	ENST00000228872;ENST00000535674;ENST00000442489	T;T	0.61392	0.11;0.11	5.13	5.13	0.70059	.	.	.	.	.	T	0.55162	0.1903	M	0.68593	2.085	0.80722	D	1	B	0.26775	0.159	B	0.22386	0.039	T	0.55095	-0.8194	9	0.40728	T	0.16	.	13.3931	0.60834	0.0:0.8428:0.1571:0.0	.	161	P46527	CDN1B_HUMAN	C	161;110;67	ENSP00000228872:S161C;ENSP00000407597:S67C	ENSP00000228872:S161C	S	+	2	0	CDKN1B	12763032	0.994000	0.37717	0.857000	0.33713	0.752000	0.42762	2.156000	0.42310	2.384000	0.81235	0.655000	0.94253	TCT		0.438	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2		NM_004064		77	95	0	0	0	1	0	77	95		
SOX5	6660	broad.mit.edu	37	12	23728769	23728769	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:23728769C>T	ENST00000451604.2	-	10	1269	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	SOX5_ENST00000545921.1_Missense_Mutation_p.E380K|SOX5_ENST00000309359.1_Missense_Mutation_p.E377K|SOX5_ENST00000546136.1_Missense_Mutation_p.E377K|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000396007.2_Missense_Mutation_p.E4K|SOX5_ENST00000537393.1_Missense_Mutation_p.E355K			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	390					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TGTGCCACTTCATCCTGCAAT	0.443																																						uc001rfw.2		NaN																	0				ovary(5)|lung(1)	6						c.(1168-1170)GAA>AAA		SRY (sex determining region Y)-box 5 isoform a							119.0	118.0	119.0					12																	23728769		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23728769C>T	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1168G>A	12.37:g.23728769C>T	ENSP00000398273:p.Glu390Lys					SOX5_uc001rfx.2_Missense_Mutation_p.E377K|SOX5_uc001rfy.2_Intron|SOX5_uc001rfv.2_Missense_Mutation_p.E4K|SOX5_uc010siv.1_Missense_Mutation_p.E377K|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.E342K	p.E390K	NM_006940	NP_008871	P35711	SOX5_HUMAN			10	1270	-			390					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.1168G>A	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987809	0.74589	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000396007;ENST00000545921	D;D;D;D;D;D	0.98221	-4.79;-4.79;-4.79;-4.8;-4.7;-4.79	5.18	5.18	0.71444	.	0.268648	0.37669	N	0.001998	D	0.97232	0.9095	M	0.62088	1.915	0.80722	D	1	B;B;B	0.23185	0.008;0.032;0.081	B;B;B	0.23419	0.038;0.044;0.046	D	0.95472	0.8552	10	0.59425	D	0.04	.	19.0635	0.93101	0.0:1.0:0.0:0.0	.	355;390;4	F5H0I3;P35711;P35711-3	.;SOX5_HUMAN;.	K	377;377;390;342;355;4;380	ENSP00000437487:E377K;ENSP00000308927:E377K;ENSP00000398273:E390K;ENSP00000439832:E355K;ENSP00000379328:E4K;ENSP00000443520:E380K	ENSP00000308927:E377K	E	-	1	0	SOX5	23620036	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.962000	0.76048	2.593000	0.87608	0.491000	0.48974	GAA		0.443	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2		NM_006940		40	52	0	0	0	1	0	40	52		
SOX5	6660	broad.mit.edu	37	12	23998926	23998926	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:23998926C>G	ENST00000451604.2	-	3	573	c.472G>C	c.(472-474)Gag>Cag	p.E158Q	SOX5_ENST00000441133.2_Missense_Mutation_p.E123Q|SOX5_ENST00000545921.1_Missense_Mutation_p.E148Q|SOX5_ENST00000309359.1_Missense_Mutation_p.E145Q|SOX5_ENST00000546136.1_Missense_Mutation_p.E145Q|SOX5_ENST00000381381.2_Missense_Mutation_p.E145Q|SOX5_ENST00000541536.1_Missense_Mutation_p.E145Q|SOX5_ENST00000541847.1_Missense_Mutation_p.E148Q|SOX5_ENST00000537393.1_Missense_Mutation_p.E123Q			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	158					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CCTTCCGGCTCGTTTTTGATG	0.408																																						uc001rfw.2		NaN																	0				ovary(5)|lung(1)	6						c.(472-474)GAG>CAG		SRY (sex determining region Y)-box 5 isoform a							104.0	94.0	98.0					12																	23998926		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23998926C>G	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.472G>C	12.37:g.23998926C>G	ENSP00000398273:p.Glu158Gln					SOX5_uc001rfx.2_Missense_Mutation_p.E145Q|SOX5_uc001rfy.2_Missense_Mutation_p.E145Q|SOX5_uc010siv.1_Missense_Mutation_p.E145Q|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.E110Q|SOX5_uc001rga.2_Missense_Mutation_p.E123Q	p.E158Q	NM_006940	NP_008871	P35711	SOX5_HUMAN			3	574	-			158					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.472G>C	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981706	0.93044	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133	D;D;D;D;D;D;D	0.97710	-4.49;-4.49;-4.5;-4.49;-4.45;-4.5;-4.49	5.79	5.79	0.91817	.	0.104389	0.64402	D	0.000004	D	0.98717	0.9569	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.996;1.0	D;D;D;D	0.91635	0.998;0.999;0.983;0.999	D	0.99320	1.0906	10	0.59425	D	0.04	.	20.0349	0.97554	0.0:1.0:0.0:0.0	.	123;123;145;158	G3V0H1;F5H0I3;P35711-4;P35711	.;.;.;SOX5_HUMAN	Q	145;145;145;158;110;123;145;148;148;123	ENSP00000437487:E145Q;ENSP00000308927:E145Q;ENSP00000370788:E145Q;ENSP00000398273:E158Q;ENSP00000439832:E123Q;ENSP00000441973:E145Q;ENSP00000443520:E148Q	ENSP00000308927:E145Q	E	-	1	0	SOX5	23890193	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.474000	0.81024	2.744000	0.94065	0.650000	0.86243	GAG		0.408	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2		NM_006940		32	62	0	0	0	1	0	32	62		
PRPF40B	25766	broad.mit.edu	37	12	50029643	50029643	+	Silent	SNP	C	C	T	rs371066831		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:50029643C>T	ENST00000380281.1	+	14	1291	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	PRPF40B_ENST00000548825.2_Silent_p.L431L|FMNL3_ENST00000550668.1_5'Flank|PRPF40B_ENST00000261897.1_Silent_p.L403L			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	409					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCAAGCAGCTCCGGCGCCGCA	0.602																																						uc001rur.1		NaN																	0				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						c.(1225-1227)CTC>CTT		Huntingtin interacting protein C isoform 1		C	,	0,4406		0,0,2203	68.0	59.0	62.0		1227,1209	-0.4	1.0	12		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PRPF40B	NM_001031698.1,NM_012272.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	409/872,403/859	50029643	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50029643C>T	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1227C>T	12.37:g.50029643C>T						PRPF40B_uc001rup.1_Silent_p.L431L|PRPF40B_uc001ruq.1_Silent_p.L403L|PRPF40B_uc001rus.1_Silent_p.L352L	p.L409L	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN			14	1291	+			409					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Silent	SNP	ENST00000380281.1	37	c.1227C>T																																																																																					0.602	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1		NM_012272		43	44	0	0	0	1	0	43	44		
SCN8A	6334	broad.mit.edu	37	12	52100287	52100287	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:52100287C>T	ENST00000354534.6	+	11	1601	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	SCN8A_ENST00000550891.1_Missense_Mutation_p.R475W|SCN8A_ENST00000545061.1_Missense_Mutation_p.R475W	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	475					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GGGCTCCCCTCGGAGCTCTTC	0.502																																						uc001ryw.2		NaN																	0				ovary(7)	7						c.(1423-1425)CGG>TGG		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						20.0	19.0	19.0					12																	52100287		1820	4071	5891	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52100287C>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.1423C>T	12.37:g.52100287C>T	ENSP00000346534:p.Arg475Trp					SCN8A_uc010snl.1_Missense_Mutation_p.R340W|SCN8A_uc001ryx.1_Missense_Mutation_p.R340W|SCN8A_uc001ryz.1_Missense_Mutation_p.R340W|SCN8A_uc001ryy.2_Missense_Mutation_p.R340W	p.R475W	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	11	1601	+			475					B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.1423C>T	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.071155	0.55646	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	D;D;D;D;D	0.96651	-3.95;-3.96;-3.92;-3.8;-4.08	4.41	2.47	0.30058	.	0.153579	0.44483	D	0.000443	D	0.92440	0.7600	L	0.29908	0.895	0.42109	D	0.991371	P;D;P;D	0.60160	0.894;0.987;0.894;0.978	B;B;B;B	0.42882	0.231;0.401;0.231;0.226	D	0.90884	0.4756	10	0.59425	D	0.04	.	12.8896	0.58064	0.3057:0.6943:0.0:0.0	.	475;475;475;475	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	W	475;475;475;475;388;273	ENSP00000448415:R475W;ENSP00000346534:R475W;ENSP00000440360:R475W;ENSP00000347255:R475W;ENSP00000447567:R273W	ENSP00000346534:R475W	R	+	1	2	SCN8A	50386554	0.028000	0.19301	0.956000	0.39512	0.955000	0.61496	0.663000	0.25053	0.525000	0.28522	0.462000	0.41574	CGG		0.502	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3		NM_014191		12	10	0	0	0	1	0	12	10		
EIF4B	1975	broad.mit.edu	37	12	53412671	53412671	+	Silent	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:53412671C>A	ENST00000262056.9	+	3	567	c.241C>A	c.(241-243)Cgg>Agg	p.R81R	EIF4B_ENST00000416762.3_Silent_p.R81R|RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000420463.3_Silent_p.R81R|EIF4B_ENST00000551527.1_3'UTR	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	81					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|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)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						ACGGGCTGCTCGGGAACCCAA	0.512																																						uc001sbh.3		NaN																	0				breast(1)|kidney(1)	2						c.(241-243)CGG>AGG		eukaryotic translation initiation factor 4B							75.0	69.0	71.0					12																	53412671		1867	4091	5958	SO:0001819	synonymous_variant	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53412671C>A	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.241C>A	12.37:g.53412671C>A						EIF4B_uc009zmp.1_RNA|EIF4B_uc010snu.1_Silent_p.R81R|EIF4B_uc010snv.1_Silent_p.R81R|EIF4B_uc001sbi.2_5'UTR	p.R81R	NM_001417	NP_001408	P23588	IF4B_HUMAN			3	447	+			81					Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Silent	SNP	ENST00000262056.9	37	c.241C>A	CCDS41788.1																																																																																				0.512	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2		NM_001417		52	113	1	0	6.09941e-20	1	6.34794e-20	52	113		
SMARCC2	6601	broad.mit.edu	37	12	56575311	56575311	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:56575311G>C	ENST00000267064.4	-	10	997	c.911C>G	c.(910-912)tCt>tGt	p.S304C	SMARCC2_ENST00000347471.4_Missense_Mutation_p.S304C|SMARCC2_ENST00000394023.3_Missense_Mutation_p.S304C|SMARCC2_ENST00000550859.1_5'Flank|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.S304C	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	304					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGTGAAGGAGAGGGGGAGCG	0.507																																						uc001skb.2		NaN																	0				lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.(910-912)TCT>TGT		SWI/SNF-related matrix-associated							99.0	91.0	94.0					12																	56575311		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56575311G>C	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.911C>G	12.37:g.56575311G>C	ENSP00000267064:p.Ser304Cys					SMARCC2_uc001skd.2_Missense_Mutation_p.S304C|SMARCC2_uc001ska.2_Missense_Mutation_p.S304C|SMARCC2_uc001skc.2_Missense_Mutation_p.S304C|SMARCC2_uc010sqf.1_Missense_Mutation_p.S193C	p.S304C	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		10	1017	-			304					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.911C>G	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762207	0.69763	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.56776	0.52;0.44;0.45	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	M	0.82193	2.58	0.58432	D	0.999998	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.79784	0.984;0.993;0.984;0.984;0.993	T	0.78360	-0.2234	10	0.62326	D	0.03	-12.3453	16.4956	0.84242	0.0:0.0:1.0:0.0	.	193;304;309;304;304	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	C	304	ENSP00000449396:S304C;ENSP00000302919:S304C;ENSP00000267064:S304C	ENSP00000267064:S304C	S	-	2	0	SMARCC2	54861578	1.000000	0.71417	0.993000	0.49108	0.959000	0.62525	9.228000	0.95250	2.620000	0.88729	0.561000	0.74099	TCT		0.507	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1				29	45	0	0	0	1	0	29	45		
BAZ2A	11176	broad.mit.edu	37	12	56996518	56996518	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:56996518C>A	ENST00000551812.1	-	19	3602	c.3409G>T	c.(3409-3411)Gaa>Taa	p.E1137*	BAZ2A_ENST00000549884.1_Nonsense_Mutation_p.E1135*|BAZ2A_ENST00000179765.5_Nonsense_Mutation_p.E1105*|BAZ2A_ENST00000379441.3_Nonsense_Mutation_p.E1107*|BAZ2A_ENST00000553222.1_5'Flank	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1137					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCTGTTCCTTCTACAAAGATA	0.493																																						uc001slq.1		NaN																	0					0						c.(3409-3411)GAA>TAA		bromodomain adjacent to zinc finger domain, 2A							63.0	61.0	62.0					12																	56996518		1946	4145	6091	SO:0001587	stop_gained	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:56996518C>A	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.3409G>T	12.37:g.56996518C>A	ENSP00000446880:p.Glu1137*					BAZ2A_uc001slp.1_Nonsense_Mutation_p.E1135*|BAZ2A_uc001slo.1_5'Flank|BAZ2A_uc009zov.1_Nonsense_Mutation_p.E107*|BAZ2A_uc009zow.1_Nonsense_Mutation_p.E1105*	p.E1137*	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN			19	3603	-			1137					B3KN66|O00536|O15030|Q68DI8|Q96H26	Nonsense_Mutation	SNP	ENST00000551812.1	37	c.3409G>T	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	C	44	11.028144	0.99505	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.1369	0.89622	0.0:1.0:0.0:0.0	.	.	.	.	X	1107;1105;1137;73;1135	.	ENSP00000179765:E1105X	E	-	1	0	BAZ2A	55282785	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.630000	0.83225	2.663000	0.90544	0.655000	0.94253	GAA		0.493	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1		NM_013449		20	33	1	0	3.6726e-16	1	3.79647e-16	20	33		
SRGAP1	57522	broad.mit.edu	37	12	64472798	64472798	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:64472798G>C	ENST00000355086.3	+	9	1749	c.1225G>C	c.(1225-1227)Gaa>Caa	p.E409Q	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.E409Q|SRGAP1_ENST00000543397.1_Missense_Mutation_p.E369Q	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	409	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TCGTTCCACAGAATCAGTGAA	0.468																																						uc010ssp.1		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(1225-1227)GAA>CAA		SLIT-ROBO Rho GTPase activating protein 1							112.0	98.0	103.0					12																	64472798		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64472798G>C	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1225G>C	12.37:g.64472798G>C	ENSP00000347198:p.Glu409Gln					SRGAP1_uc001srt.2_Missense_Mutation_p.E409Q|SRGAP1_uc001srv.2_Missense_Mutation_p.E369Q	p.E409Q	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	9	1281	+			409					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1225G>C	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805320	0.90623	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.54675	0.56;0.56;0.56	4.26	4.26	0.50523	.	0.000000	0.35124	U	0.003437	T	0.71324	0.3326	M	0.72479	2.2	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.77557	0.96;0.99;0.99	T	0.72304	-0.4333	9	.	.	.	.	17.9947	0.89179	0.0:0.0:1.0:0.0	.	409;369;409	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	Q	409;409;369	ENSP00000347198:E409Q;ENSP00000350480:E409Q;ENSP00000437948:E369Q	.	E	+	1	0	SRGAP1	62759065	1.000000	0.71417	0.999000	0.59377	0.850000	0.48378	9.515000	0.98015	2.653000	0.90120	0.462000	0.41574	GAA		0.468	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1				37	44	0	0	0	1	0	37	44		
ZDHHC17	23390	broad.mit.edu	37	12	77239552	77239552	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:77239552C>T	ENST00000426126.2	+	13	2042	c.1393C>T	c.(1393-1395)Cat>Tat	p.H465Y	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.H465Y|ZDHHC17_ENST00000550789.1_3'UTR	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	465					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						AAAATTTGATCATCATTGCCC	0.348																																						uc001syk.1		NaN																	0					0						c.(1393-1395)CAT>TAT		huntingtin interacting protein 14							190.0	189.0	189.0					12																	77239552		1866	4100	5966	SO:0001583	missense	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77239552C>T	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1393C>T	12.37:g.77239552C>T	ENSP00000403397:p.His465Tyr						p.H465Y	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN			13	1556	+			465			Cytoplasmic (Potential).|DHHC-type.		B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	c.1393C>T	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072693	0.93950	.	.	ENSG00000186908	ENST00000426126;ENST00000334822	T;T	0.38887	1.11;1.11	5.48	5.48	0.80851	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.043732	0.85682	D	0.000000	T	0.72179	0.3428	H	0.97186	3.955	0.80722	D	1	P	0.42973	0.796	P	0.51170	0.661	T	0.81479	-0.0914	10	0.87932	D	0	-11.8109	19.7119	0.96099	0.0:1.0:0.0:0.0	.	465	Q8IUH5	ZDH17_HUMAN	Y	465	ENSP00000403397:H465Y;ENSP00000334868:H465Y	ENSP00000334868:H465Y	H	+	1	0	ZDHHC17	75763683	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.643000	0.83403	2.723000	0.93209	0.650000	0.86243	CAT		0.348	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1		NM_015336		102	113	0	0	0	1	0	102	113		
SLC6A15	55117	broad.mit.edu	37	12	85285836	85285836	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:85285836C>G	ENST00000266682.5	-	2	605	c.64G>C	c.(64-66)Gac>Cac	p.D22H	SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000450363.3_Missense_Mutation_p.D22H|SLC6A15_ENST00000551388.1_Intron	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	22					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GAAAGAAGGTCTTTGACAGAC	0.353																																						uc001szv.2		NaN																	0				pancreas(2)|ovary(1)	3						c.(64-66)GAC>CAC		solute carrier family 6, member 15 isoform 1							214.0	200.0	205.0					12																	85285836		2203	4300	6503	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85285836C>G	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.64G>C	12.37:g.85285836C>G	ENSP00000266682:p.Asp22His					SLC6A15_uc010sul.1_Intron|SLC6A15_uc001szy.2_Missense_Mutation_p.D22H	p.D22H	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			2	557	-			22			Cytoplasmic (Potential).		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.64G>C	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845773	0.91197	.	.	ENSG00000072041	ENST00000266682;ENST00000450363;ENST00000549540	T;T;T	0.74209	-0.82;-0.46;0.84	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.86994	0.6067	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.971;0.994	D	0.86224	0.1633	10	0.49607	T	0.09	.	20.0627	0.97684	0.0:1.0:0.0:0.0	.	22;22	Q9H9F5;Q9H2J7	.;S6A15_HUMAN	H	22	ENSP00000266682:D22H;ENSP00000390706:D22H;ENSP00000448308:D22H	ENSP00000266682:D22H	D	-	1	0	SLC6A15	83809967	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.807000	0.96579	0.591000	0.81541	GAC		0.353	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1		NM_018057, NM_182767		79	113	0	0	0	1	0	79	113		
AMDHD1	144193	broad.mit.edu	37	12	96354209	96354209	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:96354209C>T	ENST00000266736.2	+	5	727	c.621C>T	c.(619-621)atC>atT	p.I207I		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	207					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CTGATGACATCATCAATAACC	0.403																																						uc001tel.1		NaN																	0				central_nervous_system(1)	1						c.(619-621)ATC>ATT		amidohydrolase domain containing 1							90.0	84.0	87.0					12																	96354209		2203	4300	6503	SO:0001819	synonymous_variant	144193				histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding	g.chr12:96354209C>T	AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.621C>T	12.37:g.96354209C>T						AMDHD1_uc009zth.1_Silent_p.I98I	p.I207I	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN			5	727	+			207					A8K463|Q68CI8	Silent	SNP	ENST00000266736.2	37	c.621C>T	CCDS9057.1																																																																																				0.403	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1		NM_152435		17	38	0	0	0	1	0	17	38		
TXNRD1	7296	broad.mit.edu	37	12	104609593	104609593	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:104609593G>A	ENST00000525566.1	+	1	37	c.13G>A	c.(13-15)Gag>Aag	p.E5K	TXNRD1_ENST00000429002.2_Missense_Mutation_p.E5K	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	5					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	GGGCTGCGCCGAGGGCAAGGC	0.721											OREG0022069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(139;555 1836 9186 9946 10884)	uc010swk.1		NaN																	0					0						c.(13-15)GAG>AAG		thioredoxin reductase 1 isoform 3							5.0	7.0	7.0					12																	104609593		1762	3918	5680	SO:0001583	missense	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104609593G>A		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000525566.1:c.13G>A	12.37:g.104609593G>A	ENSP00000434516:p.Glu5Lys		OREG0022069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1383	TXNRD1_uc001tkm.1_Intron	p.E5K	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN			1	35	+			5					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	ENST00000525566.1	37	c.13G>A	CCDS53820.1	.	.	.	.	.	.	.	.	.	.	g	13.19	2.164227	0.38217	.	.	ENSG00000198431	ENST00000525566;ENST00000429002	T;T	0.66280	-0.2;-0.2	3.54	0.804	0.18697	.	.	.	.	.	T	0.31295	0.0792	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.26780	-1.0093	9	0.02654	T	1	.	4.9593	0.14057	0.5911:0.0:0.4089:0.0	.	5	Q16881	TRXR1_HUMAN	K	5	ENSP00000434516:E5K;ENSP00000412045:E5K	ENSP00000412045:E5K	E	+	1	0	TXNRD1	103133723	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.233000	0.09041	0.144000	0.18951	-0.376000	0.06991	GAG		0.721	TXNRD1-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389960.1		NM_003330		3	2	0	0	0	1	0	3	2		
NUAK1	9891	broad.mit.edu	37	12	106461446	106461446	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:106461446C>G	ENST00000261402.2	-	7	2499	c.1120G>C	c.(1120-1122)Gag>Cag	p.E374Q		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	374					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						AAGTCATTCTCTTTCTTGGAT	0.542																																						uc001tlj.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1120-1122)GAG>CAG		AMPK-related protein kinase 5							107.0	101.0	103.0					12																	106461446		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106461446C>G	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1120G>C	12.37:g.106461446C>G	ENSP00000261402:p.Glu374Gln						p.E374Q	NM_014840	NP_055655	O60285	NUAK1_HUMAN			7	2500	-			374					A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.1120G>C	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334406	0.81801	.	.	ENSG00000074590	ENST00000261402;ENST00000553094	T;T	0.74947	-0.89;0.46	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000010	D	0.86331	0.5907	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84108	0.0399	10	0.34782	T	0.22	.	19.7782	0.96405	0.0:1.0:0.0:0.0	.	374	O60285	NUAK1_HUMAN	Q	374;89	ENSP00000261402:E374Q;ENSP00000446873:E89Q	ENSP00000261402:E374Q	E	-	1	0	NUAK1	104985576	1.000000	0.71417	0.996000	0.52242	0.916000	0.54674	7.487000	0.81328	2.667000	0.90743	0.561000	0.74099	GAG		0.542	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2		NM_014840		42	58	0	0	0	1	0	42	58		
ATXN2	6311	broad.mit.edu	37	12	111926344	111926344	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:111926344G>C	ENST00000377617.3	-	15	2817	c.2656C>G	c.(2656-2658)Cag>Gag	p.Q886E	AC002395.1_ENST00000581907.1_RNA|ATXN2_ENST00000389153.4_Missense_Mutation_p.Q621E|ATXN2_ENST00000542287.2_Missense_Mutation_p.Q621E|ATXN2_ENST00000550104.1_Missense_Mutation_p.Q886E|ATXN2_ENST00000535949.1_Missense_Mutation_p.Q597E|ATXN2_ENST00000608853.1_Missense_Mutation_p.Q726E	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	886					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CTGGAAGTCTGAACCCCTTGG	0.498																																						uc001tsj.2		NaN																	0				ovary(1)|breast(1)	2						c.(2656-2658)CAG>GAG		ataxin 2							121.0	117.0	118.0					12																	111926344		2203	4300	6503	SO:0001583	missense	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111926344G>C	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.2656C>G	12.37:g.111926344G>C	ENSP00000366843:p.Gln886Glu					ATXN2_uc001tsh.2_Missense_Mutation_p.Q621E|ATXN2_uc001tsi.2_Missense_Mutation_p.Q597E|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Missense_Mutation_p.Q72E	p.Q886E	NM_002973	NP_002964	Q99700	ATX2_HUMAN			15	2818	-			886					A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	c.2656C>G	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365872	0.61513	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949;ENST00000492467	T;T	0.68479	-0.23;-0.33	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.74688	0.3749	L	0.34521	1.04	0.80722	D	1	D;P;D;D	0.59767	0.969;0.924;0.986;0.982	D;P;D;D	0.72982	0.93;0.9;0.979;0.968	T	0.70392	-0.4884	10	0.29301	T	0.29	-6.4796	19.7884	0.96447	0.0:0.0:1.0:0.0	.	886;597;621;621	Q99700;Q24JQ7;F8VQP2;F8WB06	ATX2_HUMAN;.;.;.	E	621;886;886;621;597;210	ENSP00000366843:Q886E;ENSP00000446576:Q886E	ENSP00000366843:Q886E	Q	-	1	0	ATXN2	110410727	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.159000	0.77483	2.682000	0.91365	0.563000	0.77884	CAG		0.498	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3		NM_002973		33	64	0	0	0	1	0	33	64		
NAA25	80018	broad.mit.edu	37	12	112530905	112530905	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:112530905G>A	ENST00000261745.4	-	2	342	c.94C>T	c.(94-96)Cag>Tag	p.Q32*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	32						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TCTGCTTGCTGAATTGCCATT	0.308																																						uc001ttm.2		NaN																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(94-96)CAG>TAG		mitochondrial distribution and morphology 20							131.0	116.0	121.0					12																	112530905		2202	4300	6502	SO:0001587	stop_gained	80018					cytoplasm	protein binding	g.chr12:112530905G>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.94C>T	12.37:g.112530905G>A	ENSP00000261745:p.Gln32*					NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Nonsense_Mutation_p.Q4*|NAA25_uc009zwa.1_Nonsense_Mutation_p.Q32*	p.Q32*	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN			2	114	-			32			TPR 1.		A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Nonsense_Mutation	SNP	ENST00000261745.4	37	c.94C>T	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	G	35	5.555630	0.96514	.	.	ENSG00000111300	ENST00000261745	.	.	.	5.15	4.27	0.50696	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-1.797	13.9164	0.63899	0.0739:0.0:0.9261:0.0	.	.	.	.	X	32	.	ENSP00000261745:Q32X	Q	-	1	0	NAA25	111015288	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.359000	0.97115	1.300000	0.44818	0.591000	0.81541	CAG		0.308	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1		NM_024953		54	70	0	0	0	1	0	54	70		
TBX5	6910	broad.mit.edu	37	12	114793425	114793425	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:114793425G>C	ENST00000310346.4	-	9	2135	c.1469C>G	c.(1468-1470)tCt>tGt	p.S490C	TBX5_ENST00000349716.5_Missense_Mutation_p.S440C|TBX5_ENST00000405440.2_Missense_Mutation_p.S490C	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	490					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CACGCCATGAGAGTAGAGGAA	0.612																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2		NaN																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(1468-1470)TCT>TGT		T-box 5 isoform 1							56.0	55.0	55.0					12																	114793425		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114793425G>C	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1469C>G	12.37:g.114793425G>C	ENSP00000309913:p.Ser490Cys					TBX5_uc001tvp.2_Missense_Mutation_p.S490C|TBX5_uc001tvq.2_Missense_Mutation_p.S440C	p.S490C	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	9	1964	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		490					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.1469C>G	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586986	0.66105	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000405440	D;D;D	0.88818	-2.39;-2.43;-2.43	5.42	4.5	0.54988	.	0.348813	0.34386	N	0.004005	D	0.85252	0.5654	L	0.34521	1.04	0.80722	D	1	P	0.39576	0.679	B	0.40702	0.338	D	0.86073	0.1539	10	0.72032	D	0.01	.	15.2177	0.73281	0.0:0.0:0.8582:0.1418	.	490	Q99593	TBX5_HUMAN	C	440;490;490	ENSP00000337723:S440C;ENSP00000309913:S490C;ENSP00000384152:S490C	ENSP00000309913:S490C	S	-	2	0	TBX5	113277808	1.000000	0.71417	0.926000	0.36857	0.654000	0.38779	9.476000	0.97823	1.230000	0.43646	0.655000	0.94253	TCT		0.612	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1		NM_080717		20	48	0	0	0	1	0	20	48		
FBXO21	23014	broad.mit.edu	37	12	117583954	117583954	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:117583954C>G	ENST00000330622.5	-	12	1824	c.1825G>C	c.(1825-1827)Gag>Cag	p.E609Q	FBXO21_ENST00000427718.2_Missense_Mutation_p.E602Q			O94952	FBX21_HUMAN	F-box protein 21	609					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TAGACAAACTCCAGATCTTCT	0.453																																					GBM(168;452 2038 13535 17701 43680)	uc001twk.2		NaN																	0				kidney(1)	1						c.(1825-1827)GAG>CAG		F-box only protein 21 isoform 1							158.0	147.0	151.0					12																	117583954		2203	4300	6503	SO:0001583	missense	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117583954C>G	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1825G>C	12.37:g.117583954C>G	ENSP00000328187:p.Glu609Gln					FBXO21_uc001twj.2_Missense_Mutation_p.E602Q|FBXO21_uc009zwq.2_Missense_Mutation_p.E542Q	p.E609Q	NM_033624	NP_296373	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	12	1864	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		609					B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	ENST00000330622.5	37	c.1825G>C	CCDS9184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.99|19.99	3.928942|3.928942	0.73327|0.73327	.|.	.|.	ENSG00000135108|ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622|ENST00000550180	T;T|.	0.48201|.	0.83;0.82|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.259478|.	0.38436|.	N|.	0.001691|.	T|T	0.46580|0.46580	0.1400|0.1400	N|N	0.08118|0.08118	0|0	0.45087|0.45087	D|D	0.998101|0.998101	P;D;D|.	0.56968|.	0.828;0.963;0.978|.	B;P;P|.	0.53146|.	0.374;0.527;0.719|.	T|T	0.43261|0.43261	-0.9402|-0.9402	10|5	0.23302|.	T|.	0.38|.	-24.0749|-24.0749	18.7026|18.7026	0.91626|0.91626	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	458;609;602|.	Q8IUQ5;O94952;O94952-1|.	.;FBX21_HUMAN;.|.	Q|A	602;518;458;609|485	ENSP00000414468:E602Q;ENSP00000328187:E609Q|.	ENSP00000257563:E518Q|.	E|G	-|-	1|2	0|0	FBXO21|FBXO21	116068337|116068337	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.020000|4.020000	0.57189|0.57189	2.410000|2.410000	0.81850|0.81850	0.561000|0.561000	0.74099|0.74099	GAG|GGA		0.453	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1		NM_033624		48	86	0	0	0	1	0	48	86		
GCN1L1	10985	broad.mit.edu	37	12	120575576	120575576	+	Missense_Mutation	SNP	C	C	T	rs146550123		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:120575576C>T	ENST00000300648.6	-	49	6448	c.6436G>A	c.(6436-6438)Gac>Aac	p.D2146N		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2146					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCCCTGTGTCATCCTCTACG	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20087	0.0		0.0	False		,,,				2504	0.0					uc001txo.2		NaN																	0				ovary(4)	4						c.(6436-6438)GAC>AAC		GCN1 general control of amino-acid synthesis							42.0	49.0	47.0					12																	120575576		2124	4222	6346	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120575576C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.6436G>A	12.37:g.120575576C>T	ENSP00000300648:p.Asp2146Asn						p.D2146N	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			49	6449	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2146					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.6436G>A	CCDS41847.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.5	4.153635	0.78114	.	.	ENSG00000089154	ENST00000300648	T	0.64991	-0.13	5.37	5.37	0.77165	Armadillo-like helical (1);Armadillo-type fold (1);	0.122019	0.56097	D	0.000037	T	0.59797	0.2220	L	0.49126	1.545	0.80722	D	1	B	0.25772	0.134	B	0.23018	0.043	T	0.57347	-0.7827	10	0.45353	T	0.12	.	19.1167	0.93344	0.0:1.0:0.0:0.0	.	2146	Q92616	GCN1L_HUMAN	N	2146	ENSP00000300648:D2146N	ENSP00000300648:D2146N	D	-	1	0	GCN1L1	119059959	1.000000	0.71417	0.771000	0.31576	0.933000	0.57130	7.267000	0.78462	2.498000	0.84270	0.514000	0.50259	GAC		0.582	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1				23	21	0	0	0	1	0	23	21		
HNF1A	6927	broad.mit.edu	37	12	121426650	121426650	+	Missense_Mutation	SNP	G	G	A	rs139016696	byFrequency	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:121426650G>A	ENST00000257555.6	+	2	567	c.341G>A	c.(340-342)cGt>cAt	p.R114H	HNF1A_ENST00000400024.2_Missense_Mutation_p.R114H|HNF1A_ENST00000543427.1_5'UTR|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Missense_Mutation_p.R114H|HNF1A_ENST00000402929.1_Missense_Mutation_p.R114H|HNF1A_ENST00000541395.1_Missense_Mutation_p.R114H			P20823	HNF1A_HUMAN	HNF1 homeobox A	114					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R114fs*40(3)|p.R114H(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GACCCGTGGCGTGTGGCGAAG	0.627									Hepatic Adenoma, Familial Clustering of																													uc001tzg.2		NaN																	4	Deletion - Frameshift(3)|Substitution - Missense(1)		liver(3)|endometrium(1)	liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116						c.(340-342)CGT>CAT		hepatic nuclear factor-1-alpha		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	119.0	95.0	104.0		341	5.1	1.0	12	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	missense	HNF1A	NM_000545.5	29	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign	114/632	121426650	3,13003	2203	4300	6503	SO:0001583	missense	6927	Hepatic_Adenoma_Familial_Clustering_of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121426650G>A	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.341G>A	12.37:g.121426650G>A	ENSP00000257555:p.Arg114His					HNF1A_uc001tze.1_Missense_Mutation_p.R114H|HNF1A_uc001tzf.2_Missense_Mutation_p.R114H|HNF1A_uc010szn.1_Missense_Mutation_p.R114H	p.R114H	NM_000545	NP_000536	P20823	HNF1A_HUMAN			2	364	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		114					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	37	c.341G>A	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.906007	0.52333	4.54E-4	1.16E-4	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000543536;ENST00000544680;ENST00000537424;ENST00000543027;ENST00000545458;ENST00000541395;ENST00000340577;ENST00000344370;ENST00000544413	D;D;D	0.98762	-5.12;-5.12;-5.12	5.08	5.08	0.68730	Hepatocyte nuclear factor 1, N-terminal (1);Lambda repressor-like, DNA-binding (2);	0.088676	0.49305	D	0.000151	D	0.95185	0.8439	L	0.31476	0.935	0.80722	D	1	P;B;B;P	0.39964	0.509;0.378;0.378;0.697	B;B;B;B	0.33042	0.13;0.109;0.157;0.139	D	0.94281	0.7520	10	0.30854	T	0.27	-22.0102	11.0148	0.47682	0.0859:0.0:0.9141:0.0	.	114;114;114;114	F5H0K0;P20823;E7EUQ4;E7EMR0	.;HNF1A_HUMAN;.;.	H	114	ENSP00000257555:R114H;ENSP00000443112:R114H;ENSP00000438804:R114H	ENSP00000257555:R114H	R	+	2	0	HNF1A	119911033	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.507000	0.53371	2.348000	0.79779	0.530000	0.56133	CGT		0.627	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5		NM_000545		29	42	0	0	0	1	0	29	42		
SBNO1	55206	broad.mit.edu	37	12	123798237	123798237	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:123798237C>G	ENST00000602398.1	-	24	3277	c.3150G>C	c.(3148-3150)atG>atC	p.M1050I	SBNO1_ENST00000602750.1_Missense_Mutation_p.M1049I|SBNO1_ENST00000267176.4_Missense_Mutation_p.M1049I|SBNO1_ENST00000420886.2_Missense_Mutation_p.M1050I			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1050					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CAATGGATTTCATGACAATTT	0.333																																						uc010tap.1		NaN																	0				breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(3148-3150)ATG>ATC		sno, strawberry notch homolog 1							69.0	71.0	70.0					12																	123798237		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123798237C>G	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3150G>C	12.37:g.123798237C>G	ENSP00000473665:p.Met1050Ile					SBNO1_uc010tao.1_Missense_Mutation_p.M1049I|SBNO1_uc010taq.1_Missense_Mutation_p.M1I|SBNO1_uc001ues.1_Missense_Mutation_p.M1I	p.M1050I	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	23	3150	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1050					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.3150G>C	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357138	0.82243	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.31247	1.5;1.5	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.37999	0.1024	L	0.53617	1.68	0.54753	D	0.999981	P;P;B	0.42757	0.789;0.75;0.134	B;B;B	0.44224	0.444;0.316;0.11	T	0.04825	-1.0924	10	0.32370	T	0.25	-18.6342	19.4863	0.95030	0.0:1.0:0.0:0.0	.	1050;1049;161	A3KN83;A3KN83-2;B3KUC1	SBNO1_HUMAN;.;.	I	1050;1049	ENSP00000387361:M1050I;ENSP00000267176:M1049I	ENSP00000267176:M1049I	M	-	3	0	SBNO1	122364190	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.545000	0.82128	2.618000	0.88619	0.591000	0.81541	ATG		0.333	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1		NM_018183		17	19	0	0	0	1	0	17	19		
DNAH10	196385	broad.mit.edu	37	12	124398990	124398990	+	Silent	SNP	C	C	T	rs374560215	byFrequency	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:124398990C>T	ENST00000409039.3	+	60	10138	c.10113C>T	c.(10111-10113)gaC>gaT	p.D3371D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3371					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGTTCCGTGACGAGATGGTCA	0.597													C|||	6	0.00119808	0.0	0.0	5008	,	,		21017	0.005		0.0	False		,,,				2504	0.001					uc001uft.3		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(10111-10113)GAC>GAT		dynein, axonemal, heavy chain 10							63.0	69.0	67.0					12																	124398990		2036	4197	6233	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124398990C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10113C>T	12.37:g.124398990C>T							p.D3371D	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	60	10138	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3371					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.10113C>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	0.237	-1.016550	0.02078	.	.	ENSG00000197653	ENST00000540041	.	.	.	5.28	-6.35	0.01975	.	.	.	.	.	T	0.44074	0.1276	.	.	.	0.51012	D	0.999901	.	.	.	.	.	.	T	0.44590	-0.9318	4	.	.	.	.	4.6068	0.12382	0.0945:0.1471:0.1881:0.5704	.	.	.	.	M	299	.	.	T	+	2	0	DNAH10	122964943	0.003000	0.15002	0.005000	0.12908	0.171000	0.22731	-1.268000	0.02836	-1.174000	0.02754	-1.036000	0.02392	ACG		0.597	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3				48	55	0	0	0	1	0	48	55		
RIMBP2	23504	broad.mit.edu	37	12	130926567	130926567	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr12:130926567C>A	ENST00000261655.4	-	8	1442	c.1279G>T	c.(1279-1281)Gag>Tag	p.E427*	RIMBP2_ENST00000535703.1_Nonsense_Mutation_p.E335*|RIMBP2_ENST00000536002.1_Nonsense_Mutation_p.E335*	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	427	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)		TCGAACTCCTCCTCGTTGAGG	0.572																																						uc001uil.2		NaN																	0				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(1279-1281)GAG>TAG		RIM-binding protein 2							126.0	88.0	101.0					12																	130926567		2203	4300	6503	SO:0001587	stop_gained	23504					cell junction|synapse		g.chr12:130926567C>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.1279G>T	12.37:g.130926567C>A	ENSP00000261655:p.Glu427*					RIMBP2_uc001uim.2_Nonsense_Mutation_p.E335*|RIMBP2_uc001uin.1_Nonsense_Mutation_p.E86*	p.E427*	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)	8	1443	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	427			Fibronectin type-III 2.		Q96ID2	Nonsense_Mutation	SNP	ENST00000261655.4	37	c.1279G>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	c	49	15.227012	0.99827	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	.	.	.	4.23	3.33	0.38152	.	0.190417	0.45606	D	0.000341	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-21.9432	13.7124	0.62675	0.0:0.8358:0.1642:0.0	.	.	.	.	X	427;335;335;335	.	ENSP00000261655:E427X	E	-	1	0	RIMBP2	129492520	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	2.704000	0.47118	0.725000	0.32318	0.537000	0.68136	GAG		0.572	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1		NM_015347		57	67	1	0	2.66076e-39	1	2.8366e-39	57	67		
MPHOSPH8	54737	broad.mit.edu	37	13	20222578	20222578	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:20222578G>C	ENST00000361479.5	+	4	1303	c.1235G>C	c.(1234-1236)aGa>aCa	p.R412T	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.R412T	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	412					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GAAACCAAAAGAAATGAATCC	0.318																																						uc001umh.2		NaN																	0					0						c.(1234-1236)AGA>ACA		M-phase phosphoprotein 8							50.0	48.0	49.0					13																	20222578		2203	4298	6501	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20222578G>C	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1235G>C	13.37:g.20222578G>C	ENSP00000355388:p.Arg412Thr					MPHOSPH8_uc001umg.2_Missense_Mutation_p.R412T|MPHOSPH8_uc001umi.2_Missense_Mutation_p.R109T	p.R412T	NM_017520	NP_059990	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	4	1244	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	412					B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.1235G>C	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	G	6.155	0.396708	0.11638	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.37235	1.21;1.22	4.78	0.849	0.18972	.	0.527266	0.17046	N	0.189109	T	0.18045	0.0433	N	0.08118	0	0.20074	N	0.999939	B;B;B	0.11235	0.004;0.0;0.004	B;B;B	0.12837	0.008;0.0;0.008	T	0.19063	-1.0317	10	0.62326	D	0.03	.	8.5942	0.33705	0.7646:0.0:0.2354:0.0	.	412;412;412	F5H8H9;Q99549;Q99549-2	.;MPP8_HUMAN;.	T	412	ENSP00000414663:R412T;ENSP00000355388:R412T	ENSP00000355388:R412T	R	+	2	0	MPHOSPH8	19120578	1.000000	0.71417	0.343000	0.25615	0.123000	0.20343	1.716000	0.37981	-0.019000	0.14055	-0.295000	0.09555	AGA		0.318	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2		NM_017520		6	10	0	0	0	1	0	6	10		
SLC7A1	6541	broad.mit.edu	37	13	30091761	30091761	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:30091761C>G	ENST00000380752.5	-	10	1845	c.1459G>C	c.(1459-1461)Gag>Cag	p.E487Q	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	487					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TTGGAAGGCTCCATGTTTTTG	0.463																																						uc001uso.2		NaN																	0					0						c.(1459-1461)GAG>CAG		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						176.0	172.0	174.0					13																	30091761		2203	4300	6503	SO:0001583	missense	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30091761C>G	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1459G>C	13.37:g.30091761C>G	ENSP00000370128:p.Glu487Gln						p.E487Q	NM_003045	NP_003036	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	10	1846	-		Lung SC(185;0.0257)|Breast(139;0.238)	487			Cytoplasmic (Potential).		Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	c.1459G>C	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233465	0.58886	.	.	ENSG00000139514	ENST00000380752	D	0.86497	-2.13	5.13	5.13	0.70059	.	0.175368	0.52532	D	0.000068	D	0.85375	0.5682	L	0.58101	1.795	0.54753	D	0.999984	P	0.37330	0.59	B	0.37015	0.239	D	0.83708	0.0186	10	0.26408	T	0.33	.	17.9395	0.89022	0.0:1.0:0.0:0.0	.	487	P30825	CTR1_HUMAN	Q	487	ENSP00000370128:E487Q	ENSP00000370128:E487Q	E	-	1	0	SLC7A1	28989761	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	7.265000	0.78442	2.568000	0.86640	0.655000	0.94253	GAG		0.463	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2		NM_003045		82	79	0	0	0	1	0	82	79		
SERTM1	400120	broad.mit.edu	37	13	37269507	37269507	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:37269507C>T	ENST00000315190.3	+	2	738	c.292C>T	c.(292-294)Cag>Tag	p.Q98*		NM_203451.2	NP_982276.2	A2A2V5	SRTM1_HUMAN	serine-rich and transmembrane domain containing 1	98						integral component of membrane (GO:0016021)											CATTTCCTCTCAGAGGTCCAC	0.483																																						uc001uvt.3		NaN																	0				skin(1)	1						c.(292-294)CAG>TAG		hypothetical protein LOC400120							71.0	73.0	72.0					13																	37269507		2203	4300	6503	SO:0001587	stop_gained	400120					integral to membrane		g.chr13:37269507C>T		CCDS9358.1	13q13.3	2011-08-10	2011-08-10	2011-08-09	ENSG00000180440	ENSG00000180440			33792	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 36"""	C13orf36			Standard	NM_203451		Approved		uc001uvt.4	A2A2V5	OTTHUMG00000016735	ENST00000315190.3:c.292C>T	13.37:g.37269507C>T	ENSP00000325776:p.Gln98*						p.Q98*	NM_203451	NP_982276	A2A2V5	CM036_HUMAN			2	738	+			98					Q8N469	Nonsense_Mutation	SNP	ENST00000315190.3	37	c.292C>T	CCDS9358.1	.	.	.	.	.	.	.	.	.	.	C	39	7.578331	0.98368	.	.	ENSG00000180440	ENST00000315190	.	.	.	5.18	4.32	0.51571	.	0.191078	0.47455	D	0.000232	.	.	.	.	.	.	0.41812	D	0.989979	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.6814	14.5769	0.68255	0.0:0.8529:0.1471:0.0	.	.	.	.	X	98	.	ENSP00000325776:Q98X	Q	+	1	0	SERTM1	36167507	1.000000	0.71417	0.964000	0.40570	0.934000	0.57294	7.093000	0.76937	1.125000	0.41998	0.557000	0.71058	CAG		0.483	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044518.2		NM_203451		35	37	0	0	0	1	0	35	37		
FREM2	341640	broad.mit.edu	37	13	39432167	39432167	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:39432167C>G	ENST00000280481.7	+	13	7428	c.7212C>G	c.(7210-7212)atC>atG	p.I2404M		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2404					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCATCTGTATCACAGTGAGTA	0.353																																						uc001uwv.2		NaN																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(7210-7212)ATC>ATG		FRAS1-related extracellular matrix protein 2							151.0	130.0	137.0					13																	39432167		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39432167C>G	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7212C>G	13.37:g.39432167C>G	ENSP00000280481:p.Ile2404Met					FREM2_uc001uww.2_Missense_Mutation_p.I490M	p.I2404M	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	13	7521	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2404			Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.7212C>G	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672560	0.47781	.	.	ENSG00000150893	ENST00000280481	T	0.78364	-1.17	5.77	-2.48	0.06423	.	0.368487	0.30676	N	0.009119	T	0.66867	0.2833	L	0.54323	1.7	0.38752	D	0.954129	P;P	0.48089	0.905;0.756	P;B	0.44518	0.452;0.352	T	0.63690	-0.6580	10	0.87932	D	0	.	2.7378	0.05245	0.0963:0.237:0.2068:0.4599	.	2404;2404	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	M	2404	ENSP00000280481:I2404M	ENSP00000280481:I2404M	I	+	3	3	FREM2	38330167	0.000000	0.05858	0.920000	0.36463	0.982000	0.71751	-1.867000	0.01646	-0.094000	0.12374	0.655000	0.94253	ATC		0.353	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2		NM_207361		43	88	0	0	0	1	0	43	88		
RB1	5925	broad.mit.edu	37	13	49050910	49050910	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:49050910G>T	ENST00000267163.4	+	25	2732	c.2594G>T	c.(2593-2595)gGa>gTa	p.G865V	RB1_ENST00000484879.1_3'UTR	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	865	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)"""	AGTGCTGAAGGAAGCAACCCT	0.383		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.(2593-2595)GGA>GTA		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						126.0	123.0	124.0					13																	49050910		2203	4300	6503	SO:0001583	missense	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.chr13:49050910G>T	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.2594G>T	13.37:g.49050910G>T	ENSP00000267163:p.Gly865Val	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.G865V	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	25	2760	+		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)	865			Interaction with LIMD1.|Domain C; mediates interaction with E4F1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.2594G>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115259	0.37339	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	T	0.80566	-1.39	5.84	5.0	0.66597	Rb C-terminal (1);	0.556768	0.17926	N	0.157352	T	0.69214	0.3086	N	0.19112	0.55	0.53005	D	0.999966	B	0.21225	0.053	B	0.28465	0.09	T	0.64249	-0.6452	10	0.39692	T	0.17	.	10.1739	0.42927	0.0715:0.2325:0.696:0.0	.	865	P06400	RB_HUMAN	V	844;865	ENSP00000267163:G865V	ENSP00000267163:G865V	G	+	2	0	RB1	47948911	0.957000	0.32711	1.000000	0.80357	0.998000	0.95712	0.954000	0.29175	1.463000	0.47967	0.591000	0.81541	GGA		0.383	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1				46	78	1	0	6.81593e-30	1	7.21618e-30	46	78		
MYCBP2	23077	broad.mit.edu	37	13	77642919	77642919	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:77642919G>C	ENST00000544440.2	-	70	11855	c.11838C>G	c.(11836-11838)gtC>gtG	p.V3946V	MYCBP2_ENST00000407578.2_Silent_p.V3984V|MYCBP2_ENST00000357337.6_Silent_p.V3946V					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATTCTTCACGGACTCTGGTAG	0.398																																						uc001vkf.2		NaN																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(11836-11838)GTC>GTG		MYC binding protein 2							206.0	171.0	183.0					13																	77642919		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77642919G>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.11838C>G	13.37:g.77642919G>C						MYCBP2_uc010aev.2_Silent_p.V3350V|MYCBP2_uc001vke.2_Silent_p.V563V	p.V3946V	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	71	11929	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3946						Silent	SNP	ENST00000544440.2	37	c.11838C>G		.	.	.	.	.	.	.	.	.	.	G	9.012	0.982634	0.18889	.	.	ENSG00000005810	ENST00000429715	.	.	.	5.67	-2.4	0.06583	.	.	.	.	.	T	0.55049	0.1896	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48854	-0.8998	4	.	.	.	.	10.2093	0.43131	0.1:0.331:0.569:0.0	.	.	.	.	A	367	.	.	P	-	1	0	MYCBP2	76540920	0.320000	0.24616	0.855000	0.33649	0.990000	0.78478	-0.381000	0.07417	-0.987000	0.03494	0.650000	0.86243	CCG		0.398	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1		NM_015057		59	56	0	0	0	1	0	59	56		
EDNRB	1910	broad.mit.edu	37	13	78474013	78474013	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:78474013C>G	ENST00000334286.5	-	6	1411	c.1175G>C	c.(1174-1176)aGa>aCa	p.R392T	EDNRB_ENST00000377211.4_Missense_Mutation_p.R482T|EDNRB_ENST00000446573.1_Missense_Mutation_p.R392T	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	392					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GTTTTTGAATCTTTTGCTCAC	0.338																																						uc001vko.2		NaN																	0					0						c.(1174-1176)AGA>ACA		endothelin receptor type B isoform 1 precursor	Bosentan(DB00559)						87.0	82.0	84.0					13																	78474013		2203	4299	6502	SO:0001583	missense	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78474013C>G	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.1175G>C	13.37:g.78474013C>G	ENSP00000335311:p.Arg392Thr					EDNRB_uc001vkq.1_Missense_Mutation_p.R392T|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.R392T|EDNRB_uc001vkp.1_Missense_Mutation_p.R475T	p.R392T	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	6	1433	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	392			Cytoplasmic (Potential).		A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	c.1175G>C	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614679	0.46631	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.81247	-1.47;-1.47;-1.47	6.06	6.06	0.98353	.	0.042831	0.85682	D	0.000000	D	0.84261	0.5433	L	0.43923	1.385	0.48040	D	0.99957	D;P;D	0.63046	0.992;0.72;0.974	D;P;P	0.65874	0.939;0.525;0.722	T	0.81232	-0.1026	10	0.30854	T	0.27	-21.6408	13.7889	0.63128	0.0:0.9304:0.0:0.0696	.	392;482;392	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	T	482;392;392	ENSP00000366416:R482T;ENSP00000403401:R392T;ENSP00000335311:R392T	ENSP00000335311:R392T	R	-	2	0	EDNRB	77372014	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.761000	0.47589	2.880000	0.98712	0.650000	0.86243	AGA		0.338	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1				39	36	0	0	0	1	0	39	36		
SLITRK5	26050	broad.mit.edu	37	13	88328479	88328479	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr13:88328479C>G	ENST00000325089.6	+	2	1055	c.836C>G	c.(835-837)tCc>tGc	p.S279C	SLITRK5_ENST00000400028.3_Missense_Mutation_p.S38C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	279	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACGAGGTATCCAAGCAGGAA	0.542																																						uc001vln.2		NaN																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(835-837)TCC>TGC		SLIT and NTRK-like family, member 5 precursor							80.0	82.0	81.0					13																	88328479		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328479C>G	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.836C>G	13.37:g.88328479C>G	ENSP00000366283:p.Ser279Cys					SLITRK5_uc010tic.1_Missense_Mutation_p.S38C	p.S279C	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	1055	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		279			LRRCT 1.|Extracellular (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.836C>G	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193489	0.58017	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.57107	0.42;0.42	5.76	5.76	0.90799	Cysteine-rich flanking region, C-terminal (1);	0.059456	0.64402	D	0.000002	T	0.68128	0.2967	L	0.56769	1.78	0.53688	D	0.999971	D;D	0.71674	0.998;0.997	D;D	0.65987	0.912;0.94	T	0.65162	-0.6235	9	.	.	.	-10.8497	17.464	0.87627	0.0:1.0:0.0:0.0	.	38;279	B4DSH5;O94991	.;SLIK5_HUMAN	C	279;38	ENSP00000366283:S279C;ENSP00000442244:S38C	.	S	+	2	0	SLITRK5	87126480	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.765000	0.68834	2.724000	0.93272	0.491000	0.48974	TCC		0.542	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3				32	77	0	0	0	1	0	32	77		
TEP1	7011	broad.mit.edu	37	14	20876254	20876254	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:20876254G>A	ENST00000262715.5	-	2	385	c.345C>T	c.(343-345)ctC>ctT	p.L115L	TEP1_ENST00000556935.1_Silent_p.L115L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	115					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTAGACTAGAGAGGGTGGCCA	0.512																																						uc001vxe.2		NaN																	0				ovary(5)	5						c.(343-345)CTC>CTT		telomerase-associated protein 1							108.0	109.0	109.0					14																	20876254		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20876254G>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.345C>T	14.37:g.20876254G>A						TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.L115L	p.L115L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	2	385	-	all_cancers(95;0.00123)	all_lung(585;0.235)	115			TEP1 N-terminal 4.		A0AUV9	Silent	SNP	ENST00000262715.5	37	c.345C>T	CCDS9548.1																																																																																				0.512	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2		NM_007110		67	110	0	0	0	1	0	67	110		
SUPT16H	11198	broad.mit.edu	37	14	21822642	21822642	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:21822642C>G	ENST00000216297.2	-	23	3056	c.2718G>C	c.(2716-2718)atG>atC	p.M906I		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	906					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CAATGGTCTTCATGATTTTAG	0.463																																						uc001wao.2		NaN																	0					0						c.(2716-2718)ATG>ATC		chromatin-specific transcription elongation							130.0	105.0	113.0					14																	21822642		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21822642C>G	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2718G>C	14.37:g.21822642C>G	ENSP00000216297:p.Met906Ile					SUPT16H_uc001wan.2_Missense_Mutation_p.M50I	p.M906I	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	23	3057	-	all_cancers(95;0.00115)		906					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.2718G>C	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	C	32	5.184349	0.94885	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.76	5.76	0.90799	Domain of unknown function DUF1747, eukaryote (1);	0.000000	0.85682	D	0.000000	T	0.76877	0.4049	M	0.82923	2.615	0.80722	D	1	D	0.55172	0.97	P	0.53102	0.718	T	0.80202	-0.1480	9	0.72032	D	0.01	-20.8352	18.8056	0.92035	0.0:1.0:0.0:0.0	.	906	Q9Y5B9	SP16H_HUMAN	I	906	.	ENSP00000216297:M906I	M	-	3	0	SUPT16H	20892482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.290000	0.65661	2.739000	0.93911	0.644000	0.83932	ATG		0.463	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2				46	58	0	0	0	1	0	46	58		
CMTM5	116173	broad.mit.edu	37	14	23847933	23847933	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:23847933C>T	ENST00000339180.4	+	3	551	c.335C>T	c.(334-336)tCa>tTa	p.S112L	CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000555731.1_Intron|CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000359320.3_Intron|CMTM5_ENST00000382809.2_Intron			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	112	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CTCTCCCACTCAGCAAAGGTC	0.632																																						uc010akm.2		NaN																	0					0						c.(334-336)TCA>TTA		chemokine-like factor superfamily 5 isoform a							36.0	37.0	36.0					14																	23847933		876	1991	2867	SO:0001583	missense	116173				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr14:23847933C>T	BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"""chemokine-like factor super family 5"", ""chemokine-like factor superfamily 5"""	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.335C>T	14.37:g.23847933C>T	ENSP00000344819:p.Ser112Leu					CMTM5_uc001wjs.2_Intron|CMTM5_uc001wjt.2_Intron|CMTM5_uc010akn.2_Intron|CMTM5_uc001wju.2_Intron|CMTM5_uc010ako.2_Intron	p.S112L	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN		GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)	3	779	+	all_cancers(95;2e-05)		112			MARVEL.		E9PH91|Q5PY48	Missense_Mutation	SNP	ENST00000339180.4	37	c.335C>T		.	.	.	.	.	.	.	.	.	.	C	16.07	3.017686	0.54576	.	.	ENSG00000166091	ENST00000339180	T	0.20598	2.06	4.2	-0.298	0.12814	Marvel (1);	477.312000	0.00166	N	0.000001	T	0.16342	0.0393	.	.	.	0.09310	N	0.999999	B	0.09022	0.002	B	0.09377	0.004	T	0.30707	-0.9969	9	0.87932	D	0	-1.1668	3.6603	0.08236	0.0:0.4264:0.1887:0.3848	.	112	Q96DZ9	CKLF5_HUMAN	L	112	ENSP00000344819:S112L	ENSP00000344819:S112L	S	+	2	0	CMTM5	22917773	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	0.418000	0.21230	-0.051000	0.13334	0.643000	0.83706	TCA		0.632	CMTM5-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000133708.2				33	59	0	0	0	1	0	33	59		
CTSG	1511	broad.mit.edu	37	14	25044531	25044531	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:25044531C>G	ENST00000216336.2	-	2	179	c.143G>C	c.(142-144)aGa>aCa	p.R48T		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	48	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CCCTCCACATCTGCTCTGACC	0.592																																						uc001wpq.2		NaN																	0				ovary(2)	2						c.(142-144)AGA>ACA		cathepsin G preproprotein							122.0	115.0	118.0					14																	25044531		2203	4300	6503	SO:0001583	missense	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25044531C>G	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.143G>C	14.37:g.25044531C>G	ENSP00000216336:p.Arg48Thr						p.R48T	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	2	180	-			48			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	ENST00000216336.2	37	c.143G>C	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	C	4.512	0.094946	0.08681	.	.	ENSG00000100448	ENST00000216336	D	0.87650	-2.28	5.23	-10.5	0.00291	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.579040	0.01910	N	0.039784	T	0.72350	0.3449	N	0.25031	0.7	0.09310	N	1	B	0.06786	0.001	B	0.26416	0.069	T	0.62006	-0.6945	10	0.21014	T	0.42	.	1.5905	0.02653	0.3833:0.2794:0.1765:0.1608	.	48	P08311	CATG_HUMAN	T	48	ENSP00000216336:R48T	ENSP00000216336:R48T	R	-	2	0	CTSG	24114371	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.409000	0.01041	-2.502000	0.00509	-0.905000	0.02835	AGA		0.592	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2		NM_001911		114	136	0	0	0	1	0	114	136		
BAZ1A	11177	broad.mit.edu	37	14	35227966	35227966	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:35227966C>G	ENST00000382422.2	-	24	4657	c.4330G>C	c.(4330-4332)Gaa>Caa	p.E1444Q	BAZ1A_ENST00000360310.1_Missense_Mutation_p.E1444Q|BAZ1A_ENST00000358716.4_Missense_Mutation_p.E1412Q			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1444					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CGTACCAATTCTACAACAAGT	0.393																																						uc001wsk.2		NaN																	0				lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(4330-4332)GAA>CAA		bromodomain adjacent to zinc finger domain, 1A							102.0	93.0	96.0					14																	35227966		2203	4300	6503	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35227966C>G	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.4330G>C	14.37:g.35227966C>G	ENSP00000371859:p.Glu1444Gln					BAZ1A_uc001wsl.2_Missense_Mutation_p.E1412Q	p.E1444Q	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	25	4898	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		1444					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.4330G>C	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	.	25.4	4.633219	0.87660	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	T;T;T	0.30981	1.51;1.51;1.51	5.46	4.58	0.56647	Bromodomain (4);	0.055231	0.64402	D	0.000001	T	0.37758	0.1015	L	0.35249	1.045	0.58432	D	0.999998	D;D	0.58970	0.98;0.984	P;P	0.55303	0.663;0.773	T	0.23833	-1.0177	10	0.72032	D	0.01	.	14.2281	0.65873	0.0:0.9281:0.0:0.0719	.	1412;1444	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	Q	1412;1444;1444;1096	ENSP00000351555:E1412Q;ENSP00000371859:E1444Q;ENSP00000353458:E1444Q	ENSP00000351555:E1412Q	E	-	1	0	BAZ1A	34297717	1.000000	0.71417	0.976000	0.42696	0.984000	0.73092	7.294000	0.78760	1.302000	0.44855	0.655000	0.94253	GAA		0.393	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1				41	74	0	0	0	1	0	41	74		
DLGAP5	9787	broad.mit.edu	37	14	55642131	55642131	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:55642131C>T	ENST00000247191.2	-	10	1450	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	DLGAP5_ENST00000395425.2_Missense_Mutation_p.E412K	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	412					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						GATGGGACTTCTTTTATTGGA	0.313																																						uc001xbs.2		NaN																	0				ovary(1)|skin(1)	2						c.(1234-1236)GAA>AAA		discs large homolog 7 isoform a							66.0	64.0	64.0					14																	55642131		2203	4300	6503	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55642131C>T	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1234G>A	14.37:g.55642131C>T	ENSP00000247191:p.Glu412Lys					DLGAP5_uc001xbt.2_Missense_Mutation_p.E412K	p.E412K	NM_014750	NP_055565	Q15398	DLGP5_HUMAN			10	1451	-			412					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.1234G>A	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.250988	0.22880	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.16743	2.32;2.32	5.34	4.45	0.53987	.	1.194920	0.05604	N	0.576845	T	0.22781	0.0550	M	0.71581	2.175	0.25891	N	0.983473	B;B	0.24092	0.097;0.097	B;B	0.23150	0.044;0.028	T	0.43686	-0.9376	10	0.15499	T	0.54	.	10.4275	0.44387	0.0:0.9087:0.0:0.0913	.	412;412	A8MTM6;Q15398	.;DLGP5_HUMAN	K	412	ENSP00000378815:E412K;ENSP00000247191:E412K	ENSP00000247191:E412K	E	-	1	0	DLGAP5	54711884	0.001000	0.12720	0.881000	0.34555	0.022000	0.10575	1.073000	0.30691	1.587000	0.49959	0.650000	0.86243	GAA		0.313	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2		NM_014750		21	16	0	0	0	1	0	21	16		
C14orf105	55195	broad.mit.edu	37	14	57947337	57947337	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:57947337C>T	ENST00000216445.3	-	5	767	c.631G>A	c.(631-633)Gat>Aat	p.D211N	C14orf105_ENST00000534126.1_Missense_Mutation_p.D210N|C14orf105_ENST00000422976.2_Missense_Mutation_p.D210N	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	211										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						AAGATTTCATCAGGCAACATG	0.393																																						uc001xcy.2		NaN																	0					0						c.(631-633)GAT>AAT		hypothetical protein LOC55195							234.0	218.0	224.0					14																	57947337		2203	4300	6503	SO:0001583	missense	55195							g.chr14:57947337C>T	AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.631G>A	14.37:g.57947337C>T	ENSP00000216445:p.Asp211Asn					C14orf105_uc010trl.1_Missense_Mutation_p.D210N|C14orf105_uc010trm.1_Missense_Mutation_p.D122N|C14orf105_uc010trn.1_Missense_Mutation_p.D122N|C14orf105_uc001xcz.2_Missense_Mutation_p.D210N|C14orf105_uc010aox.1_RNA|C14orf105_uc010aoy.1_Missense_Mutation_p.D132N	p.D211N	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN			5	774	-			211					Q53G04	Missense_Mutation	SNP	ENST00000216445.3	37	c.631G>A	CCDS9730.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339976	0.41398	.	.	ENSG00000100557	ENST00000216445;ENST00000422976;ENST00000534126	T;T;T	0.45668	0.89;0.89;0.89	5.98	0.632	0.17705	.	0.945040	0.08889	N	0.878940	T	0.30479	0.0766	L	0.40543	1.245	0.80722	D	1	B;B;B;B;B	0.23377	0.008;0.084;0.008;0.008;0.008	B;B;B;B;B	0.18561	0.009;0.022;0.009;0.009;0.009	T	0.16129	-1.0413	10	0.36615	T	0.2	-3.0992	5.541	0.17038	0.0:0.5439:0.2093:0.2468	.	210;210;210;210;211	B7ZL43;F5GWJ3;Q17R99;E9PSE9;Q9NVL8	.;.;.;.;CN105_HUMAN	N	211;210;210	ENSP00000216445:D211N;ENSP00000392368:D210N;ENSP00000434003:D210N	ENSP00000216445:D211N	D	-	1	0	C14orf105	57017090	0.946000	0.32159	0.994000	0.49952	0.695000	0.40330	-0.026000	0.12392	0.438000	0.26450	-0.145000	0.13849	GAT		0.393	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276921.2		NM_018168		59	89	0	0	0	1	0	59	89		
SYNE2	23224	broad.mit.edu	37	14	64522742	64522742	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:64522742C>T	ENST00000344113.4	+	49	10037	c.9825C>T	c.(9823-9825)ctC>ctT	p.L3275L	SYNE2_ENST00000554584.1_Silent_p.L3308L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Silent_p.L3275L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3275					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCACTTCCCTCGAAGCCATCA	0.408																																						uc001xgm.2		NaN																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(9823-9825)CTC>CTT		spectrin repeat containing, nuclear envelope 2							75.0	70.0	71.0					14																	64522742		1946	4146	6092	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64522742C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.9825C>T	14.37:g.64522742C>T						SYNE2_uc001xgl.2_Silent_p.L3275L|SYNE2_uc010apw.1_5'UTR	p.L3275L	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	49	10055	+			3275			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.9825C>T	CCDS41963.1																																																																																				0.408	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		44	53	0	0	0	1	0	44	53		
SYNE2	23224	broad.mit.edu	37	14	64593421	64593421	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:64593421G>C	ENST00000344113.4	+	73	14025	c.13813G>C	c.(13813-13815)Gaa>Caa	p.E4605Q	SYNE2_ENST00000394768.2_Missense_Mutation_p.E990Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E4556Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.E990Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E1239Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4605Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4605					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTTGCTCCTTGAATGTTTTGA	0.478																																						uc001xgm.2		NaN																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(13813-13815)GAA>CAA		spectrin repeat containing, nuclear envelope 2							112.0	101.0	105.0					14																	64593421		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64593421G>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.13813G>C	14.37:g.64593421G>C	ENSP00000341781:p.Glu4605Gln					SYNE2_uc001xgl.2_Missense_Mutation_p.E4605Q|SYNE2_uc010apy.2_Missense_Mutation_p.E990Q|SYNE2_uc010apz.1_Missense_Mutation_p.E497Q	p.E4605Q	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	73	14043	+			4605			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.13813G>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.299171	0.23650	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.60299	1.26;1.26;1.26;0.2;1.26;1.26	5.87	5.87	0.94306	.	0.566195	0.15519	N	0.258133	T	0.48187	0.1486	L	0.29908	0.895	0.26033	N	0.981716	B;B;B	0.29590	0.025;0.063;0.25	B;B;B	0.29785	0.055;0.093;0.107	T	0.42068	-0.9473	10	0.35671	T	0.21	.	14.9612	0.71158	0.0:0.2603:0.7397:0.0	.	990;4605;4605	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	Q	4605;990;4605;4556;4556;1239;990	ENSP00000350719:E4605Q;ENSP00000349969:E990Q;ENSP00000341781:E4605Q;ENSP00000452570:E4556Q;ENSP00000450831:E1239Q;ENSP00000378249:E990Q	ENSP00000261678:E4556Q	E	+	1	0	SYNE2	63663174	0.682000	0.27624	0.014000	0.15608	0.805000	0.45488	1.619000	0.36965	2.774000	0.95407	0.655000	0.94253	GAA		0.478	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		55	59	0	0	0	1	0	55	59		
SIPA1L1	26037	broad.mit.edu	37	14	72176165	72176165	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:72176165C>G	ENST00000555818.1	+	15	4403	c.4055C>G	c.(4054-4056)tCa>tGa	p.S1352*	SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.S1331*|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.S1331*|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.S806*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1352	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCACCTCGCTCAGGGCCAGGC	0.612																																						uc001xms.2		NaN																	0				ovary(3)|breast(1)	4						c.(4054-4056)TCA>TGA		signal-induced proliferation-associated 1 like							58.0	50.0	52.0					14																	72176165		2203	4300	6503	SO:0001587	stop_gained	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72176165C>G	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4055C>G	14.37:g.72176165C>G	ENSP00000450832:p.Ser1352*					SIPA1L1_uc001xmt.2_Nonsense_Mutation_p.S1331*|SIPA1L1_uc001xmu.2_Nonsense_Mutation_p.S1331*|SIPA1L1_uc001xmv.2_Nonsense_Mutation_p.S1352*|SIPA1L1_uc010ttm.1_Nonsense_Mutation_p.S806*|SIPA1L1_uc001xmw.2_Nonsense_Mutation_p.S117*	p.S1352*	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	15	4403	+			1352			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	Nonsense_Mutation	SNP	ENST00000555818.1	37	c.4055C>G	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	37	6.447209	0.97572	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	.	.	.	5.79	5.79	0.91817	.	0.722904	0.13989	N	0.348916	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-3.5404	20.04	0.97581	0.0:1.0:0.0:0.0	.	.	.	.	X	1331;1352;1331;806	.	ENSP00000351352:S1352X	S	+	2	0	SIPA1L1	71245918	0.802000	0.28943	0.949000	0.38748	0.154000	0.21943	3.079000	0.50104	2.733000	0.93635	0.655000	0.94253	TCA		0.612	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1		NM_015556		32	50	0	0	0	1	0	32	50		
PAPLN	89932	broad.mit.edu	37	14	73727502	73727502	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:73727502G>A	ENST00000554301.1	+	16	2234	c.2071G>A	c.(2071-2073)Ggg>Agg	p.G691R	PAPLN_ENST00000340738.5_Missense_Mutation_p.G664R|PAPLN_ENST00000427855.1_Missense_Mutation_p.G691R|PAPLN_ENST00000381166.3_Missense_Mutation_p.G691R|PAPLN_ENST00000555445.1_Missense_Mutation_p.G691R			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	691						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TGACAGCACCGGGGGCATGCC	0.637																																						uc010ttx.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2071-2073)GGG>AGG		papilin							46.0	43.0	44.0					14																	73727502		2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73727502G>A	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.2071G>A	14.37:g.73727502G>A	ENSP00000451803:p.Gly691Arg					PAPLN_uc001xnw.3_Missense_Mutation_p.G664R|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.G691R|PAPLN_uc010arm.2_5'UTR|PAPLN_uc010arn.2_5'Flank	p.G691R	NM_173462	NP_775733	O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	16	2234	+			691					B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.2071G>A		.	.	.	.	.	.	.	.	.	.	G	3.023	-0.201330	0.06219	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.63255	-0.03;-0.03;0.28;-0.03;0.12	4.57	-0.476	0.12100	.	.	.	.	.	T	0.45597	0.1350	L	0.33668	1.02	0.09310	N	1	B;B;B	0.11235	0.004;0.003;0.002	B;B;B	0.09377	0.004;0.002;0.003	T	0.24476	-1.0159	9	0.22706	T	0.39	.	8.4036	0.32601	0.185:0.0:0.6976:0.1174	.	691;691;664	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	R	664;691;691;691;691	ENSP00000345395:G664R;ENSP00000403403:G691R;ENSP00000370558:G691R;ENSP00000451803:G691R;ENSP00000451729:G691R	ENSP00000216658:G691R	G	+	1	0	PAPLN	72797255	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.220000	0.17660	-0.477000	0.06832	-1.134000	0.01955	GGG		0.637	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1		NM_173462		26	19	0	0	0	1	0	26	19		
TGFB3	7043	broad.mit.edu	37	14	76427367	76427367	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:76427367C>G	ENST00000238682.3	-	6	1276	c.979G>C	c.(979-981)Gat>Cat	p.D327H		NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	327					activation of MAPK activity (GO:0000187)|aging (GO:0007568)|blood coagulation (GO:0007596)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|detection of hypoxia (GO:0070483)|digestive tract development (GO:0048565)|embryonic neurocranium morphogenesis (GO:0048702)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|mammary gland development (GO:0030879)|menstrual cycle phase (GO:0022601)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|odontogenesis (GO:0042476)|ossification involved in bone remodeling (GO:0043932)|palate development (GO:0060021)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell division (GO:0051781)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|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, DNA-templated (GO:0045893)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|salivary gland morphogenesis (GO:0007435)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|T-tubule (GO:0030315)	identical protein binding (GO:0042802)|transforming growth factor beta binding (GO:0050431)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		CAGCCCAGATCCTGTCGGAAG	0.488																																						uc001xsc.2		NaN																	0				breast(1)|skin(1)	2						c.(979-981)GAT>CAT		transforming growth factor, beta 3 precursor							126.0	108.0	114.0					14																	76427367		2203	4300	6503	SO:0001583	missense	7043				cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr14:76427367C>G		CCDS9846.1	14q24	2014-09-17				ENSG00000119699		"""Endogenous ligands"""	11769	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-3"""	190230	"""arrhythmogenic right ventricular dysplasia 1"""	ARVD1, ARVD		16549496, 15639475	Standard	XM_005268028		Approved		uc001xsc.2	P10600		ENST00000238682.3:c.979G>C	14.37:g.76427367C>G	ENSP00000238682:p.Asp327His						p.D327H	NM_003239	NP_003230	P10600	TGFB3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0169)	6	1835	-			327					Q8WV88	Missense_Mutation	SNP	ENST00000238682.3	37	c.979G>C	CCDS9846.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004307	0.93287	.	.	ENSG00000119699	ENST00000238682	D	0.86497	-2.13	5.52	5.52	0.82312	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94814	0.8325	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95314	0.8414	10	0.87932	D	0	-17.3104	19.4348	0.94786	0.0:1.0:0.0:0.0	.	327	P10600	TGFB3_HUMAN	H	327	ENSP00000238682:D327H	ENSP00000238682:D327H	D	-	1	0	TGFB3	75497120	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.026000	0.70873	2.607000	0.88179	0.650000	0.86243	GAT		0.488	TGFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413685.1		NM_003239		54	85	0	0	0	1	0	54	85		
TTC7B	145567	broad.mit.edu	37	14	91123528	91123528	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:91123528G>C	ENST00000328459.6	-	11	1452	c.1331C>G	c.(1330-1332)tCc>tGc	p.S444C	TTC7B_ENST00000357056.2_Missense_Mutation_p.S444C	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	444										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CCAGTGCAGGGAGCCCATGCA	0.622																																						uc001xyp.2		NaN																	0				ovary(2)	2						c.(1330-1332)TCC>TGC		tetratricopeptide repeat domain 7B							66.0	67.0	67.0					14																	91123528		2203	4300	6503	SO:0001583	missense	145567						binding	g.chr14:91123528G>C	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1331C>G	14.37:g.91123528G>C	ENSP00000336127:p.Ser444Cys					TTC7B_uc010ats.2_RNA	p.S444C	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN			11	1453	-		Melanoma(154;0.222)	444					Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	c.1331C>G	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683867	0.88639	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000540938	T;T	0.79141	-1.24;-1.24	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.163737	0.56097	D	0.000026	T	0.78855	0.4349	L	0.50333	1.59	0.80722	D	1	D	0.60575	0.988	P	0.46975	0.533	T	0.80659	-0.1284	10	0.56958	D	0.05	-23.0519	19.6632	0.95882	0.0:0.0:1.0:0.0	.	444	Q86TV6	TTC7B_HUMAN	C	342;444;444;186	ENSP00000349564:S444C;ENSP00000336127:S444C	ENSP00000336127:S444C	S	-	2	0	TTC7B	90193281	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.527000	0.81931	2.716000	0.92895	0.655000	0.94253	TCC		0.622	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2				44	76	0	0	0	1	0	44	76		
ATP10A	57194	broad.mit.edu	37	15	25981266	25981266	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:25981266G>A	ENST00000356865.6	-	3	788	c.677C>T	c.(676-678)aCg>aTg	p.T226M	RNA5SP390_ENST00000410191.1_RNA	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	226					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCTGGTGAACGTCAAAGGATT	0.507																																						uc010ayu.2		NaN																	0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(676-678)ACG>ATG		ATPase, class V, type 10A							132.0	92.0	105.0					15																	25981266		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25981266G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.677C>T	15.37:g.25981266G>A	ENSP00000349325:p.Thr226Met						p.T226M	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	3	783	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	226			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.677C>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423839	0.43020	.	.	ENSG00000206190	ENST00000356865	T	0.76578	-1.03	6.07	1.34	0.21922	ATPase, P-type, ATPase-associated domain (1);	0.256670	0.43747	N	0.000532	T	0.68265	0.2982	L	0.60845	1.875	0.30893	N	0.730145	B	0.31655	0.334	B	0.29663	0.105	T	0.65269	-0.6209	10	0.49607	T	0.09	-15.1447	6.6465	0.22939	0.1528:0.0:0.4832:0.364	.	226	O60312	AT10A_HUMAN	M	226	ENSP00000349325:T226M	ENSP00000349325:T226M	T	-	2	0	ATP10A	23532359	0.537000	0.26386	0.451000	0.26982	0.937000	0.57800	0.196000	0.17176	0.324000	0.23333	0.655000	0.94253	ACG		0.507	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1		NM_024490		24	43	0	0	0	1	0	24	43		
GABRG3	2567	broad.mit.edu	37	15	27772741	27772741	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:27772741G>A	ENST00000333743.6	+	8	1282	c.1028G>A	c.(1027-1029)tGt>tAt	p.C343Y	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	343					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	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)|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)	TATTCCAGCTGTAGAAAACCA	0.522																																					NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1		NaN																	0					0						c.(1027-1029)TGT>TAT		gamma-aminobutyric acid (GABA) A receptor, gamma							73.0	65.0	68.0					15																	27772741		2076	4213	6289	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27772741G>A		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1028G>A	15.37:g.27772741G>A	ENSP00000331912:p.Cys343Tyr						p.C343Y	NM_033223	NP_150092	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	8	1194	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	343			Cytoplasmic (Probable).		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.1028G>A	CCDS45195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.519|5.519	0.280631|0.280631	0.10458|0.10458	.|.	.|.	ENSG00000182256|ENSG00000182256	ENST00000333743|ENST00000451330	D|.	0.84873|.	-1.91|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Neurotransmitter-gated ion-channel transmembrane domain (2);|.	0.139815|.	0.64402|.	D|.	0.000003|.	T|T	0.45013|0.45013	0.1321|0.1321	N|N	0.05124|0.05124	-0.11|-0.11	0.80722|0.80722	D|D	1|1	P|.	0.44309|.	0.832|.	P|.	0.52454|.	0.699|.	T|T	0.41822|0.41822	-0.9487|-0.9487	10|5	0.02654|.	T|.	1|.	.|.	18.3414|18.3414	0.90307|0.90307	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	343|.	Q99928|.	GBRG3_HUMAN|.	Y|I	343|106	ENSP00000331912:C343Y|.	ENSP00000331912:C343Y|.	C|V	+|+	2|1	0|0	GABRG3|GABRG3	25446336|25446336	0.997000|0.997000	0.39634|0.39634	0.201000|0.201000	0.23476|0.23476	0.334000|0.334000	0.28698|0.28698	3.606000|3.606000	0.54095|0.54095	2.562000|2.562000	0.86427|0.86427	0.563000|0.563000	0.77884|0.77884	TGT|GTA		0.522	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2				11	15	0	0	0	1	0	11	15		
RAD51	5888	broad.mit.edu	37	15	41023291	41023291	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:41023291G>A	ENST00000267868.3	+	10	1203	c.935G>A	c.(934-936)tGc>tAc	p.C312Y	RAD51_ENST00000530766.1_3'UTR|RAD51_ENST00000532743.1_Missense_Mutation_p.C313Y|RAD51_ENST00000557850.1_Missense_Mutation_p.C215Y|RAD51_ENST00000423169.2_Silent_p.L271L|RAD51_ENST00000382643.3_Missense_Mutation_p.C313Y	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	312					ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		ACCAGAATCTGCAAAATCTAC	0.423								Homologous recombination																														uc001zmi.3		NaN																	0					0						c.(934-936)TGC>TAC	Homologous_recombination	RAD51 homolog protein isoform 1							142.0	129.0	133.0					15																	41023291		2203	4300	6503	SO:0001583	missense	5888				DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity	g.chr15:41023291G>A	D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 5"""	179617	"""RAD51 (S. cerevisiae) homolog (E coli RecA homolog)"", ""RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)"", ""RAD51 homolog (S. cerevisiae)"""	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.935G>A	15.37:g.41023291G>A	ENSP00000267868:p.Cys312Tyr					RAD51_uc010bbw.2_Silent_p.L271L|RAD51_uc010bbx.2_Missense_Mutation_p.C313Y|RAD51_uc001zmk.3_RNA|RAD51_uc001zml.3_Missense_Mutation_p.C313Y	p.C312Y	NM_002875	NP_002866	Q06609	RAD51_HUMAN		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)	10	1234	+		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	312					B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Missense_Mutation	SNP	ENST00000267868.3	37	c.935G>A	CCDS10062.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869365	0.91587	.	.	ENSG00000051180	ENST00000382642;ENST00000267868;ENST00000532743;ENST00000382643	T;T;T	0.65549	-0.16;-0.16;-0.16	5.24	5.24	0.73138	DNA recombination and repair protein Rad51, C-terminal (1);DNA recombination/repair protein RecA, monomer-monomer interface (1);	0.000000	0.85682	D	0.000000	T	0.79964	0.4537	.	.	.	0.80722	D	1	D;D	0.69078	0.997;0.993	D;D	0.68943	0.961;0.951	T	0.82137	-0.0606	9	0.87932	D	0	-6.4797	19.0238	0.92925	0.0:0.0:1.0:0.0	.	313;312	Q6ZNA8;Q06609	.;RAD51_HUMAN	Y	215;312;313;313	ENSP00000267868:C312Y;ENSP00000433924:C313Y;ENSP00000372088:C313Y	ENSP00000267868:C312Y	C	+	2	0	RAD51	38810583	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.485000	0.97942	2.712000	0.92718	0.650000	0.86243	TGC		0.423	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252358.1		NM_002875, NM_133487		50	66	0	0	0	1	0	50	66		
VPS18	57617	broad.mit.edu	37	15	41192994	41192994	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:41192994G>A	ENST00000220509.5	+	4	2317	c.1978G>A	c.(1978-1980)Gag>Aag	p.E660K	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	660					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGGGGAGACTGAGCAGGCCAT	0.637																																						uc001zne.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(1978-1980)GAG>AAG		vacuolar protein sorting 18							120.0	98.0	105.0					15																	41192994		2203	4300	6503	SO:0001583	missense	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41192994G>A	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1978G>A	15.37:g.41192994G>A	ENSP00000220509:p.Glu660Lys						p.E660K	NM_020857	NP_065908	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	2317	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	660			Clathrin.		Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	c.1978G>A	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518343	0.64634	.	.	ENSG00000104142	ENST00000220509	T	0.19806	2.12	5.93	5.93	0.95920	.	0.089518	0.85682	D	0.000000	T	0.25791	0.0628	L	0.54323	1.7	0.80722	D	1	P	0.34562	0.457	B	0.36030	0.216	T	0.01316	-1.1387	10	0.52906	T	0.07	-23.1544	16.0733	0.80951	0.0:0.17:0.83:0.0	.	660	Q9P253	VPS18_HUMAN	K	660	ENSP00000220509:E660K	ENSP00000220509:E660K	E	+	1	0	VPS18	38980286	1.000000	0.71417	0.967000	0.41034	0.951000	0.60555	6.502000	0.73695	2.815000	0.96918	0.561000	0.74099	GAG		0.637	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2				94	105	0	0	0	1	0	94	105		
FBN1	2200	broad.mit.edu	37	15	48741027	48741027	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:48741027C>T	ENST00000316623.5	-	46	6064	c.5609G>A	c.(5608-5610)gGa>gAa	p.G1870E		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1870	EGF-like 31; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATAAAAGCTTCCAACTGTGTC	0.353																																						uc001zwx.1		NaN																	0				ovary(2)|large_intestine(1)	3						c.(5608-5610)GGA>GAA		fibrillin 1 precursor							101.0	95.0	97.0					15																	48741027		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48741027C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.5609G>A	15.37:g.48741027C>T	ENSP00000325527:p.Gly1870Glu					FBN1_uc010beo.1_RNA	p.G1870E	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	46	5937	-		all_lung(180;0.00279)	1870			EGF-like 31; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.5609G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	34	5.333001	0.95758	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.99557	-6.16	6.16	6.16	0.99307	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99736	0.9896	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97950	1.0331	10	0.87932	D	0	.	20.4549	0.99139	0.0:1.0:0.0:0.0	.	1870	P35555	FBN1_HUMAN	E	1870;438;760	ENSP00000325527:G1870E	ENSP00000325527:G1870E	G	-	2	0	FBN1	46528319	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.811000	0.86092	2.937000	0.99478	0.650000	0.86243	GGA		0.353	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1				31	36	0	0	0	1	0	31	36		
LEO1	123169	broad.mit.edu	37	15	52258162	52258162	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:52258162C>T	ENST00000299601.5	-	2	658	c.598G>A	c.(598-600)Gag>Aag	p.E200K	LEO1_ENST00000315141.5_Missense_Mutation_p.E200K	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	200	Asp-rich.				endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TGTTGTCTCTCATCATCGGAA	0.438																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)	uc002abo.2		NaN																	0					0						c.(598-600)GAG>AAG		Leo1, Paf1/RNA polymerase II complex component,							282.0	274.0	277.0					15																	52258162		2195	4293	6488	SO:0001583	missense	123169				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr15:52258162C>T	AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.598G>A	15.37:g.52258162C>T	ENSP00000299601:p.Glu200Lys					LEO1_uc010bfd.2_Missense_Mutation_p.E200K	p.E200K	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN		all cancers(107;0.00264)	2	614	-			200			Asp-rich.		Q96N99	Missense_Mutation	SNP	ENST00000299601.5	37	c.598G>A	CCDS10146.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321526	0.41096	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.13	5.13	0.70059	.	0.408874	0.24098	N	0.041567	T	0.44095	0.1277	N	0.19112	0.55	0.80722	D	1	B;B	0.25809	0.135;0.083	B;B	0.27887	0.084;0.057	T	0.33369	-0.9871	9	0.11794	T	0.64	.	18.5818	0.91174	0.0:1.0:0.0:0.0	.	200;200	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	K	200	.	ENSP00000299601:E200K	E	-	1	0	LEO1	50045454	1.000000	0.71417	0.504000	0.27639	0.242000	0.25591	4.095000	0.57728	2.392000	0.81423	0.655000	0.94253	GAG		0.438	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2		NM_138792		150	193	0	0	0	1	0	150	193		
TLN2	83660	broad.mit.edu	37	15	63008574	63008574	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:63008574G>C	ENST00000561311.1	+	22	2909	c.2679G>C	c.(2677-2679)ctG>ctC	p.L893L	TLN2_ENST00000306829.6_Silent_p.L893L			Q9Y4G6	TLN2_HUMAN	talin 2	893	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGCAAAGGCTGAGAGAAGCTG	0.502																																						uc002alb.3		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(2677-2679)CTG>CTC		talin 2							52.0	53.0	52.0					15																	63008574		2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63008574G>C	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.2679G>C	15.37:g.63008574G>C							p.L893L	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			20	2679	+			893			Ala-rich.		A6NLB8	Silent	SNP	ENST00000561311.1	37	c.2679G>C	CCDS32261.1																																																																																				0.502	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2				35	48	0	0	0	1	0	35	48		
HCN4	10021	broad.mit.edu	37	15	73615897	73615897	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:73615897G>A	ENST00000261917.3	-	8	3530	c.2537C>T	c.(2536-2538)cCg>cTg	p.P846L		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	846					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.P846L(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CACCTGGGACGGGCTGCTGGC	0.672																																						uc002avp.2		NaN																	1	Substitution - Missense(1)		skin(1)	ovary(5)|liver(1)	6						c.(2536-2538)CCG>CTG		hyperpolarization activated cyclic							52.0	54.0	54.0					15																	73615897		2195	4291	6486	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73615897G>A	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2537C>T	15.37:g.73615897G>A	ENSP00000261917:p.Pro846Leu						p.P846L	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	3531	-			846			Cytoplasmic (Potential).		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.2537C>T	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279316	0.40294	.	.	ENSG00000138622	ENST00000261917	T	0.78246	-1.16	3.59	3.59	0.41128	.	.	.	.	.	T	0.69097	0.3073	L	0.40543	1.245	0.58432	D	0.999997	D	0.57899	0.981	B	0.42771	0.397	T	0.72290	-0.4337	9	0.56958	D	0.05	.	10.7797	0.46371	0.0:0.0:0.8104:0.1896	.	846	Q9Y3Q4	HCN4_HUMAN	L	846	ENSP00000261917:P846L	ENSP00000261917:P846L	P	-	2	0	HCN4	71402950	1.000000	0.71417	0.928000	0.36995	0.668000	0.39293	4.695000	0.61767	1.828000	0.53243	0.462000	0.41574	CCG		0.672	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2		NM_005477		54	84	0	0	0	1	0	54	84		
C15orf39	56905	broad.mit.edu	37	15	75498861	75498861	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:75498861G>C	ENST00000360639.2	+	2	792	c.472G>C	c.(472-474)Gac>Cac	p.D158H	C15orf39_ENST00000394987.4_Missense_Mutation_p.D158H|C15orf39_ENST00000567617.1_Missense_Mutation_p.D158H			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	158						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						ACTGGATGTTGACTGGACTCT	0.612																																						uc002azp.3		NaN																	0					0						c.(472-474)GAC>CAC		hypothetical protein LOC56905							66.0	65.0	65.0					15																	75498861		2197	4295	6492	SO:0001583	missense	56905							g.chr15:75498861G>C	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.472G>C	15.37:g.75498861G>C	ENSP00000353854:p.Asp158His					C15orf39_uc002azq.3_Missense_Mutation_p.D158H|C15orf39_uc002azr.3_5'Flank	p.D158H	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN			2	792	+			158					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.472G>C	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190427	0.38707	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.68479	-0.33;-0.33	5.13	5.13	0.70059	.	0.197039	0.33650	N	0.004697	T	0.76435	0.3987	L	0.60455	1.87	0.39150	D	0.962207	D	0.89917	1.0	D	0.78314	0.991	T	0.79550	-0.1757	10	0.87932	D	0	-20.4556	9.7745	0.40609	0.0949:0.0:0.9051:0.0	.	158	Q6ZRI6	CO039_HUMAN	H	158	ENSP00000353854:D158H;ENSP00000378438:D158H	ENSP00000353854:D158H	D	+	1	0	C15orf39	73285914	0.998000	0.40836	1.000000	0.80357	0.762000	0.43233	3.048000	0.49862	2.393000	0.81446	0.561000	0.74099	GAC		0.612	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1		NM_015492		42	71	0	0	0	1	0	42	71		
NEIL1	79661	broad.mit.edu	37	15	75641328	75641328	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:75641328G>T	ENST00000564784.1	+	3	711	c.82G>T	c.(82-84)Gag>Tag	p.E28*	NEIL1_ENST00000355059.4_Nonsense_Mutation_p.E28*|NEIL1_ENST00000569035.1_Nonsense_Mutation_p.E28*|NEIL1_ENST00000567959.1_Intron			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	28					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						CGGCTGCGTGGAGAAGTCCTC	0.647								Base excision repair (BER), DNA glycosylases																														uc002bad.2		NaN																	0				ovary(1)	1						c.(82-84)GAG>TAG	BER_DNA_glycosylases	nei endonuclease VIII-like 1							41.0	39.0	39.0					15																	75641328		2197	4294	6491	SO:0001587	stop_gained	79661				base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding	g.chr15:75641328G>T	AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.82G>T	15.37:g.75641328G>T	ENSP00000457352:p.Glu28*					NEIL1_uc002bae.2_Nonsense_Mutation_p.E114*	p.E28*	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN			2	588	+			28					D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Nonsense_Mutation	SNP	ENST00000564784.1	37	c.82G>T	CCDS10278.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.938598	0.92526	.	.	ENSG00000140398	ENST00000355059;ENST00000336572	.	.	.	5.4	5.4	0.78164	.	0.206192	0.51477	D	0.000096	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-36.9893	15.3672	0.74531	0.0:0.1396:0.8604:0.0	.	.	.	.	X	28	.	ENSP00000338328:E28X	E	+	1	0	NEIL1	73428381	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	4.408000	0.59761	2.525000	0.85131	0.561000	0.74099	GAG		0.647	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419885.1		NM_024608		29	60	1	0	1.74807e-11	1	1.78893e-11	29	60		
SEC11A	23478	broad.mit.edu	37	15	85259297	85259297	+	Missense_Mutation	SNP	G	G	C	rs373819545		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:85259297G>C	ENST00000268220.7	-	1	650	c.10C>G	c.(10-12)Cta>Gta	p.L4V	SEC11A_ENST00000558134.1_Missense_Mutation_p.L4V|SEC11A_ENST00000455959.3_5'UTR|SEC11A_ENST00000560266.1_Missense_Mutation_p.L4V	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	4					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			AAAAAGTCTAGAGACAGCATG	0.622																																						uc002blb.1		NaN																	0				ovary(1)	1						c.(10-12)CTA>GTA		SEC11-like 1		G	VAL/LEU	0,4006		0,0,2003	40.0	49.0	46.0		10	3.2	1.0	15		46	1,8317		0,1,4158	no	missense	SEC11A	NM_014300.2	32	0,1,6161	CC,CG,GG		0.012,0.0,0.0081	benign	4/180	85259297	1,12323	2003	4159	6162	SO:0001583	missense	23478				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity	g.chr15:85259297G>C	AF061737	CCDS45340.1, CCDS61742.1, CCDS61743.1, CCDS61744.1, CCDS73776.1	15q25.2	2006-11-07	2006-11-07	2006-11-07		ENSG00000140612			17718	protein-coding gene	gene with protein product			"""SEC11-like 1 (S. cerevisiae)"""	SEC11L1			Standard	NM_001271919		Approved	SPC18, sid2895, SPCS4A	uc031qtg.1	P67812		ENST00000268220.7:c.10C>G	15.37:g.85259297G>C	ENSP00000268220:p.Leu4Val					SEC11A_uc002blc.1_5'UTR	p.L4V	NM_014300	NP_055115	P67812	SC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.199)		1	378	-			4			Cytoplasmic (Potential).		B2RAD7|B4DUL4|H0YK72|H0YK83|O75957|P21378|Q53FQ8	Missense_Mutation	SNP	ENST00000268220.7	37	c.10C>G	CCDS45340.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.376831	0.42105	0.0	1.2E-4	ENSG00000140612	ENST00000268220	.	.	.	5.1	3.22	0.36961	.	0.180712	0.37219	U	0.002182	T	0.43590	0.1254	L	0.32530	0.975	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16600	-1.0397	9	0.30078	T	0.28	.	10.5435	0.45047	0.1713:0.0:0.8287:0.0	.	4	P67812	SC11A_HUMAN	V	4	.	ENSP00000268220:L4V	L	-	1	2	SEC11A	83060301	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	3.327000	0.52045	0.335000	0.23614	-1.134000	0.01955	CTA		0.622	SEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418777.1		NM_014300		21	23	0	0	0	1	0	21	23		
AGBL1	123624	broad.mit.edu	37	15	86807733	86807733	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:86807733C>G	ENST00000441037.2	+	10	1288	c.1193C>G	c.(1192-1194)tCc>tGc	p.S398C	AGBL1_ENST00000389298.3_Missense_Mutation_p.S129C|AGBL1_ENST00000421325.2_Missense_Mutation_p.S398C	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	398					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AATGTGCAATCCAATAGTCTC	0.488																																						uc002blz.1		NaN																	0					0						c.(1192-1194)TCC>TGC		ATP/GTP binding protein-like 1							61.0	64.0	63.0					15																	86807733		1930	4155	6085	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86807733C>G	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1193C>G	15.37:g.86807733C>G	ENSP00000413001:p.Ser398Cys					AGBL1_uc002bma.1_Missense_Mutation_p.S129C|AGBL1_uc002bmb.1_Missense_Mutation_p.S92C	p.S398C	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			10	1273	+			398					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.1193C>G	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681265	0.47991	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.10668	2.86;2.85	5.71	1.58	0.23477	Armadillo-type fold (1);	1.186790	0.05923	N	0.633785	T	0.18257	0.0438	L	0.59436	1.845	0.09310	N	1	D;D;B	0.63046	0.992;0.992;0.005	P;P;B	0.53146	0.719;0.719;0.003	T	0.12344	-1.0551	10	0.51188	T	0.08	-0.0839	2.4486	0.04512	0.1357:0.5215:0.1244:0.2185	.	97;129;398	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	C	427;398;129	ENSP00000397173:S398C;ENSP00000373949:S129C	ENSP00000373949:S129C	S	+	2	0	AGBL1	84608737	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.034000	0.12225	0.103000	0.17682	0.650000	0.86243	TCC		0.488	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5		NM_152336		17	42	0	0	0	1	0	17	42		
BLM	641	broad.mit.edu	37	15	91341444	91341444	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:91341444G>A	ENST00000355112.3	+	17	3353	c.3235G>A	c.(3235-3237)Gac>Aac	p.D1079N	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.D1079N	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1079					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGATGTGACTGACGATGTGAA	0.294			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													uc002bpr.2		NaN	yes	Rec		Bloom Syndrome	15	15q26.1	641	Mis|N|F	Bloom Syndrome			"""L, E"""		leukemia|lymphoma|skin squamous cell |other cancers			0				ovary(3)|skin(2)|breast(1)	6						c.(3235-3237)GAC>AAC	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom syndrome protein							92.0	92.0	92.0					15																	91341444		2198	4296	6494	SO:0001583	missense	641	Bloom_syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91341444G>A	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.3235G>A	15.37:g.91341444G>A	ENSP00000347232:p.Asp1079Asn					BLM_uc010uqh.1_Missense_Mutation_p.D1079N|BLM_uc010uqi.1_Missense_Mutation_p.D704N|BLM_uc010bnx.2_Missense_Mutation_p.D1079N|BLM_uc002bpt.2_Missense_Mutation_p.D54N	p.D1079N	NM_000057	NP_000048	P54132	BLM_HUMAN	Lung(145;0.189)		17	3332	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		1079					Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.3235G>A	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594108	0.66219	.	.	ENSG00000197299	ENST00000355112;ENST00000536925;ENST00000543977	T	0.48522	0.81	5.67	5.67	0.87782	RQC domain (2);	0.305274	0.37178	N	0.002220	T	0.51109	0.1655	M	0.70595	2.14	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.12837	0.008;0.008	T	0.47433	-0.9118	10	0.49607	T	0.09	-24.2828	17.2571	0.87060	0.0:0.0:1.0:0.0	.	1079;1079	B2RAN0;P54132	.;BLM_HUMAN	N	1079;709;266	ENSP00000347232:D1079N	ENSP00000347232:D1079N	D	+	1	0	BLM	89142448	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	6.569000	0.73992	2.680000	0.91292	0.591000	0.81541	GAC		0.294	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1				32	32	0	0	0	1	0	32	32		
IGF1R	3480	broad.mit.edu	37	15	99467847	99467847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr15:99467847C>T	ENST00000268035.6	+	13	3327	c.2716C>T	c.(2716-2718)Cag>Tag	p.Q906*	IGF1R_ENST00000558762.1_Nonsense_Mutation_p.Q906*	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	906	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	AGCCCGGATTCAGGCCACATC	0.527																																						uc002bul.2		NaN																	0				lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8						c.(2716-2718)CAG>TAG		insulin-like growth factor 1 receptor precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						135.0	119.0	124.0					15																	99467847		2197	4297	6494	SO:0001587	stop_gained	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99467847C>T	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2716C>T	15.37:g.99467847C>T	ENSP00000268035:p.Gln906*					IGF1R_uc010bon.2_Nonsense_Mutation_p.Q906*|IGF1R_uc010boo.1_RNA	p.Q906*	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		13	2766	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		906			Extracellular (Potential).|Fibronectin type-III 3.		B1B5Y2|Q14CV2|Q9UCC0	Nonsense_Mutation	SNP	ENST00000268035.6	37	c.2716C>T	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	C	46	12.781936	0.99696	.	.	ENSG00000140443	ENST00000268035	.	.	.	5.92	5.92	0.95590	.	0.000000	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.3248	0.98698	0.0:1.0:0.0:0.0	.	.	.	.	X	906	.	ENSP00000268035:Q906X	Q	+	1	0	IGF1R	97285370	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.772000	0.47678	2.818000	0.97014	0.655000	0.94253	CAG		0.527	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2		NM_000875		36	81	0	0	0	1	0	36	81		
GNPTG	84572	broad.mit.edu	37	16	1412126	1412126	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:1412126G>A	ENST00000204679.4	+	6	448	c.405G>A	c.(403-405)caG>caA	p.Q135Q	LA16c-316G12.2_ENST00000569831.1_RNA	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	135					carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				GGAGCCGGCAGAGCAAGGTGG	0.667																																						uc002clm.2		NaN																	0				central_nervous_system(1)	1						c.(403-405)CAG>CAA		N-acetylglucosamine-1-phosphotransferase, gamma							21.0	21.0	21.0					16																	1412126		2196	4292	6488	SO:0001819	synonymous_variant	84572					extracellular region|Golgi apparatus	protein binding	g.chr16:1412126G>A	BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"""GlcNAc-phosphotransferase gamma-subunit"""	607838	"""N-acetylglucosamine-1-phosphotransferase, gamma subunit"", ""chromosome 16 open reading frame 27"""	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835	ENST00000204679.4:c.405G>A	16.37:g.1412126G>A							p.Q135Q	NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN			6	440	+		Hepatocellular(780;0.0893)	135					B2R556|Q6XYD7|Q96L13	Silent	SNP	ENST00000204679.4	37	c.405G>A	CCDS10436.1	.	.	.	.	.	.	.	.	.	.	G	1.021	-0.684952	0.03328	.	.	ENSG00000090581	ENST00000529110	.	.	.	5.13	3.17	0.36434	.	.	.	.	.	T	0.56031	0.1958	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48636	-0.9018	4	.	.	.	-33.176	7.3673	0.26781	0.2714:0.0:0.7286:0.0	.	.	.	.	K	158	.	.	E	+	1	0	GNPTG	1352127	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	2.474000	0.45154	0.575000	0.29434	-0.140000	0.14226	GAG		0.667	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109058.2		NM_032520		8	0	0	0	0	1	0	8	0		
TSC2	7249	broad.mit.edu	37	16	2110794	2110794	+	Missense_Mutation	SNP	C	C	T	rs397515273		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:2110794C>T	ENST00000219476.3	+	11	1729	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	TSC2_ENST00000382538.6_Missense_Mutation_p.R318W|TSC2_ENST00000350773.4_Missense_Mutation_p.R367W|TSC2_ENST00000353929.4_Missense_Mutation_p.R367W|TSC2_ENST00000439673.2_Missense_Mutation_p.R330W|TSC2_ENST00000401874.2_Missense_Mutation_p.R367W|TSC2_ENST00000568454.1_Missense_Mutation_p.R378W	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	367	Required for interaction with TSC1.		R -> Q (in dbSNP:rs1800725). {ECO:0000269|PubMed:15595939}.		acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CATCATCGAACGGCTCCTTCA	0.602			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc002con.2		NaN	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	D|Mis|N|F|S	tuberous sclerosis 2 gene			"""E, O"""		hamartoma|renal cell			0				central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10						c.(1099-1101)CGG>TGG		tuberous sclerosis 2 isoform 1							96.0	81.0	86.0					16																	2110794		2198	4300	6498	SO:0001583	missense	7249	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2110794C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1099C>T	16.37:g.2110794C>T	ENSP00000219476:p.Arg367Trp					TSC2_uc010bsd.2_Missense_Mutation_p.R367W|TSC2_uc002coo.2_Missense_Mutation_p.R367W|TSC2_uc010uvv.1_Missense_Mutation_p.R330W|TSC2_uc010uvw.1_Missense_Mutation_p.R318W|TSC2_uc002cop.2_Missense_Mutation_p.R167W	p.R367W	NM_000548	NP_000539	P49815	TSC2_HUMAN			11	1205	+		Hepatocellular(780;0.0202)	367			Required for interaction with TSC1.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.1099C>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	.	16.80	3.224041	0.58668	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	4.6	3.63	0.41609	Armadillo-like helical (1);Armadillo-type fold (1);Tuberin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87692	0.6241	M	0.65975	2.015	0.54753	D	0.999982	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.997;0.996;0.988;0.999;0.993;0.998	D	0.88552	0.3117	10	0.87932	D	0	-22.8413	13.3839	0.60785	0.2852:0.7148:0.0:0.0	.	318;330;367;367;367;367	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	W	367;367;367;330;318;367	ENSP00000219476:R367W;ENSP00000384468:R367W;ENSP00000248099:R367W;ENSP00000399232:R330W;ENSP00000371978:R318W;ENSP00000344383:R367W	ENSP00000219476:R367W	R	+	1	2	TSC2	2050795	1.000000	0.71417	0.356000	0.25785	0.828000	0.46876	2.302000	0.43637	1.024000	0.39682	0.561000	0.74099	CGG		0.602	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2		NM_000548		47	8	0	0	0	1	0	47	8		
CEMP1	752014	broad.mit.edu	37	16	2580759	2580759	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:2580759G>A	ENST00000567119.1	-	1	650	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000565480.1_Intron|MIR3178_ENST00000581887.1_RNA|CEMP1_ENST00000382350.1_Nonsense_Mutation_p.Q106*|AMDHD2_ENST00000413459.3_Silent_p.*595*|AMDHD2_ENST00000302956.4_3'UTR	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	106						cytoplasm (GO:0005737)				lung(1)|skin(1)	2						GGCCTCGCCTGAGGGAGGGCC	0.632																																						uc002cqr.2		NaN																	0				skin(1)	1						c.(316-318)CAG>TAG		cementum protein 1							31.0	37.0	35.0					16																	2580759		1969	4141	6110	SO:0001587	stop_gained	752014					cytoplasm		g.chr16:2580759G>A	AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"""cementum protein-23"""	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.316C>T	16.37:g.2580759G>A	ENSP00000457380:p.Gln106*					AMDHD2_uc010uwc.1_Silent_p.*595*|AMDHD2_uc010uwd.1_Silent_p.*359*	p.Q106*	NM_001048212	NP_001041677	Q6PRD7	CEMP1_HUMAN			1	672	-			106					B2RUY1	Nonsense_Mutation	SNP	ENST00000567119.1	37	c.316C>T	CCDS42108.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329286	0.60743	.	.	ENSG00000205923	ENST00000382350	.	.	.	1.44	-1.06	0.10002	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	3.2439	0.06791	0.0:0.2968:0.3911:0.3122	.	.	.	.	X	106	.	ENSP00000371787:Q106X	Q	-	1	0	CEMP1	2520760	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.334000	0.07883	-0.293000	0.08986	-0.397000	0.06425	CAG		0.632	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435686.1		NM_001048212		17	4	0	0	0	1	0	17	4		
SRRM2	23524	broad.mit.edu	37	16	2814872	2814872	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:2814872G>C	ENST00000301740.8	+	11	4892	c.4343G>C	c.(4342-4344)aGa>aCa	p.R1448T		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1448	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCAGGACTTAGAGATGGGTCT	0.493																																						uc002crk.2		NaN																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(4342-4344)AGA>ACA		splicing coactivator subunit SRm300							89.0	91.0	91.0					16																	2814872		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2814872G>C	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4343G>C	16.37:g.2814872G>C	ENSP00000301740:p.Arg1448Thr					SRRM2_uc002crj.1_Missense_Mutation_p.R1352T|SRRM2_uc002crl.1_Missense_Mutation_p.R1448T|SRRM2_uc010bsu.1_Missense_Mutation_p.R1352T	p.R1448T	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	4892	+			1448			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.4343G>C	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351575	0.24512	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.27890	1.64	5.82	4.78	0.61160	.	0.096756	0.46442	D	0.000292	T	0.17238	0.0414	L	0.29908	0.895	0.28373	N	0.919891	B	0.33694	0.421	B	0.24848	0.056	T	0.14144	-1.0483	10	0.66056	D	0.02	-13.522	4.311	0.10971	0.1275:0.0:0.6447:0.2277	.	1448	Q9UQ35	SRRM2_HUMAN	T	1448;1448;700	ENSP00000301740:R1448T	ENSP00000301740:R1448T	R	+	2	0	SRRM2	2754873	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.890000	0.48609	2.767000	0.95098	0.655000	0.94253	AGA		0.493	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1				86	22	0	0	0	1	0	86	22		
SRRM2	23524	broad.mit.edu	37	16	2815072	2815072	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:2815072G>C	ENST00000301740.8	+	11	5092	c.4543G>C	c.(4543-4545)Gaa>Caa	p.E1515Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1515	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCCCAGAGAGAAAGAAGCGG	0.522																																						uc002crk.2		NaN																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(4543-4545)GAA>CAA		splicing coactivator subunit SRm300							120.0	125.0	124.0					16																	2815072		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2815072G>C	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4543G>C	16.37:g.2815072G>C	ENSP00000301740:p.Glu1515Gln					SRRM2_uc002crj.1_Missense_Mutation_p.E1419Q|SRRM2_uc002crl.1_Missense_Mutation_p.E1515Q|SRRM2_uc010bsu.1_Missense_Mutation_p.E1419Q	p.E1515Q	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	5092	+			1515			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.4543G>C	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816138	0.50527	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.37058	1.22	5.9	5.9	0.94986	.	0.088567	0.48767	D	0.000171	T	0.38772	0.1053	L	0.44542	1.39	0.32130	N	0.586825	P	0.47762	0.9	P	0.44811	0.461	T	0.46133	-0.9213	10	0.46703	T	0.11	-6.9109	17.776	0.88508	0.0:0.0:1.0:0.0	.	1515	Q9UQ35	SRRM2_HUMAN	Q	1515;1515;767	ENSP00000301740:E1515Q	ENSP00000301740:E1515Q	E	+	1	0	SRRM2	2755073	0.995000	0.38212	0.997000	0.53966	0.994000	0.84299	1.992000	0.40737	2.806000	0.96561	0.655000	0.94253	GAA		0.522	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1				135	37	0	0	0	1	0	135	37		
ADCY9	115	broad.mit.edu	37	16	4016668	4016668	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:4016668C>G	ENST00000294016.3	-	11	3708	c.3170G>C	c.(3169-3171)gGa>gCa	p.G1057A		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1057					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GATCACCCCTCCGCTGTCATG	0.592																																						uc002cvx.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3169-3171)GGA>GCA		adenylate cyclase 9							179.0	155.0	163.0					16																	4016668		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016668C>G	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3170G>C	16.37:g.4016668C>G	ENSP00000294016:p.Gly1057Ala						p.G1057A	NM_001116	NP_001107	O60503	ADCY9_HUMAN			11	3709	-			1057			Cytoplasmic (Potential).		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.3170G>C	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	2.388	-0.340404	0.05243	.	.	ENSG00000162104	ENST00000294016	T	0.80214	-1.35	5.61	5.61	0.85477	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.102140	0.64402	D	0.000002	T	0.43166	0.1235	N	0.00024	-2.69	0.48830	D	0.999717	B	0.19935	0.04	B	0.23419	0.046	T	0.57406	-0.7817	10	0.27082	T	0.32	.	15.488	0.75582	0.0:0.8621:0.1379:0.0	.	1057	O60503	ADCY9_HUMAN	A	1057	ENSP00000294016:G1057A	ENSP00000294016:G1057A	G	-	2	0	ADCY9	3956669	1.000000	0.71417	0.468000	0.27192	0.969000	0.65631	4.347000	0.59373	2.808000	0.96608	0.655000	0.94253	GGA		0.592	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1				156	35	0	0	0	1	0	156	35		
HMOX2	3163	broad.mit.edu	37	16	4556895	4556895	+	Splice_Site	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:4556895G>A	ENST00000570646.1	+	3	691		c.e3-1		HMOX2_ENST00000398595.3_Splice_Site|HMOX2_ENST00000458134.3_Splice_Site|HMOX2_ENST00000414777.1_Splice_Site|HMOX2_ENST00000575120.1_Splice_Site|HMOX2_ENST00000219700.6_Splice_Site|HMOX2_ENST00000406590.2_Splice_Site	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2						cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						TCTCTCCACAGAATGGCTGAC	0.517											OREG0023582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010bts.2		NaN																	0					0						c.e3-1		heme oxygenase (decyclizing) 2	NADH(DB00157)						129.0	136.0	134.0					16																	4556895		2197	4300	6497	SO:0001630	splice_region_variant	3163				cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding	g.chr16:4556895G>A		CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.87-1G>A	16.37:g.4556895G>A			OREG0023582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	619	HMOX2_uc002cwr.3_Splice_Site_p.R29_splice|HMOX2_uc002cwq.3_Splice_Site_p.R29_splice|HMOX2_uc002cws.3_Splice_Site_p.R83_splice|HMOX2_uc010btt.2_Splice_Site_p.R29_splice|HMOX2_uc002cwt.2_Splice_Site_p.R29_splice	p.R29_splice	NM_001127206	NP_001120678	P30519	HMOX2_HUMAN			3	258	+								A8MT35|D3DUD5|I3L430|O60605	Splice_Site	SNP	ENST00000570646.1	37	c.87_splice	CCDS10517.1	.	.	.	.	.	.	.	.	.	.	G	36	5.805034	0.96967	.	.	ENSG00000103415	ENST00000406590;ENST00000458134;ENST00000219700;ENST00000414777;ENST00000398595	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4084	0.90542	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HMOX2	4496896	1.000000	0.71417	0.992000	0.48379	0.907000	0.53573	5.557000	0.67313	2.768000	0.95171	0.561000	0.74099	.		0.517	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2			Intron	112	30	0	0	0	1	0	112	30		
DNAH3	55567	broad.mit.edu	37	16	21136611	21136611	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:21136611G>C	ENST00000261383.3	-	9	1288	c.1289C>G	c.(1288-1290)tCa>tGa	p.S430*	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Nonsense_Mutation_p.S430*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	430	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)	p.S430*(2)		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)		GTTTCGACTTGAGTCATAGTT	0.483																																						uc010vbe.1		NaN																	2	Substitution - Nonsense(2)		kidney(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(1288-1290)TCA>TGA		dynein, axonemal, heavy chain 3							120.0	118.0	119.0					16																	21136611		2201	4300	6501	SO:0001587	stop_gained	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21136611G>C	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.1289C>G	16.37:g.21136611G>C	ENSP00000261383:p.Ser430*					DNAH3_uc002die.2_Nonsense_Mutation_p.S401*	p.S430*	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	9	1289	-			430			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	c.1289C>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154022	0.78114	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	.	.	.	5.75	5.75	0.90469	.	0.813239	0.11189	N	0.590121	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	18.7237	0.91705	0.0:0.0:1.0:0.0	.	.	.	.	X	430;430;401	.	ENSP00000261383:S430X	S	-	2	0	DNAH3	21044112	1.000000	0.71417	0.151000	0.22473	0.029000	0.11900	4.532000	0.60608	2.725000	0.93324	0.655000	0.94253	TCA		0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		63	21	0	0	0	1	0	63	21		
TMEM159	57146	broad.mit.edu	37	16	21172532	21172532	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:21172532C>G	ENST00000233047.4	+	2	497	c.29C>G	c.(28-30)tCa>tGa	p.S10*	TMEM159_ENST00000572599.1_Nonsense_Mutation_p.S10*|TMEM159_ENST00000451578.2_Nonsense_Mutation_p.S10*|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000572258.1_Nonsense_Mutation_p.S10*|TMEM159_ENST00000261388.3_Nonsense_Mutation_p.S10*|DNAH3_ENST00000415178.1_5'Flank|DNAH3_ENST00000261383.3_5'Flank			Q96B96	TM159_HUMAN	transmembrane protein 159	10						integral component of membrane (GO:0016021)				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		CAGAGTATCTCAAGGGACTTG	0.448																																						uc002dif.3		NaN																	0				ovary(1)	1						c.(28-30)TCA>TGA		transmembrane protein 159							85.0	86.0	86.0					16																	21172532		2201	4300	6501	SO:0001587	stop_gained	57146					integral to membrane		g.chr16:21172532C>G	AF070596	CCDS10595.1	16p12.2	2008-02-05			ENSG00000011638	ENSG00000011638			30136	protein-coding gene	gene with protein product		611304				8619474, 9110174, 15589683	Standard	NM_020422		Approved	promethin	uc002dif.4	Q96B96	OTTHUMG00000131559	ENST00000233047.4:c.29C>G	16.37:g.21172532C>G	ENSP00000233047:p.Ser10*					DNAH3_uc010vbe.1_5'Flank|TMEM159_uc002dig.3_RNA|TMEM159_uc010vbf.1_Nonsense_Mutation_p.S10*|TMEM159_uc002dih.3_Nonsense_Mutation_p.S10*	p.S10*	NM_020422	NP_065155	Q96B96	TM159_HUMAN		GBM - Glioblastoma multiforme(48;0.0972)	2	390	+			10					A6NMA9|B4DEC1|O00323	Nonsense_Mutation	SNP	ENST00000233047.4	37	c.29C>G	CCDS10595.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575221	0.86542	.	.	ENSG00000011638	ENST00000233047;ENST00000261388;ENST00000451578	.	.	.	6.08	5.14	0.70334	.	0.724602	0.12772	N	0.440496	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.319	0.49410	0.0:0.917:0.0:0.083	.	.	.	.	X	10	.	ENSP00000233047:S10X	S	+	2	0	TMEM159	21080033	0.951000	0.32395	0.199000	0.23439	0.528000	0.34623	2.601000	0.46249	1.590000	0.49995	0.655000	0.94253	TCA		0.448	TMEM159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254421.1		NM_020422		29	9	0	0	0	1	0	29	9		
CLN3	1201	broad.mit.edu	37	16	28493700	28493700	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:28493700C>G	ENST00000569430.1	-	14	1729	c.910G>C	c.(910-912)Gaa>Caa	p.E304Q	CLN3_ENST00000357857.9_Missense_Mutation_p.E250Q|CLN3_ENST00000535392.1_Missense_Mutation_p.E226Q|CLN3_ENST00000357076.5_Missense_Mutation_p.E194Q|CLN3_ENST00000354630.5_Missense_Mutation_p.E287Q|CLN3_ENST00000568224.1_Missense_Mutation_p.E226Q|CLN3_ENST00000359984.7_Missense_Mutation_p.E304Q|CLN3_ENST00000360019.2_Missense_Mutation_p.E304Q|CLN3_ENST00000355477.5_Missense_Mutation_p.E256Q|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000357806.7_Missense_Mutation_p.E205Q|CLN3_ENST00000395653.4_Missense_Mutation_p.E204Q|CLN3_ENST00000333496.9_Missense_Mutation_p.E280Q|CLN3_ENST00000565316.1_Missense_Mutation_p.E287Q			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	304					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						AAGAGGAGTTCAAACTGCAAC	0.592																																						uc002dpo.2		NaN																	0					0						c.(910-912)GAA>CAA		ceroid-lipofuscinosis, neuronal 3							67.0	51.0	56.0					16																	28493700		2197	4300	6497	SO:0001583	missense	1201				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	g.chr16:28493700C>G	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.910G>C	16.37:g.28493700C>G	ENSP00000454229:p.Glu304Gln					uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.E226Q|CLN3_uc010vcu.1_Missense_Mutation_p.E204Q|CLN3_uc002dpn.2_Missense_Mutation_p.E205Q|CLN3_uc002dpm.2_Missense_Mutation_p.E250Q|CLN3_uc010vcv.1_Missense_Mutation_p.E280Q|CLN3_uc010byd.2_Intron|CLN3_uc002dpp.2_Missense_Mutation_p.E304Q|CLN3_uc002dpt.1_Missense_Mutation_p.E204Q|CLN3_uc002dpq.1_Missense_Mutation_p.E256Q|CLN3_uc010bye.1_Missense_Mutation_p.E287Q|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Missense_Mutation_p.E177Q|CLN3_uc002dpu.1_Missense_Mutation_p.E202Q|CLN3_uc002dpw.1_Missense_Mutation_p.E151Q|CLN3_uc010vcw.1_Missense_Mutation_p.E250Q|CLN3_uc002dqa.2_3'UTR|CLN3_uc010vcx.1_3'UTR	p.E304Q	NM_000086	NP_000077	Q13286	CLN3_HUMAN			12	1233	-			304					B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	37	c.910G>C	CCDS10632.1	.	.	.	.	.	.	.	.	.	.	c	18.33	3.600213	0.66332	.	.	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000355477;ENST00000357857;ENST00000395653;ENST00000357806;ENST00000357076	T;T;T;T;T;T;T;T;D	0.93763	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;-3.28	5.5	5.5	0.81552	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95551	0.8554	M	0.64170	1.965	0.35618	D	0.809169	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.995;0.999;0.997;1.0	D	0.94959	0.8106	10	0.16420	T	0.52	-16.6004	16.8955	0.86099	0.0:1.0:0.0:0.0	.	280;287;202;204;250;256;304;205	B4DXL3;Q13286-3;O95086;B4DMY6;B4DFF3;Q13286-2;Q13286;O95089	.;.;.;.;.;.;CLN3_HUMAN;.	Q	226;304;304;287;256;250;204;205;194	ENSP00000443221:E226Q;ENSP00000353073:E304Q;ENSP00000353116:E304Q;ENSP00000346650:E287Q;ENSP00000347660:E256Q;ENSP00000350523:E250Q;ENSP00000379014:E204Q;ENSP00000350457:E205Q;ENSP00000349586:E194Q	ENSP00000346650:E287Q	E	-	1	0	CLN3	28401201	1.000000	0.71417	0.990000	0.47175	0.078000	0.17371	6.185000	0.72013	2.594000	0.87642	0.556000	0.70494	GAA		0.592	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2				27	39	0	0	0	1	0	27	39		
CD19	930	broad.mit.edu	37	16	28948444	28948444	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:28948444C>T	ENST00000324662.3	+	8	1229	c.1185C>T	c.(1183-1185)agC>agT	p.S395S	CD19_ENST00000567541.1_Silent_p.S395S|CD19_ENST00000538922.1_Silent_p.S395S			P15391	CD19_HUMAN	CD19 molecule	395					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GGTCCCGGAGCCCGCCGGGAG	0.692																																						uc002drs.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1183-1185)AGC>AGT		CD19 antigen precursor							16.0	17.0	16.0					16																	28948444		2189	4285	6474	SO:0001819	synonymous_variant	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28948444C>T		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.1185C>T	16.37:g.28948444C>T						uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.S395S	p.S395S	NM_001770	NP_001761	P15391	CD19_HUMAN			8	1247	+			395			Cytoplasmic (Potential).		A0N0P9|F5H635|Q96S68|Q9BRD6	Silent	SNP	ENST00000324662.3	37	c.1185C>T	CCDS10644.1																																																																																				0.692	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2				4	6	0	0	0	1	0	4	6		
RNF40	9810	broad.mit.edu	37	16	30777495	30777495	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:30777495G>A	ENST00000324685.6	+	9	1440	c.1005G>A	c.(1003-1005)ctG>ctA	p.L335L	RNF40_ENST00000357890.5_Intron|RNF40_ENST00000402121.3_Intron|RNF40_ENST00000563683.1_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	335					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TTGAGATGCTGAATGCAGAGT	0.592																																						uc002dzq.2		NaN																	0				central_nervous_system(1)	1						c.(1003-1005)CTG>CTA		ring finger protein 40							65.0	68.0	67.0					16																	30777495		2197	4300	6497	SO:0001819	synonymous_variant	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30777495G>A	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1005G>A	16.37:g.30777495G>A						RNF40_uc010caa.2_Silent_p.L335L|RNF40_uc010cab.2_Intron|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Silent_p.L335L|RNF40_uc010vfb.1_Intron|RNF40_uc010vfc.1_5'Flank	p.L335L	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		9	1128	+			335			Potential.		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Silent	SNP	ENST00000324685.6	37	c.1005G>A	CCDS10691.1																																																																																				0.592	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2		NM_014771		53	88	0	0	0	1	0	53	88		
MYLK3	91807	broad.mit.edu	37	16	46764544	46764544	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:46764544G>C	ENST00000394809.4	-	5	1644	c.1529C>G	c.(1528-1530)tCt>tGt	p.S510C	MYLK3_ENST00000536476.1_Missense_Mutation_p.S169C	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	510					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GTAACCCGCAGAGATGGAGGT	0.612																																						uc002eei.3		NaN																	0				stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7						c.(1528-1530)TCT>TGT		myosin light chain kinase 3							152.0	127.0	136.0					16																	46764544		2203	4300	6503	SO:0001583	missense	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46764544G>C	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1529C>G	16.37:g.46764544G>C	ENSP00000378288:p.Ser510Cys					MYLK3_uc010vge.1_Missense_Mutation_p.S169C|MYLK3_uc002eej.1_Missense_Mutation_p.S169C	p.S510C	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN			5	1645	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	510					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.1529C>G	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053811	0.36277	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.70045	-0.45;-0.42	5.52	4.57	0.56435	Protein kinase-like domain (1);	0.267202	0.20033	N	0.100677	T	0.71508	0.3348	M	0.64997	1.995	0.09310	N	1	B;D	0.59357	0.17;0.985	B;P	0.51193	0.27;0.662	T	0.66101	-0.6007	10	0.72032	D	0.01	.	13.0221	0.58794	0.0793:0.0:0.9207:0.0	.	510;510	B5BUL9;Q32MK0	.;MYLK3_HUMAN	C	510;169	ENSP00000378288:S510C;ENSP00000439297:S169C	ENSP00000378288:S510C	S	-	2	0	MYLK3	45322045	0.085000	0.21516	0.051000	0.19133	0.141000	0.21300	2.571000	0.45990	1.329000	0.45376	0.591000	0.81541	TCT		0.612	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2		NM_182493		72	126	0	0	0	1	0	72	126		
NUP93	9688	broad.mit.edu	37	16	56857669	56857669	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:56857669G>A	ENST00000308159.5	+	8	826	c.705G>A	c.(703-705)ttG>ttA	p.L235L	NUP93_ENST00000542526.1_Silent_p.L112L|NUP93_ENST00000569842.1_Silent_p.L235L|NUP93_ENST00000564887.1_Silent_p.L112L	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	235					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ACGTGTTGTTGACACCGGCAA	0.517																																					Colon(33;610 796 1305 1705 38917)	uc002eka.2		NaN																	0				ovary(1)|lung(1)	2						c.(703-705)TTG>TTA		nucleoporin 93kDa							148.0	135.0	140.0					16																	56857669		2198	4300	6498	SO:0001819	synonymous_variant	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56857669G>A	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.705G>A	16.37:g.56857669G>A						NUP93_uc002ekb.2_Silent_p.L112L|NUP93_uc010vhi.1_Silent_p.L112L	p.L235L	NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN			8	826	+			235					B3KPQ8|Q14705	Silent	SNP	ENST00000308159.5	37	c.705G>A	CCDS10769.1																																																																																				0.517	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4		NM_014669		77	85	0	0	0	1	0	77	85		
SLC12A3	6559	broad.mit.edu	37	16	56899426	56899426	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:56899426C>G	ENST00000563236.1	+	1	304	c.279C>G	c.(277-279)ctC>ctG	p.L93L	SLC12A3_ENST00000438926.2_Silent_p.L93L|SLC12A3_ENST00000566786.1_Silent_p.L93L|SLC12A3_ENST00000262502.5_Silent_p.L93L			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	93					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ACTCCTTCCTCAAGGTAAGTG	0.582																																						uc010ccm.2		NaN																	0				ovary(2)|breast(1)	3						c.(277-279)CTC>CTG		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						56.0	51.0	52.0					16																	56899426		2198	4300	6498	SO:0001819	synonymous_variant	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56899426C>G		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.279C>G	16.37:g.56899426C>G						SLC12A3_uc002ekd.3_Silent_p.L93L|SLC12A3_uc010ccn.2_Silent_p.L93L	p.L93L	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			1	308	+			93			Cytoplasmic (Potential).		A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.279C>G	CCDS58464.1																																																																																				0.582	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1				32	38	0	0	0	1	0	32	38		
FBXL8	55336	broad.mit.edu	37	16	67195736	67195736	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:67195736C>T	ENST00000258200.3	+	2	225	c.48C>T	c.(46-48)atC>atT	p.I16I	RP11-5A19.5_ENST00000518227.1_5'Flank|HSF4_ENST00000264009.8_5'Flank|HSF4_ENST00000421453.1_5'Flank|FBXL8_ENST00000518148.1_Silent_p.I16I|FBXL8_ENST00000519917.1_Silent_p.I16I|HSF4_ENST00000521374.1_5'Flank|TRADD_ENST00000566104.1_5'Flank|TRADD_ENST00000345057.4_5'Flank|HSF4_ENST00000584272.1_5'Flank|FBXL8_ENST00000521920.1_Silent_p.I16I			Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	16	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		TGGCACTCATCTTCCGCCACC	0.682																																						uc002erj.1		NaN																	0					0						c.(46-48)ATC>ATT		F-box and leucine-rich repeat protein 8							43.0	37.0	39.0					16																	67195736		2191	4300	6491	SO:0001819	synonymous_variant	55336						protein binding	g.chr16:67195736C>T	AK002140	CCDS10831.1	16q22.1-q22.3	2013-01-22			ENSG00000135722	ENSG00000135722		"""F-boxes / Leucine-rich repeats"""	17875	protein-coding gene	gene with protein product		609077					Standard	NM_018378		Approved	Fbl8	uc002erk.1	Q96CD0	OTTHUMG00000137514	ENST00000258200.3:c.48C>T	16.37:g.67195736C>T						TRADD_uc002eri.1_5'Flank|TRADD_uc010vjb.1_5'Flank|FBXL8_uc002erk.1_Silent_p.I16I|HSF4_uc002erl.1_5'Flank|HSF4_uc002erm.1_5'Flank|HSF4_uc002ern.1_5'Flank|HSF4_uc010cec.1_5'Flank	p.I16I	NM_018378	NP_060848	Q96CD0	FBXL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)	2	168	+		Ovarian(137;0.0563)	16			F-box.		Q9NUM0	Silent	SNP	ENST00000258200.3	37	c.48C>T	CCDS10831.1																																																																																				0.682	FBXL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268834.2				13	17	0	0	0	1	0	13	17		
FBXL8	55336	broad.mit.edu	37	16	67196840	67196840	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:67196840C>T	ENST00000258200.3	+	3	419	c.242C>T	c.(241-243)tCg>tTg	p.S81L	RP11-5A19.5_ENST00000518227.1_5'Flank|HSF4_ENST00000264009.8_5'Flank|HSF4_ENST00000421453.1_5'Flank|FBXL8_ENST00000519917.1_Missense_Mutation_p.S81L|HSF4_ENST00000521374.1_5'Flank|TRADD_ENST00000345057.4_5'Flank|HSF4_ENST00000584272.1_5'Flank|FBXL8_ENST00000521920.1_3'UTR			Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	81										endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		TTTGAGCCATCGAGGAAGCCG	0.632																																						uc002erj.1		NaN																	0					0						c.(241-243)TCG>TTG		F-box and leucine-rich repeat protein 8							13.0	15.0	14.0					16																	67196840		2108	4153	6261	SO:0001583	missense	55336						protein binding	g.chr16:67196840C>T	AK002140	CCDS10831.1	16q22.1-q22.3	2013-01-22			ENSG00000135722	ENSG00000135722		"""F-boxes / Leucine-rich repeats"""	17875	protein-coding gene	gene with protein product		609077					Standard	NM_018378		Approved	Fbl8	uc002erk.1	Q96CD0	OTTHUMG00000137514	ENST00000258200.3:c.242C>T	16.37:g.67196840C>T	ENSP00000258200:p.Ser81Leu					FBXL8_uc002erk.1_Missense_Mutation_p.S81L|HSF4_uc002erl.1_5'Flank|HSF4_uc002erm.1_5'Flank|HSF4_uc002ern.1_5'Flank|HSF4_uc010cec.1_5'Flank	p.S81L	NM_018378	NP_060848	Q96CD0	FBXL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)	3	362	+		Ovarian(137;0.0563)	81					Q9NUM0	Missense_Mutation	SNP	ENST00000258200.3	37	c.242C>T	CCDS10831.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910242	0.52439	.	.	ENSG00000135722	ENST00000258200;ENST00000519917;ENST00000523893;ENST00000519378	.	.	.	4.95	4.95	0.65309	.	0.230417	0.29113	N	0.013110	T	0.68137	0.2968	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	P	0.59546	0.859	T	0.64253	-0.6451	9	0.26408	T	0.33	-17.7916	15.03	0.71698	0.0:1.0:0.0:0.0	.	81	Q96CD0	FBXL8_HUMAN	L	81	.	ENSP00000258200:S81L	S	+	2	0	FBXL8	65754341	0.022000	0.18835	0.037000	0.18230	0.176000	0.22953	2.249000	0.43169	2.573000	0.86826	0.655000	0.94253	TCG		0.632	FBXL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268834.2				3	2	0	0	0	1	0	3	2		
E2F4	1874	broad.mit.edu	37	16	67228652	67228652	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:67228652C>G	ENST00000379378.3	+	6	636	c.577C>G	c.(577-579)Ctg>Gtg	p.L193V	E2F4_ENST00000564718.1_3'UTR	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	193					blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CATTGAGGTTCTGCTGGTGAA	0.542																																						uc002erz.2		NaN																	0				central_nervous_system(1)	1						c.(577-579)CTG>GTG		E2F transcription factor 4							131.0	118.0	123.0					16																	67228652		2198	4300	6498	SO:0001583	missense	1874				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr16:67228652C>G	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.577C>G	16.37:g.67228652C>G	ENSP00000368686:p.Leu193Val						p.L193V	NM_001950	NP_001941	Q16254	E2F4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)	6	640	+		Ovarian(137;0.0563)	193					A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	c.577C>G	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630424	0.67015	.	.	ENSG00000205250	ENST00000379378	D	0.87256	-2.23	5.91	3.97	0.46021	.	0.000000	0.85682	D	0.000000	D	0.91026	0.7177	L	0.58810	1.83	0.58432	D	0.999996	D	0.69078	0.997	D	0.78314	0.991	D	0.90708	0.4625	10	0.72032	D	0.01	-9.8907	11.3672	0.49679	0.0:0.853:0.0:0.147	.	193	Q16254	E2F4_HUMAN	V	193	ENSP00000368686:L193V	ENSP00000368686:L193V	L	+	1	2	E2F4	65786153	0.989000	0.36119	0.997000	0.53966	0.852000	0.48524	1.622000	0.36997	0.850000	0.35239	-0.140000	0.14226	CTG		0.542	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1		NM_001950		63	58	0	0	0	1	0	63	58		
FAM65A	79567	broad.mit.edu	37	16	67575861	67575861	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:67575861C>G	ENST00000379312.3	+	13	1305	c.1184C>G	c.(1183-1185)tCa>tGa	p.S395*	CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000042381.4_Nonsense_Mutation_p.S391*|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000540839.3_Nonsense_Mutation_p.S411*|FAM65A_ENST00000428437.2_Nonsense_Mutation_p.S405*|FAM65A_ENST00000422602.2_Nonsense_Mutation_p.S411*|CTD-2012K14.4_ENST00000564717.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	395						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCACAGCTCTCAGGCACTGCC	0.622																																						uc010vjp.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1231-1233)TCA>TGA		hypothetical protein LOC79567							41.0	46.0	44.0					16																	67575861		2198	4300	6498	SO:0001587	stop_gained	79567					cytoplasm	binding	g.chr16:67575861C>G	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.1184C>G	16.37:g.67575861C>G	ENSP00000368614:p.Ser395*					FAM65A_uc010cei.1_Nonsense_Mutation_p.S233*|FAM65A_uc002eth.2_Nonsense_Mutation_p.S391*|FAM65A_uc010cej.2_Nonsense_Mutation_p.S394*|FAM65A_uc002eti.1_Nonsense_Mutation_p.S354*|FAM65A_uc010vjq.1_Nonsense_Mutation_p.S405*|FAM65A_uc002etj.1_Nonsense_Mutation_p.S390*|FAM65A_uc002etk.2_Nonsense_Mutation_p.S390*	p.S411*	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	13	1328	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	395					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Nonsense_Mutation	SNP	ENST00000379312.3	37	c.1232C>G	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	C	32	5.184891	0.94885	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	.	.	.	5.12	5.12	0.69794	.	0.203146	0.44097	D	0.000495	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-9.0305	18.6124	0.91290	0.0:1.0:0.0:0.0	.	.	.	.	X	395;391;411;405	.	ENSP00000042381:S391X	S	+	2	0	FAM65A	66133362	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	5.609000	0.67661	2.408000	0.81797	0.543000	0.68304	TCA		0.622	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3		NM_024519		44	71	0	0	0	1	0	44	71		
SLC12A4	6560	broad.mit.edu	37	16	67985897	67985897	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:67985897C>T	ENST00000316341.3	-	8	1101	c.961G>A	c.(961-963)Gac>Aac	p.D321N	SLC12A4_ENST00000338335.3_Missense_Mutation_p.D321N|SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000422611.2_Missense_Mutation_p.D323N|SLC12A4_ENST00000537830.2_Missense_Mutation_p.D315N|SLC12A4_ENST00000572037.1_Missense_Mutation_p.D273N|SLC12A4_ENST00000541864.2_Missense_Mutation_p.D290N|SLC12A4_ENST00000576616.1_Missense_Mutation_p.D321N	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	321					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCACAGATGTCAAACTGGTCC	0.587																																						uc002euz.2		NaN																	0				ovary(1)	1						c.(961-963)GAC>AAC		solute carrier family 12, member 4 isoform a	Bumetanide(DB00887)|Potassium Chloride(DB00761)						100.0	70.0	80.0					16																	67985897		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67985897C>T		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.961G>A	16.37:g.67985897C>T	ENSP00000318557:p.Asp321Asn					SLC12A4_uc010ceu.2_Missense_Mutation_p.D315N|SLC12A4_uc010vkh.1_Missense_Mutation_p.D290N|SLC12A4_uc010vki.1_Missense_Mutation_p.D321N|SLC12A4_uc010vkj.1_Missense_Mutation_p.D323N|SLC12A4_uc002eva.2_Missense_Mutation_p.D321N|SLC12A4_uc002evb.2_RNA	p.D321N	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	8	1102	-		Ovarian(137;0.192)	321					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.961G>A	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813912	0.90790	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.0	5.0	0.66597	.	0.043142	0.85682	D	0.000000	T	0.80138	0.4568	M	0.86953	2.85	0.80722	D	1	P;B;P;B;B;B	0.45283	0.481;0.005;0.855;0.043;0.004;0.005	B;B;P;B;B;B	0.51742	0.187;0.009;0.678;0.047;0.013;0.009	T	0.81241	-0.1022	10	0.38643	T	0.18	.	18.6574	0.91459	0.0:1.0:0.0:0.0	.	323;321;290;315;321;321	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	N	323;290;315;321;321	ENSP00000395983:D323N;ENSP00000438334:D290N;ENSP00000445962:D315N;ENSP00000343374:D321N;ENSP00000318557:D321N	ENSP00000318557:D321N	D	-	1	0	SLC12A4	66543398	1.000000	0.71417	0.995000	0.50966	0.805000	0.45488	6.030000	0.70903	2.499000	0.84300	0.467000	0.42956	GAC		0.587	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4		NM_005072		27	44	0	0	0	1	0	27	44		
SLC7A6OS	84138	broad.mit.edu	37	16	68344264	68344264	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:68344264C>G	ENST00000263997.6	-	2	463	c.445G>C	c.(445-447)Gaa>Caa	p.E149Q	PRMT7_ENST00000449359.3_5'Flank|PRMT7_ENST00000339507.5_5'Flank|PRMT7_ENST00000348497.4_5'Flank|snoU13_ENST00000458872.1_RNA|PRMT7_ENST00000441236.1_5'Flank	NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	149					hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		GAGGCGGCTTCAGGTTCTCCC	0.612																																						uc002evw.1		NaN																	0				ovary(1)	1						c.(445-447)GAA>CAA		solute carrier family 7, member 6 opposite							23.0	25.0	24.0					16																	68344264		2198	4300	6498	SO:0001583	missense	84138				protein transport	cytoplasm|nucleus		g.chr16:68344264C>G		CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558	ENST00000263997.6:c.445G>C	16.37:g.68344264C>G	ENSP00000263997:p.Glu149Gln					PRMT7_uc002evx.1_5'Flank|PRMT7_uc002evy.1_5'Flank|PRMT7_uc010vlg.1_5'Flank	p.E149Q	NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)	2	464	-		Ovarian(137;0.192)	149					Q8TCZ3|Q9H8R8	Missense_Mutation	SNP	ENST00000263997.6	37	c.445G>C	CCDS10865.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493186	0.44352	.	.	ENSG00000103061	ENST00000263997	T	0.18810	2.19	4.25	3.26	0.37387	.	0.821824	0.11464	N	0.561460	T	0.19087	0.0458	L	0.54323	1.7	0.18873	N	0.999989	P	0.37330	0.59	B	0.37943	0.261	T	0.13045	-1.0524	10	0.17369	T	0.5	-13.9625	6.958	0.24582	0.0:0.8677:0.0:0.1323	.	149	Q96CW6	S7A6O_HUMAN	Q	149	ENSP00000263997:E149Q	ENSP00000263997:E149Q	E	-	1	0	SLC7A6OS	66901765	0.011000	0.17503	0.032000	0.17829	0.264000	0.26372	0.959000	0.29240	1.306000	0.44926	0.558000	0.71614	GAA		0.612	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268894.3		NM_032178		23	19	0	0	0	1	0	23	19		
PRMT7	54496	broad.mit.edu	37	16	68380131	68380131	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:68380131G>C	ENST00000339507.5	+	11	1969	c.1139G>C	c.(1138-1140)gGa>gCa	p.G380A	PRMT7_ENST00000449359.3_Missense_Mutation_p.G330A|PRMT7_ENST00000348497.4_Missense_Mutation_p.G306A|PRMT7_ENST00000441236.1_Missense_Mutation_p.G330A			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	380	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CCTCGGTTTGGAGAGATCAAT	0.562																																						uc002evy.1		NaN																	0					0						c.(1138-1140)GGA>GCA		protein arginine methyltransferase 7							77.0	74.0	75.0					16																	68380131		2198	4300	6498	SO:0001583	missense	54496				cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr16:68380131G>C	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.1139G>C	16.37:g.68380131G>C	ENSP00000343103:p.Gly380Ala					PRMT7_uc002evx.1_Missense_Mutation_p.G380A|PRMT7_uc010vlg.1_Missense_Mutation_p.G330A|PRMT7_uc002evz.1_Missense_Mutation_p.G226A	p.G380A	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)	11	1415	+		Ovarian(137;0.192)	380					B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	37	c.1139G>C	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	G	34	5.412144	0.96072	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T;T;T	0.76968	1.86;1.86;-1.06;1.86	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.85248	0.5653	L	0.55103	1.725	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.942;1.0	D;D;P;D	0.97110	1.0;0.996;0.638;1.0	T	0.81795	-0.0769	10	0.27082	T	0.32	-15.9179	17.5338	0.87822	0.0:0.0:1.0:0.0	.	330;306;380;380	Q9NVM4-3;Q9NVM4-2;Q9NVM4;Q9NVM4-4	.;.;ANM7_HUMAN;.	A	330;330;306;380	ENSP00000414716:G330A;ENSP00000409324:G330A;ENSP00000345775:G306A;ENSP00000343103:G380A	ENSP00000343103:G380A	G	+	2	0	PRMT7	66937632	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.638000	0.98445	2.733000	0.93635	0.655000	0.94253	GGA		0.562	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3		NM_019023		49	63	0	0	0	1	0	49	63		
CDH3	1001	broad.mit.edu	37	16	68721629	68721629	+	Silent	SNP	C	C	T	rs376302917		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:68721629C>T	ENST00000264012.4	+	12	2329	c.1785C>T	c.(1783-1785)gtC>gtT	p.V595V	CDH3_ENST00000581171.1_Silent_p.V540V|CDH3_ENST00000429102.2_Silent_p.V595V	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	595	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CGGCAGAGGTCAACGAGGAAG	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18074	0.0		0.0	False		,,,				2504	0.0					uc002ewf.2		NaN																	2	Unknown(2)	p.?(1)	breast(2)	ovary(3)|breast(1)|skin(1)	5						c.(1783-1785)GTC>GTT		cadherin 3, type 1 preproprotein		C		13,4383	20.2+/-43.8	0,13,2185	87.0	63.0	71.0		1785	2.6	1.0	16		71	0,8600		0,0,4300	no	coding-synonymous	CDH3	NM_001793.4		0,13,6485	TT,TC,CC		0.0,0.2957,0.1		595/830	68721629	13,12983	2198	4300	6498	SO:0001819	synonymous_variant	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68721629C>T	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1785C>T	16.37:g.68721629C>T						CDH3_uc010vli.1_Silent_p.V540V	p.V595V	NM_001793	NP_001784	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	12	2917	+		Ovarian(137;0.0564)	595			Cadherin 5.|Extracellular (Potential).		B2R6F4|Q05DI6	Silent	SNP	ENST00000264012.4	37	c.1785C>T	CCDS10868.1																																																																																				0.602	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2		NM_001793		29	42	0	0	0	1	0	29	42		
FA2H	79152	broad.mit.edu	37	16	74761154	74761154	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:74761154G>C	ENST00000219368.3	-	3	563	c.494C>G	c.(493-495)tCt>tGt	p.S165C	FA2H_ENST00000544337.1_Intron	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	165					cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						GACAGTCTTAGAGAGGCCCTC	0.587																																						uc002fde.1		NaN																	0					0						c.(493-495)TCT>TGT		fatty acid 2-hydroxylase							58.0	54.0	55.0					16																	74761154		2198	4300	6498	SO:0001583	missense	79152				cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity	g.chr16:74761154G>C	BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"""Fatty acid hydroxylase domain containing"""	21197	protein-coding gene	gene with protein product	"""fatty acid hydroxylase"""	611026	"""fatty acid hydroxylase domain containing 1"", ""spastic paraplegia 35 (autosomal recessive)"""	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.494C>G	16.37:g.74761154G>C	ENSP00000219368:p.Ser165Cys					FA2H_uc010vmy.1_Intron	p.S165C	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN			3	562	-			165					B7Z8T6|O75213|Q96DK1|Q9H1A5	Missense_Mutation	SNP	ENST00000219368.3	37	c.494C>G	CCDS10911.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185550	0.57909	.	.	ENSG00000103089	ENST00000219368	D	0.95069	-3.6	5.32	4.36	0.52297	.	0.199456	0.53938	D	0.000052	D	0.97126	0.9061	M	0.89163	3.01	0.80722	D	1	D	0.69078	0.997	P	0.60345	0.873	D	0.97746	1.0211	10	0.87932	D	0	-3.2334	15.7875	0.78319	0.0:0.1431:0.8569:0.0	.	165	Q7L5A8	FA2H_HUMAN	C	165	ENSP00000219368:S165C	ENSP00000219368:S165C	S	-	2	0	FA2H	73318655	1.000000	0.71417	0.974000	0.42286	0.396000	0.30629	6.326000	0.72905	1.238000	0.43771	0.563000	0.77884	TCT		0.587	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269015.2		NM_024306		25	38	0	0	0	1	0	25	38		
LDHD	197257	broad.mit.edu	37	16	75150574	75150574	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:75150574C>G	ENST00000450168.2	-	1	95	c.45G>C	c.(43-45)tgG>tgC	p.W15C	LDHD_ENST00000300051.4_Missense_Mutation_p.W15C|RP11-252E2.2_ENST00000563098.1_lincRNA	NM_194436.2	NP_919417.1			lactate dehydrogenase D									p.W15C(1)		endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						AGTAGCCCCTCCAGGGGAACA	0.627																																						uc002fdm.2		NaN																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(43-45)TGG>TGC		D-lactate dehydrogenase isoform 1 precursor							70.0	73.0	72.0					16																	75150574		2198	4300	6498	SO:0001583	missense	197257						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding	g.chr16:75150574C>G	AY092767	CCDS10913.1, CCDS45529.1	16q22.3	2011-01-27			ENSG00000166816	ENSG00000166816			19708	protein-coding gene	gene with protein product		607490				12127981	Standard	NM_153486		Approved		uc002fdm.3	Q86WU2	OTTHUMG00000137605	ENST00000450168.2:c.45G>C	16.37:g.75150574C>G	ENSP00000417011:p.Trp15Cys					LDHD_uc002fdn.2_Missense_Mutation_p.W15C	p.W15C	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN			1	92	-			15						Missense_Mutation	SNP	ENST00000450168.2	37	c.45G>C	CCDS45529.1	.	.	.	.	.	.	.	.	.	.	C	8.590	0.884274	0.17467	.	.	ENSG00000166816	ENST00000450168;ENST00000300051	D;D	0.87412	-2.25;-2.24	4.14	3.17	0.36434	.	1.469900	0.03963	N	0.290296	T	0.81064	0.4745	N	0.22421	0.69	0.49299	D	0.999778	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.62440	-0.6854	10	0.38643	T	0.18	-2.2424	10.0632	0.42288	0.0:0.7958:0.2042:0.0	.	15;15	Q86WU2-2;Q86WU2	.;LDHD_HUMAN	C	15	ENSP00000417011:W15C;ENSP00000300051:W15C	ENSP00000300051:W15C	W	-	3	0	LDHD	73708075	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.014000	0.40951	1.319000	0.45190	0.555000	0.69702	TGG		0.627	LDHD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434651.1		NM_153486		70	112	0	0	0	1	0	70	112		
TERF2IP	54386	broad.mit.edu	37	16	75690294	75690294	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:75690294C>A	ENST00000300086.4	+	3	1082	c.985C>A	c.(985-987)Cta>Ata	p.L329I		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	329					negative regulation of DNA recombination at telomere (GO:0048239)|negative regulation of telomere maintenance (GO:0032205)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of transcription, DNA-templated (GO:0006355)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear chromosome (GO:0000228)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						TAACTTGGATCTATCAACAGT	0.443																																						uc002fet.1		NaN																	0				central_nervous_system(1)	1						c.(985-987)CTA>ATA		telomeric repeat binding factor 2, interacting							148.0	149.0	149.0					16																	75690294		2198	4300	6498	SO:0001583	missense	54386				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding	g.chr16:75690294C>A	AK000669	CCDS32491.1	16q23.1	2012-10-03			ENSG00000166848	ENSG00000166848			19246	protein-coding gene	gene with protein product		605061				10850490	Standard	NM_018975		Approved	RAP1	uc002fet.2	Q9NYB0	OTTHUMG00000177136	ENST00000300086.4:c.985C>A	16.37:g.75690294C>A	ENSP00000300086:p.Leu329Ile						p.L329I	NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN			3	1082	+			329					B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	Missense_Mutation	SNP	ENST00000300086.4	37	c.985C>A	CCDS32491.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874873	0.72180	.	.	ENSG00000166848	ENST00000300086	T	0.45276	0.9	5.75	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.49406	0.1555	L	0.34521	1.04	0.41655	D	0.989159	D	0.76494	0.999	D	0.76071	0.987	T	0.49744	-0.8907	10	0.87932	D	0	-9.0878	8.6992	0.34316	0.0:0.7665:0.0:0.2335	.	329	Q9NYB0	TE2IP_HUMAN	I	329	ENSP00000300086:L329I	ENSP00000300086:L329I	L	+	1	2	TERF2IP	74247795	1.000000	0.71417	0.952000	0.39060	0.995000	0.86356	2.356000	0.44116	0.782000	0.33613	0.591000	0.81541	CTA		0.443	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435519.1		NM_018975		93	168	1	0	1.4958e-60	1	1.60582e-60	93	168		
CENPN	55839	broad.mit.edu	37	16	81053723	81053723	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:81053723G>C	ENST00000305850.5	+	6	1163	c.373G>C	c.(373-375)Gaa>Caa	p.E125Q	CENPN_ENST00000569461.1_3'UTR|CENPN_ENST00000299572.5_Missense_Mutation_p.E125Q|CENPN_ENST00000393335.3_Missense_Mutation_p.E125Q|CENPN_ENST00000428963.2_Missense_Mutation_p.E125Q|CMC2_ENST00000565914.1_Intron|CENPN_ENST00000439957.3_Missense_Mutation_p.E105Q|RP11-303E16.3_ENST00000562315.1_RNA	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	125					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|large_intestine(5)|lung(4)	10						CAGCTTCAGAGAAACTGAGGA	0.423																																						uc002ffx.2		NaN																	0					0						c.(373-375)GAA>CAA		centromere protein N isoform 2							97.0	81.0	86.0					16																	81053723		2202	4300	6502	SO:0001583	missense	55839				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr16:81053723G>C	AK026313	CCDS10931.1, CCDS42199.1, CCDS42200.1, CCDS58482.1, CCDS58483.1	16q23.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000166451	ENSG00000166451			30873	protein-coding gene	gene with protein product		611509	"""chromosome 16 open reading frame 60"""	C16orf60		16622419	Standard	NM_001100625		Approved	FLJ13607, FLJ22660, BM039	uc002ffy.4	Q96H22	OTTHUMG00000137628	ENST00000305850.5:c.373G>C	16.37:g.81053723G>C	ENSP00000305608:p.Glu125Gln					CENPN_uc002ffw.3_Missense_Mutation_p.E125Q|CENPN_uc010vnl.1_Missense_Mutation_p.E125Q|CENPN_uc010vnm.1_Missense_Mutation_p.E105Q|CENPN_uc002ffy.3_Missense_Mutation_p.E125Q	p.E125Q	NM_001100624	NP_001094094	Q96H22	CENPN_HUMAN			6	1163	+			125					A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	Missense_Mutation	SNP	ENST00000305850.5	37	c.373G>C	CCDS42200.1	.	.	.	.	.	.	.	.	.	.	G	9.389	1.074969	0.20227	.	.	ENSG00000166451	ENST00000305850;ENST00000299572;ENST00000439957;ENST00000393335;ENST00000428963	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	5.71	4.76	0.60689	.	0.239229	0.48286	D	0.000182	T	0.17704	0.0425	N	0.19112	0.55	0.35450	D	0.795637	B;B;B;B;B	0.30146	0.123;0.123;0.082;0.123;0.27	B;B;B;B;B	0.29598	0.07;0.051;0.081;0.076;0.104	T	0.17961	-1.0352	10	0.27082	T	0.32	-3.8279	14.5549	0.68094	0.0702:0.0:0.9298:0.0	.	105;125;125;125;125	E7ETS3;E7ES30;A8MZE6;Q96H22;Q96H22-2	.;.;.;CENPN_HUMAN;.	Q	125;125;105;125;125	ENSP00000305608:E125Q;ENSP00000299572:E125Q;ENSP00000395235:E105Q;ENSP00000377007:E125Q;ENSP00000393991:E125Q	ENSP00000299572:E125Q	E	+	1	0	CENPN	79611224	1.000000	0.71417	0.724000	0.30704	0.064000	0.16182	4.857000	0.62939	1.412000	0.46977	0.655000	0.94253	GAA		0.423	CENPN-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269051.1		NM_018455		30	33	0	0	0	1	0	30	33		
BCO1	53630	broad.mit.edu	37	16	81303925	81303925	+	Missense_Mutation	SNP	C	C	G	rs141341532	byFrequency	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:81303925C>G	ENST00000258168.2	+	7	1466	c.1005C>G	c.(1003-1005)ttC>ttG	p.F335L	BCMO1_ENST00000425577.2_Missense_Mutation_p.F266L	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ACCAGCTCTTCTACCTGGCCA	0.577																																						uc002fgn.1		NaN																	0					0						c.(1003-1005)TTC>TTG		beta-carotene 15,15'-monooxygenase							136.0	105.0	116.0					16																	81303925		2202	4300	6502	SO:0001583	missense	53630				retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity	g.chr16:81303925C>G																												ENST00000258168.2:c.1005C>G	16.37:g.81303925C>G	ENSP00000258168:p.Phe335Leu					BCMO1_uc010vnp.1_Missense_Mutation_p.F266L	p.F335L	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN			7	1223	+			335						Missense_Mutation	SNP	ENST00000258168.2	37	c.1005C>G	CCDS10934.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808204	0.50421	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.94576	-3.46;-3.46	5.43	4.48	0.54585	.	0.048709	0.85682	N	0.000000	D	0.92182	0.7521	L	0.28504	0.86	0.52099	D	0.999942	D;P	0.76494	0.999;0.922	D;P	0.65573	0.936;0.677	D	0.88566	0.3126	10	0.05620	T	0.96	-24.8753	6.3393	0.21314	0.1578:0.6927:0.0:0.1494	.	266;335	E7EM88;Q9HAY6	.;BCDO1_HUMAN	L	335;266	ENSP00000258168:F335L;ENSP00000400586:F266L	ENSP00000258168:F335L	F	+	3	2	BCMO1	79861426	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.309000	0.43699	1.281000	0.44480	0.650000	0.86243	TTC		0.577	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1				46	71	0	0	0	1	0	46	71		
ZCCHC14	23174	broad.mit.edu	37	16	87448115	87448115	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:87448115G>A	ENST00000268616.4	-	10	1314	c.1097C>T	c.(1096-1098)tCg>tTg	p.S366L		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	366							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CGGCGGGGCCGAGGGGTTCAG	0.637																																						uc002fjz.1		NaN																	0				upper_aerodigestive_tract(1)|breast(1)	2						c.(1096-1098)TCG>TTG		zinc finger, CCHC domain containing 14							28.0	32.0	31.0					16																	87448115		2198	4299	6497	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87448115G>A	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1097C>T	16.37:g.87448115G>A	ENSP00000268616:p.Ser366Leu					ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.S142L	p.S366L	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	10	1124	-			366					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.1097C>T	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848980	0.32699	.	.	ENSG00000140948	ENST00000268616	T	0.18960	2.18	5.55	5.55	0.83447	.	0.722459	0.13468	N	0.385635	T	0.15176	0.0366	N	0.19112	0.55	0.21861	N	0.999508	P;P	0.40970	0.675;0.734	B;B	0.28784	0.094;0.069	T	0.21930	-1.0231	10	0.66056	D	0.02	-1.5665	19.5144	0.95157	0.0:0.0:1.0:0.0	.	366;366	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	L	366	ENSP00000268616:S366L	ENSP00000268616:S366L	S	-	2	0	ZCCHC14	86005616	0.853000	0.29707	0.428000	0.26697	0.008000	0.06430	6.512000	0.73737	2.618000	0.88619	0.655000	0.94253	TCG		0.637	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1		NM_015144		24	31	0	0	0	1	0	24	31		
KLHDC4	54758	broad.mit.edu	37	16	87741967	87741967	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:87741967G>A	ENST00000270583.5	-	11	1611	c.1553C>T	c.(1552-1554)gCg>gTg	p.A518V	KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.A461V|FLJ00104_ENST00000446344.1_5'Flank|KLHDC4_ENST00000347925.5_Missense_Mutation_p.A487V	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	518										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TCAGTCCTCCGCACCGCTCTC	0.622																																						uc002fki.2		NaN																	0				pancreas(2)	2						c.(1552-1554)GCG>GTG		kelch domain containing 4							82.0	69.0	73.0					16																	87741967		2198	4300	6498	SO:0001583	missense	54758							g.chr16:87741967G>A	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.1553C>T	16.37:g.87741967G>A	ENSP00000270583:p.Ala518Val					LOC100129637_uc002fkg.2_5'Flank|LOC100129637_uc002fke.2_5'Flank|KLHDC4_uc002fkh.1_RNA|KLHDC4_uc010cht.1_Missense_Mutation_p.R203W|KLHDC4_uc002fkj.2_Missense_Mutation_p.A487V|KLHDC4_uc002fkk.2_Missense_Mutation_p.A337V|KLHDC4_uc002fkl.2_Missense_Mutation_p.A461V	p.A518V	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	11	1599	-			518					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Missense_Mutation	SNP	ENST00000270583.5	37	c.1553C>T	CCDS10963.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.15|15.15	2.747135|2.747135	0.49257|0.49257	.|.	.|.	ENSG00000104731|ENSG00000104731	ENST00000270583;ENST00000347925;ENST00000353170|ENST00000316853	T;T;T|.	0.08546|.	3.83;3.08;3.61|.	5.26|5.26	0.419|0.419	0.16438|0.16438	.|.	0.832531|.	0.10782|.	N|.	0.634804|.	T|T	0.28928|0.28928	0.0718|0.0718	N|N	0.22421|0.22421	0.69|0.69	0.18873|0.18873	N|N	0.999985|0.999985	P;P;B|D	0.38370|0.76494	0.628;0.628;0.355|0.999	B;B;B|P	0.24006|0.50490	0.05;0.05;0.036|0.642	T|T	0.14615|0.14615	-1.0466|-1.0466	10|8	0.56958|0.72032	D|D	0.05|0.01	-1.7429|-1.7429	5.3803|5.3803	0.16187|0.16187	0.0:0.17:0.3382:0.4918|0.0:0.17:0.3382:0.4918	.|.	461;487;518|203	Q8TBB5-2;Q8TBB5-3;Q8TBB5|Q9UF94	.;.;KLDC4_HUMAN|.	V|W	518;487;461|203	ENSP00000270583:A518V;ENSP00000325717:A487V;ENSP00000262530:A461V|.	ENSP00000270583:A518V|ENSP00000326148:R203W	A|R	-|-	2|1	0|2	KLHDC4|KLHDC4	86299468|86299468	0.011000|0.011000	0.17503|0.17503	0.015000|0.015000	0.15790|0.15790	0.004000|0.004000	0.04260|0.04260	0.432000|0.432000	0.21461|0.21461	-0.117000|-0.117000	0.11872|0.11872	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.622	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2		NM_017566		59	90	0	0	0	1	0	59	90		
ZC3H18	124245	broad.mit.edu	37	16	88677720	88677720	+	Silent	SNP	C	C	G	rs369086353|rs529387142		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:88677720C>G	ENST00000301011.5	+	8	1451	c.1251C>G	c.(1249-1251)cgC>cgG	p.R417R	ZC3H18_ENST00000452588.2_Silent_p.R441R	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	417						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		agcgcgagcgcgagcgggagc	0.662																																					Ovarian(121;375 2276 20373 38669)	uc002fky.2		NaN																	0				skin(1)	1						c.(1249-1251)CGC>CGG		zinc finger CCCH-type containing 18							7.0	11.0	10.0					16																	88677720		2109	4153	6262	SO:0001819	synonymous_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88677720C>G	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1251C>G	16.37:g.88677720C>G						ZC3H18_uc010voy.1_Silent_p.R300R|ZC3H18_uc010voz.1_Silent_p.R441R|ZC3H18_uc010chw.2_RNA	p.R417R	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	8	1451	+			417			Potential.		Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	37	c.1251C>G	CCDS10967.1																																																																																				0.662	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1		NM_144604		2	5	0	0	0	1	0	2	5		
CDT1	81620	broad.mit.edu	37	16	88870299	88870299	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:88870299C>T	ENST00000301019.4	+	1	679	c.60C>T	c.(58-60)atC>atT	p.I20I		NM_030928.3	NP_112190.2			chromatin licensing and DNA replication factor 1											central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		ccccccgcATCGCGCCGCCCA	0.781																																					Melanoma(159;511 3380 30971)	uc002flu.2		NaN																	0				central_nervous_system(1)	1						c.(58-60)ATC>ATT		chromatin licensing and DNA replication factor							6.0	8.0	7.0					16																	88870299		941	2236	3177	SO:0001819	synonymous_variant	81620				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding	g.chr16:88870299C>T	AF070552	CCDS32510.1	16q24.3	2014-08-12			ENSG00000167513	ENSG00000167513			24576	protein-coding gene	gene with protein product		605525				11896191, 11555648	Standard	NM_030928		Approved	DUP, RIS2	uc002flu.3	Q9H211	OTTHUMG00000173467	ENST00000301019.4:c.60C>T	16.37:g.88870299C>T							p.I20I	NM_030928	NP_112190	Q9H211	CDT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0476)	1	114	+			20			PIP-box K+4 motif.			Silent	SNP	ENST00000301019.4	37	c.60C>T	CCDS32510.1																																																																																				0.781	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423215.1		NM_030928		13	23	0	0	0	1	0	13	23		
ANKRD11	29123	broad.mit.edu	37	16	89350394	89350394	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr16:89350394G>C	ENST00000301030.4	-	9	3016	c.2556C>G	c.(2554-2556)ttC>ttG	p.F852L	ANKRD11_ENST00000378330.2_Missense_Mutation_p.F852L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	852	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCTCCCCTTTGAAATCAAAGG	0.488																																						uc002fmx.1		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2554-2556)TTC>TTG		ankyrin repeat domain 11							61.0	63.0	62.0					16																	89350394		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89350394G>C	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2556C>G	16.37:g.89350394G>C	ENSP00000301030:p.Phe852Leu					ANKRD11_uc002fmy.1_Missense_Mutation_p.F852L|ANKRD11_uc002fnc.1_Missense_Mutation_p.F852L|ANKRD11_uc002fnb.1_Missense_Mutation_p.F809L	p.F852L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	3017	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	852			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.2556C>G	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341464	0.41498	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000330736	T;T	0.35789	1.29;1.29	5.51	0.0508	0.14295	.	0.075263	0.53938	D	0.000042	T	0.23688	0.0573	L	0.50919	1.6	0.80722	D	1	B;B	0.17268	0.021;0.012	B;B	0.15484	0.013;0.006	T	0.14811	-1.0459	10	0.07644	T	0.81	.	7.2827	0.26320	0.2559:0.1104:0.6337:0.0	.	471;852	Q7Z5E5;Q6UB99	.;ANR11_HUMAN	L	852;852;471	ENSP00000301030:F852L;ENSP00000367581:F852L	ENSP00000301030:F852L	F	-	3	2	ANKRD11	87877895	1.000000	0.71417	0.991000	0.47740	0.948000	0.59901	2.613000	0.46351	0.036000	0.15547	-0.997000	0.02515	TTC		0.488	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3		NM_013275		48	59	0	0	0	1	0	48	59		
MYO1C	4641	broad.mit.edu	37	17	1378124	1378124	+	Silent	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:1378124G>T	ENST00000575158.1	-	16	1769	c.1593C>A	c.(1591-1593)ctC>ctA	p.L531L	MYO1C_ENST00000438665.2_Silent_p.L547L|MYO1C_ENST00000545534.2_Silent_p.L542L|MYO1C_ENST00000359786.5_Silent_p.L566L|MYO1C_ENST00000361007.2_Silent_p.L531L			Q12965	MYO1E_HUMAN	myosin IC	526	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGTTCCGGAAGAGAAGGTCAT	0.637																																						uc002fsp.2		NaN																	0					0						c.(1696-1698)CTC>CTA		myosin IC isoform a							49.0	54.0	52.0					17																	1378124		2203	4300	6503	SO:0001819	synonymous_variant	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1378124G>T	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1593C>A	17.37:g.1378124G>T						MYO1C_uc002fsn.2_Silent_p.L547L|MYO1C_uc002fso.2_Silent_p.L531L|MYO1C_uc010vqj.1_Silent_p.L531L|MYO1C_uc010vqk.1_Silent_p.L542L	p.L566L	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	16	1918	-			566			Myosin head-like.		Q14778	Silent	SNP	ENST00000575158.1	37	c.1698C>A	CCDS11003.1																																																																																				0.637	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2				42	7	1	0	2.17126e-26	1	2.29479e-26	42	7		
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:7577127C>T	ENST00000269305.4	-	8	1000	c.811G>A	c.(811-813)Gag>Aag	p.E271K	TP53_ENST00000445888.2_Missense_Mutation_p.E271K|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E271K|TP53_ENST00000455263.2_Missense_Mutation_p.E271K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.E271K	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	271	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|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). {ECO:0000269|PubMed:16959974}.|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and 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.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(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)	ACACGCACCTCAAAGCTGTTC	0.537		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		74	Substitution - Missense(34)|Substitution - Nonsense(18)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)|Insertion - Frameshift(1)	p.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1)	urinary_tract(16)|lung(10)|oesophagus(7)|breast(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(3)|ovary(2)|cervix(1)|biliary_tract(1)|salivary_gland(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.(811-813)GAG>AAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							58.0	51.0	54.0					17																	7577127		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.chr17:7577127C>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.811G>A	17.37:g.7577127C>T	ENSP00000269305:p.Glu271Lys	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_Intron|TP53_uc002gih.2_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K	p.E271K	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1005	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	271		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	|Interaction with E4F1.|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.811G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	35	5.512978	0.96402	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.13	5.13	0.70059	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	0.99849	0.9930	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.993;0.999;1.0	D	0.96522	0.9386	10	0.87932	D	0	-38.0695	16.1198	0.81342	0.0:1.0:0.0:0.0	.	271;271;271;271	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	271;271;271;271;271;260;139	ENSP00000352610:E271K;ENSP00000269305:E271K;ENSP00000398846:E271K;ENSP00000391127:E271K;ENSP00000391478:E271K;ENSP00000425104:E139K	ENSP00000269305:E271K	E	-	1	0	TP53	7517852	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		18	2	0	0	0	1	0	18	2		
C17orf59	54785	broad.mit.edu	37	17	8092765	8092765	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:8092765G>C	ENST00000389017.4	-	1	799	c.694C>G	c.(694-696)Cca>Gca	p.P232A	MIR3676_ENST00000579470.1_RNA	NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN	chromosome 17 open reading frame 59	232	Pro-rich.									large_intestine(2)|lung(3)|urinary_tract(1)	6						GGCGGGGGTGGAGGCGCGCCG	0.682																																						uc010vut.1		NaN																	0					0						c.(694-696)CCA>GCA		hypothetical protein LOC54785							25.0	22.0	23.0					17																	8092765		2175	4264	6439	SO:0001583	missense	54785							g.chr17:8092765G>C	BC018880	CCDS11133.2	17p13.1	2005-12-16			ENSG00000196544	ENSG00000196544			25939	protein-coding gene	gene with protein product						12477932	Standard	NM_017622		Approved	FLJ20014	uc010vut.2	Q96GS4	OTTHUMG00000153930	ENST00000389017.4:c.694C>G	17.37:g.8092765G>C	ENSP00000373669:p.Pro232Ala						p.P232A	NM_017622	NP_060092	Q96GS4	CQ059_HUMAN			1	800	-			232			Pro-rich.		Q53HS4|Q9NXW8	Missense_Mutation	SNP	ENST00000389017.4	37	c.694C>G	CCDS11133.2	.	.	.	.	.	.	.	.	.	.	G	2.526	-0.309647	0.05458	.	.	ENSG00000196544	ENST00000389017	.	.	.	5.48	3.42	0.39159	.	0.352826	0.28877	N	0.013860	T	0.15565	0.0375	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.27571	-1.0070	9	0.10636	T	0.68	-0.0903	7.8682	0.29549	0.0879:0.1614:0.7508:0.0	.	232	Q96GS4	CQ059_HUMAN	A	232	.	ENSP00000373669:P232A	P	-	1	0	C17orf59	8033490	0.960000	0.32886	0.007000	0.13788	0.881000	0.50899	3.266000	0.51569	0.640000	0.30582	0.561000	0.74099	CCA		0.682	C17orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333072.1		NM_017622		6	2	0	0	0	1	0	6	2		
RAI1	10743	broad.mit.edu	37	17	17701534	17701534	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:17701534G>A	ENST00000353383.1	+	3	5741	c.5272G>A	c.(5272-5274)Gac>Aac	p.D1758N	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1758					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCCCAGGCCTGACGGCCCAGC	0.697																																						uc002grm.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(5272-5274)GAC>AAC		retinoic acid induced 1							12.0	15.0	14.0					17																	17701534		2200	4291	6491	SO:0001583	missense	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17701534G>A	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.5272G>A	17.37:g.17701534G>A	ENSP00000323074:p.Asp1758Asn					RAI1_uc002grn.1_Missense_Mutation_p.D1758N	p.D1758N	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	5741	+			1758					Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.5272G>A	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903421	0.52333	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000315321	T	0.67865	-0.29	4.56	4.56	0.56223	.	0.241006	0.34879	N	0.003615	T	0.58878	0.2153	L	0.40543	1.245	0.80722	D	1	B	0.27559	0.181	B	0.29440	0.102	T	0.55140	-0.8187	10	0.19147	T	0.46	.	17.5171	0.87777	0.0:0.0:1.0:0.0	.	1758	Q7Z5J4	RAI1_HUMAN	N	1758;1758;1646	ENSP00000323074:D1758N	ENSP00000322928:D1646N	D	+	1	0	RAI1	17642259	0.915000	0.31059	0.554000	0.28268	0.630000	0.37929	3.444000	0.52914	2.387000	0.81309	0.561000	0.74099	GAC		0.697	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1		NM_030665		9	0	0	0	0	1	0	9	0		
TOP3A	7156	broad.mit.edu	37	17	18188594	18188594	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:18188594G>C	ENST00000321105.5	-	15	1953	c.1739C>G	c.(1738-1740)tCt>tGt	p.S580C	TOP3A_ENST00000542570.1_Missense_Mutation_p.S485C|TOP3A_ENST00000540524.1_Missense_Mutation_p.S110C	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	580					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GTCAGGCTTAGACATTTCATA	0.522																																						uc002gsx.1		NaN																	0				skin(3)	3						c.(1738-1740)TCT>TGT		topoisomerase (DNA) III alpha							107.0	98.0	101.0					17																	18188594		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18188594G>C	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1739C>G	17.37:g.18188594G>C	ENSP00000321636:p.Ser580Cys					TOP3A_uc010cpz.1_Missense_Mutation_p.S32C|TOP3A_uc010vxr.1_Missense_Mutation_p.S110C|TOP3A_uc002gsw.1_Missense_Mutation_p.S32C|TOP3A_uc010vxs.1_Missense_Mutation_p.S478C	p.S580C	NM_004618	NP_004609	Q13472	TOP3A_HUMAN			15	1968	-			580					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.1739C>G	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907515	0.52333	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.21932	1.98;1.98;1.98	5.4	5.4	0.78164	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, central region, subdomain 1 (1);	0.000000	0.85682	D	0.000000	T	0.47340	0.1440	M	0.66506	2.035	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.98	T	0.39961	-0.9588	10	0.54805	T	0.06	-30.966	19.1668	0.93561	0.0:0.0:1.0:0.0	.	485;580	B4DK80;Q13472	.;TOP3A_HUMAN	C	580;110;485	ENSP00000321636:S580C;ENSP00000446425:S110C;ENSP00000442336:S485C	ENSP00000321636:S580C	S	-	2	0	TOP3A	18129319	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	9.755000	0.98912	2.520000	0.84964	0.603000	0.83216	TCT		0.522	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2				42	8	0	0	0	1	0	42	8		
EFCAB5	374786	broad.mit.edu	37	17	28296332	28296332	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:28296332G>A	ENST00000394835.3	+	4	906	c.714G>A	c.(712-714)atG>atA	p.M238I	EFCAB5_ENST00000378738.3_Missense_Mutation_p.M238I|EFCAB5_ENST00000320856.5_Missense_Mutation_p.M238I|EFCAB5_ENST00000536908.2_Missense_Mutation_p.M182I|EFCAB5_ENST00000394832.2_Missense_Mutation_p.M238I|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000534836.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	238							calcium ion binding (GO:0005509)	p.M238I(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGAGGTTGATGAAAGAAGTCA	0.358																																						uc002het.2		NaN																	1	Substitution - Missense(1)		breast(1)	ovary(1)|skin(1)	2						c.(712-714)ATG>ATA		EF-hand calcium binding domain 5 isoform a							30.0	30.0	30.0					17																	28296332		1843	4083	5926	SO:0001583	missense	374786						calcium ion binding	g.chr17:28296332G>A	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.714G>A	17.37:g.28296332G>A	ENSP00000378312:p.Met238Ile					EFCAB5_uc010wbi.1_Intron|EFCAB5_uc010wbj.1_Missense_Mutation_p.M182I|EFCAB5_uc010wbk.1_Intron|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.M117I|EFCAB5_uc010csf.2_Missense_Mutation_p.M117I	p.M238I	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			4	906	+			238					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.714G>A	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940139	0.73557	.	.	ENSG00000176927	ENST00000536908;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T	0.29655	1.61;2.63;2.61;1.9;1.56;2.76	5.32	5.32	0.75619	.	0.093937	0.46145	D	0.000304	T	0.45856	0.1363	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.63880	0.993;0.986;0.986;0.986	P;P;P;P	0.61275	0.886;0.886;0.886;0.886	T	0.36504	-0.9745	10	0.62326	D	0.03	-22.1075	11.7941	0.52088	0.0801:0.0:0.9199:0.0	.	182;238;238;238	F5GYL2;B5MEA3;E7EVS9;A4FU69	.;.;.;EFCB5_HUMAN	I	182;238;238;238;238;182;44	ENSP00000440619:M182I;ENSP00000378312:M238I;ENSP00000322003:M238I;ENSP00000378309:M238I;ENSP00000368012:M238I;ENSP00000417009:M44I	ENSP00000322003:M238I	M	+	3	0	EFCAB5	25320458	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	4.952000	0.63618	2.644000	0.89710	0.561000	0.74099	ATG		0.358	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4		NM_198529		44	3	0	0	0	1	0	44	3		
NF1	4763	broad.mit.edu	37	17	29554250	29554250	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:29554250C>T	ENST00000358273.4	+	19	2649	c.2266C>T	c.(2266-2268)Cag>Tag	p.Q756*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q756*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	756					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.Q756*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGCAGCACTTCAGAAAAGAGT	0.517			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2		NaN	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(4)|Substitution - Nonsense(1)	p.?(2)|p.Q756*(1)	soft_tissue(8)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(2266-2268)CAG>TAG		neurofibromin isoform 1							75.0	74.0	74.0					17																	29554250		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29554250C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2266C>T	17.37:g.29554250C>T	ENSP00000351015:p.Gln756*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Nonsense_Mutation_p.Q756*|NF1_uc010csn.1_Nonsense_Mutation_p.Q616*|NF1_uc002hgi.1_5'UTR	p.Q756*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	19	2599	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	756					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.2266C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	38	6.871122	0.97901	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.2002	0.93708	0.0:1.0:0.0:0.0	.	.	.	.	X	756;756;422	.	ENSP00000348498:Q756X	Q	+	1	0	NF1	26578376	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.379000	0.79691	2.611000	0.88343	0.650000	0.86243	CAG		0.517	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2		NM_000267		172	18	0	0	0	1	0	172	18		
SUZ12	23512	broad.mit.edu	37	17	30323823	30323823	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:30323823G>C	ENST00000322652.5	+	15	2030	c.1801G>C	c.(1801-1803)Gaa>Caa	p.E601Q	SUZ12_ENST00000580398.1_Missense_Mutation_p.E578Q	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	601	VEFS-box.				histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CCAGCAAATTGAAGAGTTTTC	0.299			T	JAZF1	endometrial stromal tumours																																	uc002hgs.2		NaN		Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	JAZF1/SUZ12(131)	0				soft_tissue(98)|endometrium(33)	131						c.(1801-1803)GAA>CAA		joined to JAZF1							39.0	41.0	40.0					17																	30323823		2202	4290	6492	SO:0001583	missense	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30323823G>C	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.1801G>C	17.37:g.30323823G>C	ENSP00000316578:p.Glu601Gln					SUZ12_uc002hgt.2_Missense_Mutation_p.E578Q	p.E601Q	NM_015355	NP_056170	Q15022	SUZ12_HUMAN			15	2023	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	601			VEFS-box.		Q96BD9	Missense_Mutation	SNP	ENST00000322652.5	37	c.1801G>C	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	g	14.08	2.429261	0.43122	.	.	ENSG00000178691	ENST00000322652	T	0.50277	0.75	5.53	4.55	0.56014	Polycomb protein, VEFS-Box (1);	0.094139	0.64402	N	0.000001	T	0.40347	0.1113	L	0.34521	1.04	0.52501	D	0.999951	B;B	0.24768	0.111;0.013	B;B	0.23275	0.045;0.029	T	0.27502	-1.0072	10	0.56958	D	0.05	-8.3004	16.523	0.84322	0.0:0.1309:0.8691:0.0	.	601;601	A8K1U9;Q15022	.;SUZ12_HUMAN	Q	601	ENSP00000316578:E601Q	ENSP00000316578:E601Q	E	+	1	0	SUZ12	27347936	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.582000	0.98214	1.318000	0.45170	0.558000	0.71614	GAA		0.299	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2		NM_015355		7	62	0	0	0	1	0	7	62		
GPR179	440435	broad.mit.edu	37	17	36485624	36485624	+	Silent	SNP	C	C	T	rs192091633		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:36485624C>T	ENST00000342292.4	-	11	3848	c.3828G>A	c.(3826-3828)tcG>tcA	p.S1276S	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1276					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTAGTGCCCTCGACTCTGGGG	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16876	0.0		0.0	False		,,,				2504	0.0					uc002hpz.2		NaN																	0				ovary(3)	3						c.(3826-3828)TCG>TCA		GPR158-like 1 precursor							52.0	53.0	53.0					17																	36485624		1928	4129	6057	SO:0001819	synonymous_variant	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36485624C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3828G>A	17.37:g.36485624C>T							p.S1276S	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	3849	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1276			Cytoplasmic (Potential).			Silent	SNP	ENST00000342292.4	37	c.3828G>A	CCDS42308.1																																																																																				0.562	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2				80	2	0	0	0	1	0	80	2		
GPR179	440435	broad.mit.edu	37	17	36486316	36486316	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:36486316C>T	ENST00000342292.4	-	11	3156	c.3136G>A	c.(3136-3138)Gag>Aag	p.E1046K	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1046					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCGTCCATCTCATTCTCCCCA	0.597																																						uc002hpz.2		NaN																	0				ovary(3)	3						c.(3136-3138)GAG>AAG		GPR158-like 1 precursor							69.0	70.0	70.0					17																	36486316		2052	4200	6252	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36486316C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3136G>A	17.37:g.36486316C>T	ENSP00000345060:p.Glu1046Lys						p.E1046K	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	3157	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1046			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342292.4	37	c.3136G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	9.891	1.204111	0.22205	.	.	ENSG00000188888	ENST00000342292	T	0.57595	0.39	5.38	4.41	0.53225	.	0.816615	0.10871	N	0.624896	T	0.37972	0.1023	N	0.19112	0.55	0.09310	N	1	B	0.22346	0.068	B	0.15870	0.014	T	0.19778	-1.0295	10	0.34782	T	0.22	-0.0408	11.1334	0.48360	0.0:0.9143:0.0:0.0857	.	1046	Q6PRD1	GP179_HUMAN	K	1046	ENSP00000345060:E1046K	ENSP00000345060:E1046K	E	-	1	0	GPR179	33739842	0.039000	0.19947	0.022000	0.16811	0.191000	0.23601	1.605000	0.36815	1.502000	0.48669	0.462000	0.41574	GAG		0.597	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2				87	7	0	0	0	1	0	87	7		
GPR179	440435	broad.mit.edu	37	17	36486596	36486596	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:36486596C>T	ENST00000342292.4	-	11	2876	c.2856G>A	c.(2854-2856)agG>agA	p.R952R	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	952					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAGATAGCATCCTTGGCTCTC	0.627																																						uc002hpz.2		NaN																	0				ovary(3)	3						c.(2854-2856)AGG>AGA		GPR158-like 1 precursor							21.0	22.0	22.0					17																	36486596		2013	4179	6192	SO:0001819	synonymous_variant	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36486596C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.2856G>A	17.37:g.36486596C>T							p.R952R	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	2877	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	952			Cytoplasmic (Potential).			Silent	SNP	ENST00000342292.4	37	c.2856G>A	CCDS42308.1																																																																																				0.627	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2				19	2	0	0	0	1	0	19	2		
GPR179	440435	broad.mit.edu	37	17	36487082	36487082	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:36487082C>T	ENST00000342292.4	-	11	2390	c.2370G>A	c.(2368-2370)ctG>ctA	p.L790L	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	790					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCTTCCTCCTCAGCAGTGAGT	0.657																																						uc002hpz.2		NaN																	0				ovary(3)	3						c.(2368-2370)CTG>CTA		GPR158-like 1 precursor							9.0	11.0	10.0					17																	36487082		1990	4155	6145	SO:0001819	synonymous_variant	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36487082C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.2370G>A	17.37:g.36487082C>T							p.L790L	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	2391	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	790			Cytoplasmic (Potential).			Silent	SNP	ENST00000342292.4	37	c.2370G>A	CCDS42308.1																																																																																				0.657	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2				17	2	0	0	0	1	0	17	2		
KRTAP4-12	83755	broad.mit.edu	37	17	39279805	39279805	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:39279805G>A	ENST00000394014.1	-	1	614	c.570C>T	c.(568-570)tgC>tgT	p.C190C		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	190						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGGGGCGGGGGCAGGTGGAGA	0.577																																						uc002hwa.2		NaN																	0					0						c.(568-570)TGC>TGT		keratin associated protein 4-12							61.0	51.0	55.0					17																	39279805		2201	4296	6497	SO:0001819	synonymous_variant	83755					keratin filament		g.chr17:39279805G>A	AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"""Keratin associated proteins"""	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.570C>T	17.37:g.39279805G>A							p.C190C	NM_031854	NP_114060	Q9BQ66	KR412_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	615	-		Breast(137;0.000496)	190					A3KMC5|Q495I0	Silent	SNP	ENST00000394014.1	37	c.570C>T	CCDS32649.1																																																																																				0.577	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1				3	36	0	0	0	1	0	3	36		
BRCA1	672	broad.mit.edu	37	17	41245834	41245834	+	Missense_Mutation	SNP	C	C	T	rs80359886|rs80357640		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:41245834C>T	ENST00000357654.3	-	10	1832	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K	BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.E525K|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.E572K|BRCA1_ENST00000309486.4_Missense_Mutation_p.E276K|BRCA1_ENST00000346315.3_Missense_Mutation_p.E572K|BRCA1_ENST00000354071.3_Missense_Mutation_p.E572K|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000491747.2_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	572					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)		TCGAGTGATTCTATTGGGTTA	0.338			"""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.(1714-1716)GAA>AAA	Homologous_recombination	breast cancer 1, early onset isoform 1							80.0	76.0	77.0					17																	41245834		2202	4298	6500	SO:0001583	missense	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.chr17:41245834C>T	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.1714G>A	17.37:g.41245834C>T	ENSP00000350283:p.Glu572Lys	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.E501K|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.E525K|BRCA1_uc002ict.2_Missense_Mutation_p.E572K|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.E572K|BRCA1_uc002ide.1_Missense_Mutation_p.E403K|BRCA1_uc010cyy.1_Missense_Mutation_p.E572K|BRCA1_uc010whs.1_Missense_Mutation_p.E572K|BRCA1_uc010cyz.2_Missense_Mutation_p.E525K|BRCA1_uc010cza.2_Missense_Mutation_p.E546K|BRCA1_uc010wht.1_Missense_Mutation_p.E276K	p.E572K	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	1946	-		Breast(137;0.000717)	572					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.1714G>A	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511587	0.27036	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152	D;D;D;D;D;D;D;D	0.97089	-2.31;-2.43;-2.41;-2.21;-2.32;-2.45;-2.84;-4.24	5.07	4.08	0.47627	.	0.238449	0.30142	N	0.010308	D	0.97393	0.9147	M	0.89414	3.03	0.22142	N	0.99933	D;D;B;P;P;B	0.53312	0.959;0.959;0.413;0.87;0.948;0.267	P;P;B;B;P;B	0.51016	0.556;0.556;0.216;0.42;0.656;0.388	D	0.93649	0.6971	10	0.66056	D	0.02	-12.1293	8.3949	0.32550	0.0:0.7613:0.157:0.0817	.	572;531;572;572;572;572	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	K	572;572;572;572;276;572;525;572;546	ENSP00000350283:E572K;ENSP00000326002:E572K;ENSP00000246907:E572K;ENSP00000310938:E276K;ENSP00000418960:E572K;ENSP00000418775:E525K;ENSP00000419274:E572K;ENSP00000419988:E546K	ENSP00000310938:E276K	E	-	1	0	BRCA1	38499360	0.406000	0.25344	0.823000	0.32752	0.124000	0.20399	0.552000	0.23376	1.326000	0.45319	0.462000	0.41574	GAA		0.338	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2		NM_007294		90	4	0	0	0	1	0	90	4		
TEX14	56155	broad.mit.edu	37	17	56646611	56646611	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:56646611G>C	ENST00000240361.8	-	27	4051	c.3966C>G	c.(3964-3966)ttC>ttG	p.F1322L	TEX14_ENST00000349033.5_Missense_Mutation_p.F1276L|TEX14_ENST00000389934.3_Missense_Mutation_p.F1316L			Q8IWB6	TEX14_HUMAN	testis expressed 14	1322					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GATGCTGTGAGAAGGCTTCTA	0.418																																						uc010dcz.1		NaN																	0				stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.(3964-3966)TTC>TTG		testis expressed sequence 14 isoform a							134.0	114.0	121.0					17																	56646611		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56646611G>C	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.3966C>G	17.37:g.56646611G>C	ENSP00000240361:p.Phe1322Leu					TEX14_uc002iwr.1_Missense_Mutation_p.F1316L|TEX14_uc002iws.1_Missense_Mutation_p.F1276L|TEX14_uc010dda.1_Missense_Mutation_p.F1056L	p.F1322L	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			27	4084	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1322					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.3966C>G	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647683	0.47258	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.77489	-1.1;-1.1;-1.07	5.57	1.11	0.20524	.	0.583607	0.17544	N	0.170425	T	0.52008	0.1708	N	0.08118	0	0.23735	N	0.996986	B;B;B	0.11235	0.003;0.004;0.004	B;B;B	0.12837	0.003;0.008;0.008	T	0.33189	-0.9878	10	0.16420	T	0.52	-4.3193	6.4868	0.22093	0.4244:0.0:0.5756:0.0	.	1322;1276;1316	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	L	1322;1316;1276	ENSP00000240361:F1322L;ENSP00000374584:F1316L;ENSP00000268910:F1276L	ENSP00000240361:F1322L	F	-	3	2	TEX14	54001610	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	1.143000	0.31553	0.428000	0.26173	0.650000	0.86243	TTC		0.418	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1				65	13	0	0	0	1	0	65	13		
HELZ	9931	broad.mit.edu	37	17	65141996	65141996	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:65141996C>G	ENST00000358691.5	-	21	2798	c.2632G>C	c.(2632-2634)Gag>Cag	p.E878Q	HELZ_ENST00000580168.1_Missense_Mutation_p.E879Q	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	878						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TAGAAAAGCTCAGAGGTATAA	0.373																																						uc010wqk.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(2635-2637)GAG>CAG		helicase with zinc finger domain							55.0	52.0	53.0					17																	65141996		1823	4085	5908	SO:0001583	missense	9931							g.chr17:65141996C>G	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2632G>C	17.37:g.65141996C>G	ENSP00000351524:p.Glu878Gln					HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.E878Q	p.E879Q	NM_014877	NP_055692					21	2822	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.2635G>C	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994843	0.54041	.	.	ENSG00000198265	ENST00000358691	D	0.92752	-3.1	5.99	5.99	0.97316	.	0.044710	0.85682	D	0.000000	D	0.94358	0.8186	L	0.43701	1.375	0.80722	D	1	D;P	0.61080	0.989;0.858	D;P	0.63488	0.915;0.616	D	0.93908	0.7194	10	0.56958	D	0.05	-19.7377	20.4777	0.99188	0.0:1.0:0.0:0.0	.	879;878	B7ZLW2;P42694	.;HELZ_HUMAN	Q	878	ENSP00000351524:E878Q	ENSP00000351524:E878Q	E	-	1	0	HELZ	62572458	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.487000	0.81328	2.840000	0.97914	0.655000	0.94253	GAG		0.373	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1		NM_014877		20	35	0	0	0	1	0	20	35		
COG1	9382	broad.mit.edu	37	17	71197805	71197805	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:71197805C>G	ENST00000299886.4	+	7	1919	c.1839C>G	c.(1837-1839)ttC>ttG	p.F613L		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	613					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CAGTTCTTTTCATGGCCAGAC	0.547																																						uc002jjg.2		NaN																	0				ovary(1)	1						c.(1837-1839)TTC>TTG		component of oligomeric golgi complex 1							75.0	66.0	69.0					17																	71197805		2203	4300	6503	SO:0001583	missense	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71197805C>G		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.1839C>G	17.37:g.71197805C>G	ENSP00000299886:p.Phe613Leu					COG1_uc002jjh.2_Missense_Mutation_p.F613L|COG1_uc002jjf.1_Missense_Mutation_p.F613L	p.F613L	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		7	1875	+			613					Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.1839C>G	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399779	0.42512	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.23950	1.88;1.91	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	M	0.71581	2.175	0.80722	D	1	D;D;D	0.54397	0.966;0.966;0.966	P;P;P	0.48815	0.57;0.591;0.57	T	0.08722	-1.0708	10	0.21540	T	0.41	-33.9912	14.2591	0.66073	0.0:0.9267:0.0:0.0733	.	613;613;613	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	L	613	ENSP00000400111:F613L;ENSP00000299886:F613L	ENSP00000299886:F613L	F	+	3	2	COG1	68709400	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.687000	0.54692	2.489000	0.83994	0.655000	0.94253	TTC		0.547	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1				57	6	0	0	0	1	0	57	6		
MIF4GD	57409	broad.mit.edu	37	17	73262901	73262901	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:73262901C>G	ENST00000325102.8	-	6	713	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	MIF4GD_ENST00000579297.1_Missense_Mutation_p.E238Q|MIF4GD_ENST00000580571.1_Missense_Mutation_p.E145Q|MIF4GD_ENST00000245551.5_Missense_Mutation_p.E231Q|MIF4GD_ENST00000578305.1_3'UTR|MIF4GD_ENST00000577542.1_Missense_Mutation_p.E238Q|MIF4GD_ENST00000579119.1_Missense_Mutation_p.E226Q	NM_001242501.1	NP_001229430.1	A9UHW6	MI4GD_HUMAN	MIF4G domain containing	197	MIF4G.				regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			TCAATGATCTCCAGCAGCAGC	0.592																																						uc002jnr.2		NaN																	0				ovary(1)	1						c.(589-591)GAG>CAG		RecName: Full=MIF4G domain-containing protein; AltName: Full=SLBP-interacting protein 1;          Short=hSLIP1;							72.0	66.0	68.0					17																	73262901		2203	4300	6503	SO:0001583	missense	57409				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding	g.chr17:73262901C>G	CR605810	CCDS11719.1, CCDS56044.1, CCDS58598.1	17q25.1	2005-12-15		2005-12-15					24030	protein-coding gene	gene with protein product		612072		MIFD			Standard	NM_001242498		Approved	AD023, MGC45027	uc002jnq.3	A9UHW6		ENST00000325102.8:c.589G>C	17.37:g.73262901C>G	ENSP00000321625:p.Glu197Gln					MIF4GD_uc002jno.2_Missense_Mutation_p.E238Q|MIF4GD_uc002jnp.2_Missense_Mutation_p.E231Q|MIF4GD_uc002jnq.2_Missense_Mutation_p.E238Q	p.E197Q			A9UHW6	MI4GD_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		6	718	-	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		197			MIF4G.		B4DUM7|Q8N4Q5|Q9HBL5	Missense_Mutation	SNP	ENST00000325102.8	37	c.589G>C	CCDS56044.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150804	0.57151	.	.	ENSG00000125457	ENST00000245551;ENST00000325102	T;T	0.23147	1.92;1.92	5.37	5.37	0.77165	MIF4G-like, type 3 (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	.	.	.	.	T	0.48978	0.1530	L	0.57536	1.79	0.80722	D	1	D;D;P	0.89917	1.0;0.957;0.924	D;P;P	0.91635	0.999;0.845;0.807	T	0.28839	-1.0031	9	0.33940	T	0.23	-12.1647	19.1088	0.93309	0.0:1.0:0.0:0.0	.	197;231;238	A9UHW6;A9UHW6-2;B4DUM7	MI4GD_HUMAN;.;.	Q	231;197	ENSP00000245551:E231Q;ENSP00000321625:E197Q	ENSP00000245551:E231Q	E	-	1	0	MIF4GD	70774496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.447000	0.80620	2.510000	0.84645	0.650000	0.86243	GAG		0.592	MIF4GD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446671.1		NM_020679		106	7	0	0	0	1	0	106	7		
ACOX1	51	broad.mit.edu	37	17	73949633	73949633	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:73949633G>C	ENST00000301608.4	-	7	903	c.843C>G	c.(841-843)gtC>gtG	p.V281V	ACOX1_ENST00000293217.5_Silent_p.V281V|ACOX1_ENST00000591857.1_5'Flank|ACOX1_ENST00000537812.1_Silent_p.V243V	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	281					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	GGAAGGACCTGACAAACACCA	0.527																																						uc002jqf.2		NaN																	0				ovary(1)	1						c.(841-843)GTC>GTG		acyl-Coenzyme A oxidase 1 isoform b							157.0	122.0	134.0					17																	73949633		2203	4300	6503	SO:0001819	synonymous_variant	51				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding	g.chr17:73949633G>C	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.843C>G	17.37:g.73949633G>C						ACOX1_uc010wsq.1_Silent_p.V243V|ACOX1_uc002jqe.2_Silent_p.V281V|ACOX1_uc010wsr.1_Silent_p.V213V	p.V281V	NM_007292	NP_009223	Q15067	ACOX1_HUMAN			7	1133	-			281					A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Silent	SNP	ENST00000301608.4	37	c.843C>G	CCDS11735.1																																																																																				0.527	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1				94	14	0	0	0	1	0	94	14		
SRP68	6730	broad.mit.edu	37	17	74057619	74057619	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:74057619C>G	ENST00000307877.2	-	5	759	c.598G>C	c.(598-600)Gaa>Caa	p.E200Q	SRP68_ENST00000355113.5_Missense_Mutation_p.E99Q|SRP68_ENST00000539137.1_Missense_Mutation_p.E162Q	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	200					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)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.E200*(1)		NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TCTTGATGTTCAAAACGTAGC	0.433																																						uc002jqk.1		NaN																	1	Substitution - Nonsense(1)		prostate(1)	ovary(1)	1						c.(598-600)GAA>CAA		signal recognition particle 68kDa							116.0	103.0	108.0					17																	74057619		2203	4300	6503	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74057619C>G	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.598G>C	17.37:g.74057619C>G	ENSP00000312066:p.Glu200Gln					SRP68_uc010wsu.1_Missense_Mutation_p.E99Q|SRP68_uc002jql.1_Missense_Mutation_p.E162Q	p.E200Q	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN			5	633	-			200					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.598G>C	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072010	0.93950	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220;ENST00000355113	T;T;T	0.29397	1.57;1.57;1.57	5.66	5.66	0.87406	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.64057	0.2564	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.69018	-0.5256	10	0.66056	D	0.02	-27.1662	18.3055	0.90179	0.0:1.0:0.0:0.0	.	162;200	G3V1U4;Q9UHB9	.;SRP68_HUMAN	Q	162;200;200;200;99	ENSP00000446136:E162Q;ENSP00000312066:E200Q;ENSP00000347233:E99Q	ENSP00000307756:E200Q	E	-	1	0	SRP68	71569214	1.000000	0.71417	0.987000	0.45799	0.946000	0.59487	7.092000	0.76930	2.832000	0.97577	0.655000	0.94253	GAA		0.433	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1		NM_014230		76	8	0	0	0	1	0	76	8		
MGAT5B	146664	broad.mit.edu	37	17	74900408	74900408	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:74900408C>T	ENST00000569840.2	+	6	1168	c.594C>T	c.(592-594)ctC>ctT	p.L198L	MGAT5B_ENST00000428789.2_Silent_p.L209L|MGAT5B_ENST00000301618.4_Silent_p.L198L|MGAT5B_ENST00000374998.3_3'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	198					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTCCTTCCTCATCTACCTCA	0.667																																						uc002jti.2		NaN																	0				ovary(2)|skin(1)	3						c.(625-627)CTC>CTT		N-acetylglucosaminyltranferase VB isoform 2							52.0	39.0	43.0					17																	74900408		2203	4300	6503	SO:0001819	synonymous_variant	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74900408C>T	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.594C>T	17.37:g.74900408C>T						MGAT5B_uc002jth.2_Silent_p.L198L	p.L209L	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN			5	730	+			198			Lumenal (Potential).		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Silent	SNP	ENST00000569840.2	37	c.627C>T	CCDS59299.1																																																																																				0.667	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2		NM_144677		19	1	0	0	0	1	0	19	1		
SYNGR2	9144	broad.mit.edu	37	17	76167833	76167833	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:76167833C>T	ENST00000225777.3	+	4	550	c.491C>T	c.(490-492)tCc>tTc	p.S164F	SYNGR2_ENST00000588282.1_Missense_Mutation_p.P194S|SYNGR2_ENST00000589711.1_3'UTR|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000585591.1_Missense_Mutation_p.S164F|SYNGR2_ENST00000590201.1_Missense_Mutation_p.S108F			O43760	SNG2_HUMAN	synaptogyrin 2	164	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				protein targeting (GO:0006605)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			GTGCTGGCCTCCCTGGCCTAC	0.652																																						uc002juu.1		NaN																	0					0						c.(490-492)TCC>TTC		synaptogyrin 2							72.0	67.0	69.0					17																	76167833		2203	4300	6503	SO:0001583	missense	9144					integral to plasma membrane		g.chr17:76167833C>T	AJ002308	CCDS11753.1	17q25.3	2014-09-11			ENSG00000108639	ENSG00000108639			11499	protein-coding gene	gene with protein product	"""cellugyrin"""	603926				9760194	Standard	NM_004710		Approved		uc002juu.1	O43760	OTTHUMG00000177457	ENST00000225777.3:c.491C>T	17.37:g.76167833C>T	ENSP00000225777:p.Ser164Phe					SYNGR2_uc002jut.2_Missense_Mutation_p.P194S|SYNGR2_uc002juv.1_Silent_p.L117L|SYNGR2_uc010dhi.1_RNA	p.S164F	NM_004710	NP_004701	O43760	SNG2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)		4	518	+			164			MARVEL.|Helical; (Potential).		O43762|Q3KQZ2|Q658S7	Missense_Mutation	SNP	ENST00000225777.3	37	c.491C>T	CCDS11753.1	.	.	.	.	.	.	.	.	.	.	C	0.749	-0.773663	0.02951	.	.	ENSG00000108639	ENST00000225777	T	0.60424	0.19	4.59	-3.28	0.05033	Marvel (1);	0.847975	0.10659	N	0.648905	T	0.20700	0.0498	N	0.03154	-0.405	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.23154	-1.0196	10	0.07030	T	0.85	-18.3854	0.656	0.00834	0.2474:0.3399:0.1208:0.2919	.	164	O43760	SNG2_HUMAN	F	164	ENSP00000225777:S164F	ENSP00000225777:S164F	S	+	2	0	SYNGR2	73679428	0.000000	0.05858	0.958000	0.39756	0.681000	0.39784	-0.760000	0.04756	-0.520000	0.06435	-0.448000	0.05591	TCC		0.652	SYNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437009.2				94	15	0	0	0	1	0	94	15		
LPIN2	9663	broad.mit.edu	37	18	2937747	2937747	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:2937747C>G	ENST00000261596.4	-	7	1349	c.1111G>C	c.(1111-1113)Gag>Cag	p.E371Q		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	371					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GAGGGCGCCTCCGCTAAGGCT	0.483																																						uc002klo.2		NaN																	0				ovary(1)|skin(1)	2						c.(1111-1113)GAG>CAG		lipin 2							72.0	72.0	72.0					18																	2937747		2203	4300	6503	SO:0001583	missense	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2937747C>G	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1111G>C	18.37:g.2937747C>G	ENSP00000261596:p.Glu371Gln						p.E371Q	NM_014646	NP_055461	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	7	1350	-			371					A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.1111G>C	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.524126	0.27299	.	.	ENSG00000101577	ENST00000261596	T	0.80653	-1.4	5.74	3.87	0.44632	.	1.306910	0.04518	N	0.384081	T	0.76321	0.3971	L	0.40543	1.245	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.55528	-0.8127	10	0.15499	T	0.54	.	14.8295	0.70137	0.0:0.7281:0.2719:0.0	.	371	Q92539	LPIN2_HUMAN	Q	371	ENSP00000261596:E371Q	ENSP00000261596:E371Q	E	-	1	0	LPIN2	2927747	0.982000	0.34865	0.097000	0.21041	0.021000	0.10359	2.792000	0.47837	1.399000	0.46721	0.655000	0.94253	GAG		0.483	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2		NM_014646		45	74	0	0	0	1	0	45	74		
LAMA1	284217	broad.mit.edu	37	18	6961983	6961983	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:6961983G>C	ENST00000389658.3	-	52	7506	c.7413C>G	c.(7411-7413)ctC>ctG	p.L2471L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2471	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AGGAATTTCTGAGTAAGTCAA	0.403																																						uc002knm.2		NaN																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(7411-7413)CTC>CTG		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						134.0	135.0	135.0					18																	6961983		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6961983G>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7413C>G	18.37:g.6961983G>C						LAMA1_uc002knl.2_5'UTR|LAMA1_uc010wzj.1_Silent_p.L1947L	p.L2471L	NM_005559	NP_005550	P25391	LAMA1_HUMAN			52	7507	-		Colorectal(10;0.172)	2471			Laminin G-like 2.			Silent	SNP	ENST00000389658.3	37	c.7413C>G	CCDS32787.1																																																																																				0.403	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1		NM_005559		83	103	0	0	0	1	0	83	103		
PTPRM	5797	broad.mit.edu	37	18	8244134	8244134	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:8244134G>C	ENST00000332175.8	+	15	3416	c.2379G>C	c.(2377-2379)aaG>aaC	p.K793N	PTPRM_ENST00000400060.4_Missense_Mutation_p.K793N|PTPRM_ENST00000400053.4_Missense_Mutation_p.K731N|PTPRM_ENST00000580170.1_Missense_Mutation_p.K793N|PTPRM_ENST00000444013.1_Missense_Mutation_p.K580N	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	793					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CAATGGACAAGAGCTATGCTG	0.463																																						uc002knn.3		NaN																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(2377-2379)AAG>AAC		protein tyrosine phosphatase, receptor type, M							154.0	142.0	146.0					18																	8244134		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8244134G>C	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2379G>C	18.37:g.8244134G>C	ENSP00000331418:p.Lys793Asn					PTPRM_uc010dkv.2_Missense_Mutation_p.K793N|PTPRM_uc010wzl.1_Missense_Mutation_p.K580N	p.K793N	NM_002845	NP_002836	P28827	PTPRM_HUMAN			15	2882	+		Colorectal(10;0.234)	793			Cytoplasmic (Potential).		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.2379G>C	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015827	0.54468	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.49720	1.07;1.09;0.89;0.77	5.82	3.05	0.35203	.	0.104158	0.64402	D	0.000004	T	0.45458	0.1343	M	0.66939	2.045	0.53688	D	0.999977	B;P;P	0.52316	0.133;0.906;0.952	B;P;P	0.46585	0.063;0.521;0.521	T	0.38542	-0.9656	10	0.33940	T	0.23	.	6.1143	0.20117	0.4097:0.0:0.5903:0.0	.	580;793;793	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	N	793;793;731;580	ENSP00000331418:K793N;ENSP00000382933:K793N;ENSP00000382927:K731N;ENSP00000387608:K580N	ENSP00000331418:K793N	K	+	3	2	PTPRM	8234134	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.872000	0.39549	1.465000	0.48006	0.557000	0.71058	AAG		0.463	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1				74	90	0	0	0	1	0	74	90		
NPC1	4864	broad.mit.edu	37	18	21120457	21120457	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:21120457C>G	ENST00000269228.5	-	17	3113	c.2559G>C	c.(2557-2559)ctG>ctC	p.L853L	NPC1_ENST00000412552.2_Silent_p.L535L|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	853					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTACTTTGTTCAGGACTGCGA	0.358																																						uc002kum.3		NaN																	0				ovary(2)	2						c.(2557-2559)CTG>CTC		Niemann-Pick disease, type C1 precursor							97.0	88.0	91.0					18																	21120457		2203	4300	6503	SO:0001819	synonymous_variant	4864				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	g.chr18:21120457C>G	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2559G>C	18.37:g.21120457C>G						NPC1_uc010xaz.1_Silent_p.L586L|NPC1_uc010xba.1_Silent_p.L698L	p.L853L	NM_000271	NP_000262	O15118	NPC1_HUMAN			17	2833	-	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)		853			Helical; (Potential).		B4DET3|Q9P130	Silent	SNP	ENST00000269228.5	37	c.2559G>C	CCDS11878.1																																																																																				0.358	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2		NM_000271		22	51	0	0	0	1	0	22	51		
OSBPL1A	114876	broad.mit.edu	37	18	21914240	21914240	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:21914240C>T	ENST00000319481.3	-	6	655	c.449G>A	c.(448-450)aGa>aAa	p.R150K		NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	150	Interaction with RAB7A.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTGCCTTCTCTTGCTGCTGC	0.363																																						uc002kve.2		NaN																	0				ovary(4)	4						c.(448-450)AGA>AAA		oxysterol-binding protein-like 1A isoform B							135.0	122.0	127.0					18																	21914240		2203	4297	6500	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21914240C>T	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.449G>A	18.37:g.21914240C>T	ENSP00000320291:p.Arg150Lys						p.R150K	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN			6	623	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		150					B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.449G>A	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622536	0.87460	.	.	ENSG00000141447	ENST00000319481	T	0.52754	0.65	4.81	4.81	0.61882	Ankyrin repeat-containing domain (4);	0.119556	0.56097	D	0.000029	T	0.63861	0.2547	M	0.63843	1.955	0.80722	D	1	D	0.58268	0.982	D	0.67548	0.952	T	0.58612	-0.7606	10	0.20046	T	0.44	-24.7339	17.8184	0.88642	0.0:1.0:0.0:0.0	.	150	Q9BXW6	OSBL1_HUMAN	K	150	ENSP00000320291:R150K	ENSP00000320291:R150K	R	-	2	0	OSBPL1A	20168238	0.977000	0.34250	1.000000	0.80357	0.995000	0.86356	5.764000	0.68826	2.387000	0.81309	0.655000	0.94253	AGA		0.363	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1		NM_080597		30	51	0	0	0	1	0	30	51		
CHST9	83539	broad.mit.edu	37	18	24496276	24496276	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:24496276C>T	ENST00000284224.8	-	6	1556	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N	AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000580774.1_3'UTR|CHST9_ENST00000581714.1_Missense_Mutation_p.D427N|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	427					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TAATAAAAGTCATAGATTAAT	0.313																																						uc002kwd.2		NaN																	0				ovary(2)|skin(1)	3						c.(1279-1281)GAC>AAC		GalNAc-4-sulfotransferase 2							95.0	90.0	91.0					18																	24496276		1818	4072	5890	SO:0001583	missense	83539				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr18:24496276C>T	AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.1279G>A	18.37:g.24496276C>T	ENSP00000284224:p.Asp427Asn					C18orf16_uc002kwb.2_Intron|C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_Missense_Mutation_p.D342N|CHST9_uc002kwe.2_Missense_Mutation_p.D427N	p.D427N	NM_031422	NP_113610	Q7L1S5	CHST9_HUMAN			5	1477	-	all_lung(6;0.0145)|Ovarian(20;0.124)		427			Lumenal (Potential).		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	c.1279G>A	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924282	0.34002	.	.	ENSG00000154080	ENST00000284224	T	0.74209	-0.82	6.07	5.2	0.72013	.	0.148069	0.47455	N	0.000229	T	0.71082	0.3298	L	0.39147	1.195	0.80722	D	1	B	0.24533	0.105	B	0.37943	0.261	T	0.66929	-0.5799	10	0.33141	T	0.24	-13.793	12.7048	0.57054	0.0:0.8666:0.0:0.1334	.	427	Q7L1S5	CHST9_HUMAN	N	427	ENSP00000284224:D427N	ENSP00000284224:D427N	D	-	1	0	CHST9	22750274	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.081000	0.50120	1.550000	0.49438	0.655000	0.94253	GAC		0.313	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1		NM_031422		30	54	0	0	0	1	0	30	54		
CCDC178	374864	broad.mit.edu	37	18	30554571	30554571	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:30554571C>T	ENST00000383096.3	-	22	2645	c.2463G>A	c.(2461-2463)atG>atA	p.M821I	CCDC178_ENST00000403303.1_Missense_Mutation_p.M821I|CCDC178_ENST00000402325.1_Missense_Mutation_p.M771I|CCDC178_ENST00000300227.8_Missense_Mutation_p.M783I|CCDC178_ENST00000581852.1_Missense_Mutation_p.M26I|CCDC178_ENST00000579916.1_Missense_Mutation_p.M141I|CCDC178_ENST00000583930.1_Missense_Mutation_p.M845I|CCDC178_ENST00000579947.1_Missense_Mutation_p.M821I|CCDC178_ENST00000406524.2_Missense_Mutation_p.M845I			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	821																	TGGCCAGCCTCATCTGGCTGA	0.493																																						uc002kxn.2		NaN																	0				ovary(1)	1						c.(2461-2463)ATG>ATA		hypothetical protein LOC374864 isoform 1							67.0	61.0	63.0					18																	30554571		2203	4300	6503	SO:0001583	missense	374864							g.chr18:30554571C>T	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2463G>A	18.37:g.30554571C>T	ENSP00000372576:p.Met821Ile					C18orf34_uc010xbq.1_RNA|C18orf34_uc010dme.1_Missense_Mutation_p.M285I|C18orf34_uc010xbr.1_Missense_Mutation_p.M845I|C18orf34_uc010dmf.1_Missense_Mutation_p.M141I|C18orf34_uc002kxo.2_Missense_Mutation_p.M783I|C18orf34_uc002kxp.2_Missense_Mutation_p.M821I	p.M821I	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			21	2605	-			821					A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.2463G>A	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	6.031	0.374167	0.11409	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.14516	2.55;2.55;2.56;2.5;2.55	5.5	-0.734	0.11140	.	.	.	.	.	T	0.08447	0.0210	L	0.36672	1.1	0.18873	N	0.999983	B;B;B;B;B;B	0.21606	0.058;0.014;0.058;0.058;0.058;0.058	B;B;B;B;B;B	0.16289	0.015;0.008;0.015;0.015;0.009;0.009	T	0.36212	-0.9757	9	0.40728	T	0.16	-3.0837	1.2823	0.02043	0.2179:0.2893:0.2935:0.1994	.	845;821;771;821;783;821	F8W7A7;A1L4G8;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;.;CR034_HUMAN	I	821;821;783;845;771	ENSP00000385591:M821I;ENSP00000372576:M821I;ENSP00000300227:M783I;ENSP00000385867:M845I;ENSP00000385234:M771I	ENSP00000300227:M783I	M	-	3	0	C18orf34	28808569	0.001000	0.12720	0.049000	0.19019	0.989000	0.77384	-0.052000	0.11865	-0.214000	0.10078	0.563000	0.77884	ATG		0.493	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2		NM_198995		51	45	0	0	0	1	0	51	45		
CCDC178	374864	broad.mit.edu	37	18	30791874	30791874	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:30791874G>C	ENST00000383096.3	-	20	2406	c.2224C>G	c.(2224-2226)Ctt>Gtt	p.L742V	CCDC178_ENST00000403303.1_Missense_Mutation_p.L742V|CCDC178_ENST00000402325.1_Missense_Mutation_p.L742V|CCDC178_ENST00000300227.8_Missense_Mutation_p.L704V|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.L742V|CCDC178_ENST00000579947.1_Missense_Mutation_p.L742V|CCDC178_ENST00000406524.2_Missense_Mutation_p.L742V			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	742																	GTATCTTGAAGAGTTTTTTGT	0.328																																						uc002kxn.2		NaN																	0				ovary(1)	1						c.(2224-2226)CTT>GTT		hypothetical protein LOC374864 isoform 1							100.0	95.0	96.0					18																	30791874		2203	4297	6500	SO:0001583	missense	374864							g.chr18:30791874G>C	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2224C>G	18.37:g.30791874G>C	ENSP00000372576:p.Leu742Val					C18orf34_uc010dme.1_Missense_Mutation_p.L256V|C18orf34_uc010xbr.1_Missense_Mutation_p.L742V|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.L704V|C18orf34_uc002kxp.2_Missense_Mutation_p.L742V	p.L742V	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			19	2366	-			742					A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.2224C>G	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	G	2.075	-0.412094	0.04799	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.52526	1.22;1.22;1.36;1.29;0.66	3.97	2.19	0.27852	.	.	.	.	.	T	0.56920	0.2018	L	0.52573	1.65	0.09310	N	1	D;D;D;D;D	0.76494	0.996;0.999;0.999;0.999;0.999	D;D;D;D;D	0.83275	0.994;0.994;0.996;0.996;0.996	T	0.38415	-0.9662	9	0.39692	T	0.17	-7.9101	6.3336	0.21285	0.2241:0.0:0.7759:0.0	.	742;742;742;704;742	F8W7A7;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	V	742;742;704;742;742	ENSP00000385591:L742V;ENSP00000372576:L742V;ENSP00000300227:L704V;ENSP00000385867:L742V;ENSP00000385234:L742V	ENSP00000300227:L704V	L	-	1	0	C18orf34	29045872	0.832000	0.29368	0.046000	0.18839	0.003000	0.03518	1.777000	0.38604	0.656000	0.30886	-0.229000	0.12294	CTT		0.328	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2		NM_198995		22	29	0	0	0	1	0	22	29		
PHLPP1	23239	broad.mit.edu	37	18	60645778	60645778	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:60645778G>T	ENST00000262719.5	+	17	4502	c.4268G>T	c.(4267-4269)aGt>aTt	p.S1423I	PHLPP1_ENST00000400316.4_Missense_Mutation_p.S911I			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1423					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						GTGCAGCTCAGTGTCACTGAG	0.632																																						uc002lis.2		NaN																	0					0						c.(2731-2733)AGT>ATT		PH domain and leucine rich repeat protein							21.0	26.0	24.0					18																	60645778		2141	4238	6379	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60645778G>T	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4268G>T	18.37:g.60645778G>T	ENSP00000262719:p.Ser1423Ile						p.S911I	NM_194449	NP_919431	O60346	PHLP1_HUMAN			18	2910	+			1423					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.2732G>T	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745610	0.69418	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.26957	1.82;1.7	4.61	3.65	0.41850	Protein phosphatase 2C-like (2);	.	.	.	.	T	0.26085	0.0636	L	0.34521	1.04	0.47737	D	0.999505	D	0.64830	0.994	P	0.55161	0.77	T	0.06807	-1.0806	9	0.51188	T	0.08	-9.4796	3.3657	0.07202	0.5866:0.0:0.4134:0.0	.	1423	O60346	PHLP1_HUMAN	I	911;1423	ENSP00000383170:S911I;ENSP00000262719:S1423I	ENSP00000262719:S1423I	S	+	2	0	PHLPP1	58796758	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	2.726000	0.47302	1.034000	0.39945	0.655000	0.94253	AGT		0.632	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2		NM_194449		10	13	1	0	9.05144e-12	1	9.29403e-12	10	13		
ZNF236	7776	broad.mit.edu	37	18	74583695	74583695	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:74583695G>A	ENST00000253159.8	+	5	773	c.575G>A	c.(574-576)aGa>aAa	p.R192K	ZNF236_ENST00000320610.9_Missense_Mutation_p.R194K|ZNF236_ENST00000583095.1_Intron	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	192					cellular response to glucose stimulus (GO:0071333)|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(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AATATCGACAGAAGTGGATTC	0.418																																						uc002lmi.2		NaN																	0				ovary(4)	4						c.(574-576)AGA>AAA		zinc finger protein 236							157.0	138.0	144.0					18																	74583695		1938	4139	6077	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74583695G>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.575G>A	18.37:g.74583695G>A	ENSP00000253159:p.Arg192Lys					ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.R192K	p.R192K	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	5	773	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	192					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.575G>A	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.929960	0.73327	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.10573	2.86;3.01	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.23370	0.0565	L	0.29908	0.895	0.46774	D	0.999193	D;D	0.76494	0.999;0.994	D;D	0.70716	0.94;0.97	T	0.00920	-1.1514	10	0.42905	T	0.14	.	19.3379	0.94326	0.0:0.0:1.0:0.0	.	192;192	Q9NWI2;Q9UL36	.;ZN236_HUMAN	K	192	ENSP00000253159:R192K;ENSP00000444524:R192K	ENSP00000253159:R192K	R	+	2	0	ZNF236	72712683	1.000000	0.71417	0.988000	0.46212	0.458000	0.32498	9.195000	0.94971	2.641000	0.89580	0.655000	0.94253	AGA		0.418	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1				70	86	0	0	0	1	0	70	86		
ZFR2	23217	broad.mit.edu	37	19	3834946	3834946	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:3834946C>T	ENST00000262961.4	-	2	99	c.89G>A	c.(88-90)gGg>gAg	p.G30E	ZFR2_ENST00000591965.1_5'UTR	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	30							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		ATAGCTGGCCCCCACAGTGGG	0.637																																						uc002lyw.2		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(88-90)GGG>GAG		zinc finger RNA binding protein 2 isoform 1							17.0	21.0	20.0					19																	3834946		2029	4159	6188	SO:0001583	missense	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3834946C>T	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.89G>A	19.37:g.3834946C>T	ENSP00000262961:p.Gly30Glu					ZFR2_uc010xhx.1_RNA	p.G30E	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	2	101	-			30						Missense_Mutation	SNP	ENST00000262961.4	37	c.89G>A	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188557	0.38609	.	.	ENSG00000105278	ENST00000262961;ENST00000438164	T;T	0.14766	3.26;2.48	3.35	0.957	0.19613	.	.	.	.	.	T	0.06050	0.0157	N	0.08118	0	0.18873	N	0.999988	B	0.25235	0.121	B	0.23018	0.043	T	0.35201	-0.9798	9	0.45353	T	0.12	.	3.9707	0.09452	0.0:0.571:0.278:0.151	.	30	Q9UPR6	ZFR2_HUMAN	E	30	ENSP00000262961:G30E;ENSP00000388974:G30E	ENSP00000262961:G30E	G	-	2	0	ZFR2	3785946	0.989000	0.36119	0.098000	0.21074	0.032000	0.12392	0.534000	0.23098	0.623000	0.30267	0.289000	0.19496	GGG		0.637	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2		NM_015174		11	5	0	0	0	1	0	11	5		
CATSPERD	257062	broad.mit.edu	37	19	5745940	5745940	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:5745940C>G	ENST00000381624.3	+	9	735	c.674C>G	c.(673-675)tCa>tGa	p.S225*	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	225					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)											TTCAAGTACTCAGATCACCCC	0.542																																						uc002mda.2		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(673-675)TCA>TGA		transmembrane protein 146 precursor							171.0	164.0	166.0					19																	5745940		1906	4124	6030	SO:0001587	stop_gained	257062					integral to membrane		g.chr19:5745940C>G	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.674C>G	19.37:g.5745940C>G	ENSP00000371037:p.Ser225*					TMEM146_uc010duj.1_5'UTR	p.S225*	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			9	735	+			225			Extracellular (Potential).		Q6ZRP1	Nonsense_Mutation	SNP	ENST00000381624.3	37	c.674C>G	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	C	32	5.148738	0.94603	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	.	.	.	2.91	1.85	0.25348	.	0.538685	0.13330	U	0.395975	.	.	.	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5358	5.2388	0.15460	0.0:0.8285:0.0:0.1715	.	.	.	.	X	151;225	.	ENSP00000371037:S225X	S	+	2	0	TMEM146	5696940	0.151000	0.22747	0.006000	0.13384	0.339000	0.28857	1.512000	0.35812	0.762000	0.33152	0.491000	0.48974	TCA		0.542	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2		NM_152784		85	249	0	0	0	1	0	85	249		
NDUFA7	4701	broad.mit.edu	37	19	8386222	8386222	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:8386222G>A	ENST00000301457.2	-	1	58	c.21C>T	c.(19-21)ctC>ctT	p.L7L	RPS28_ENST00000600659.2_5'Flank|NDUFA7_ENST00000598884.1_Silent_p.L7L	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	7					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)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						GCCGCTGGATGAGACGGGTGG	0.716																																						uc002mjm.1		NaN																	0					0						c.(19-21)CTC>CTT		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						6.0	10.0	9.0					19																	8386222		1890	4052	5942	SO:0001819	synonymous_variant	4701				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:8386222G>A	AF050637	CCDS42492.1	19p13.2	2013-05-14	2002-08-29		ENSG00000267855	ENSG00000267855		"""Mitochondrial respiratory chain complex / Complex I"""	7691	protein-coding gene	gene with protein product	"""complex I B14.5a subunit"""	602139	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)"""			9763676	Standard	NM_005001		Approved	B14.5a	uc002mjm.2	O95182	OTTHUMG00000182459	ENST00000301457.2:c.21C>T	19.37:g.8386222G>A						RPS28_uc002mjn.2_5'Flank	p.L7L	NM_005001	NP_004992	O95182	NDUA7_HUMAN			1	59	-			7						Silent	SNP	ENST00000301457.2	37	c.21C>T	CCDS42492.1																																																																																				0.716	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461373.1		NM_005001		4	4	0	0	0	1	0	4	4		
MUC16	94025	broad.mit.edu	37	19	9067806	9067806	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:9067806G>C	ENST00000397910.4	-	3	19843	c.19640C>G	c.(19639-19641)tCt>tGt	p.S6547C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6549	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S6547C(1)|p.S2180C(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACTAGGCCAGAGGTGGGGAG	0.488																																						uc002mkp.2		NaN																	2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(19639-19641)TCT>TGT		mucin 16							80.0	72.0	74.0					19																	9067806		1917	4121	6038	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067806G>C	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.19640C>G	19.37:g.9067806G>C	ENSP00000381008:p.Ser6547Cys						p.S6547C	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	19844	-			6549			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.19640C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.123	-0.401004	0.04865	.	.	ENSG00000181143	ENST00000397910	T	0.24151	1.87	1.47	0.271	0.15640	.	.	.	.	.	T	0.20170	0.0485	L	0.34521	1.04	.	.	.	D	0.65815	0.995	P	0.46758	0.526	T	0.25012	-1.0144	8	0.87932	D	0	.	4.7283	0.12952	0.0:0.0:0.6332:0.3668	.	6547	B5ME49	.	C	6547	ENSP00000381008:S6547C	ENSP00000381008:S6547C	S	-	2	0	MUC16	8928806	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	0.434000	0.21494	0.161000	0.19458	0.177000	0.17058	TCT		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		28	17	0	0	0	1	0	28	17		
MUC16	94025	broad.mit.edu	37	19	9071775	9071775	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:9071775C>G	ENST00000397910.4	-	3	15874	c.15671G>C	c.(15670-15672)aGt>aCt	p.S5224T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5226	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACCCCTGTACTGGAGACCTC	0.507																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(15670-15672)AGT>ACT		mucin 16							153.0	150.0	151.0					19																	9071775		1953	4135	6088	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071775C>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.15671G>C	19.37:g.9071775C>G	ENSP00000381008:p.Ser5224Thr						p.S5224T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	15875	-			5226			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15671G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.433	-0.330343	0.05314	.	.	ENSG00000181143	ENST00000397910	T	0.02552	4.25	1.74	-0.655	0.11439	.	.	.	.	.	T	0.01189	0.0039	N	0.03608	-0.345	.	.	.	B	0.31193	0.312	B	0.21708	0.036	T	0.46176	-0.9210	8	0.87932	D	0	.	2.3169	0.04200	0.296:0.5121:0.0:0.1919	.	5224	B5ME49	.	T	5224	ENSP00000381008:S5224T	ENSP00000381008:S5224T	S	-	2	0	MUC16	8932775	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.825000	0.04433	-0.090000	0.12462	0.449000	0.29647	AGT		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		88	53	0	0	0	1	0	88	53		
YIPF2	78992	broad.mit.edu	37	19	11034009	11034009	+	Silent	SNP	G	G	A	rs151256467	byFrequency	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:11034009G>A	ENST00000586748.1	-	9	1081	c.909C>T	c.(907-909)atC>atT	p.I303I	YIPF2_ENST00000590329.1_Silent_p.I264I|YIPF2_ENST00000253031.2_Silent_p.I303I			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	303						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						GGGACAGCGCGATGTTTGAGG	0.627																																						uc002mqb.2		NaN																	0					0						c.(907-909)ATC>ATT		Yip1 domain family, member 2		G		2,4404	4.2+/-10.8	0,2,2201	158.0	154.0	155.0		909	-8.9	0.0	19	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous	YIPF2	NM_024029.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		303/317	11034009	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	78992					integral to membrane|transport vesicle		g.chr19:11034009G>A	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"""Yip1 domain family"""	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.909C>T	19.37:g.11034009G>A						YIPF2_uc002mqc.2_Silent_p.I303I	p.I303I	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN			9	1033	-			303			Lumenal (Potential).			Silent	SNP	ENST00000586748.1	37	c.909C>T	CCDS12251.1																																																																																				0.627	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1		NM_024029		47	140	0	0	0	1	0	47	140		
ZNF700	90592	broad.mit.edu	37	19	12060829	12060829	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:12060829C>G	ENST00000254321.5	+	4	2133	c.1990C>G	c.(1990-1992)Caa>Gaa	p.Q664E	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.Q646E|ZNF763_ENST00000591944.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	664					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CTCTTCTTTTCAAATACATGA	0.398																																						uc002msu.2		NaN																	0					0						c.(1990-1992)CAA>GAA		zinc finger protein 700							60.0	58.0	59.0					19																	12060829		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060829C>G	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1990C>G	19.37:g.12060829C>G	ENSP00000254321:p.Gln664Glu					ZNF700_uc010xme.1_Missense_Mutation_p.Q682E|ZNF763_uc010xmf.1_Intron	p.Q664E	NM_144566	NP_653167	Q9H0M5	ZN700_HUMAN			4	2116	+			664			C2H2-type 16.		B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1990C>G	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	c	0.851	-0.738693	0.03111	.	.	ENSG00000196757	ENST00000254321	T	0.35605	1.3	0.681	-1.36	0.09085	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24353	0.0590	L	0.41415	1.275	0.09310	N	1	B	0.25772	0.134	B	0.28385	0.089	T	0.23976	-1.0173	9	0.36615	T	0.2	.	2.8047	0.05424	0.4171:0.3661:0.0:0.2168	.	664	Q9H0M5	ZN700_HUMAN	E	664	ENSP00000254321:Q664E	ENSP00000254321:Q664E	Q	+	1	0	ZNF700	11921829	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.932000	0.00331	-1.119000	0.02958	-0.823000	0.03104	CAA		0.398	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2		NM_144566		26	27	0	0	0	1	0	26	27		
LPHN1	22859	broad.mit.edu	37	19	14273746	14273746	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:14273746C>G	ENST00000340736.6	-	6	1179	c.882G>C	c.(880-882)caG>caC	p.Q294H	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.Q289H|LPHN1_ENST00000591528.1_5'Flank	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	294	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGGGTTCAGCTGGCTCACCA	0.632																																						uc010xnn.1		NaN																	0				ovary(2)|lung(2)|central_nervous_system(1)	5						c.(880-882)CAG>CAC		latrophilin 1 isoform 1 precursor							92.0	66.0	75.0					19																	14273746		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14273746C>G	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.882G>C	19.37:g.14273746C>G	ENSP00000340688:p.Gln294His					LPHN1_uc010xno.1_Missense_Mutation_p.Q289H|uc002myf.2_Intron	p.Q294H	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			6	1178	-			294			Olfactomedin-like.|Extracellular (Potential).		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.882G>C	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785897	0.70337	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	D;D	0.90004	-2.6;-2.6	5.27	3.15	0.36227	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.93844	0.8031	M	0.84846	2.72	0.50313	D	0.999862	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93063	0.6476	10	0.87932	D	0	.	9.6371	0.39817	0.0:0.8283:0.0:0.1717	.	289;294	O94910-2;O94910	.;LPHN1_HUMAN	H	294;289	ENSP00000340688:Q294H;ENSP00000355328:Q289H	ENSP00000340688:Q294H	Q	-	3	2	LPHN1	14134746	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.189000	0.42621	0.606000	0.29965	0.655000	0.94253	CAG		0.632	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1		NM_014921		11	36	0	0	0	1	0	11	36		
JAK3	3718	broad.mit.edu	37	19	17953847	17953847	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:17953847C>T	ENST00000527670.1	-	4	584	c.555G>A	c.(553-555)ctG>ctA	p.L185L	JAK3_ENST00000458235.1_Silent_p.L185L|JAK3_ENST00000534444.1_Silent_p.L185L|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	185	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGACAGTCTTCAGCAGCTCTC	0.672		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	uc002nhn.3		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			acute megakaryocytic leukemia|		0				haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						c.(553-555)CTG>CTA		Janus kinase 3							24.0	25.0	24.0					19																	17953847		2180	4239	6419	SO:0001819	synonymous_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17953847C>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.555G>A	19.37:g.17953847C>T						JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Silent_p.L185L|JAK3_uc010xpx.1_Silent_p.L185L|JAK3_uc010xpy.1_3'UTR	p.L185L	NM_000215	NP_000206	P52333	JAK3_HUMAN			5	655	-			185			FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.555G>A	CCDS12366.1																																																																																				0.672	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1		NM_000215		42	28	0	0	0	1	0	42	28		
UPF1	5976	broad.mit.edu	37	19	18968269	18968269	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:18968269G>C	ENST00000599848.1	+	15	2351	c.2142G>C	c.(2140-2142)cgG>cgC	p.R714R	UPF1_ENST00000262803.5_Silent_p.R703R			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	714					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TCCAGTACCGGATGCACCCTG	0.647																																						uc002nkg.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2140-2142)CGG>CGC		regulator of nonsense transcripts 1							40.0	40.0	40.0					19																	18968269		2203	4300	6503	SO:0001819	synonymous_variant	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	g.chr19:18968269G>C	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2142G>C	19.37:g.18968269G>C						UPF1_uc002nkf.2_Silent_p.R703R|UPF1_uc002nkh.2_5'Flank	p.R714R	NM_002911	NP_002902	Q92900	RENT1_HUMAN			15	2417	+			714	R->A: Impairs ATPase activity and ATP binding.				O00239|O43343|Q86Z25|Q92842	Silent	SNP	ENST00000599848.1	37	c.2142G>C																																																																																					0.647	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1		NM_002911		22	16	0	0	0	1	0	22	16		
ZNF626	199777	broad.mit.edu	37	19	20807417	20807417	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:20807417C>G	ENST00000601440.1	-	4	1412	c.1266G>C	c.(1264-1266)gaG>gaC	p.E422D	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	422					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(1)|lung(3)|skin(1)	6						TGTAGGGTCTCTCTCCAGTAT	0.378																																						uc002npb.1		NaN																	0				skin(1)	1						c.(1264-1266)GAG>GAC		zinc finger protein 626 isoform 1							51.0	49.0	49.0					19																	20807417		2122	4245	6367	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807417C>G	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1266G>C	19.37:g.20807417C>G	ENSP00000469958:p.Glu422Asp					ZNF626_uc002npc.1_Missense_Mutation_p.E346D	p.E422D	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			4	1416	-			422					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1266G>C	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	1.270	-0.613477	0.03690	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62368	0.2422	L	0.60845	1.875	0.53005	D	0.999961	P	0.49307	0.922	P	0.56700	0.804	T	0.61192	-0.7112	8	0.72032	D	0.01	.	7.1275	0.25479	0.0:1.0:0.0:0.0	.	422	Q68DY1	ZN626_HUMAN	D	422;346;422	.	ENSP00000445201:E422D	E	-	3	2	ZNF626	20599257	0.010000	0.17322	0.003000	0.11579	0.003000	0.03518	-0.384000	0.07389	0.284000	0.22305	0.289000	0.19496	GAG		0.378	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2		NM_145297		46	35	0	0	0	1	0	46	35		
ZNF91	7644	broad.mit.edu	37	19	23544674	23544674	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:23544674C>G	ENST00000300619.7	-	4	1312	c.1107G>C	c.(1105-1107)aaG>aaC	p.K369N	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.K337N	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	369					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)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TATGAGTTATCTTATGATTAG	0.358																																						uc002nre.2		NaN																	0					0						c.(1105-1107)AAG>AAC		zinc finger protein 91							41.0	43.0	42.0					19																	23544674		1990	4184	6174	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544674C>G	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1107G>C	19.37:g.23544674C>G	ENSP00000300619:p.Lys369Asn					ZNF91_uc010xrj.1_Missense_Mutation_p.K337N	p.K369N	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	1220	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	369			C2H2-type 8.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1107G>C	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	7.488	0.650131	0.14516	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.07567	3.18;3.18	1.65	-3.29	0.05017	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14227	0.0344	L	0.46741	1.465	0.18873	N	0.999988	D;D	0.89917	0.996;1.0	D;D	0.78314	0.99;0.991	T	0.12528	-1.0544	9	0.66056	D	0.02	.	0.8626	0.01196	0.177:0.3996:0.176:0.2475	.	337;369	Q05481-2;Q05481	.;ZNF91_HUMAN	N	369;337	ENSP00000300619:K369N;ENSP00000380272:K337N	ENSP00000300619:K369N	K	-	3	2	ZNF91	23336514	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.079000	0.11357	-1.274000	0.02421	0.162000	0.16502	AAG		0.358	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1		NM_003430		15	45	0	0	0	1	0	15	45		
ZNF599	148103	broad.mit.edu	37	19	35251122	35251122	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:35251122C>G	ENST00000329285.8	-	4	957	c.584G>C	c.(583-585)aGg>aCg	p.R195T		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	195					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)			AGGGTTATTCCTTGCATCAGT	0.493																																						uc010edn.1		NaN																	0				ovary(1)|skin(1)	2						c.(583-585)AGG>ACG		zinc finger protein 599							179.0	157.0	164.0					19																	35251122		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35251122C>G	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.584G>C	19.37:g.35251122C>G	ENSP00000333802:p.Arg195Thr					ZNF599_uc010edm.1_Missense_Mutation_p.R158T	p.R195T	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	972	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		195					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.584G>C	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	C	5.822	0.335945	0.11013	.	.	ENSG00000153896	ENST00000392231;ENST00000329285	T	0.05717	3.4	2.75	2.75	0.32379	.	.	.	.	.	T	0.05640	0.0148	N	0.22421	0.69	0.26709	N	0.971018	B	0.06786	0.001	B	0.06405	0.002	T	0.22730	-1.0208	9	0.62326	D	0.03	.	11.6413	0.51235	0.0:1.0:0.0:0.0	.	195	Q96NL3	ZN599_HUMAN	T	194;195	ENSP00000333802:R195T	ENSP00000333802:R195T	R	-	2	0	ZNF599	39942962	0.000000	0.05858	0.004000	0.12327	0.021000	0.10359	-0.266000	0.08631	1.855000	0.53841	0.491000	0.48974	AGG		0.493	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2		XM_086046		37	83	0	0	0	1	0	37	83		
ZNF599	148103	broad.mit.edu	37	19	35251243	35251243	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:35251243C>T	ENST00000329285.8	-	4	836	c.463G>A	c.(463-465)Gat>Aat	p.D155N		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	155					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)			TCCAAATCATCATGTTTATAA	0.438																																						uc010edn.1		NaN																	0				ovary(1)|skin(1)	2						c.(463-465)GAT>AAT		zinc finger protein 599							136.0	139.0	138.0					19																	35251243		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35251243C>T	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.463G>A	19.37:g.35251243C>T	ENSP00000333802:p.Asp155Asn					ZNF599_uc010edm.1_Missense_Mutation_p.D118N	p.D155N	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	851	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		155					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.463G>A	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.496506	0.00159	.	.	ENSG00000153896	ENST00000392231;ENST00000329285	T	0.29655	1.56	2.27	1.22	0.21188	.	.	.	.	.	T	0.19287	0.0463	L	0.43152	1.355	0.19775	N	0.99996	B	0.02656	0.0	B	0.04013	0.001	T	0.36817	-0.9732	9	0.02654	T	1	.	6.9316	0.24444	0.0:0.8464:0.0:0.1536	.	155	Q96NL3	ZN599_HUMAN	N	154;155	ENSP00000333802:D155N	ENSP00000333802:D155N	D	-	1	0	ZNF599	39943083	0.000000	0.05858	0.033000	0.17914	0.009000	0.06853	-0.103000	0.10940	0.526000	0.28541	0.491000	0.48974	GAT		0.438	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2		XM_086046		34	127	0	0	0	1	0	34	127		
ZNF599	148103	broad.mit.edu	37	19	35251274	35251274	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:35251274C>G	ENST00000329285.8	-	4	805	c.432G>C	c.(430-432)gaG>gaC	p.E144D		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	144					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)			CAGGGCATATCTCTTTGTGGG	0.448																																						uc010edn.1		NaN																	0				ovary(1)|skin(1)	2						c.(430-432)GAG>GAC		zinc finger protein 599							133.0	140.0	138.0					19																	35251274		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35251274C>G	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.432G>C	19.37:g.35251274C>G	ENSP00000333802:p.Glu144Asp					ZNF599_uc010edm.1_Missense_Mutation_p.E107D	p.E144D	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	820	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		144					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.432G>C	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	C	4.108	0.018097	0.07959	.	.	ENSG00000153896	ENST00000392231;ENST00000329285	T	0.27104	1.69	2.57	2.57	0.30868	.	.	.	.	.	T	0.19087	0.0458	L	0.36672	1.1	0.26404	N	0.976378	B	0.28470	0.213	B	0.26202	0.067	T	0.11012	-1.0605	9	0.35671	T	0.21	.	8.7762	0.34762	0.0:1.0:0.0:0.0	.	144	Q96NL3	ZN599_HUMAN	D	143;144	ENSP00000333802:E144D	ENSP00000333802:E144D	E	-	3	2	ZNF599	39943114	0.066000	0.20996	0.117000	0.21633	0.190000	0.23558	2.321000	0.43805	1.759000	0.51996	0.491000	0.48974	GAG		0.448	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2		XM_086046		44	161	0	0	0	1	0	44	161		
GRAMD1A	57655	broad.mit.edu	37	19	35502453	35502453	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:35502453G>C	ENST00000317991.5	+	7	793	c.601G>C	c.(601-603)Gaa>Caa	p.E201Q	GRAMD1A_ENST00000599564.1_Missense_Mutation_p.E288Q|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.L4F|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.E194Q	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	201						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGCACTGCTTGAAAAGGTGGG	0.627																																						uc010xse.1		NaN																	0					0						c.(601-603)GAA>CAA		GRAM domain containing 1A isoform 1							59.0	63.0	62.0					19																	35502453		1877	4099	5976	SO:0001583	missense	57655					integral to membrane		g.chr19:35502453G>C	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.601G>C	19.37:g.35502453G>C	ENSP00000441032:p.Glu201Gln					GRAMD1A_uc002nxi.1_Missense_Mutation_p.E288Q|GRAMD1A_uc002nxk.2_Missense_Mutation_p.E194Q|GRAMD1A_uc002nxl.2_Missense_Mutation_p.L4F|GRAMD1A_uc010xsf.1_Missense_Mutation_p.E206Q|GRAMD1A_uc002nxm.1_5'Flank	p.E201Q	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		7	738	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		201					A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	37	c.601G>C	CCDS42546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.04|19.04	3.749956|3.749956	0.69533|0.69533	.|.	.|.	ENSG00000089351|ENSG00000089351	ENST00000453966;ENST00000317991;ENST00000411896|ENST00000504615	T;T|T	0.25085|0.51817	1.82;1.83|0.69	4.51|4.51	4.51|4.51	0.55191|0.55191	.|.	0.282684|.	0.33272|.	N|.	0.005087|.	T|T	0.40767|0.40767	0.1130|0.1130	L|L	0.46157|0.46157	1.445|1.445	0.34497|0.34497	D|D	0.705622|0.705622	B;B;B;B|B	0.34214|0.17038	0.053;0.442;0.079;0.225|0.02	B;B;B;B|B	0.30251|0.21360	0.113;0.11;0.109;0.07|0.034	T|T	0.45571|0.45571	-0.9252|-0.9252	10|9	0.48119|0.13108	T|T	0.1|0.6	.|.	14.7684|14.7684	0.69657|0.69657	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	201;201;194;288|4	Q96CP6-3;Q96CP6;Q96CP6-2;F5GZ02|B3KQF7	.;GRM1A_HUMAN;.;.|.	Q|F	288;201;194|4	ENSP00000441032:E201Q;ENSP00000439267:E194Q|ENSP00000423728:L4F	ENSP00000441032:E201Q|ENSP00000423728:L4F	E|L	+|+	1|3	0|2	GRAMD1A|GRAMD1A	40194293|40194293	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.934000|0.934000	0.57294|0.57294	9.363000|9.363000	0.97131|0.97131	2.338000|2.338000	0.79540|0.79540	0.561000|0.561000	0.74099|0.74099	GAA|TTG		0.627	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1		NM_020895		30	81	0	0	0	1	0	30	81		
ZNF781	163115	broad.mit.edu	37	19	38161042	38161042	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:38161042C>G	ENST00000590008.1	-	5	860	c.8G>C	c.(7-9)aGa>aCa	p.R3T	ZNF781_ENST00000358582.4_Missense_Mutation_p.R3T|ZNF781_ENST00000593040.1_5'Flank|ZFP30_ENST00000586732.1_Intron			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	3					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(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						CATTGCATTTCTTTGCATTAA	0.343																																						uc002ogy.2		NaN																	0					0						c.(7-9)AGA>ACA		zinc finger protein 781							63.0	67.0	66.0					19																	38161042		2203	4298	6501	SO:0001583	missense	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38161042C>G	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.8G>C	19.37:g.38161042C>G	ENSP00000466370:p.Arg3Thr					ZNF781_uc002ogz.2_5'UTR	p.R3T	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN			4	750	-			3					Q2VPJ8	Missense_Mutation	SNP	ENST00000590008.1	37	c.8G>C	CCDS12507.1	.	.	.	.	.	.	.	.	.	.	C	8.553	0.876050	0.17395	.	.	ENSG00000196381	ENST00000358582;ENST00000545586	T	0.06768	3.26	2.4	-0.252	0.12999	.	.	.	.	.	T	0.07548	0.0190	L	0.39898	1.24	0.09310	N	1	B	0.24043	0.096	B	0.15870	0.014	T	0.29518	-1.0009	9	0.87932	D	0	.	9.2636	0.37627	0.0:0.5486:0.4514:0.0	.	3	Q8N8C0	ZN781_HUMAN	T	3	ENSP00000351391:R3T	ENSP00000351391:R3T	R	-	2	0	ZNF781	42852882	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	-0.047000	0.11963	-0.105000	0.12132	-0.386000	0.06593	AGA		0.343	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2		NM_152605		27	81	0	0	0	1	0	27	81		
SERTAD1	29950	broad.mit.edu	37	19	40929372	40929372	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:40929372G>A	ENST00000357949.4	-	2	240	c.82C>T	c.(82-84)Cct>Tct	p.P28S		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	28					positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription, DNA-templated (GO:0006351)					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GTGTGGCCAGGATCTAGCCAC	0.622																																						uc002ont.3		NaN																	0					0						c.(82-84)CCT>TCT		SERTA domain containing 1							27.0	31.0	30.0					19																	40929372		2190	4279	6469	SO:0001583	missense	29950				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr19:40929372G>A	AF117959	CCDS12557.1	19q13.1-q13.2	2008-02-05				ENSG00000197019			17932	protein-coding gene	gene with protein product	"""CDK4-binding protein p34SEI"", ""transcriptional regulator interacting with the PHD-bromodomain 1"""					6434876, 10580009	Standard	NM_013376		Approved	SEI1, TRIP-Br1	uc002ont.4	Q9UHV2		ENST00000357949.4:c.82C>T	19.37:g.40929372G>A	ENSP00000350633:p.Pro28Ser						p.P28S	NM_013376	NP_037508	Q9UHV2	SRTD1_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	241	-			28					Q9BUE7	Missense_Mutation	SNP	ENST00000357949.4	37	c.82C>T	CCDS12557.1	.	.	.	.	.	.	.	.	.	.	G	9.227	1.034877	0.19590	.	.	ENSG00000197019	ENST00000357949	T	0.43294	0.95	5.0	5.0	0.66597	.	0.460210	0.19146	N	0.121562	T	0.30572	0.0769	L	0.27053	0.805	0.33513	D	0.591412	B	0.20052	0.041	B	0.18871	0.023	T	0.38457	-0.9660	10	0.51188	T	0.08	-0.1619	10.7088	0.45971	0.0895:0.0:0.9105:0.0	.	28	Q9UHV2	SRTD1_HUMAN	S	28	ENSP00000350633:P28S	ENSP00000350633:P28S	P	-	1	0	SERTAD1	45621212	0.248000	0.23930	0.938000	0.37757	0.477000	0.33069	1.179000	0.31993	2.319000	0.78375	0.561000	0.74099	CCT		0.622	SERTAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462571.1		NM_013376		48	29	0	0	0	1	0	48	29		
CYP2F1	1572	broad.mit.edu	37	19	41628036	41628036	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:41628036G>C	ENST00000331105.2	+	6	892	c.820G>C	c.(820-822)Gag>Cag	p.E274Q		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	274					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						CAAGATGGCAGAGGTAATCCC	0.602																																						uc002opu.1		NaN																	0					0						c.(820-822)GAG>CAG		cytochrome P450, family 2, subfamily F,							34.0	34.0	34.0					19																	41628036		2118	4247	6365	SO:0001583	missense	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41628036G>C	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.820G>C	19.37:g.41628036G>C	ENSP00000333534:p.Glu274Gln					CYP2F1_uc010xvw.1_Missense_Mutation_p.E60Q|CYP2F1_uc010xvv.1_Missense_Mutation_p.E274Q|CYP2F1_uc002opv.1_RNA	p.E274Q	NM_000774	NP_000765	P24903	CP2F1_HUMAN			6	876	+			274					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	c.820G>C	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	N	0.003	-2.561039	0.00136	.	.	ENSG00000197446	ENST00000331105	T	0.13657	2.57	3.27	-1.14	0.09741	.	0.327458	0.23261	N	0.050124	T	0.04003	0.0112	N	0.05574	-0.02	0.19945	N	0.99994	B;B;B	0.23650	0.089;0.004;0.0	B;B;B	0.19148	0.024;0.005;0.002	T	0.42430	-0.9452	10	0.02654	T	1	.	5.5904	0.17297	0.3262:0.302:0.3718:0.0	.	60;274;274	B4DL83;Q32MN5;P24903	.;.;CP2F1_HUMAN	Q	274	ENSP00000333534:E274Q	ENSP00000333534:E274Q	E	+	1	0	CYP2F1	46319876	0.000000	0.05858	0.183000	0.23137	0.045000	0.14185	-0.755000	0.04782	0.078000	0.16900	-0.780000	0.03373	GAG		0.602	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2				32	21	0	0	0	1	0	32	21		
PLAUR	5329	broad.mit.edu	37	19	44156432	44156432	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:44156432G>C	ENST00000340093.3	-	6	928	c.699C>G	c.(697-699)ttC>ttG	p.F233L	PLAUR_ENST00000601723.1_Intron|PLAUR_ENST00000339082.3_Missense_Mutation_p.F233L|PLAUR_ENST00000221264.4_Missense_Mutation_p.F188L	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	233	UPAR/Ly6 3.				attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	AGTCAATGAGGAAAGTCTCTT	0.572											OREG0025532	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002oxf.1		NaN																	0				ovary(1)	1						c.(697-699)TTC>TTG		plasminogen activator, urokinase receptor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)						85.0	78.0	80.0					19																	44156432		2203	4300	6503	SO:0001583	missense	5329				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	g.chr19:44156432G>C		CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"""CD molecules"""	9053	protein-coding gene	gene with protein product	"""urokinase-type plasminogen activator (uPA) receptor"", ""urokinase plasminogen activator surface receptor"""	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.699C>G	19.37:g.44156432G>C	ENSP00000339328:p.Phe233Leu		OREG0025532	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921	PLAUR_uc002oxd.1_Missense_Mutation_p.F233L|PLAUR_uc002oxe.1_Missense_Mutation_p.F228L|PLAUR_uc002oxg.1_Missense_Mutation_p.F188L	p.F233L	NM_002659	NP_002650	Q03405	UPAR_HUMAN			6	929	-		Prostate(69;0.0153)	233			UPAR/Ly6 3.		A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	Missense_Mutation	SNP	ENST00000340093.3	37	c.699C>G	CCDS12628.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512249	0.44660	.	.	ENSG00000011422	ENST00000339082;ENST00000340093;ENST00000221264	T;T;T	0.27720	1.65;1.65;1.65	4.49	-0.378	0.12497	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);CD59 antigen (1);	0.590685	0.14235	N	0.332468	T	0.15652	0.0377	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.20459	0.029;0.022;0.022;0.045	B;B;B;B	0.13407	0.009;0.008;0.008;0.007	T	0.16158	-1.0412	10	0.35671	T	0.21	-9.7969	3.7618	0.08607	0.3154:0.1852:0.4994:0.0	.	188;233;233;233	Q03405-3;Q03405;Q9UPI5;Q03405-2	.;UPAR_HUMAN;.;.	L	233;233;188	ENSP00000342049:F233L;ENSP00000339328:F233L;ENSP00000221264:F188L	ENSP00000221264:F188L	F	-	3	2	PLAUR	48848272	0.801000	0.28930	0.051000	0.19133	0.488000	0.33401	0.541000	0.23207	0.240000	0.21263	0.561000	0.74099	TTC		0.572	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1		NM_002659		24	62	0	0	0	1	0	24	62		
PVR	5817	broad.mit.edu	37	19	45164564	45164564	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:45164564G>C	ENST00000425690.3	+	7	1455	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q	PVR_ENST00000403059.4_Missense_Mutation_p.E341Q|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Missense_Mutation_p.E333Q	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	386					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CCCAGGTACAGAGCATGCCAG	0.547																																						uc002ozm.2		NaN																	0					0						c.(1156-1158)GAG>CAG		poliovirus receptor isoform alpha							138.0	127.0	130.0					19																	45164564		2203	4300	6503	SO:0001583	missense	5817				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity	g.chr19:45164564G>C	BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.1156G>C	19.37:g.45164564G>C	ENSP00000402060:p.Glu386Gln					PVR_uc010xxb.1_Missense_Mutation_p.E333Q|PVR_uc010xxc.1_Missense_Mutation_p.E341Q|PVR_uc002ozn.2_Missense_Mutation_p.E331Q	p.E386Q	NM_006505	NP_006496	P15151	PVR_HUMAN		Epithelial(262;0.000601)	7	1455	+	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)	386			Cytoplasmic (Potential).		B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	ENST00000425690.3	37	c.1156G>C	CCDS12640.1	.	.	.	.	.	.	.	.	.	.	G	5.893	0.348854	0.11126	.	.	ENSG00000073008	ENST00000344956;ENST00000425690;ENST00000403059	T;D;T	0.89123	0.34;-2.47;0.21	3.05	-3.58	0.04597	.	.	.	.	.	T	0.78020	0.4218	L	0.29908	0.895	0.09310	N	1	B;B;B	0.31519	0.231;0.231;0.327	B;B;B	0.24394	0.053;0.036;0.023	T	0.62511	-0.6839	9	0.37606	T	0.19	.	8.5364	0.33366	0.433:0.0:0.567:0.0	.	341;333;386	P15151-2;P15151-3;P15151	.;.;PVR_HUMAN	Q	333;386;341	ENSP00000340870:E333Q;ENSP00000402060:E386Q;ENSP00000385344:E341Q	ENSP00000340870:E333Q	E	+	1	0	PVR	49856404	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.955000	0.00675	-0.764000	0.04651	-0.812000	0.03155	GAG		0.547	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2		NM_006505		41	33	0	0	0	1	0	41	33		
PRKD2	25865	broad.mit.edu	37	19	47181774	47181774	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:47181774C>T	ENST00000291281.4	-	16	2442	c.2217G>A	c.(2215-2217)gtG>gtA	p.V739V	PRKD2_ENST00000593492.1_5'Flank|PRKD2_ENST00000433867.1_Silent_p.V739V|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000601806.1_Silent_p.V582V|PRKD2_ENST00000595515.1_Silent_p.V739V|PRKD2_ENST00000600194.1_Silent_p.V582V			Q9BZL6	KPCD2_HUMAN	protein kinase D2	739	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CGTACATGATCACGCCCACTG	0.627																																						uc002pfh.2		NaN																	0				ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7						c.(2215-2217)GTG>GTA		protein kinase D2 isoform A							171.0	124.0	140.0					19																	47181774		2203	4300	6503	SO:0001819	synonymous_variant	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47181774C>T	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2217G>A	19.37:g.47181774C>T						PRKD2_uc002pfd.2_Silent_p.V113V|PRKD2_uc010eks.2_Silent_p.V142V|PRKD2_uc010ekt.2_Silent_p.V6V|PRKD2_uc002pfe.2_Silent_p.V259V|PRKD2_uc002pff.2_Silent_p.V259V|PRKD2_uc002pfg.2_Silent_p.V582V|PRKD2_uc002pfi.2_Silent_p.V739V|PRKD2_uc002pfj.2_Silent_p.V739V|PRKD2_uc010xye.1_Silent_p.V739V|PRKD2_uc002pfk.2_Silent_p.V582V	p.V739V	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	17	2559	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	739			Protein kinase.		Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	c.2217G>A	CCDS12689.1																																																																																				0.627	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1		NM_016457		57	56	0	0	0	1	0	57	56		
PRKD2	25865	broad.mit.edu	37	19	47204090	47204090	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:47204090C>T	ENST00000291281.4	-	7	1312	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	PRKD2_ENST00000433867.1_Missense_Mutation_p.E363K|PRKD2_ENST00000601806.1_Missense_Mutation_p.E206K|PRKD2_ENST00000595515.1_Missense_Mutation_p.E363K|PRKD2_ENST00000600194.1_Missense_Mutation_p.E206K			Q9BZL6	KPCD2_HUMAN	protein kinase D2	363					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TCCTCCTCCTCACTGGCGTGG	0.587																																						uc002pfh.2		NaN																	0		p.E363E(1)		ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7						c.(1087-1089)GAG>AAG		protein kinase D2 isoform A							62.0	50.0	54.0					19																	47204090		2203	4300	6503	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47204090C>T	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1087G>A	19.37:g.47204090C>T	ENSP00000291281:p.Glu363Lys					PRKD2_uc002pfg.2_Missense_Mutation_p.E206K|PRKD2_uc002pfi.2_Missense_Mutation_p.E363K|PRKD2_uc002pfj.2_Missense_Mutation_p.E363K|PRKD2_uc010xye.1_Missense_Mutation_p.E363K|PRKD2_uc002pfk.2_Missense_Mutation_p.E206K	p.E363K	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	8	1429	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	363					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.1087G>A	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	9.425	1.083971	0.20309	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.65178	-0.14;-0.14	4.28	4.28	0.50868	.	1.396010	0.04753	N	0.424998	T	0.48059	0.1479	N	0.16368	0.405	0.25942	N	0.982855	B;B	0.12013	0.001;0.005	B;B	0.10450	0.002;0.005	T	0.16512	-1.0400	10	0.10902	T	0.67	-13.5339	12.4211	0.55520	0.0:1.0:0.0:0.0	.	363;363	E7ER94;Q9BZL6	.;KPCD2_HUMAN	K	363	ENSP00000291281:E363K;ENSP00000393978:E363K	ENSP00000291281:E363K	E	-	1	0	PRKD2	51895930	0.990000	0.36364	0.980000	0.43619	0.576000	0.36127	2.814000	0.48010	2.396000	0.81511	0.555000	0.69702	GAG		0.587	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1		NM_016457		35	34	0	0	0	1	0	35	34		
CYTH2	9266	broad.mit.edu	37	19	48973714	48973714	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:48973714G>A	ENST00000595676.1	+	2	226	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	CTC-273B12.5_ENST00000596497.1_RNA|CTC-273B12.5_ENST00000593476.1_RNA|CYTH2_ENST00000452733.2_Missense_Mutation_p.E42K|CTC-273B12.5_ENST00000600650.1_RNA|CYTH2_ENST00000427476.1_Missense_Mutation_p.E42K																							GGAGCTCAGTGAAGCCATGAG	0.677																																						uc002pjj.3		NaN																	0				ovary(1)	1						c.(124-126)GAA>AAA		cytohesin 2 isoform 1							54.0	61.0	58.0					19																	48973714		2203	4300	6503	SO:0001583	missense	9266				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr19:48973714G>A																												ENST00000595676.1:c.76G>A	19.37:g.48973714G>A	ENSP00000470383:p.Glu26Lys					uc002pjg.2_5'Flank|CYTH2_uc010xzr.1_Missense_Mutation_p.E42K|CYTH2_uc002pji.2_RNA	p.E42K	NM_017457	NP_059431	Q99418	CYH2_HUMAN			2	424	+			42			Potential.			Missense_Mutation	SNP	ENST00000595676.1	37	c.124G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.769654	0.96914	.	.	ENSG00000105443	ENST00000452733;ENST00000427476;ENST00000325139	T;T;T	0.15372	2.58;3.58;2.43	5.3	5.3	0.74995	.	0.053328	0.64402	D	0.000001	T	0.26159	0.0638	L	0.53617	1.68	0.80722	D	1	P;B	0.45768	0.866;0.045	P;B	0.48089	0.566;0.105	T	0.00466	-1.1722	10	0.32370	T	0.25	.	16.8273	0.85934	0.0:0.0:1.0:0.0	.	42;42	B4DS60;Q99418-2	.;.	K	42;42;64	ENSP00000408236:E42K;ENSP00000391648:E42K;ENSP00000314566:E64K	ENSP00000314566:E64K	E	+	1	0	CYTH2	53665526	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	5.087000	0.64480	2.659000	0.90383	0.561000	0.74099	GAA		0.677	CTC-273B12.7-001	PUTATIVE	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000466132.1				18	80	0	0	0	1	0	18	80		
LMTK3	114783	broad.mit.edu	37	19	49000753	49000753	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:49000753G>A	ENST00000600059.1	-	11	3800	c.3573C>T	c.(3571-3573)ctC>ctT	p.L1191L	LMTK3_ENST00000270238.3_Silent_p.L1220L			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1191	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CGTCTCCGCTGAGTGCCGTGT	0.716																																						uc002pjk.2		NaN																	0				lung(5)|central_nervous_system(1)	6						c.(3658-3660)CTC>CTT		lemur tyrosine kinase 3							22.0	24.0	24.0					19																	49000753		1898	4098	5996	SO:0001819	synonymous_variant	114783							g.chr19:49000753G>A	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.3573C>T	19.37:g.49000753G>A							p.L1220L	NM_001080434	NP_001073903				OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	12	3660	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Silent	SNP	ENST00000600059.1	37	c.3660C>T																																																																																					0.716	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1		NM_052895		8	42	0	0	0	1	0	8	42		
BCAT2	587	broad.mit.edu	37	19	49300454	49300454	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:49300454C>G	ENST00000316273.6	-	7	844	c.832G>C	c.(832-834)Gat>Cat	p.D278H	BCAT2_ENST00000599246.1_Missense_Mutation_p.D186H|BCAT2_ENST00000545387.2_Missense_Mutation_p.D186H|BCAT2_ENST00000402551.1_Missense_Mutation_p.D238H|BCAT2_ENST00000597011.1_Missense_Mutation_p.D238H|BCAT2_ENST00000598162.1_Missense_Mutation_p.D278H	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	278					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	TTACCCCCATCTTCGTGGGTC	0.607																																						uc002pkr.2		NaN																	0				ovary(1)	1						c.(832-834)GAT>CAT		branched chain aminotransferase 2, mitochondrial	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)						57.0	48.0	51.0					19																	49300454		2203	4300	6503	SO:0001583	missense	587					mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr19:49300454C>G	U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"""branched chain aminotransferase 2, mitochondrial"""	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.832G>C	19.37:g.49300454C>G	ENSP00000322991:p.Asp278His					BCAT2_uc002pkp.2_Missense_Mutation_p.D238H|BCAT2_uc002pkq.3_Missense_Mutation_p.D238H|BCAT2_uc002pks.2_Missense_Mutation_p.D238H|BCAT2_uc002pkt.2_Missense_Mutation_p.D186H|BCAT2_uc010emh.1_Missense_Mutation_p.D278H|BCAT2_uc010emi.1_Missense_Mutation_p.D186H	p.D278H	NM_001190	NP_001181	O15382	BCAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	7	869	-		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	278					B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	SNP	ENST00000316273.6	37	c.832G>C	CCDS12735.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283666	0.40394	.	.	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	T;T;T	0.22539	1.95;1.95;1.95	5.06	5.06	0.68205	Aminotransferase, class IV, conserved site (1);	0.213952	0.48286	D	0.000192	T	0.33059	0.0850	M	0.90145	3.09	0.44927	D	0.997947	B;B;B;B	0.25667	0.05;0.131;0.02;0.131	B;B;B;B	0.23574	0.047;0.047;0.028;0.047	T	0.28138	-1.0053	10	0.56958	D	0.05	-16.9838	12.0929	0.53737	0.0:0.8264:0.1736:0.0	.	238;278;186;278	B3KSI3;Q53EW7;O15382-2;O15382	.;.;.;BCAT2_HUMAN	H	278;186;238	ENSP00000322991:D278H;ENSP00000440973:D186H;ENSP00000385161:D238H	ENSP00000322991:D278H	D	-	1	0	BCAT2	53992266	0.997000	0.39634	0.999000	0.59377	0.858000	0.48976	1.346000	0.33964	2.523000	0.85059	0.491000	0.48974	GAT		0.607	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1				16	17	0	0	0	1	0	16	17		
ALDH16A1	126133	broad.mit.edu	37	19	49965030	49965030	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:49965030G>A	ENST00000293350.4	+	6	895	c.732G>A	c.(730-732)cgG>cgA	p.R244R	CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000455361.2_Silent_p.R244R|ALDH16A1_ENST00000540132.1_Silent_p.R81R|ALDH16A1_ENST00000433981.2_Silent_p.R79R	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	244						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)		CTGGAATCCGGAAGGTGGCCT	0.711																																						uc002pnt.2		NaN																	0				skin(1)	1						c.(730-732)CGG>CGA		aldehyde dehydrogenase 16 family, member A1							18.0	20.0	19.0					19																	49965030		2200	4297	6497	SO:0001819	synonymous_variant	126133						oxidoreductase activity|protein binding	g.chr19:49965030G>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.732G>A	19.37:g.49965030G>A						ALDH16A1_uc010yar.1_Silent_p.R244R|ALDH16A1_uc010yas.1_Silent_p.R79R|ALDH16A1_uc010yat.1_Silent_p.R81R	p.R244R	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	6	848	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	244					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	ENST00000293350.4	37	c.732G>A	CCDS12766.1																																																																																				0.711	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1		NM_153329		6	17	0	0	0	1	0	6	17		
ALDH16A1	126133	broad.mit.edu	37	19	49965915	49965915	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:49965915G>A	ENST00000293350.4	+	8	1164	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.R283Q|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.R171Q|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.R169Q	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	334						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)		CGGAGTGGCCGAGGGCTGGAT	0.672																																						uc002pnt.2		NaN																	0				skin(1)	1						c.(1000-1002)CGA>CAA		aldehyde dehydrogenase 16 family, member A1							36.0	39.0	38.0					19																	49965915		2203	4297	6500	SO:0001583	missense	126133						oxidoreductase activity|protein binding	g.chr19:49965915G>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.1001G>A	19.37:g.49965915G>A	ENSP00000293350:p.Arg334Gln					ALDH16A1_uc010yar.1_Missense_Mutation_p.R283Q|ALDH16A1_uc010yas.1_Missense_Mutation_p.R169Q|ALDH16A1_uc010yat.1_Missense_Mutation_p.R171Q	p.R334Q	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	8	1117	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	334					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	37	c.1001G>A	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.426447	0.62733	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	4.93	-4.21	0.03812	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	1.500260	0.03928	N	0.284783	T	0.23451	0.0567	L	0.45581	1.43	0.22412	N	0.999126	P;P;P	0.46142	0.709;0.873;0.873	B;B;B	0.38194	0.131;0.267;0.267	T	0.43097	-0.9412	10	0.49607	T	0.09	-13.5058	6.2294	0.20726	0.2432:0.3699:0.3869:0.0	.	171;283;334	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	Q	334;283;171;169	ENSP00000293350:R334Q;ENSP00000410142:R283Q;ENSP00000445088:R171Q;ENSP00000398675:R169Q	ENSP00000293350:R334Q	R	+	2	0	ALDH16A1	54657727	0.001000	0.12720	0.275000	0.24674	0.988000	0.76386	-0.352000	0.07701	-0.315000	0.08703	0.485000	0.47835	CGA		0.672	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1		NM_153329		31	65	0	0	0	1	0	31	65		
ZNF616	90317	broad.mit.edu	37	19	52618746	52618746	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:52618746G>A	ENST00000600228.1	-	4	1932	c.1671C>T	c.(1669-1671)gtC>gtT	p.V557V	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	557					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATTGACTGAAGACCTTGCCAC	0.438																																						uc002pym.2		NaN																	0					0						c.(1669-1671)GTC>GTT		zinc finger protein 616							113.0	102.0	106.0					19																	52618746		2203	4300	6503	SO:0001819	synonymous_variant	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618746G>A	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1671C>T	19.37:g.52618746G>A						ZNF616_uc002pyn.2_RNA	p.V557V	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1954	-			557			C2H2-type 14.		B3KRV1|Q0P658|Q658V7	Silent	SNP	ENST00000600228.1	37	c.1671C>T	CCDS33090.1																																																																																				0.438	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1		XM_030892		58	34	0	0	0	1	0	58	34		
ZNF321P	399669	broad.mit.edu	37	19	53432634	53432634	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:53432634G>A	ENST00000391777.3	-	4	345	c.224C>T	c.(223-225)tCa>tTa	p.S75L	ZNF816_ENST00000549216.1_Missense_Mutation_p.S6L|ZNF816_ENST00000434371.2_Missense_Mutation_p.S75L|ZNF816-ZNF321P_ENST00000313956.4_RNA			Q8N8H1	ZN321_HUMAN	zinc finger protein 321, pseudogene	6										endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						CGCTGTGGATGAGAACTCCTT	0.353																																						uc010eqj.2		NaN																	0					0						c.(175-177)TCA>TTA		zinc finger protein 321							110.0	117.0	115.0					19																	53432634		2200	4298	6498	SO:0001583	missense	399669							g.chr19:53432634G>A	AK096828		19q13.4	2013-01-08	2011-04-19	2011-04-19	ENSG00000221874	ENSG00000221874			13827	pseudogene	pseudogene			"""zinc finger protein 321"""	ZNF321			Standard	NR_037805		Approved	MGC35402		Q8N8H1	OTTHUMG00000167760	ENST00000391777.3:c.224C>T	19.37:g.53432634G>A	ENSP00000375656:p.Ser75Leu					ZNF321_uc002qaj.1_Missense_Mutation_p.S6L|ZNF321_uc002qak.1_Missense_Mutation_p.S59L	p.S59L	NM_203307	NP_976052				GBM - Glioblastoma multiforme(134;0.0305)	4	346	-								B7ZB38|Q68DZ0|Q86SS5	Missense_Mutation	SNP	ENST00000391777.3	37	c.176C>T	CCDS56101.1	.	.	.	.	.	.	.	.	.	.	a	0.138	-1.106036	0.01828	.	.	ENSG00000180257;ENSG00000180257;ENSG00000221874	ENST00000549216;ENST00000434371;ENST00000391777	T;T;T	0.01665	4.7;5.67;5.67	1.5	-3.01	0.05463	.	.	.	.	.	T	0.01254	0.0041	N	0.25890	0.77	0.09310	N	1	B	0.19073	0.033	B	0.21708	0.036	T	0.45585	-0.9251	9	0.09338	T	0.73	.	4.9528	0.14023	0.144:0.0:0.6029:0.253	.	6	Q8N8H1	ZN321_HUMAN	L	6;75;75	ENSP00000449832:S6L;ENSP00000438519:S75L;ENSP00000375656:S75L	ENSP00000375656:S75L	S	-	2	0	ZNF321P;ZNF816	58124446	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.955000	0.01523	-4.167000	0.00068	-2.047000	0.00414	TCA		0.353	ZNF321P-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000396130.1		NR_037805		104	88	0	0	0	1	0	104	88		
TNNT1	7138	broad.mit.edu	37	19	55645272	55645272	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:55645272G>A	ENST00000588981.1	-	13	978	c.774C>T	c.(772-774)atC>atT	p.I258I	TNNT1_ENST00000291901.8_Silent_p.I242I|TNNT1_ENST00000585321.2_Silent_p.I172I|TNNT1_ENST00000536926.1_Silent_p.I231I|TNNT1_ENST00000588426.1_Silent_p.I139I|TNNT1_ENST00000587465.2_Silent_p.I172I|TNNT1_ENST00000587758.1_Silent_p.I231I|TNNT1_ENST00000356783.5_Silent_p.I231I	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	258					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		GGGCGTGGCTGATGCGGTTGT	0.627																																						uc002qjb.3		NaN																	0				ovary(1)	1						c.(772-774)ATC>ATT		troponin T1, skeletal, slow isoform a							151.0	95.0	114.0					19																	55645272		2203	4300	6503	SO:0001819	synonymous_variant	7138				muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	g.chr19:55645272G>A		CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"""slow skeletal muscle troponin T"", ""troponin T1, skeletal, slow"", ""nemaline myopathy type 5"""	191041	"""troponin T1, skeletal, slow"""			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.774C>T	19.37:g.55645272G>A						TNNT1_uc002qiz.3_Silent_p.I172I|TNNT1_uc002qja.3_Silent_p.I172I|TNNT1_uc002qjc.3_Silent_p.I242I|TNNT1_uc002qje.3_Silent_p.I231I|TNNT1_uc002qjd.3_Silent_p.I231I	p.I258I	NM_003283	NP_003274	P13805	TNNT1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	13	863	-			258					O95472|Q16061|Q5U0E1	Silent	SNP	ENST00000588981.1	37	c.774C>T	CCDS12917.1																																																																																				0.627	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2		NM_003283		50	30	0	0	0	1	0	50	30		
DNAAF3	352909	broad.mit.edu	37	19	55672758	55672758	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:55672758C>A	ENST00000524407.2	-	7	725	c.692G>T	c.(691-693)cGa>cTa	p.R231L	DNAAF3_ENST00000527223.2_Missense_Mutation_p.R299L|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.R278L|DNAAF3_ENST00000455045.1_Missense_Mutation_p.R177L|DNAAF3_ENST00000587789.2_5'Flank|CTD-2587H24.4_ENST00000587871.1_5'Flank			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	231					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											CCGCCAGCGTCGGAACTCCTG	0.657																																						uc002qji.1		NaN																	0					0						c.(691-693)CGA>CTA		RecName: Full=UPF0470 protein C19orf51;							15.0	20.0	18.0					19																	55672758		1936	4117	6053	SO:0001583	missense	352909							g.chr19:55672758C>A	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.692G>T	19.37:g.55672758C>A	ENSP00000432046:p.Arg231Leu					C19orf51_uc002qjh.1_Missense_Mutation_p.R46L|C19orf51_uc002qjj.1_Missense_Mutation_p.R278L|C19orf51_uc002qjk.1_Missense_Mutation_p.R177L|C19orf51_uc002qjl.1_Missense_Mutation_p.R299L	p.R231L			Q8N9W5	CS051_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	7	726	-			231					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	c.692G>T	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	C	9.964	1.223743	0.22457	.	.	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720	T;T	0.22539	1.95;1.95	4.15	4.15	0.48705	.	0.513668	0.19659	N	0.109030	T	0.30198	0.0757	L	0.58583	1.82	0.29632	N	0.845369	P;D;D;B	0.59767	0.82;0.979;0.986;0.429	B;P;P;B	0.54706	0.135;0.56;0.759;0.131	T	0.06092	-1.0846	10	0.25751	T	0.34	-22.8757	9.5954	0.39571	0.2091:0.7909:0.0:0.0	.	299;177;252;231	E9PAX5;E3W9A1;Q8N9W5-3;Q8N9W5	.;.;.;CS051_HUMAN	L	299;177;278	ENSP00000394343:R177L;ENSP00000375600:R278L	ENSP00000301249:R299L	R	-	2	0	C19orf51	60364570	0.606000	0.26949	0.998000	0.56505	0.881000	0.50899	1.581000	0.36558	2.324000	0.78689	0.549000	0.68633	CGA		0.657	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5		NM_178837		6	16	1	0	0.00307968	1	0.00309483	6	16		
NLRP8	126205	broad.mit.edu	37	19	56466732	56466732	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:56466732C>T	ENST00000291971.3	+	3	1379	c.1308C>T	c.(1306-1308)ccC>ccT	p.P436P	NLRP8_ENST00000590542.1_Silent_p.P436P	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	436	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCTTGTTTCCCACCAGAGCTG	0.488																																						uc002qmh.2		NaN																	0				ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(1306-1308)CCC>CCT		NLR family, pyrin domain containing 8							85.0	87.0	86.0					19																	56466732		2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56466732C>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1308C>T	19.37:g.56466732C>T						NLRP8_uc010etg.2_Silent_p.P436P	p.P436P	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1379	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	436			NACHT.		Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.1308C>T	CCDS12937.1																																																																																				0.488	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1		NM_176811		65	42	0	0	0	1	0	65	42		
ZNF582	147948	broad.mit.edu	37	19	56895395	56895395	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:56895395G>C	ENST00000301310.4	-	5	1549	c.1391C>G	c.(1390-1392)tCa>tGa	p.S464*	ZNF582_ENST00000586929.1_Nonsense_Mutation_p.S464*	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	464					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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		AACGGTAGTTGAATCATGACT	0.363																																					Ovarian(183;1887 2032 4349 30507 51343)	uc002qmz.1		NaN																	0				ovary(3)|large_intestine(1)	4						c.(1390-1392)TCA>TGA		zinc finger protein 582							228.0	218.0	221.0					19																	56895395		2203	4300	6503	SO:0001587	stop_gained	147948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56895395G>C	AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.1391C>G	19.37:g.56895395G>C	ENSP00000301310:p.Ser464*					ZNF582_uc002qmy.2_Nonsense_Mutation_p.S495*	p.S464*	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN		GBM - Glioblastoma multiforme(193;0.0547)	5	1550	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	464					B4DQZ9|B7Z9R3|Q6PJT6	Nonsense_Mutation	SNP	ENST00000301310.4	37	c.1391C>G	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340695	0.60963	.	.	ENSG00000018869	ENST00000301310	.	.	.	4.39	-7.82	0.01205	.	1.389640	0.05425	N	0.544941	.	.	.	.	.	.	0.49687	D	0.999811	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	9.4712	0.38844	0.2015:0.5136:0.2849:0.0	.	.	.	.	X	464	.	ENSP00000301310:S464X	S	-	2	0	ZNF582	61587207	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-3.511000	0.00446	-1.263000	0.02455	0.561000	0.74099	TCA		0.363	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2		NM_144690		23	108	0	0	0	1	0	23	108		
ZNF470	388566	broad.mit.edu	37	19	57088680	57088680	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:57088680C>G	ENST00000330619.8	+	6	1569	c.883C>G	c.(883-885)Cag>Gag	p.Q295E	ZNF470_ENST00000391709.3_Missense_Mutation_p.Q295E|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AGCCTTCAGCCAGAATGCTCA	0.448																																						uc002qnl.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(883-885)CAG>GAG		zinc finger protein 470							76.0	77.0	77.0					19																	57088680		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57088680C>G	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.883C>G	19.37:g.57088680C>G	ENSP00000333223:p.Gln295Glu					ZNF470_uc010etn.2_Intron	p.Q295E	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	1559	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	295			C2H2-type 3.		A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.883C>G	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887050	0.52014	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.07327	3.2;3.2	3.89	3.89	0.44902	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13114	0.0318	L	0.43598	1.365	0.09310	N	1	D	0.58970	0.984	P	0.52881	0.712	T	0.10660	-1.0620	9	0.41790	T	0.15	.	8.7477	0.34596	0.0:0.8917:0.0:0.1083	.	295	Q6ECI4	ZN470_HUMAN	E	295	ENSP00000375590:Q295E;ENSP00000333223:Q295E	ENSP00000333223:Q295E	Q	+	1	0	ZNF470	61780492	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	-0.463000	0.06696	2.017000	0.59298	0.460000	0.39030	CAG		0.448	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2		NM_001001668		58	50	0	0	0	1	0	58	50		
MZF1	7593	broad.mit.edu	37	19	59073565	59073565	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:59073565C>T	ENST00000215057.2	-	6	2639	c.2079G>A	c.(2077-2079)cgG>cgA	p.R693R	MZF1_ENST00000599369.1_Silent_p.R693R|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594234.1_3'UTR	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	693					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		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;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TGAGCGTGGGCCGCTGGCGGA	0.667																																						uc002qto.2		NaN																	0				ovary(1)	1						c.(2077-2079)CGG>CGA		zinc finger protein 42 isoform 2							53.0	43.0	46.0					19																	59073565		2201	4298	6499	SO:0001819	synonymous_variant	7593				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:59073565C>T	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.2079G>A	19.37:g.59073565C>T						LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Silent_p.R693R	p.R693R	NM_198055	NP_932172	P28698	MZF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)	6	2640	-		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)	693			C2H2-type 12.		M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Silent	SNP	ENST00000215057.2	37	c.2079G>A	CCDS12988.1																																																																																				0.667	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1		NM_198055		7	26	0	0	0	1	0	7	26		
CPSF3	51692	broad.mit.edu	37	2	9583767	9583767	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:9583767C>T	ENST00000238112.3	+	10	1425	c.1219C>T	c.(1219-1221)Cgt>Tgt	p.R407C	CPSF3_ENST00000460593.1_Missense_Mutation_p.R370C	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	407					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TGAATTTATTCGTGCTTTGAA	0.388																																					Colon(194;1259 2048 3845 5218 19985)	uc002qzo.1		NaN																	0				breast(2)	2						c.(1219-1221)CGT>TGT		cleavage and polyadenylation specific factor 3,							167.0	156.0	160.0					2																	9583767		2203	4300	6503	SO:0001583	missense	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9583767C>T	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.1219C>T	2.37:g.9583767C>T	ENSP00000238112:p.Arg407Cys					CPSF3_uc010ewx.1_Intron|CPSF3_uc002qzp.1_Missense_Mutation_p.R370C	p.R407C	NM_016207	NP_057291	Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	10	1254	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)	407					O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	ENST00000238112.3	37	c.1219C>T	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220140	0.79464	.	.	ENSG00000119203	ENST00000238112;ENST00000540142;ENST00000460593	T;T	0.48836	0.8;0.8	5.48	4.61	0.57282	RNA-metabolising metallo-beta-lactamase (1);	0.000000	0.85682	D	0.000000	T	0.75708	0.3886	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.83216	-0.0071	10	0.72032	D	0.01	-21.7112	14.2883	0.66260	0.0:0.9285:0.0:0.0715	.	407	Q9UKF6	CPSF3_HUMAN	C	407;129;370	ENSP00000238112:R407C;ENSP00000418957:R370C	ENSP00000238112:R407C	R	+	1	0	CPSF3	9501218	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	2.981000	0.49329	1.332000	0.45431	0.555000	0.69702	CGT		0.388	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1		NM_016207		59	113	0	0	0	1	0	59	113		
NTSR2	23620	broad.mit.edu	37	2	11802148	11802148	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:11802148C>T	ENST00000306928.5	-	2	877	c.843G>A	c.(841-843)gtG>gtA	p.V281V		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	281					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	CTTTATGTCTCACCAGGCTGA	0.582																																						uc002rbq.3		NaN																	0					0						c.(841-843)GTG>GTA		neurotensin receptor 2	Levocabastine(DB01106)						75.0	80.0	78.0					2																	11802148		2203	4300	6503	SO:0001819	synonymous_variant	23620				sensory perception	integral to plasma membrane		g.chr2:11802148C>T	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.843G>A	2.37:g.11802148C>T							p.V281V	NM_012344	NP_036476	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	2	917	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		281			Cytoplasmic (Potential).		Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Silent	SNP	ENST00000306928.5	37	c.843G>A	CCDS1681.1																																																																																				0.582	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1				68	81	0	0	0	1	0	68	81		
DRC1	92749	broad.mit.edu	37	2	26624903	26624903	+	Nonsense_Mutation	SNP	G	G	T	rs149082901		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:26624903G>T	ENST00000288710.2	+	1	120	c.46G>T	c.(46-48)Gag>Tag	p.E16*		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	16					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											GAACGTGGACGAGCACTTGTC	0.677																																						uc002rhg.2		NaN																	0					0						c.(46-48)GAG>TAG		hypothetical protein LOC92749							34.0	30.0	31.0					2																	26624903		2203	4300	6503	SO:0001587	stop_gained	92749							g.chr2:26624903G>T	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.46G>T	2.37:g.26624903G>T	ENSP00000288710:p.Glu16*					C2orf39_uc010eym.1_RNA	p.E16*	NM_145038	NP_659475	Q96MC2	CC164_HUMAN			1	120	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		16					A8K1N8|Q53R91|Q53TA3|Q8NDI5	Nonsense_Mutation	SNP	ENST00000288710.2	37	c.46G>T	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694142	0.68386	.	.	ENSG00000157856	ENST00000288710	.	.	.	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.8033	13.6005	0.62015	0.0:0.0:1.0:0.0	.	.	.	.	X	16	.	ENSP00000288710:E16X	E	+	1	0	CCDC164	26478407	0.345000	0.24835	0.072000	0.20136	0.009000	0.06853	1.977000	0.40589	2.573000	0.86826	0.655000	0.94253	GAG		0.677	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1		NM_145038		20	28	1	0	2.89027e-11	1	2.94798e-11	20	28		
EMILIN1	11117	broad.mit.edu	37	2	27302012	27302012	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:27302012C>G	ENST00000380320.4	+	1	578	c.79C>G	c.(79-81)Cga>Gga	p.R27G		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	27					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACCCTCCTCGAGGTTTCAG	0.716																																						uc002rii.3		NaN																	0				pancreas(1)	1						c.(79-81)CGA>GGA		elastin microfibril interfacer 1 precursor							9.0	12.0	11.0					2																	27302012		2174	4269	6443	SO:0001583	missense	11117				cell adhesion	collagen		g.chr2:27302012C>G	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.79C>G	2.37:g.27302012C>G	ENSP00000369677:p.Arg27Gly					EMILIN1_uc010eyq.1_Missense_Mutation_p.R27G	p.R27G	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN			1	507	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		27					A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	c.79C>G	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840222	0.51057	.	.	ENSG00000138080	ENST00000380320	T	0.64438	-0.1	4.59	3.69	0.42338	.	0.343115	0.24328	N	0.039482	T	0.45498	0.1345	L	0.27053	0.805	0.33287	D	0.56299	P	0.47034	0.889	B	0.36989	0.238	T	0.59621	-0.7420	10	0.45353	T	0.12	-9.2588	12.5297	0.56106	0.0:0.8303:0.1697:0.0	.	27	Q9Y6C2	EMIL1_HUMAN	G	27	ENSP00000369677:R27G	ENSP00000369677:R27G	R	+	1	2	EMILIN1	27155516	1.000000	0.71417	0.969000	0.41365	0.510000	0.34073	3.008000	0.49544	1.029000	0.39812	0.462000	0.41574	CGA		0.716	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1		NM_007046		12	18	0	0	0	1	0	12	18		
PRR30	339779	broad.mit.edu	37	2	27360541	27360541	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:27360541C>T	ENST00000335524.3	-	3	1182	c.657G>A	c.(655-657)ctG>ctA	p.L219L	PREB_ENST00000260643.2_5'Flank	NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		219										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCGGTGCCCCAGCTGGACCA	0.662																																						uc002rjb.2		NaN																	0					0						c.(655-657)CTG>CTA		hypothetical protein LOC339779							23.0	26.0	25.0					2																	27360541		2195	4288	6483	SO:0001819	synonymous_variant	339779							g.chr2:27360541C>T																												ENST00000335524.3:c.657G>A	2.37:g.27360541C>T						PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|PREB_uc002riz.1_5'Flank|PREB_uc002rja.1_5'Flank	p.L219L	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN			3	1237	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		219					Q86UE2	Silent	SNP	ENST00000335524.3	37	c.657G>A	CCDS1739.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475287	0.26511	.	.	ENSG00000186143	ENST00000432962	.	.	.	4.67	3.71	0.42584	.	.	.	.	.	T	0.65228	0.2671	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68172	-0.5479	5	0.87932	D	0	-3.7455	9.0815	0.36554	0.2353:0.7647:0.0:0.0	.	.	.	.	R	55	.	ENSP00000393468:G55R	G	-	1	0	C2orf53	27214045	1.000000	0.71417	0.995000	0.50966	0.717000	0.41224	1.283000	0.33237	2.401000	0.81631	0.561000	0.74099	GGG		0.662	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1				36	33	0	0	0	1	0	36	33		
ZNF513	130557	broad.mit.edu	37	2	27600419	27600419	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:27600419G>T	ENST00000323703.6	-	4	1817	c.1619C>A	c.(1618-1620)tCa>tAa	p.S540*	ZNF513_ENST00000491924.1_5'Flank|ZNF513_ENST00000407879.1_Nonsense_Mutation_p.S478*	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	540					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCAGGATGAGTCTGTGTG	0.607																																						uc002rkk.2		NaN																	0				ovary(1)	1						c.(1618-1620)TCA>TAA		zinc finger protein 513							37.0	39.0	38.0					2																	27600419		2203	4300	6503	SO:0001587	stop_gained	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27600419G>T	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1619C>A	2.37:g.27600419G>T	ENSP00000318373:p.Ser540*					ZNF513_uc002rkj.2_Nonsense_Mutation_p.S478*	p.S540*	NM_144631	NP_653232	Q8N8E2	ZN513_HUMAN			4	1819	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		540					A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Nonsense_Mutation	SNP	ENST00000323703.6	37	c.1619C>A	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	G	36	5.867033	0.97043	.	.	ENSG00000163795	ENST00000323703;ENST00000407879	.	.	.	4.61	4.61	0.57282	.	0.000000	0.39083	N	0.001477	.	.	.	.	.	.	0.29416	N	0.860891	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1868	16.1523	0.81632	0.0:0.0:1.0:0.0	.	.	.	.	X	540;478	.	ENSP00000318373:S540X	S	-	2	0	ZNF513	27453923	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	2.046000	0.41260	2.388000	0.81334	0.561000	0.74099	TCA		0.607	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2		NM_144631		32	56	1	0	8.16277e-20	1	8.48098e-20	32	56		
BIRC6	57448	broad.mit.edu	37	2	32716581	32716581	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:32716581C>G	ENST00000421745.2	+	44	8430	c.8296C>G	c.(8296-8298)Ctt>Gtt	p.L2766V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2766					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGTGAAATTTCTTTCTGGCAC	0.398																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(8296-8298)CTT>GTT		baculoviral IAP repeat-containing 6							162.0	149.0	154.0					2																	32716581		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32716581C>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.8296C>G	2.37:g.32716581C>G	ENSP00000393596:p.Leu2766Val						p.L2766V	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			44	8430	+	Acute lymphoblastic leukemia(172;0.155)		2766					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.8296C>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396354	0.83011	.	.	ENSG00000115760	ENST00000421745	D	0.81579	-1.51	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	D	0.84696	0.5529	L	0.29908	0.895	0.53688	D	0.999979	P	0.52842	0.956	D	0.65010	0.931	D	0.86078	0.1542	10	0.72032	D	0.01	.	19.5565	0.95351	0.0:1.0:0.0:0.0	.	2766	Q9NR09	BIRC6_HUMAN	V	2766	ENSP00000393596:L2766V	ENSP00000393596:L2766V	L	+	1	0	BIRC6	32570085	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.455000	0.66658	2.626000	0.88956	0.467000	0.42956	CTT		0.398	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		72	101	0	0	0	1	0	72	101		
BIRC6	57448	broad.mit.edu	37	2	32740370	32740370	+	Missense_Mutation	SNP	G	G	C	rs376003061		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:32740370G>C	ENST00000421745.2	+	55	11016	c.10882G>C	c.(10882-10884)Gac>Cac	p.D3628H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3628					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACAATTACTAGACTCAGGTTT	0.418																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(10882-10884)GAC>CAC		baculoviral IAP repeat-containing 6							99.0	96.0	97.0					2																	32740370		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32740370G>C	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10882G>C	2.37:g.32740370G>C	ENSP00000393596:p.Asp3628His						p.D3628H	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			55	11016	+	Acute lymphoblastic leukemia(172;0.155)		3628					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.10882G>C	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352764	0.82132	.	.	ENSG00000115760	ENST00000421745	T	0.81247	-1.47	5.44	5.44	0.79542	.	0.156175	0.56097	D	0.000036	D	0.84311	0.5444	M	0.69358	2.11	0.80722	D	1	D	0.52996	0.957	P	0.48524	0.58	D	0.86497	0.1801	10	0.87932	D	0	.	19.2679	0.93997	0.0:0.0:1.0:0.0	.	3628	Q9NR09	BIRC6_HUMAN	H	3628	ENSP00000393596:D3628H	ENSP00000393596:D3628H	D	+	1	0	BIRC6	32593874	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.624000	0.98398	2.563000	0.86464	0.585000	0.79938	GAC		0.418	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		38	47	0	0	0	1	0	38	47		
SLC8A1	6546	broad.mit.edu	37	2	40656481	40656481	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:40656481C>A	ENST00000403092.1	-	2	973	c.940G>T	c.(940-942)Gag>Tag	p.E314*	SLC8A1_ENST00000408028.2_Nonsense_Mutation_p.E314*|SLC8A1_ENST00000405901.3_Nonsense_Mutation_p.E314*|SLC8A1_ENST00000542756.1_Nonsense_Mutation_p.E314*|SLC8A1_ENST00000332839.4_Nonsense_Mutation_p.E314*|SLC8A1_ENST00000406391.2_Nonsense_Mutation_p.E314*|SLC8A1_ENST00000402441.1_Nonsense_Mutation_p.E314*|SLC8A1_ENST00000405269.1_Nonsense_Mutation_p.E314*|SLC8A1_ENST00000542024.1_Nonsense_Mutation_p.E314*|SLC8A1_ENST00000406785.2_Nonsense_Mutation_p.E314*			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	314					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGGTCCCTCTCATCCACCTCC	0.413																																						uc002rrx.2		NaN																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(940-942)GAG>TAG		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						131.0	137.0	135.0					2																	40656481		2203	4300	6503	SO:0001587	stop_gained	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656481C>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.940G>T	2.37:g.40656481C>A	ENSP00000384763:p.Glu314*					SLC8A1_uc002rry.2_Nonsense_Mutation_p.E314*|SLC8A1_uc002rrz.2_Nonsense_Mutation_p.E314*|SLC8A1_uc002rsa.2_Nonsense_Mutation_p.E314*|SLC8A1_uc002rsd.3_Nonsense_Mutation_p.E314*|SLC8A1_uc002rsb.1_Nonsense_Mutation_p.E314*|SLC8A1_uc010fan.1_Nonsense_Mutation_p.E314*|SLC8A1_uc002rsc.1_Nonsense_Mutation_p.E314*	p.E314*	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	964	-			314			Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Nonsense_Mutation	SNP	ENST00000403092.1	37	c.940G>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	36	5.635324	0.96682	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	.	.	.	5.96	5.96	0.96718	.	0.046195	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	17.9158	0.88950	0.0:1.0:0.0:0.0	.	.	.	.	X	314	.	ENSP00000332931:E314X	E	-	1	0	SLC8A1	40509985	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.880000	0.69698	2.832000	0.97577	0.655000	0.94253	GAG		0.413	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1		NM_021097		83	129	1	0	1.46924e-35	1	1.56091e-35	83	129		
SPTBN1	6711	broad.mit.edu	37	2	54859746	54859746	+	Missense_Mutation	SNP	G	G	C	rs201202003		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:54859746G>C	ENST00000356805.4	+	17	3889	c.3608G>C	c.(3607-3609)gGa>gCa	p.G1203A	SPTBN1_ENST00000333896.5_Missense_Mutation_p.G1190A	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1203					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCTTGGAAGGAGCTGAAGCA	0.458																																						uc002rxu.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(3607-3609)GGA>GCA		spectrin, beta, non-erythrocytic 1 isoform 1							106.0	104.0	105.0					2																	54859746		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54859746G>C		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3608G>C	2.37:g.54859746G>C	ENSP00000349259:p.Gly1203Ala					SPTBN1_uc002rxx.2_Missense_Mutation_p.G1190A	p.G1203A	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		17	3857	+			1203			Spectrin 9.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.3608G>C	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	4.908	0.168745	0.09339	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.47869	0.83;0.83	5.57	3.6	0.41247	.	0.169697	0.51477	D	0.000081	T	0.24353	0.0590	N	0.05467	-0.045	0.40780	D	0.983161	B;B	0.02656	0.0;0.0	B;B	0.09377	0.003;0.004	T	0.13495	-1.0507	10	0.02654	T	1	.	15.7306	0.77800	0.0:0.3213:0.6787:0.0	.	1190;1203	Q01082-3;Q01082	.;SPTB2_HUMAN	A	1203;1190	ENSP00000349259:G1203A;ENSP00000334156:G1190A	ENSP00000334156:G1190A	G	+	2	0	SPTBN1	54713250	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.650000	0.54424	2.630000	0.89119	0.655000	0.94253	GGA		0.458	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3				38	47	0	0	0	1	0	38	47		
PUS10	150962	broad.mit.edu	37	2	61175207	61175207	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:61175207G>A	ENST00000316752.6	-	16	1683	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	PUS10_ENST00000407787.1_Silent_p.F474F	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	474					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			AGTGGAGGCGGAAGTGGTGCT	0.547																																						uc010fci.2		NaN																	0				ovary(2)|large_intestine(1)|kidney(1)	4						c.(1420-1422)TTC>TTT		pseudouridylate synthase 10							162.0	163.0	163.0					2																	61175207		2203	4300	6503	SO:0001819	synonymous_variant	150962				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr2:61175207G>A	AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.1422C>T	2.37:g.61175207G>A						PUS10_uc002sao.2_Silent_p.F474F|PUS10_uc010ypk.1_Silent_p.F251F	p.F474F	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)		16	1482	-			474					Q5JPJ5|Q96MI8	Silent	SNP	ENST00000316752.6	37	c.1422C>T	CCDS1865.1																																																																																				0.547	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2		NM_144709		116	130	0	0	0	1	0	116	130		
MPHOSPH10	10199	broad.mit.edu	37	2	71360405	71360405	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:71360405G>A	ENST00000244230.2	+	2	819	c.467G>A	c.(466-468)aGc>aAc	p.S156N	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.S156N	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	156					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GAAAACTCAAGCAAATCTGAT	0.448																																						uc002sht.1		NaN																	0				skin(2)|ovary(1)	3						c.(466-468)AGC>AAC		M-phase phosphoprotein 10							111.0	107.0	108.0					2																	71360405		2203	4300	6503	SO:0001583	missense	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71360405G>A	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.467G>A	2.37:g.71360405G>A	ENSP00000244230:p.Ser156Asn					MPHOSPH10_uc010feb.1_Missense_Mutation_p.S156N	p.S156N	NM_005791	NP_005782	O00566	MPP10_HUMAN			2	819	+			156					A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.467G>A	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	G	1.696	-0.502742	0.04261	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.12255	2.7;2.7	4.72	3.82	0.43975	.	0.989957	0.08260	N	0.973174	T	0.13927	0.0337	L	0.50333	1.59	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.12156	0.007;0.003	T	0.15780	-1.0425	10	0.25751	T	0.34	.	7.8672	0.29543	0.1908:0.0:0.8092:0.0	.	156;156	B3KPV5;O00566	.;MPP10_HUMAN	N	156;16	ENSP00000244230:S156N;ENSP00000393034:S16N	ENSP00000244230:S156N	S	+	2	0	MPHOSPH10	71213913	0.005000	0.15991	0.005000	0.12908	0.033000	0.12548	0.012000	0.13287	2.350000	0.79820	0.484000	0.47621	AGC		0.448	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2		NM_005791		59	76	0	0	0	1	0	59	76		
MPHOSPH10	10199	broad.mit.edu	37	2	71360599	71360599	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:71360599G>C	ENST00000244230.2	+	2	1013	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.E221Q	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	221					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AGAAAAAGAAGAGGAACGAAA	0.338																																						uc002sht.1		NaN																	0				skin(2)|ovary(1)	3						c.(661-663)GAG>CAG		M-phase phosphoprotein 10							67.0	73.0	71.0					2																	71360599		2203	4300	6503	SO:0001583	missense	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71360599G>C	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.661G>C	2.37:g.71360599G>C	ENSP00000244230:p.Glu221Gln					MPHOSPH10_uc010feb.1_Missense_Mutation_p.E221Q	p.E221Q	NM_005791	NP_005782	O00566	MPP10_HUMAN			2	1013	+			221			Potential.		A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.661G>C	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174105	0.57692	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.13778	2.56;2.56	5.04	4.14	0.48551	.	0.273612	0.41294	D	0.000912	T	0.33673	0.0871	M	0.78637	2.42	0.42665	D	0.993499	D;D	0.71674	0.998;0.997	P;D	0.65874	0.892;0.939	T	0.03433	-1.1037	10	0.39692	T	0.17	.	12.1375	0.53979	0.0907:0.0:0.9093:0.0	.	221;221	B3KPV5;O00566	.;MPP10_HUMAN	Q	221;81	ENSP00000244230:E221Q;ENSP00000393034:E81Q	ENSP00000244230:E221Q	E	+	1	0	MPHOSPH10	71214107	1.000000	0.71417	0.654000	0.29608	0.751000	0.42716	4.166000	0.58203	2.524000	0.85096	0.484000	0.47621	GAG		0.338	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2		NM_005791		40	33	0	0	0	1	0	40	33		
MPHOSPH10	10199	broad.mit.edu	37	2	71360641	71360641	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:71360641G>C	ENST00000244230.2	+	2	1055	c.703G>C	c.(703-705)Gat>Cat	p.D235H	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.D235H	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	235					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GGAAGATATTGATTTTTTTGA	0.343																																						uc002sht.1		NaN																	0				skin(2)|ovary(1)	3						c.(703-705)GAT>CAT		M-phase phosphoprotein 10							74.0	80.0	78.0					2																	71360641		2203	4300	6503	SO:0001583	missense	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71360641G>C	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.703G>C	2.37:g.71360641G>C	ENSP00000244230:p.Asp235His					MPHOSPH10_uc010feb.1_Missense_Mutation_p.D235H	p.D235H	NM_005791	NP_005782	O00566	MPP10_HUMAN			2	1055	+			235			Potential.		A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.703G>C	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854196	0.51270	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.14266	2.52;2.52	4.88	2.66	0.31614	.	0.097639	0.64402	D	0.000002	T	0.38799	0.1054	M	0.90425	3.115	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.75484	0.986;0.966	T	0.31916	-0.9926	10	0.72032	D	0.01	.	7.5757	0.27935	0.2552:0.0:0.7448:0.0	.	235;235	B3KPV5;O00566	.;MPP10_HUMAN	H	235;95	ENSP00000244230:D235H;ENSP00000393034:D95H	ENSP00000244230:D235H	D	+	1	0	MPHOSPH10	71214149	0.977000	0.34250	0.819000	0.32651	0.904000	0.53231	0.555000	0.23422	1.199000	0.43173	0.484000	0.47621	GAT		0.343	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2		NM_005791		49	52	0	0	0	1	0	49	52		
MOGS	7841	broad.mit.edu	37	2	74689845	74689845	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:74689845C>T	ENST00000233616.4	-	4	1233	c.1071G>A	c.(1069-1071)ctG>ctA	p.L357L	MOGS_ENST00000452063.2_Silent_p.L251L|MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	357					cellular protein metabolic process (GO:0044267)|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 membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGGCCTGGGTCAGTAGACTGC	0.542																																						uc010ffj.2		NaN																	0					0						c.(1069-1071)CTG>CTA		mannosyl-oligosaccharide glucosidase isoform 1							79.0	84.0	82.0					2																	74689845		1941	4141	6082	SO:0001819	synonymous_variant	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74689845C>T	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1071G>A	2.37:g.74689845C>T						MOGS_uc010ffh.2_Silent_p.L82L|MOGS_uc010yrt.1_Silent_p.L238L|MOGS_uc010ffi.2_Silent_p.L251L	p.L357L	NM_006302	NP_006293	Q13724	MOGS_HUMAN			4	1234	-			357			Lumenal (Potential).		A8K938|F5H6D0|Q17RN9|Q8TCT5	Silent	SNP	ENST00000233616.4	37	c.1071G>A	CCDS42700.1																																																																																				0.542	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1		NM_006302		55	62	0	0	0	1	0	55	62		
HTRA2	27429	broad.mit.edu	37	2	74757145	74757145	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:74757145G>A	ENST00000258080.3	+	1	642	c.12G>A	c.(10-12)ccG>ccA	p.P4P	AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Silent_p.P4P	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	4					adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)	p.P4P(2)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TGGCTGCGCCGAGGGCGGGGC	0.741																																						uc002smi.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|lung(1)	ovary(1)	1						c.(10-12)CCG>CCA		HtrA serine peptidase 2 isoform 1 preproprotein							16.0	22.0	20.0					2																	74757145		1713	3678	5391	SO:0001819	synonymous_variant	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757145G>A		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.12G>A	2.37:g.74757145G>A						AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Silent_p.P4P|HTRA2_uc002smk.1_Silent_p.P4P|HTRA2_uc002sml.1_Silent_p.P4P|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank	p.P4P	NM_013247	NP_037379	O43464	HTRA2_HUMAN			1	614	+			4					Q9HBZ4|Q9P0Y3|Q9P0Y4	Silent	SNP	ENST00000258080.3	37	c.12G>A	CCDS1951.1																																																																																				0.741	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2		NM_013247		57	67	0	0	0	1	0	57	67		
SEMA4F	10505	broad.mit.edu	37	2	74907021	74907021	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:74907021C>T	ENST00000357877.2	+	14	2147	c.1998C>T	c.(1996-1998)ttC>ttT	p.F666F	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Silent_p.F511F	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	666					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TGGCTGGCTTCTTCTTGGGGA	0.627																																						uc002sna.1		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1996-1998)TTC>TTT		semaphorin W precursor							37.0	43.0	41.0					2																	74907021		2203	4300	6503	SO:0001819	synonymous_variant	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74907021C>T	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1998C>T	2.37:g.74907021C>T						SEMA4F_uc010ffr.1_Silent_p.F278F|SEMA4F_uc002snb.1_Silent_p.F278F|SEMA4F_uc002snc.1_Silent_p.F511F	p.F666F	NM_004263	NP_004254	O95754	SEM4F_HUMAN			14	2109	+			666			Helical; (Potential).		Q542Y7|Q9NS35	Silent	SNP	ENST00000357877.2	37	c.1998C>T	CCDS1955.1																																																																																				0.627	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2		NM_004263		33	45	0	0	0	1	0	33	45		
KDM3A	55818	broad.mit.edu	37	2	86707394	86707394	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:86707394C>T	ENST00000409556.1	+	17	2786	c.2421C>T	c.(2419-2421)gcC>gcT	p.A807A	KDM3A_ENST00000542128.1_Silent_p.A755A|KDM3A_ENST00000312912.5_Silent_p.A807A|KDM3A_ENST00000409064.1_Silent_p.A807A			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	807					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CCAAGCCAGCCGGCAGCATGA	0.567																																					NSCLC(96;1150 1523 6936 46253 49736)	uc002sri.3		NaN																	0				breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						c.(2419-2421)GCC>GCT		jumonji domain containing 1A							65.0	72.0	69.0					2																	86707394		2203	4300	6503	SO:0001819	synonymous_variant	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86707394C>T	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2421C>T	2.37:g.86707394C>T						KDM3A_uc010ytj.1_Silent_p.A807A|KDM3A_uc010ytk.1_Silent_p.A755A	p.A807A	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN			16	2748	+			807					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Silent	SNP	ENST00000409556.1	37	c.2421C>T	CCDS1990.1																																																																																				0.567	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2		NM_018433		25	22	0	0	0	1	0	25	22		
ANKRD36B	57730	broad.mit.edu	37	2	98206122	98206122	+	RNA	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:98206122G>A	ENST00000443455.1	-	0	205							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		GGGGAAATGCGAAGCCATCCG	0.512																																						uc010yvc.1		NaN																	0					0						c.(25-27)TTC>TTT		ankyrin repeat domain 36B							98.0	82.0	87.0					2																	98206122		692	1591	2283			57730							g.chr2:98206122G>A	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"""Ankyrin repeat domain containing"""	29333	protein-coding gene	gene with protein product	"""melanoma-associated antigen"", ""CLL-associated antigen KW-1"""		"""KIAA1641"""	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98206122G>A						ANKRD36B_uc010yve.1_RNA|ANKRD36B_uc010fif.2_RNA	p.F9F	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN			1	307	-			9					Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	Silent	SNP	ENST00000443455.1	37	c.27C>T																																																																																					0.512	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2		NM_025190		30	47	0	0	0	1	0	30	47		
POU3F3	5455	broad.mit.edu	37	2	105472929	105472929	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:105472929G>A	ENST00000361360.2	+	1	961	c.961G>A	c.(961-963)Gac>Aac	p.D321N	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	321	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GACGTCGGACGACCTGGAGCA	0.716																																						uc010ywg.1		NaN																	0				ovary(1)	1						c.(961-963)GAC>AAC		POU class 3 homeobox 3							46.0	40.0	42.0					2																	105472929		2202	4300	6502	SO:0001583	missense	5455				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding	g.chr2:105472929G>A		CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"""Homeoboxes / POU class"""	9216	protein-coding gene	gene with protein product		602480	"""POU domain class 3, transcription factor 3"""				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.961G>A	2.37:g.105472929G>A	ENSP00000355001:p.Asp321Asn						p.D321N	NM_006236	NP_006227	P20264	PO3F3_HUMAN			1	961	+			321			POU-specific.		P78379|Q4ZG25	Missense_Mutation	SNP	ENST00000361360.2	37	c.961G>A	CCDS33265.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688060	0.88639	.	.	ENSG00000198914	ENST00000361360	D	0.83992	-1.79	3.58	3.58	0.41010	POU-specific (3);Lambda repressor-like, DNA-binding (2);	0.000000	0.64402	U	0.000006	D	0.87505	0.6194	L	0.45581	1.43	0.53688	D	0.99997	D	0.89917	1.0	D	0.78314	0.991	D	0.89060	0.3462	10	0.87932	D	0	.	14.4757	0.67544	0.0:0.0:1.0:0.0	.	321	P20264	PO3F3_HUMAN	N	321	ENSP00000355001:D321N	ENSP00000355001:D321N	D	+	1	0	POU3F3	104839361	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.998000	0.93550	1.753000	0.51906	0.391000	0.25812	GAC		0.716	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2				34	34	0	0	0	1	0	34	34		
DPP10	57628	broad.mit.edu	37	2	116485505	116485505	+	Silent	SNP	A	A	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:116485505A>G	ENST00000410059.1	+	8	1170	c.690A>G	c.(688-690)ttA>ttG	p.L230L	DPP10_ENST00000409163.1_Silent_p.L180L|DPP10_ENST00000393147.2_Silent_p.L234L|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Silent_p.L223L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	230						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CTGACTGGTTATATGAAGGTG	0.299																																						uc002tla.1		NaN																	0				ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(688-690)TTA>TTG		dipeptidyl peptidase 10 isoform long							43.0	47.0	46.0					2																	116485505		2203	4294	6497	SO:0001819	synonymous_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116485505A>G	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.690A>G	2.37:g.116485505A>G						DPP10_uc002tlb.1_Silent_p.L180L|DPP10_uc002tlc.1_Silent_p.L226L|DPP10_uc002tle.2_Silent_p.L234L|DPP10_uc002tlf.1_Silent_p.L223L	p.L230L	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			8	1147	+			230			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	c.690A>G	CCDS46400.1																																																																																				0.299	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4		NM_020868		19	19	0	0	0	1	0	19	19		
DDX18	8886	broad.mit.edu	37	2	118577326	118577326	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:118577326G>A	ENST00000263239.2	+	3	600	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	158					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGATAATGATGAAGATGAGAG	0.413											OREG0003814	type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002tlh.1		NaN																	0				breast(2)|ovary(1)|lung(1)	4						c.(472-474)GAA>AAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							81.0	81.0	81.0					2																	118577326		2203	4300	6503	SO:0001583	missense	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118577326G>A	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.472G>A	2.37:g.118577326G>A	ENSP00000263239:p.Glu158Lys		OREG0003814	type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1489		p.E158K	NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN			3	571	+			158					Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	c.472G>A	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443067	0.25987	.	.	ENSG00000088205	ENST00000263239	T	0.21734	1.99	3.69	2.81	0.32909	.	0.773422	0.12246	N	0.486042	T	0.11836	0.0288	N	0.19112	0.55	0.19945	N	0.999948	B	0.02656	0.0	B	0.04013	0.001	T	0.34900	-0.9810	10	0.12766	T	0.61	0.1166	8.3145	0.32091	0.1137:0.0:0.8863:0.0	.	158	Q9NVP1	DDX18_HUMAN	K	158	ENSP00000263239:E158K	ENSP00000263239:E158K	E	+	1	0	DDX18	118293796	0.567000	0.26626	0.002000	0.10522	0.051000	0.14879	2.481000	0.45215	0.906000	0.36621	0.655000	0.94253	GAA		0.413	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3		NM_006773		17	45	0	0	0	1	0	17	45		
CNTNAP5	129684	broad.mit.edu	37	2	125555701	125555701	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:125555701G>A	ENST00000431078.1	+	19	3382	c.3018G>A	c.(3016-3018)acG>acA	p.T1006T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1006					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGGCTGGCACGTCGGTTACTT	0.423																																						uc002tno.2		NaN																	0				ovary(10)	10						c.(3016-3018)ACG>ACA		contactin associated protein-like 5 precursor							82.0	78.0	79.0					2																	125555701		1905	4111	6016	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125555701G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3018G>A	2.37:g.125555701G>A						CNTNAP5_uc010flu.2_Silent_p.T1007T	p.T1006T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	19	3382	+			1006			Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.3018G>A	CCDS46401.1																																																																																				0.423	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3				8	6	0	0	0	1	0	8	6		
UGGT1	56886	broad.mit.edu	37	2	128935411	128935411	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:128935411G>C	ENST00000259253.6	+	33	3677	c.3630G>C	c.(3628-3630)caG>caC	p.Q1210H	UGGT1_ENST00000375990.3_Missense_Mutation_p.Q1186H	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1210					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGCAGGTTCAGAAGAAGGCAG	0.418																																						uc002tps.2		NaN																	0				ovary(1)	1						c.(3628-3630)CAG>CAC		UDP-glucose ceramide glucosyltransferase-like 1							285.0	257.0	266.0					2																	128935411		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128935411G>C	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.3630G>C	2.37:g.128935411G>C	ENSP00000259253:p.Gln1210His					UGGT1_uc002tpr.2_Missense_Mutation_p.Q1186H	p.Q1210H	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			33	3808	+			1210					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.3630G>C	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.687215	0.68157	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.08896	3.05;3.04	5.82	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.12518	0.0304	M	0.78456	2.415	0.58432	D	0.999997	B	0.33345	0.409	B	0.30943	0.122	T	0.02444	-1.1158	9	.	.	.	.	11.7841	0.52032	0.1399:0.0:0.8601:0.0	.	1210	Q9NYU2	UGGG1_HUMAN	H	1186;1210	ENSP00000365158:Q1186H;ENSP00000259253:Q1210H	.	Q	+	3	2	UGGT1	128651881	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.112000	0.41892	1.474000	0.48178	0.655000	0.94253	CAG		0.418	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2		NM_020120		96	288	0	0	0	1	0	96	288		
SMPD4	55627	broad.mit.edu	37	2	130911411	130911411	+	Nonsense_Mutation	SNP	G	G	C	rs142449057		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:130911411G>C	ENST00000409031.1	-	17	3022	c.1874C>G	c.(1873-1875)tCa>tGa	p.S625*	SMPD4_ENST00000351288.6_Nonsense_Mutation_p.S596*|SMPD4_ENST00000431183.2_Nonsense_Mutation_p.S523*|SMPD4_ENST00000339679.7_Nonsense_Mutation_p.S483*|SMPD4_ENST00000426662.2_Nonsense_Mutation_p.S261*|SMPD4_ENST00000473720.1_5'Flank|SMPD4_ENST00000453750.1_Nonsense_Mutation_p.S374*|SMPD4_ENST00000452225.2_Nonsense_Mutation_p.S366*|SMPD4_ENST00000443958.2_Nonsense_Mutation_p.S289*	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	586					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GCCCAGCCATGAGAGGAAGGA	0.592																																						uc002tqq.1		NaN																	0					0						c.(1873-1875)TCA>TGA		sphingomyelin phosphodiesterase 4 isoform 2	Phosphatidylserine(DB00144)						53.0	53.0	53.0					2																	130911411		2201	4300	6501	SO:0001587	stop_gained	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130911411G>C	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.1874C>G	2.37:g.130911411G>C	ENSP00000386531:p.Ser625*					SMPD4_uc002tqo.1_Nonsense_Mutation_p.S157*|SMPD4_uc002tqp.1_Nonsense_Mutation_p.S364*|SMPD4_uc010yzy.1_Nonsense_Mutation_p.S374*|SMPD4_uc010yzz.1_Nonsense_Mutation_p.S289*|SMPD4_uc002tqr.1_Nonsense_Mutation_p.S596*|SMPD4_uc002tqs.1_Nonsense_Mutation_p.S493*|SMPD4_uc002tqt.1_Nonsense_Mutation_p.S474*|SMPD4_uc010zaa.1_Nonsense_Mutation_p.S483*|SMPD4_uc010zab.1_Nonsense_Mutation_p.S523*|SMPD4_uc010zac.1_Nonsense_Mutation_p.S366*|SMPD4_uc010zad.1_Nonsense_Mutation_p.S261*	p.S625*	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN			17	2394	-	Colorectal(110;0.1)		586					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Nonsense_Mutation	SNP	ENST00000409031.1	37	c.1874C>G	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	36|36	5.795109|5.795109	0.96952|0.96952	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000439886|ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662;ENST00000457039;ENST00000449159	.|.	.|.	.|.	3.94|3.94	3.94|3.94	0.45596|0.45596	.|.	.|0.128863	.|0.53938	.|D	.|0.000047	T|.	0.68641|.	0.3023|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79605|.	-0.1734|.	3|.	.|0.72032	.|D	.|0.01	.|.	13.4766|13.4766	0.61312|0.61312	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	500|596;625;523;374;289;483;366;261;222;135	.|.	.|ENSP00000339721:S483X	H|S	-|-	1|2	0|0	SMPD4|SMPD4	130627881|130627881	1.000000|1.000000	0.71417|0.71417	0.907000|0.907000	0.35723|0.35723	0.012000|0.012000	0.07955|0.07955	6.036000|6.036000	0.70948|0.70948	1.718000|1.718000	0.51419|0.51419	0.555000|0.555000	0.69702|0.69702	CAT|TCA		0.592	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3		NM_017751		138	76	0	0	0	1	0	138	76		
ACMSD	130013	broad.mit.edu	37	2	135655919	135655919	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:135655919C>T	ENST00000356140.5	+	9	994	c.858C>T	c.(856-858)gtC>gtT	p.V286V	AC016725.4_ENST00000537615.1_RNA|ACMSD_ENST00000392928.1_Silent_p.V228V|AC016725.4_ENST00000392929.2_RNA|AC016725.4_ENST00000413962.1_RNA|ACMSD_ENST00000283054.4_Silent_p.V228V|AC016725.4_ENST00000428857.1_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	286					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		AGGATAAAGTCATTTTGGGAA	0.343																																						uc002ttz.2		NaN																	0				skin(1)	1						c.(856-858)GTC>GTT		aminocarboxymuconate semialdehyde decarboxylase							66.0	70.0	69.0					2																	135655919		2203	4299	6502	SO:0001819	synonymous_variant	130013				quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding	g.chr2:135655919C>T	AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.858C>T	2.37:g.135655919C>T						ACMSD_uc002tua.2_Silent_p.V228V|uc010zbe.1_Intron	p.V286V	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.115)	9	925	+			286					Q3B7X3|Q53SR5|Q96KY2	Silent	SNP	ENST00000356140.5	37	c.858C>T	CCDS2173.2																																																																																				0.343	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254627.1				277	37	0	0	0	1	0	277	37		
XIRP2	129446	broad.mit.edu	37	2	168104227	168104227	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:168104227G>A	ENST00000409195.1	+	9	6414	c.6325G>A	c.(6325-6327)Gat>Aat	p.D2109N	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2109N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D1887N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1934					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAGAAGGATGATGTCTTTAA	0.368																																						uc002udx.2		NaN																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(6325-6327)GAT>AAT		xin actin-binding repeat containing 2 isoform 1							60.0	57.0	58.0					2																	168104227		1931	4147	6078	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168104227G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6325G>A	2.37:g.168104227G>A	ENSP00000386840:p.Asp2109Asn					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D1934N|XIRP2_uc010fpq.2_Missense_Mutation_p.D1887N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.D2109N	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	6343	+			1934					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.6325G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	3.578	-0.086235	0.07097	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.21361	2.01;2.01;2.01	5.92	4.06	0.47325	.	1.322300	0.04676	N	0.411452	T	0.17662	0.0424	L	0.38531	1.155	0.09310	N	1	B;B;B	0.12013	0.003;0.005;0.005	B;B;B	0.09377	0.002;0.004;0.004	T	0.35992	-0.9766	10	0.13470	T	0.59	-0.5444	7.0965	0.25313	0.3507:0.0:0.6493:0.0	.	1934;1934;1887	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	2109;2109;1887	ENSP00000386840:D2109N;ENSP00000295237:D2109N;ENSP00000387255:D1887N	ENSP00000295237:D2109N	D	+	1	0	XIRP2	167812473	0.000000	0.05858	0.002000	0.10522	0.040000	0.13550	0.537000	0.23144	0.786000	0.33708	0.650000	0.86243	GAT		0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1		NM_152381		39	10	0	0	0	1	0	39	10		
TTN	7273	broad.mit.edu	37	2	179406276	179406276	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:179406276C>G	ENST00000591111.1	-	300	92829	c.92605G>C	c.(92605-92607)Gat>Cat	p.D30869H	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D23445H|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D23570H|TTN_ENST00000342175.6_Missense_Mutation_p.D23637H|TTN_ENST00000342992.6_Missense_Mutation_p.D29942H|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D32510H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30869	Fibronectin type-III 125. {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)			CGGGAAACATCAAATATCTGT	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.(89824-89826)GAT>CAT		titin isoform N2-A							78.0	72.0	74.0					2																	179406276		1924	4123	6047	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179406276C>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.92605G>C	2.37:g.179406276C>G	ENSP00000465570:p.Asp30869His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D23637H|TTN_uc010zfi.1_Missense_Mutation_p.D23570H|TTN_uc010zfj.1_Missense_Mutation_p.D23445H	p.D29942H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		299	90048	-			30869					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.89824G>C		.	.	.	.	.	.	.	.	.	.	C	24.7	4.562805	0.86335	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.56	5.56	0.83823	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80732	0.4679	M	0.86573	2.825	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.83661	0.0161	9	0.87932	D	0	.	19.5319	0.95232	0.0:1.0:0.0:0.0	.	23445;23570;23637;30869	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	29942;23445;23637;23570;23442	ENSP00000343764:D29942H;ENSP00000434586:D23445H;ENSP00000340554:D23637H;ENSP00000352154:D23570H	ENSP00000340554:D23637H	D	-	1	0	TTN	179114522	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.814000	0.86154	2.616000	0.88540	0.561000	0.74099	GAT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		11	3	0	0	0	1	0	11	3		
TTN	7273	broad.mit.edu	37	2	179435914	179435914	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:179435914C>G	ENST00000591111.1	-	276	70246	c.70022G>C	c.(70021-70023)aGa>aCa	p.R23341T	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R15917T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16042T|TTN_ENST00000342175.6_Missense_Mutation_p.R16109T|TTN_ENST00000342992.6_Missense_Mutation_p.R22414T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R24982T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23341	Fibronectin type-III 69. {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)			TGCAGAGACTCTAAATTCATA	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.(67240-67242)AGA>ACA		titin isoform N2-A							98.0	97.0	97.0					2																	179435914		1955	4153	6108	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179435914C>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.70022G>C	2.37:g.179435914C>G	ENSP00000465570:p.Arg23341Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R16109T|TTN_uc010zfi.1_Missense_Mutation_p.R16042T|TTN_uc010zfj.1_Missense_Mutation_p.R15917T	p.R22414T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	67465	-			23341					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.67241G>C		.	.	.	.	.	.	.	.	.	.	C	13.98	2.399419	0.42512	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.28	5.28	0.74379	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.82056	0.4954	M	0.91768	3.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.85983	0.1484	9	0.87932	D	0	.	19.2734	0.94019	0.0:1.0:0.0:0.0	.	15917;16042;16109;23341	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	22414;15917;16109;16042;15915	ENSP00000343764:R22414T;ENSP00000434586:R15917T;ENSP00000340554:R16109T;ENSP00000352154:R16042T	ENSP00000340554:R16109T	R	-	2	0	TTN	179144160	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.630000	0.89119	0.650000	0.86243	AGA		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		61	18	0	0	0	1	0	61	18		
CCDC141	285025	broad.mit.edu	37	2	179701672	179701673	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:179701672_179701673GG>AA	ENST00000420890.2	-	23	4390_4391	c.4273_4274CC>TT	c.(4273-4275)CCa>TTa	p.P1425L	CCDC141_ENST00000295723.5_Missense_Mutation_p.P850L|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1425	Ig-like.									NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CAAAGTCACTGGAGAACCTTCC	0.446																																						uc002unf.1		NaN																	0				ovary(7)|pancreas(2)|skin(1)	10						c.(2548-2550)CCA>TTA		coiled-coil domain containing 141																																				SO:0001583	missense	285025						protein binding	g.chr2:179701672_179701673GG>AA	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.4273_4274delinsAA	2.37:g.179701672_179701673delinsAA	ENSP00000395995:p.Pro1425Leu					CCDC141_uc002une.1_Missense_Mutation_p.P300L	p.P850L	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		13	2605_2606	-			850			Ig-like.		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	DNP	ENST00000420890.2	37	c.2548_2549CC>TT																																																																																					0.446	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_173648		28	8	0	0	0	1	0	28	8		
CERKL	375298	broad.mit.edu	37	2	182430845	182430845	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:182430845A>G	ENST00000339098.5	-	4	616	c.617T>C	c.(616-618)aTg>aCg	p.M206T	CERKL_ENST00000410087.3_Missense_Mutation_p.M206T|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374969.2_Intron|CERKL_ENST00000409440.3_Missense_Mutation_p.M162T|CERKL_ENST00000374970.2_Intron			Q49MI3	CERKL_HUMAN	ceramide kinase-like	206	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTCATATTCCATTACTATTAA	0.308																																						uc002unx.2		NaN																	0				ovary(2)|kidney(1)|skin(1)	4						c.(616-618)ATG>ACG		ceramide kinase-like isoform b							68.0	64.0	66.0					2																	182430845		1831	4096	5927	SO:0001583	missense	375298				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity	g.chr2:182430845A>G	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.617T>C	2.37:g.182430845A>G	ENSP00000341159:p.Met206Thr					CERKL_uc002uny.2_Missense_Mutation_p.M206T|CERKL_uc010zfm.1_Missense_Mutation_p.M162T|CERKL_uc002unz.2_Intron|CERKL_uc002uoa.2_Intron|CERKL_uc002uob.2_Intron|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_Intron|CERKL_uc002uod.1_Missense_Mutation_p.M1T|CERKL_uc002uoe.2_Missense_Mutation_p.M206T	p.M206T	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		4	718	-			206			DAGKc.		B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	c.617T>C	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	A	0.067	-1.211172	0.01555	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000339098	T;T;T	0.14516	2.5;3.11;2.5	5.87	4.07	0.47477	Diacylglycerol kinase, catalytic domain (2);	0.053378	0.85682	N	0.000000	T	0.01320	0.0043	N	0.00002	-3.585	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.47209	-0.9135	10	0.02654	T	1	.	12.3085	0.54915	0.1391:0.0:0.8609:0.0	.	162;206;206	B4DEY1;Q49MI3-2;Q49MI3	.;.;CERKL_HUMAN	T	206;162;206	ENSP00000386725:M206T;ENSP00000387080:M162T;ENSP00000341159:M206T	ENSP00000341159:M206T	M	-	2	0	CERKL	182139090	1.000000	0.71417	0.793000	0.32043	0.769000	0.43574	5.817000	0.69229	0.924000	0.37069	-0.242000	0.12053	ATG		0.308	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1				46	9	0	0	0	1	0	46	9		
ASNSD1	54529	broad.mit.edu	37	2	190532598	190532598	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:190532598G>C	ENST00000260952.4	+	5	1986	c.1573G>C	c.(1573-1575)Gaa>Caa	p.E525Q	ASNSD1_ENST00000607062.1_Missense_Mutation_p.E44Q	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	525	Asparagine synthetase.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AATAATGATGGAACTGGGTCG	0.413																																						uc002uqt.2		NaN																	0				ovary(2)|skin(1)	3						c.(1573-1575)GAA>CAA		asparagine synthetase domain containing 1							129.0	133.0	132.0					2																	190532598		2203	4300	6503	SO:0001583	missense	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190532598G>C	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.1573G>C	2.37:g.190532598G>C	ENSP00000260952:p.Glu525Gln						p.E525Q	NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		5	2007	+			525			Asparagine synthetase.		D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	c.1573G>C	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457444	0.84317	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.48522	0.81;0.81	5.54	5.54	0.83059	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.000000	0.85682	D	0.000000	T	0.68393	0.2996	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69628	-0.5094	10	0.66056	D	0.02	-11.5772	19.4712	0.94963	0.0:0.0:1.0:0.0	.	525	Q9NWL6	ASND1_HUMAN	Q	525	ENSP00000260952:E525Q;ENSP00000406790:E525Q	ENSP00000260952:E525Q	E	+	1	0	ASNSD1	190240843	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.597000	0.87782	0.561000	0.74099	GAA		0.413	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3		NM_019048		65	12	0	0	0	1	0	65	12		
CLK1	1195	broad.mit.edu	37	2	201718103	201718103	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:201718103C>T	ENST00000321356.4	-	13	1516	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N	CLK1_ENST00000409769.2_Missense_Mutation_p.D284N|CLK1_ENST00000434813.2_Missense_Mutation_p.D503N	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	461	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTGGCTGGATCATACTCCAAC	0.368																																						uc002uwe.2		NaN																	0				pancreas(2)	2						c.(1381-1383)GAT>AAT		CDC-like kinase 1 isoform 1							87.0	85.0	86.0					2																	201718103		2203	4300	6503	SO:0001583	missense	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201718103C>T	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.1381G>A	2.37:g.201718103C>T	ENSP00000326830:p.Asp461Asn					CLK1_uc002uwd.2_Missense_Mutation_p.D284N|CLK1_uc010zhi.1_Missense_Mutation_p.D503N|CLK1_uc002uwf.2_Missense_Mutation_p.D235N|CLK1_uc002uwg.2_Missense_Mutation_p.D310N|CLK1_uc010fsv.2_RNA	p.D461N	NM_004071	NP_004062	P49759	CLK1_HUMAN			13	1562	-			461			Protein kinase.		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	c.1381G>A	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730466	0.89390	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.24350	1.86;1.86;1.86	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048700	0.85682	D	0.000000	T	0.45955	0.1368	L	0.45137	1.4	0.58432	D	0.999996	D;P;P;D	0.89917	0.969;0.775;0.926;1.0	P;P;P;D	0.83275	0.863;0.79;0.863;0.996	T	0.43426	-0.9392	10	0.87932	D	0	.	18.7374	0.91761	0.0:1.0:0.0:0.0	.	503;431;461;284	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	N	461;431;284;503	ENSP00000326830:D461N;ENSP00000386358:D284N;ENSP00000394734:D503N	ENSP00000326830:D461N	D	-	1	0	CLK1	201426348	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	7.776000	0.85560	2.508000	0.84585	0.462000	0.41574	GAT		0.368	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2				35	11	0	0	0	1	0	35	11		
CCDC108	255101	broad.mit.edu	37	2	219900268	219900268	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:219900268C>G	ENST00000341552.5	-	5	559	c.476G>C	c.(475-477)gGa>gCa	p.G159A	CCDC108_ENST00000295729.2_Missense_Mutation_p.G94A|CCDC108_ENST00000409865.3_Missense_Mutation_p.G148A|CCDC108_ENST00000410037.1_Missense_Mutation_p.G94A|CCDC108_ENST00000324264.6_Missense_Mutation_p.G94A|CCDC108_ENST00000453220.1_Missense_Mutation_p.G159A|CCDC108_ENST00000441968.1_Missense_Mutation_p.G159A	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	159						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCTCCTTTCCTAGCTCCCA	0.502																																						uc002vjl.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(475-477)GGA>GCA		coiled-coil domain containing 108 isoform 1							186.0	173.0	178.0					2																	219900268		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219900268C>G	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.476G>C	2.37:g.219900268C>G	ENSP00000340776:p.Gly159Ala					CCDC108_uc010zkp.1_Missense_Mutation_p.G148A|CCDC108_uc010zkq.1_Missense_Mutation_p.G94A|CCDC108_uc002vjn.2_Missense_Mutation_p.G94A	p.G159A	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	560	-		Renal(207;0.0915)	159					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.476G>C	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481817	0.84747	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164;ENST00000457968;ENST00000436631;ENST00000295729;ENST00000324264;ENST00000458526	T;T;T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.39	5.39	0.77823	.	0.000000	0.45606	D	0.000359	T	0.60792	0.2296	M	0.80746	2.51	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.65602	-0.6128	10	0.87932	D	0	-28.8131	19.1385	0.93438	0.0:1.0:0.0:0.0	.	148;94;159	E9PG25;E9PCR1;Q6ZU64	.;.;CC108_HUMAN	A	159;159;159;148;94;93;148;94;94;94;94	ENSP00000340776:G159A;ENSP00000413377:G159A;ENSP00000409117:G159A;ENSP00000386945:G148A;ENSP00000386258:G94A;ENSP00000393483:G148A;ENSP00000396836:G94A;ENSP00000295729:G94A;ENSP00000313807:G94A;ENSP00000413746:G94A	ENSP00000295729:G94A	G	-	2	0	CCDC108	219608512	0.998000	0.40836	0.579000	0.28588	0.853000	0.48598	5.739000	0.68622	2.529000	0.85273	0.561000	0.74099	GGA		0.502	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4		NM_194302		77	26	0	0	0	1	0	77	26		
ALPI	248	broad.mit.edu	37	2	233321358	233321358	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:233321358G>C	ENST00000295463.3	+	3	330	c.253G>C	c.(253-255)Gag>Cag	p.E85Q		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	85					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACTGGGGCCTGAGACGCCCCT	0.607																																						uc002vst.3		NaN																	0				central_nervous_system(1)	1						c.(253-255)GAG>CAG		intestinal alkaline phosphatase precursor							37.0	37.0	37.0					2																	233321358		2203	4298	6501	SO:0001583	missense	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233321358G>C	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.253G>C	2.37:g.233321358G>C	ENSP00000295463:p.Glu85Gln					ALPI_uc002vsu.3_5'UTR	p.E85Q	NM_001631	NP_001622	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	3	330	+		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)	85					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	c.253G>C	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	g	23.6	4.434026	0.83776	.	.	ENSG00000163295	ENST00000295463	D	0.97209	-4.29	5.7	5.7	0.88788	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.101545	0.64402	D	0.000003	D	0.98848	0.9611	M	0.92691	3.335	0.58432	D	0.999997	D	0.89917	1.0	D	0.79108	0.992	D	0.99478	1.0947	10	0.87932	D	0	.	18.8019	0.92022	0.0:0.0:1.0:0.0	.	85	P09923	PPBI_HUMAN	Q	85	ENSP00000295463:E85Q	ENSP00000295463:E85Q	E	+	1	0	ALPI	233029602	1.000000	0.71417	0.992000	0.48379	0.517000	0.34286	9.055000	0.93873	2.861000	0.98227	0.655000	0.94253	GAG		0.607	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2		NM_001631		13	1	0	0	0	1	0	13	1		
AGAP1	116987	broad.mit.edu	37	2	236957880	236957880	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:236957880A>G	ENST00000304032.8	+	16	2649	c.2069A>G	c.(2068-2070)gAa>gGa	p.E690G	AGAP1_ENST00000336665.5_Missense_Mutation_p.E637G|AGAP1_ENST00000428334.2_Missense_Mutation_p.E529G|AGAP1_ENST00000409538.1_Missense_Mutation_p.E902G	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	690	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGCGTCTGGGAAGAGAGCAGC	0.567																																						uc002vvs.2		NaN																	0				ovary(2)|skin(1)	3						c.(2068-2070)GAA>GGA		centaurin, gamma 2 isoform 1							70.0	72.0	71.0					2																	236957880		2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236957880A>G	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.2069A>G	2.37:g.236957880A>G	ENSP00000307634:p.Glu690Gly					AGAP1_uc002vvt.2_Missense_Mutation_p.E637G	p.E690G	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN			16	2664	+			690			Arf-GAP.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.2069A>G	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	A	33	5.271164	0.95429	.	.	ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.80747	0.4682	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.994;0.969	D	0.88139	0.2843	10	0.87932	D	0	.	16.167	0.81768	1.0:0.0:0.0:0.0	.	637;690	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	G	690;637;902;529	ENSP00000307634:E690G;ENSP00000338378:E637G;ENSP00000386897:E902G;ENSP00000411824:E529G	ENSP00000307634:E690G	E	+	2	0	AGAP1	236622619	1.000000	0.71417	0.983000	0.44433	0.968000	0.65278	9.202000	0.95026	2.210000	0.71456	0.533000	0.62120	GAA		0.567	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2		NM_014914		45	11	0	0	0	1	0	45	11		
CSRP2BP	57325	broad.mit.edu	37	20	18123337	18123337	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:18123337C>G	ENST00000435364.3	+	1	374	c.33C>G	c.(31-33)atC>atG	p.I11M	CSRP2BP_ENST00000489634.2_5'Flank|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.I11M|PET117_ENST00000432901.3_3'UTR	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	11					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GTAGTCTGATCAGTCGGCATG	0.527																																						uc002wqj.2		NaN																	0				lung(3)|ovary(2)|skin(1)	6						c.(31-33)ATC>ATG		CSRP2 binding protein							108.0	81.0	90.0					20																	18123337		2203	4300	6503	SO:0001583	missense	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18123337C>G	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.33C>G	20.37:g.18123337C>G	ENSP00000392318:p.Ile11Met					CSRP2BP_uc002wqk.2_5'Flank	p.I11M	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN			2	655	+			11					A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	ENST00000435364.3	37	c.33C>G	CCDS13133.1	.	.	.	.	.	.	.	.	.	.	C	7.367	0.626098	0.14257	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000464792;ENST00000435364	T;T;T	0.15256	2.44;2.44;2.44	5.44	-9.21	0.00678	.	0.345212	0.31123	N	0.008218	T	0.04452	0.0122	N	0.08118	0	0.58432	D	0.999996	B	0.06786	0.001	B	0.04013	0.001	T	0.34700	-0.9818	10	0.19590	T	0.45	-32.2704	4.8366	0.13468	0.1068:0.4705:0.2403:0.1823	.	11	Q9H8E8	CSR2B_HUMAN	M	11	ENSP00000278816:I11M;ENSP00000366909:I11M;ENSP00000392318:I11M	ENSP00000278816:I11M	I	+	3	3	CSRP2BP	18071337	0.337000	0.24766	0.017000	0.16124	0.723000	0.41478	-0.586000	0.05787	-1.715000	0.01389	-1.461000	0.01025	ATC		0.527	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5		NM_020536		22	25	0	0	0	1	0	22	25		
ASXL1	171023	broad.mit.edu	37	20	30956842	30956842	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:30956842C>G	ENST00000375687.4	+	4	592	c.168C>G	c.(166-168)ctC>ctG	p.L56L	ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000542461.1_Silent_p.L55L|ASXL1_ENST00000375689.1_Silent_p.L52L|ASXL1_ENST00000306058.5_Silent_p.L51L	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	56					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCGCATGCCTCAATGCTATGC	0.443			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2		NaN		Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		0				haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(166-168)CTC>CTG		additional sex combs like 1 isoform 1							137.0	122.0	127.0					20																	30956842		2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:30956842C>G	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.168C>G	20.37:g.30956842C>G						ASXL1_uc002wxr.1_RNA|ASXL1_uc002wxt.2_RNA|ASXL1_uc010geb.2_5'UTR	p.L56L	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			3	594	+			56					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.168C>G	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	C	9.330	1.060306	0.19987	.	.	ENSG00000171456	ENST00000497249	.	.	.	4.92	0.466	0.16716	.	.	.	.	.	T	0.45657	0.1353	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27739	-1.0065	4	.	.	.	-11.5743	4.2308	0.10602	0.0:0.4479:0.2366:0.3155	.	.	.	.	E	45	.	.	Q	+	1	0	ASXL1	30420503	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.182000	0.32029	0.328000	0.23435	0.643000	0.83706	CAA		0.443	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2		NM_015338		59	73	0	0	0	1	0	59	73		
EDEM2	55741	broad.mit.edu	37	20	33703305	33703305	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:33703305G>A	ENST00000374492.3	-	11	1773	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L	EDEM2_ENST00000541621.1_Silent_p.L335L|EDEM2_ENST00000542871.1_Silent_p.L280L|SNORD56_ENST00000364281.1_RNA|EDEM2_ENST00000374491.3_Silent_p.L519L	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	556			L -> F (in dbSNP:rs1052056).		cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGGGGCAGCTGAGAAGTGGGA	0.488																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	uc002xbo.2		NaN																	0					0						c.(1666-1668)CTC>CTT		ER degradation enhancer, mannosidase alpha-like							200.0	199.0	199.0					20																	33703305		2203	4300	6503	SO:0001819	synonymous_variant	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33703305G>A	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.1668C>T	20.37:g.33703305G>A						EDEM2_uc010zus.1_Silent_p.L335L|EDEM2_uc002xbq.2_Silent_p.L519L|EDEM2_uc010zut.1_Silent_p.L515L|EDEM2_uc002xbp.2_Silent_p.L404L|EDEM2_uc002xbn.2_Silent_p.L404L|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Silent_p.L280L	p.L556L	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		11	1768	-			556					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Silent	SNP	ENST00000374492.3	37	c.1668C>T	CCDS13247.1																																																																																				0.488	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2		NM_018217		131	193	0	0	0	1	0	131	193		
CEP250	11190	broad.mit.edu	37	20	34091303	34091303	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:34091303G>C	ENST00000397527.1	+	30	5826	c.5106G>C	c.(5104-5106)caG>caC	p.Q1702H	CEP250_ENST00000342580.4_Missense_Mutation_p.Q1646H	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1702	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TGACCACTCAGAGGCAGCTGA	0.587																																						uc002xcm.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(5104-5106)CAG>CAC		centrosomal protein 2							89.0	91.0	91.0					20																	34091303		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34091303G>C	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.5106G>C	20.37:g.34091303G>C	ENSP00000380661:p.Gln1702His					CEP250_uc010zve.1_Missense_Mutation_p.Q1070H	p.Q1702H	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		31	5777	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1702			Gln/Glu-rich.|Potential.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.5106G>C	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759808	0.31137	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.58060	2.51;2.49;0.36	4.51	2.45	0.29901	.	0.228700	0.31233	N	0.008008	T	0.53514	0.1801	L	0.32530	0.975	0.25468	N	0.987857	D	0.89917	1.0	D	0.85130	0.997	T	0.36261	-0.9755	10	0.56958	D	0.05	.	3.0957	0.06308	0.2745:0.0:0.5175:0.208	.	1702	Q9BV73	CP250_HUMAN	H	1702;1646;190	ENSP00000380661:Q1702H;ENSP00000341541:Q1646H;ENSP00000395992:Q190H	ENSP00000341541:Q1646H	Q	+	3	2	CEP250	33554717	0.992000	0.36948	0.976000	0.42696	0.970000	0.65996	1.282000	0.33226	1.085000	0.41206	0.455000	0.32223	CAG		0.587	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7		NM_007186		66	93	0	0	0	1	0	66	93		
SLA2	84174	broad.mit.edu	37	20	35243657	35243657	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:35243657G>C	ENST00000262866.4	-	6	925	c.503C>G	c.(502-504)tCa>tGa	p.S168*	SLA2_ENST00000360672.2_Nonsense_Mutation_p.S168*	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	168	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				antigen receptor-mediated signaling pathway (GO:0050851)|B cell mediated immunity (GO:0019724)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of B cell activation (GO:0050869)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of signal transduction (GO:0009967)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGCCTGGAGTGAGGGGAAGGT	0.617																																					Ovarian(59;720 1165 26994 46188 51693)	uc002xfv.2		NaN																	0					0						c.(502-504)TCA>TGA		Src-like-adaptor 2 isoform a							145.0	105.0	119.0					20																	35243657		2203	4300	6503	SO:0001587	stop_gained	84174				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity	g.chr20:35243657G>C	AF326353	CCDS13282.1, CCDS13283.1	20q11.23	2013-02-14			ENSG00000101082	ENSG00000101082		"""SH2 domain containing"""	17329	protein-coding gene	gene with protein product		606577		C20orf156		11696592	Standard	NM_032214		Approved	FLJ21992, SLAP-2	uc002xfv.3	Q9H6Q3	OTTHUMG00000032393	ENST00000262866.4:c.503C>G	20.37:g.35243657G>C	ENSP00000262866:p.Ser168*					SLA2_uc002xfu.2_Nonsense_Mutation_p.S168*	p.S168*	NM_032214	NP_115590	Q9H6Q3	SLAP2_HUMAN			6	865	-	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)	168			SH2.		A8K648|E1P5U1|E1P5U2|Q5TH27|Q5TH28|Q8WY18|Q96QI4|Q9H135	Nonsense_Mutation	SNP	ENST00000262866.4	37	c.503C>G	CCDS13282.1	.	.	.	.	.	.	.	.	.	.	G	34	5.318327	0.95682	.	.	ENSG00000101082	ENST00000262866;ENST00000360672	.	.	.	6.17	6.17	0.99709	.	0.286385	0.34178	N	0.004186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.6834	18.3732	0.90420	0.0:0.0:1.0:0.0	.	.	.	.	X	168	.	ENSP00000262866:S168X	S	-	2	0	SLA2	34677071	0.996000	0.38824	0.977000	0.42913	0.922000	0.55478	4.169000	0.58223	2.941000	0.99782	0.655000	0.94253	TCA		0.617	SLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079037.2		NM_175077		32	71	0	0	0	1	0	32	71		
BPI	671	broad.mit.edu	37	20	36948673	36948673	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:36948673G>T	ENST00000262865.4	+	7	854	c.765G>T	c.(763-765)atG>atT	p.M255I	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	255					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)	p.M255I(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				ATGTACAGATGAAGGTGAGGC	0.498																																						uc002xib.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)	4						c.(763-765)ATG>ATT		bactericidal/permeability-increasing protein							80.0	64.0	69.0					20																	36948673		2203	4300	6503	SO:0001583	missense	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36948673G>T	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.765G>T	20.37:g.36948673G>T	ENSP00000262865:p.Met255Ile						p.M255I	NM_001725	NP_001716	P17213	BPI_HUMAN			7	827	+		Myeloproliferative disorder(115;0.00878)	255					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	c.765G>T	CCDS13303.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.689|7.689	0.690593|0.690593	0.15039|0.15039	.|.	.|.	ENSG00000101425|ENSG00000101425	ENST00000262865|ENST00000417318	T|.	0.09073|.	3.02|.	3.94|3.94	2.97|2.97	0.34412|0.34412	Lipid-binding serum glycoprotein, N-terminal (1);Lipid-binding serum glycoprotein, C-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);|.	0.303658|.	0.22646|.	N|.	0.057387|.	T|.	0.24005|.	0.0581|.	N|N	0.22421|0.22421	0.69|0.69	0.24160|0.24160	N|N	0.995664|0.995664	B|.	0.23990|.	0.095|.	B|.	0.23419|.	0.046|.	T|.	0.18681|.	-1.0329|.	10|.	0.45353|.	T|.	0.12|.	-1.7322|-1.7322	5.7083|5.7083	0.17921|0.17921	0.252:0.0:0.748:0.0|0.252:0.0:0.748:0.0	.|.	255|.	P17213|.	BPI_HUMAN|.	I|L	255|81	ENSP00000262865:M255I|.	ENSP00000262865:M255I|.	M|X	+|+	3|2	0|2	BPI|BPI	36382087|36382087	1.000000|1.000000	0.71417|0.71417	0.907000|0.907000	0.35723|0.35723	0.174000|0.174000	0.22865|0.22865	1.494000|1.494000	0.35616|0.35616	0.961000|0.961000	0.38030|0.38030	0.313000|0.313000	0.20887|0.20887	ATG|TGA		0.498	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2		NM_001725		30	37	1	0	3.86903e-22	1	4.05421e-22	30	37		
SLC32A1	140679	broad.mit.edu	37	20	37356882	37356882	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:37356882C>A	ENST00000217420.1	+	2	1441	c.1178C>A	c.(1177-1179)tCc>tAc	p.S393Y		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	393					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)	p.S393C(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCGCTGTTGTCCTATCCTCTG	0.627																																						uc002xjc.2		NaN																	1	Substitution - Missense(1)		breast(1)		0						c.(1177-1179)TCC>TAC		solute carrier family 32, member 1	Glycine(DB00145)						80.0	78.0	79.0					20																	37356882		2203	4300	6503	SO:0001583	missense	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356882C>A	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1178C>A	20.37:g.37356882C>A	ENSP00000217420:p.Ser393Tyr						p.S393Y	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			2	1441	+		Myeloproliferative disorder(115;0.00878)	393			Helical; (Potential).		Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	c.1178C>A	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773563	0.69992	.	.	ENSG00000101438	ENST00000217420	T	0.03242	4.0	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.19765	0.0475	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00893	-1.1524	10	0.87932	D	0	-30.6829	14.9208	0.70835	0.0:1.0:0.0:0.0	.	393	Q9H598	VIAAT_HUMAN	Y	393	ENSP00000217420:S393Y	ENSP00000217420:S393Y	S	+	2	0	SLC32A1	36790296	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.756000	0.85195	2.202000	0.70862	0.563000	0.77884	TCC		0.627	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1		NM_080552		21	49	1	0	2.44723e-14	1	2.52127e-14	21	49		
SERINC3	10955	broad.mit.edu	37	20	43129838	43129838	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:43129838C>G	ENST00000342374.4	-	9	1316	c.1159G>C	c.(1159-1161)Gat>Cat	p.D387H	SERINC3_ENST00000541235.1_Missense_Mutation_p.D332H|SERINC3_ENST00000255175.1_Missense_Mutation_p.D387H	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	387					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GGCTGTCCATCTTCTTCATCA	0.517																																						uc002xme.2		NaN																	0				skin(3)	3						c.(1159-1161)GAT>CAT		tumor differentially expressed protein 1							163.0	135.0	144.0					20																	43129838		2203	4300	6503	SO:0001583	missense	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43129838C>G	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.1159G>C	20.37:g.43129838C>G	ENSP00000340243:p.Asp387His					SERINC3_uc002xmf.1_Missense_Mutation_p.D387H|SERINC3_uc010ggs.1_Missense_Mutation_p.D380H|SERINC3_uc010zwp.1_Missense_Mutation_p.D332H	p.D387H	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		9	1293	-		Myeloproliferative disorder(115;0.0122)	387			Extracellular (Potential).		B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	c.1159G>C	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142918	0.77888	.	.	ENSG00000132824	ENST00000411544;ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.4	5.4	0.78164	.	0.429029	0.28730	N	0.014339	T	0.47116	0.1428	M	0.83953	2.67	0.80722	D	1	P;D	0.62365	0.578;0.991	B;D	0.66979	0.395;0.948	T	0.47598	-0.9105	10	0.66056	D	0.02	.	19.3711	0.94488	0.0:1.0:0.0:0.0	.	387;387	Q53GK8;Q13530	.;SERC3_HUMAN	H	126;387;387;354;332	ENSP00000414197:D126H;ENSP00000255175:D387H;ENSP00000340243:D387H;ENSP00000440966:D332H	ENSP00000255175:D387H	D	-	1	0	SERINC3	42563252	0.367000	0.25023	0.992000	0.48379	0.382000	0.30200	2.887000	0.48586	2.814000	0.96858	0.563000	0.77884	GAT		0.517	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3		NM_006811		70	101	0	0	0	1	0	70	101		
PCIF1	63935	broad.mit.edu	37	20	44571881	44571881	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:44571881C>T	ENST00000372409.3	+	8	1183	c.819C>T	c.(817-819)atC>atT	p.I273I		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	273					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						ACATTCCTATCAGGTACAGCT	0.517																																						uc002xqs.2		NaN																	0				skin(1)	1						c.(817-819)ATC>ATT		phosphorylated CTD interacting factor 1							105.0	89.0	94.0					20																	44571881		2203	4300	6503	SO:0001819	synonymous_variant	63935					nucleus		g.chr20:44571881C>T	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.819C>T	20.37:g.44571881C>T						PCIF1_uc002xqt.2_5'Flank	p.I273I	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN			8	1133	+			273					E1P5P1|Q54AB9|Q9NT85	Silent	SNP	ENST00000372409.3	37	c.819C>T	CCDS13388.1																																																																																				0.517	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1		NM_022104		57	85	0	0	0	1	0	57	85		
ZNF512B	57473	broad.mit.edu	37	20	62659061	62659061	+	Intron	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr20:62659061C>T	ENST00000450537.1	-	1	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Silent_p.L731L			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AAAGTCTCGTCTGAAGAACCC	0.612																																						uc002yho.2		NaN																	0				ovary(2)	2						c.(2311-2313)CTG>TTG		PRP6 pre-mRNA processing factor 6 homolog							87.0	94.0	91.0					20																	62659061		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62659061C>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+20996G>A	20.37:g.62659061C>T						PRPF6_uc002yhp.2_Silent_p.L731L	p.L771L	NM_012469	NP_036601	O94906	PRP6_HUMAN			17	2479	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		771					Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	c.2311C>T	CCDS13548.1																																																																																				0.612	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1		NM_020713		96	88	0	0	0	1	0	96	88		
PRDM15	63977	broad.mit.edu	37	21	43222884	43222884	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr21:43222884C>G	ENST00000269844.3	-	30	4139	c.4029G>C	c.(4027-4029)caG>caC	p.Q1343H	PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000538201.1_Missense_Mutation_p.Q997H|PRDM15_ENST00000447207.2_Missense_Mutation_p.Q977H|PRDM15_ENST00000422911.1_Missense_Mutation_p.Q1034H|PRDM15_ENST00000398548.1_Missense_Mutation_p.Q1014H	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1343					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						GCTGAATGCTCTGTACTGCGG	0.527																																						uc002yzq.1		NaN																	0					0						c.(4027-4029)CAG>CAC		PR domain containing 15 isoform 1							183.0	173.0	177.0					21																	43222884		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43222884C>G	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.4029G>C	21.37:g.43222884C>G	ENSP00000269844:p.Gln1343His					PRDM15_uc002yzo.2_Missense_Mutation_p.Q1014H|PRDM15_uc002yzp.2_Missense_Mutation_p.Q1034H|PRDM15_uc002yzr.1_Missense_Mutation_p.Q1034H	p.Q1343H	NM_022115	NP_071398	P57071	PRD15_HUMAN			30	4140	-			1343					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.4029G>C	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	17.02	3.282113	0.59867	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	4.92	4.02	0.46733	.	.	.	.	.	T	0.46190	0.1380	N	0.19112	0.55	0.44789	D	0.997794	D;D;D	0.71674	0.998;0.966;0.966	D;P;P	0.65573	0.936;0.641;0.751	T	0.49725	-0.8909	9	0.66056	D	0.02	-38.4636	12.7218	0.57146	0.0:0.9181:0.0:0.0819	.	1343;1034;1014	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	H	1034;1014;997;977;1343	ENSP00000408592:Q1034H;ENSP00000381556:Q1014H;ENSP00000444044:Q997H;ENSP00000390245:Q977H;ENSP00000269844:Q1343H	ENSP00000269844:Q1343H	Q	-	3	2	PRDM15	42095953	1.000000	0.71417	1.000000	0.80357	0.372000	0.29890	2.521000	0.45563	2.270000	0.75569	0.486000	0.48141	CAG		0.527	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_022115		116	145	0	0	0	1	0	116	145		
KRTAP10-10	353333	broad.mit.edu	37	21	46057969	46057969	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr21:46057969C>T	ENST00000380095.1	+	1	697	c.635C>T	c.(634-636)tCt>tTt	p.S212F	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	212	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TGCGGTGCCTCTGCCTCCTCC	0.697																																						uc002zfq.2		NaN																	0					0						c.(634-636)TCT>TTT		keratin associated protein 10-10							73.0	79.0	77.0					21																	46057969		2203	4300	6503	SO:0001583	missense	353333					keratin filament		g.chr21:46057969C>T	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.635C>T	21.37:g.46057969C>T	ENSP00000369438:p.Ser212Phe					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.S212F	NM_181688	NP_859016	P60014	KR10A_HUMAN			1	697	+			212			15 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000380095.1	37	c.635C>T	CCDS33585.1	.	.	.	.	.	.	.	.	.	.	c	3.006	-0.204989	0.06180	.	.	ENSG00000221859	ENST00000380095	T	0.01145	5.27	1.95	1.95	0.26073	.	.	.	.	.	T	0.01387	0.0045	L	0.34521	1.04	0.09310	N	1	P	0.43973	0.823	B	0.42738	0.396	T	0.52866	-0.8518	9	0.62326	D	0.03	.	7.4718	0.27353	0.0:1.0:0.0:0.0	.	212	P60014	KR10A_HUMAN	F	212	ENSP00000369438:S212F	ENSP00000369438:S212F	S	+	2	0	KRTAP10-10	44882397	0.001000	0.12720	0.044000	0.18714	0.002000	0.02628	0.486000	0.22340	0.755000	0.32990	0.313000	0.20887	TCT		0.697	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1		NM_181688		78	85	0	0	0	1	0	78	85		
UFD1L	7353	broad.mit.edu	37	22	19459219	19459219	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:19459219G>C	ENST00000263202.10	-	4	411	c.282C>G	c.(280-282)ctC>ctG	p.L94L	UFD1L_ENST00000360834.4_Silent_p.L83L|UFD1L_ENST00000399523.1_Silent_p.L94L|UFD1L_ENST00000484101.1_5'UTR	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	94					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					CCCAGTGTGGGAGGTAGCAGA	0.572																																						uc002zpm.2		NaN																	0					0						c.(280-282)CTC>CTG		ubiquitin fusion degradation 1-like isoform A							66.0	56.0	60.0					22																	19459219		2203	4300	6503	SO:0001819	synonymous_variant	7353				skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity	g.chr22:19459219G>C	AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"""ubiquitin fusion degradation 1-like"""			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.282C>G	22.37:g.19459219G>C						UFD1L_uc002zpo.2_Silent_p.L94L|UFD1L_uc011agy.1_Silent_p.L94L|UFD1L_uc002zpp.2_Silent_p.L47L|UFD1L_uc010grq.2_Silent_p.L47L	p.L94L	NM_005659	NP_005650	Q92890	UFD1_HUMAN			4	412	-	Colorectal(54;0.0993)		94					A8MW31|Q9Y5N0	Silent	SNP	ENST00000263202.10	37	c.282C>G	CCDS13761.1																																																																																				0.572	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316460.6				26	46	0	0	0	1	0	26	46		
DERL3	91319	broad.mit.edu	37	22	24179997	24179997	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:24179997G>A	ENST00000318109.7	-	5	388	c.372C>T	c.(370-372)ctC>ctT	p.L124L	DERL3_ENST00000406855.3_Silent_p.L124L|DERL3_ENST00000404056.1_Intron|DERL3_ENST00000476077.1_Silent_p.L124L|DERL3_ENST00000464023.1_5'Flank			Q96Q80	DERL3_HUMAN	derlin 3	124					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)				ovary(1)|prostate(1)|skin(1)	3						GCATGGCCATGAGGGCCTGGC	0.677																																						uc002zyh.2		NaN																	0				ovary(1)	1						c.(370-372)CTC>CTT		derlin 3 isoform 2							38.0	39.0	39.0					22																	24179997		2201	4300	6501	SO:0001819	synonymous_variant	91319				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding	g.chr22:24179997G>A	AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"""chromosome 22 open reading frame 14"", ""Der1-like domain family, member 3"""	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743	ENST00000318109.7:c.372C>T	22.37:g.24179997G>A						DERL3_uc002zyk.3_Silent_p.L124L|DERL3_uc002zyi.2_Silent_p.L124L|DERL3_uc002zyj.2_Intron	p.L124L	NM_001002862	NP_001002862	Q96Q80	DERL3_HUMAN			5	397	-			124			Lumenal (Potential).		F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	Silent	SNP	ENST00000318109.7	37	c.372C>T	CCDS33615.1																																																																																				0.677	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319905.1		NM_198440		33	51	0	0	0	1	0	33	51		
SPECC1L	23384	broad.mit.edu	37	22	24717865	24717865	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:24717865G>C	ENST00000314328.9	+	5	1202	c.917G>C	c.(916-918)gGa>gCa	p.G306A	SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000437398.1_Missense_Mutation_p.G306A|SPECC1L_ENST00000541492.1_Missense_Mutation_p.G306A|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.G306A	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	306					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						CAGAGCGATGGAGGAGGAACT	0.493																																						uc002zzw.2		NaN																	0					0						c.(916-918)GGA>GCA		cytospin A							115.0	108.0	111.0					22																	24717865		2203	4300	6503	SO:0001583	missense	23384				cell cycle|cell division			g.chr22:24717865G>C	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.917G>C	22.37:g.24717865G>C	ENSP00000325785:p.Gly306Ala					CYTSA_uc002zzv.3_Missense_Mutation_p.G306A|CYTSA_uc011ajq.1_Missense_Mutation_p.G306A	p.G306A	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN			5	1224	+			306					B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	c.917G>C	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798709	0.31777	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492	T;T;T;T	0.59906	0.23;2.72;0.23;3.22	5.14	5.14	0.70334	.	0.305004	0.36268	N	0.002697	T	0.57533	0.2060	L	0.38175	1.15	0.58432	D	0.999999	D;P	0.56035	0.974;0.956	P;P	0.51918	0.684;0.486	T	0.49826	-0.8898	10	0.15066	T	0.55	-25.3337	17.9639	0.89094	0.0:0.0:1.0:0.0	.	306;306	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	A	334;306;306;306;306	ENSP00000393363:G306A;ENSP00000405671:G306A;ENSP00000325785:G306A;ENSP00000439633:G306A	ENSP00000325785:G306A	G	+	2	0	SPECC1L	23047865	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	5.898000	0.69838	2.578000	0.87016	0.313000	0.20887	GGA		0.493	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2		NM_015330		65	123	0	0	0	1	0	65	123		
RNF215	200312	broad.mit.edu	37	22	30780387	30780387	+	Missense_Mutation	SNP	C	C	G	rs370179570		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:30780387C>G	ENST00000382363.3	-	5	759	c.685G>C	c.(685-687)Gat>Cat	p.D229H		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	229						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CCATAGCCATCCTTGGAGAGG	0.602																																						uc003ahp.2		NaN																	0				central_nervous_system(1)	1						c.(685-687)GAT>CAT		ring finger protein 215							120.0	97.0	105.0					22																	30780387		2203	4300	6503	SO:0001583	missense	200312					integral to membrane	zinc ion binding	g.chr22:30780387C>G		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"""RING-type (C3HC4) zinc fingers"""	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.685G>C	22.37:g.30780387C>G	ENSP00000371800:p.Asp229His					RNF215_uc011akw.1_Missense_Mutation_p.D134H	p.D229H	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN			5	685	-			229			Extracellular (Potential).		A6NEL1	Missense_Mutation	SNP	ENST00000382363.3	37	c.685G>C	CCDS33633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.53|13.53	2.264290|2.264290	0.39995|0.39995	.|.	.|.	ENSG00000099999|ENSG00000099999	ENST00000382363|ENST00000215798	T|.	0.44083|.	0.93|.	4.67|4.67	1.42|1.42	0.22433|0.22433	.|.	0.338213|.	0.29868|.	N|.	0.010987|.	T|T	0.35595|0.35595	0.0937|0.0937	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	B|.	0.06786|.	0.001|.	B|.	0.08055|.	0.003|.	T|T	0.04723|0.04723	-1.0931|-1.0931	10|5	0.42905|.	T|.	0.14|.	-12.7178|-12.7178	5.7678|5.7678	0.18237|0.18237	0.0:0.6645:0.1591:0.1764|0.0:0.6645:0.1591:0.1764	.|.	229|.	Q9Y6U7|.	RN215_HUMAN|.	H|A	229|166	ENSP00000371800:D229H|.	ENSP00000371800:D229H|.	D|G	-|-	1|2	0|0	RNF215|RNF215	29110387|29110387	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.882000|0.882000	0.50991|0.50991	3.246000|3.246000	0.51414|0.51414	0.211000|0.211000	0.20683|0.20683	-0.215000|-0.215000	0.12644|0.12644	GAT|GGA		0.602	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1		NM_001017981		52	79	0	0	0	1	0	52	79		
SEC14L2	23541	broad.mit.edu	37	22	30803141	30803141	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:30803141G>C	ENST00000312932.9	+	4	492	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	RP4-539M6.19_ENST00000439838.1_5'Flank|SEC14L2_ENST00000403484.1_Intron|SEC14L2_ENST00000459728.1_3'UTR|SEC14L2_ENST00000402592.3_Intron|SEC14L2_ENST00000405717.3_Missense_Mutation_p.E78Q	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	78	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	GCAGCCTCCAGAGGTGAGCAC	0.473																																						uc003ahr.2		NaN																	0					0						c.(232-234)GAG>CAG		SEC14-like 2 isoform 1	Vitamin E(DB00163)						108.0	97.0	101.0					22																	30803141		2203	4300	6503	SO:0001583	missense	23541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding	g.chr22:30803141G>C	AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"""supernatant protein factor"""	607558	"""SEC14 (S. cerevisiae)-like 2"""	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.232G>C	22.37:g.30803141G>C	ENSP00000316203:p.Glu78Gln					SEC14L2_uc003ahq.2_Missense_Mutation_p.E78Q|SEC14L2_uc011akx.1_Missense_Mutation_p.E24Q|SEC14L2_uc003ahs.2_Intron|SEC14L2_uc011aky.1_Intron|SEC14L2_uc003aht.2_5'Flank|SEC14L2_uc003ahu.3_5'Flank|SEC14L2_uc010gvv.2_5'Flank|SEC14L2_uc010gvw.1_5'Flank|MTP18_uc010gvx.1_5'Flank|MTP18_uc003ahv.1_5'Flank|MTP18_uc010gvy.1_5'Flank	p.E78Q	NM_012429	NP_036561	O76054	S14L2_HUMAN			4	405	+			78			CRAL-TRIO.		B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Missense_Mutation	SNP	ENST00000312932.9	37	c.232G>C	CCDS13876.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.121005	0.77436	.	.	ENSG00000100003	ENST00000312932;ENST00000428195;ENST00000416523;ENST00000405717;ENST00000429917;ENST00000415072	T;T;T;T;T	0.60299	1.74;1.74;0.2;1.74;0.2	4.67	4.67	0.58626	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	M	0.68593	2.085	0.80722	D	1	B;P	0.39157	0.114;0.662	B;B	0.39119	0.198;0.291	T	0.60767	-0.7198	10	0.35671	T	0.21	-5.2605	16.5014	0.84257	0.0:0.0:1.0:0.0	.	78;78	O76054;O76054-4	S14L2_HUMAN;.	Q	78;24;78;78;42;104	ENSP00000316203:E78Q;ENSP00000387781:E24Q;ENSP00000400567:E78Q;ENSP00000385186:E78Q;ENSP00000407857:E42Q	ENSP00000316203:E78Q	E	+	1	0	SEC14L2	29133141	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.335000	0.65929	2.441000	0.82636	0.655000	0.94253	GAG		0.473	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321018.4		NM_012429		30	29	0	0	0	1	0	30	29		
DEPDC5	9681	broad.mit.edu	37	22	32269279	32269279	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:32269279C>G	ENST00000382112.3	+	34	3567	c.3497C>G	c.(3496-3498)tCt>tGt	p.S1166C	DEPDC5_ENST00000400246.1_Missense_Mutation_p.S1175C|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S1153C|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S1097C|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S1144C|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S1175C|DEPDC5_ENST00000400248.2_Missense_Mutation_p.S1144C|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.S1075C|DEPDC5_ENST00000539165.1_5'UTR	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1175					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACCTCATCCTCTACCCTGACA	0.547																																						uc003als.2		NaN																	0				ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(3430-3432)TCT>TGT		DEP domain containing 5 isoform 1							114.0	113.0	113.0					22																	32269279		2058	4216	6274	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32269279C>G	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3497C>G	22.37:g.32269279C>G	ENSP00000371546:p.Ser1166Cys					DEPDC5_uc011als.1_Missense_Mutation_p.S1075C|DEPDC5_uc011alu.1_Missense_Mutation_p.S1175C|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.S1166C|DEPDC5_uc003alu.2_Missense_Mutation_p.S593C|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_3'UTR|DEPDC5_uc003alw.2_Missense_Mutation_p.S442C|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_Missense_Mutation_p.S170C|DEPDC5_uc011aly.1_5'UTR	p.S1144C	NM_014662	NP_055477	O75140	DEPD5_HUMAN			34	3573	+			1144					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.3431C>G	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405616	0.83230	.	.	ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T	0.41758	2.49;2.49;2.49;2.49;0.99;2.49;2.49;2.49	5.37	5.37	0.77165	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.141580	0.49305	D	0.000151	T	0.51058	0.1652	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.67145	0.972;0.987;0.996;0.979;0.972;0.98	P;P;D;P;P;P	0.64144	0.694;0.625;0.922;0.789;0.694;0.62	T	0.50947	-0.8767	10	0.52906	T	0.07	.	16.2748	0.82638	0.0:1.0:0.0:0.0	.	1175;1075;561;1153;1166;1144	B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.;.;.;.;.;DEPD5_HUMAN	C	1075;1153;1144;1075;1175;1097;1166;1175;1144	ENSP00000440210:S1075C;ENSP00000266091:S1153C;ENSP00000383108:S1144C;ENSP00000383105:S1175C;ENSP00000371539:S1097C;ENSP00000371546:S1166C;ENSP00000371545:S1175C;ENSP00000383107:S1144C	ENSP00000266091:S1153C	S	+	2	0	DEPDC5	30599279	1.000000	0.71417	0.994000	0.49952	0.728000	0.41692	6.192000	0.72069	2.517000	0.84864	0.655000	0.94253	TCT		0.547	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1		NM_014662		67	117	0	0	0	1	0	67	117		
EP300	2033	broad.mit.edu	37	22	41489048	41489048	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:41489048A>C	ENST00000263253.7	+	1	1259	c.40A>C	c.(40-42)Aag>Cag	p.K14Q	MIR1281_ENST00000408233.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	14	Interaction with ALX1.|Interaction with RORA.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GCCTTCAGCCAAGCGGCCTAA	0.547			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(40-42)AAG>CAG		E1A binding protein p300							68.0	82.0	77.0					22																	41489048		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41489048A>C	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.40A>C	22.37:g.41489048A>C	ENSP00000263253:p.Lys14Gln						p.K14Q	NM_001429	NP_001420	Q09472	EP300_HUMAN			1	435	+			14			Interaction with ALX1.|Nuclear localization signal (Potential).		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.40A>C	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.013689	0.93404	.	.	ENSG00000100393	ENST00000263253	D	0.90955	-2.76	4.7	4.7	0.59300	.	0.168406	0.26939	N	0.021738	D	0.93697	0.7986	M	0.64170	1.965	0.45318	D	0.998312	D	0.76494	0.999	D	0.71184	0.972	D	0.94187	0.7437	10	0.87932	D	0	.	12.8873	0.58051	1.0:0.0:0.0:0.0	.	14	Q09472	EP300_HUMAN	Q	14	ENSP00000263253:K14Q	ENSP00000263253:K14Q	K	+	1	0	EP300	39818994	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.085000	0.89518	1.982000	0.57802	0.482000	0.46254	AAG		0.547	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		128	151	0	0	0	1	0	128	151		
TCF20	6942	broad.mit.edu	37	22	42609617	42609617	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:42609617C>T	ENST00000359486.3	-	1	1831	c.1695G>A	c.(1693-1695)caG>caA	p.Q565Q	TCF20_ENST00000335626.4_Silent_p.Q565Q	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGGGTTCATTCTGAGCACCTT	0.582																																						uc003bcj.1		NaN																	0				ovary(4)|skin(1)	5						c.(1693-1695)CAG>CAA		transcription factor 20 isoform 1							60.0	56.0	57.0					22																	42609617		2203	4300	6503	SO:0001819	synonymous_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42609617C>T	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1695G>A	22.37:g.42609617C>T						TCF20_uc003bck.1_Silent_p.Q565Q|TCF20_uc003bnt.2_Silent_p.Q565Q	p.Q565Q	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	1829	-			565					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	ENST00000359486.3	37	c.1695G>A	CCDS14033.1																																																																																				0.582	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1		NM_181492		41	54	0	0	0	1	0	41	54		
TUBGCP6	85378	broad.mit.edu	37	22	50682166	50682166	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:50682166G>C	ENST00000248846.5	-	1	827	c.723C>G	c.(721-723)ctC>ctG	p.L241L	TUBGCP6_ENST00000439308.2_Silent_p.L241L|MAPK12_ENST00000497036.1_5'Flank|HDAC10_ENST00000498366.1_5'Flank			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	241					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCAGCCCAGAGAGGTCCGCAT	0.537																																						uc003bkb.1		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(721-723)CTC>CTG		tubulin, gamma complex associated protein 6							44.0	48.0	47.0					22																	50682166		2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50682166G>C	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.723C>G	22.37:g.50682166G>C						TUBGCP6_uc010har.1_Silent_p.L241L|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hau.1_Silent_p.L241L	p.L241L	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	1235	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	241					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.723C>G	CCDS14087.1																																																																																				0.537	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3		NM_020461		36	47	0	0	0	1	0	36	47		
TUBGCP6	85378	broad.mit.edu	37	22	50682726	50682726	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr22:50682726G>A	ENST00000248846.5	-	1	267	c.163C>T	c.(163-165)Caa>Taa	p.Q55*	TUBGCP6_ENST00000439308.2_Nonsense_Mutation_p.Q55*|MAPK12_ENST00000497036.1_5'Flank|HDAC10_ENST00000498366.1_5'Flank			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	55					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCAGCTGTTGAGTCTCATCT	0.532																																						uc003bkb.1		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(163-165)CAA>TAA		tubulin, gamma complex associated protein 6							84.0	78.0	80.0					22																	50682726		2203	4300	6503	SO:0001587	stop_gained	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50682726G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.163C>T	22.37:g.50682726G>A	ENSP00000248846:p.Gln55*					TUBGCP6_uc010har.1_Nonsense_Mutation_p.Q55*|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hau.1_Nonsense_Mutation_p.Q55*	p.Q55*	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	675	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	55					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Nonsense_Mutation	SNP	ENST00000248846.5	37	c.163C>T	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882379	0.51908	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	.	.	.	4.06	3.0	0.34707	.	2.576260	0.01448	N	0.015377	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	12.4026	0.55422	0.0:0.0:0.8302:0.1697	.	.	.	.	X	55	.	ENSP00000248846:Q55X	Q	-	1	0	TUBGCP6	49024853	0.866000	0.29940	0.001000	0.08648	0.175000	0.22909	4.197000	0.58413	0.867000	0.35654	0.561000	0.74099	CAA		0.532	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3		NM_020461		61	97	0	0	0	1	0	61	97		
SH3BP5	9467	broad.mit.edu	37	3	15300495	15300495	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:15300495C>G	ENST00000383791.3	-	7	952	c.732G>C	c.(730-732)aaG>aaC	p.K244N	SH3BP5-AS1_ENST00000436602.1_RNA|SH3BP5_ENST00000253688.5_Missense_Mutation_p.K87N|SH3BP5_ENST00000426925.1_Missense_Mutation_p.K87N|SH3BP5_ENST00000408919.3_Missense_Mutation_p.K87N|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5-AS1_ENST00000413977.1_RNA	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	244					intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						TCAGGGCCATCTTGTACTCGC	0.557																																						uc003bzp.1		NaN																	0					0						c.(730-732)AAG>AAC		SH3-domain binding protein 5 (BTK-associated)							106.0	90.0	95.0					3																	15300495		2203	4300	6503	SO:0001583	missense	9467				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding	g.chr3:15300495C>G	AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"""SH3 binding protein"""	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.732G>C	3.37:g.15300495C>G	ENSP00000373301:p.Lys244Asn					SH3BP5_uc010hem.1_Intron|SH3BP5_uc003bzq.1_Missense_Mutation_p.K87N|SH3BP5_uc003bzr.1_Missense_Mutation_p.K87N|uc003bzo.1_RNA	p.K244N	NM_004844	NP_004835	O60239	3BP5_HUMAN			7	921	-			244					B3KQW6|Q5JWV9	Missense_Mutation	SNP	ENST00000383791.3	37	c.732G>C	CCDS2625.2	.	.	.	.	.	.	.	.	.	.	C	15.23	2.773115	0.49680	.	.	ENSG00000131370	ENST00000383791;ENST00000426925;ENST00000253688;ENST00000408919;ENST00000366391	T;T	0.80123	-1.34;2.25	5.36	5.36	0.76844	.	0.132728	0.64402	D	0.000002	T	0.74550	0.3731	L	0.27053	0.805	0.46131	D	0.998882	P	0.40302	0.712	P	0.45377	0.478	T	0.73091	-0.4092	10	0.32370	T	0.25	-27.4279	13.1183	0.59311	0.0:0.9219:0.0:0.0781	.	244	O60239	3BP5_HUMAN	N	244;87;87;87;87	ENSP00000373301:K244N;ENSP00000394115:K87N	ENSP00000253688:K87N	K	-	3	2	SH3BP5	15275499	1.000000	0.71417	0.999000	0.59377	0.476000	0.33039	1.483000	0.35497	2.530000	0.85305	0.505000	0.49811	AAG		0.557	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340740.2		NM_004844		46	62	0	0	0	1	0	46	62		
EOMES	8320	broad.mit.edu	37	3	27761760	27761760	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:27761760T>C	ENST00000295743.4	-	2	1141	c.938A>G	c.(937-939)tAc>tGc	p.Y313C	EOMES_ENST00000537516.1_Missense_Mutation_p.Y18C|EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000449599.1_Missense_Mutation_p.Y313C			O95936	EOMES_HUMAN	eomesodermin	313					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GAACACATTGTAGTGGGCAGT	0.502																																						uc003cdx.2		NaN																	0				ovary(3)|breast(1)	4						c.(937-939)TAC>TGC		eomesodermin							127.0	132.0	130.0					3																	27761760		2203	4300	6503	SO:0001583	missense	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27761760T>C	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.938A>G	3.37:g.27761760T>C	ENSP00000295743:p.Tyr313Cys					EOMES_uc003cdy.3_Missense_Mutation_p.Y313C|EOMES_uc010hfn.2_Missense_Mutation_p.Y313C|EOMES_uc011axc.1_Missense_Mutation_p.Y18C	p.Y313C	NM_005442	NP_005433	O95936	EOMES_HUMAN			2	938	-			313			T-box.		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	c.938A>G	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418701	0.83559	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	D;D;D	0.92099	-2.97;-2.97;-2.97	4.74	4.74	0.60224	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97654	0.9231	H	0.98542	4.26	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.993;1.0;0.999;0.999	D	0.99032	1.0821	10	0.87932	D	0	.	14.4036	0.67065	0.0:0.0:0.0:1.0	.	27;313;313;313	B7Z4I2;F5H3K1;G3XAI5;O95936	.;.;.;EOMES_HUMAN	C	313;313;18;178	ENSP00000295743:Y313C;ENSP00000388620:Y313C;ENSP00000442097:Y18C	ENSP00000295743:Y313C	Y	-	2	0	EOMES	27736764	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.805000	0.86005	1.983000	0.57843	0.460000	0.39030	TAC		0.502	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1		NM_005442		194	234	0	0	0	1	0	194	234		
GOLGA4	2803	broad.mit.edu	37	3	37388779	37388779	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:37388779G>C	ENST00000361924.2	+	21	6942	c.6568G>C	c.(6568-6570)Gag>Cag	p.E2190Q	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.E2205Q	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2190	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATGGGTCGTGAGACTAAGGT	0.373																																						uc003cgv.2		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(6568-6570)GAG>CAG		golgi autoantigen, golgin subfamily a, 4							105.0	99.0	101.0					3																	37388779		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37388779G>C	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.6568G>C	3.37:g.37388779G>C	ENSP00000354486:p.Glu2190Gln					GOLGA4_uc003cgw.2_Missense_Mutation_p.E2205Q|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.E2071Q	p.E2190Q	NM_002078	NP_002069	Q13439	GOGA4_HUMAN			21	6872	+			2190			GRIP.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.6568G>C	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770635	0.90108	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.46819	1.22;1.16;0.86	5.48	5.48	0.80851	GRIP (5);	0.000000	0.33419	N	0.004938	T	0.69305	0.3096	M	0.69823	2.125	0.45930	D	0.998765	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.87578	0.998;0.998;0.942	T	0.71550	-0.4559	10	0.66056	D	0.02	.	18.1104	0.89533	0.0:0.0:1.0:0.0	.	2190;2205;2190	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	Q	2190;2205;2061	ENSP00000354486:E2190Q;ENSP00000349305:E2205Q;ENSP00000405842:E2061Q	ENSP00000349305:E2205Q	E	+	1	0	GOLGA4	37363783	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.013000	0.70776	2.574000	0.86865	0.455000	0.32223	GAG		0.373	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2		NM_002078		70	91	0	0	0	1	0	70	91		
XIRP1	165904	broad.mit.edu	37	3	39226133	39226133	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:39226133C>G	ENST00000340369.3	-	2	5032	c.4804G>C	c.(4804-4806)Gag>Cag	p.E1602Q	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.E285Q	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1602					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCTCCGACCTCCTGGCCTGAG	0.562																																						uc003cjk.1		NaN																	0				ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(4804-4806)GAG>CAG		xin actin-binding repeat containing 1							199.0	186.0	190.0					3																	39226133		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39226133C>G	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.4804G>C	3.37:g.39226133C>G	ENSP00000343140:p.Glu1602Gln					XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_Missense_Mutation_p.E285Q	p.E1602Q	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	5025	-			1602					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.4804G>C	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	9.536	1.112012	0.20795	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.21543	3.79;2.0	4.15	4.15	0.48705	.	1.665770	0.04197	U	0.329382	T	0.33990	0.0882	L	0.54323	1.7	0.26031	N	0.981741	D	0.58970	0.984	P	0.48982	0.597	T	0.37384	-0.9708	10	0.30078	T	0.28	.	14.7406	0.69451	0.0:1.0:0.0:0.0	.	1602	Q702N8	XIRP1_HUMAN	Q	1602;285	ENSP00000343140:E1602Q;ENSP00000391645:E285Q	ENSP00000343140:E1602Q	E	-	1	0	XIRP1	39201137	0.024000	0.19004	0.307000	0.25127	0.017000	0.09413	0.803000	0.27083	2.268000	0.75426	0.655000	0.94253	GAG		0.562	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1		XM_093522		190	177	0	0	0	1	0	190	177		
SLC26A6	65010	broad.mit.edu	37	3	48664109	48664109	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:48664109C>T	ENST00000395550.2	-	19	2130	c.2083G>A	c.(2083-2085)Gac>Aac	p.D695N	SLC26A6_ENST00000358747.6_Missense_Mutation_p.D674N|SLC26A6_ENST00000383733.3_Missense_Mutation_p.D676N|SLC26A6_ENST00000420764.2_Missense_Mutation_p.D694N|SLC26A6_ENST00000455886.2_Missense_Mutation_p.D659N|SLC26A6_ENST00000337000.8_Missense_Mutation_p.D587N			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	695	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TCCCGGAAGTCATGGAAAATC	0.602																																					NSCLC(13;369 479 28271 30152 44026)	uc003cuf.1		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(12241-12243)GAC>AAC		cadherin EGF LAG seven-pass G-type receptor 3							135.0	134.0	135.0					3																	48664109		1887	4106	5993	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48664109C>T	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.2083G>A	3.37:g.48664109C>T	ENSP00000378920:p.Asp695Asn					SLC26A6_uc003cug.2_Missense_Mutation_p.D674N|SLC26A6_uc003cuh.2_Missense_Mutation_p.D695N|SLC26A6_uc010hke.2_Missense_Mutation_p.D527N|SLC26A6_uc003cuk.2_Missense_Mutation_p.D587N|SLC26A6_uc003cui.2_Missense_Mutation_p.D694N|SLC26A6_uc003cuj.2_Missense_Mutation_p.D676N|SLC26A6_uc011bbp.1_Missense_Mutation_p.D659N	p.D4081N	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	54	12241	-			Error:Variant_position_missing_in_Q9NYQ7_after_alignment					B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	ENST00000395550.2	37	c.12241G>A	CCDS43087.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971941	0.74246	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886	D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.42	5.42	0.78866	Sulphate transporter/antisigma-factor antagonist STAS (4);	.	.	.	.	D	0.95223	0.8451	M	0.85462	2.755	0.48901	D	0.999724	D;P;D;D;D;D;D	0.89917	1.0;0.711;1.0;0.999;1.0;1.0;0.993	D;P;D;D;D;D;D	0.91635	0.999;0.451;0.997;0.987;0.998;0.998;0.911	D	0.95536	0.8608	9	0.72032	D	0.01	.	19.2048	0.93726	0.0:1.0:0.0:0.0	.	659;689;587;676;694;695;4081	B4DMZ1;Q86YZ4;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;.;S26A6_HUMAN;.	N	694;695;676;587;689;674;659	ENSP00000404684:D694N;ENSP00000378920:D695N;ENSP00000373239:D676N;ENSP00000337648:D587N;ENSP00000351597:D674N;ENSP00000401066:D659N	ENSP00000337648:D587N	D	-	1	0	SLC26A6	48639113	1.000000	0.71417	0.998000	0.56505	0.064000	0.16182	6.752000	0.74898	2.550000	0.86006	0.585000	0.79938	GAC		0.602	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1		NM_022911		166	307	0	0	0	1	0	166	307		
USP4	7375	broad.mit.edu	37	3	49339954	49339954	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:49339954G>A	ENST00000265560.4	-	10	1196	c.1150C>T	c.(1150-1152)Cct>Tct	p.P384S	USP4_ENST00000351842.4_Missense_Mutation_p.P337S|USP4_ENST00000488520.1_5'UTR	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	384	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GAAAATTGAGGAGCAAAACGT	0.388																																						uc003cwq.2		NaN																	0				ovary(2)|urinary_tract(1)|lung(1)	4						c.(1150-1152)CCT>TCT		ubiquitin specific protease 4 isoform a							74.0	74.0	74.0					3																	49339954		2203	4300	6503	SO:0001583	missense	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49339954G>A	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1150C>T	3.37:g.49339954G>A	ENSP00000265560:p.Pro384Ser					USP4_uc003cwo.2_Missense_Mutation_p.P114S|USP4_uc003cwp.2_Missense_Mutation_p.P114S|USP4_uc003cwr.2_Missense_Mutation_p.P337S	p.P384S	NM_003363	NP_003354	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	10	1229	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	384					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	c.1150C>T	CCDS2793.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.141272|4.141272	0.77775|0.77775	.|.	.|.	ENSG00000114316|ENSG00000114316	ENST00000351842;ENST00000265560|ENST00000431357	T;T|.	0.03124|.	4.04;4.04|.	5.74|5.74	5.74|5.74	0.90152|0.90152	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71533|0.71533	0.3351|0.3351	L|L	0.56280|0.56280	1.765|1.765	0.80722|0.80722	D|D	1|1	D;P;D|.	0.89917|.	1.0;0.476;1.0|.	D;B;D|.	0.97110|.	1.0;0.143;1.0|.	T|T	0.67593|0.67593	-0.5631|-0.5631	10|5	0.30078|.	T|.	0.28|.	-16.7236|-16.7236	18.497|18.497	0.90869|0.90869	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	337;384;384|.	Q13107-2;Q13107;Q08AK7|.	.;UBP4_HUMAN;.|.	S|F	337;384|140	ENSP00000341028:P337S;ENSP00000265560:P384S|.	ENSP00000265560:P384S|.	P|S	-|-	1|2	0|0	USP4|USP4	49314958|49314958	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.813000|9.813000	0.99286|0.99286	2.712000|2.712000	0.92718|0.92718	0.561000|0.561000	0.74099|0.74099	CCT|TCC		0.388	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1		NM_199443		49	34	0	0	0	1	0	49	34		
RNF123	63891	broad.mit.edu	37	3	49724610	49724610	+	5'Flank	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:49724610C>G	ENST00000327697.6	+	0	0				MST1_ENST00000449682.2_Missense_Mutation_p.Q193H|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.Q118H|MST1_ENST00000545762.1_Missense_Mutation_p.R141T|RNF123_ENST00000432042.1_5'Flank|AC099668.5_ENST00000563780.1_RNA	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TGCCGCAGCTCTGGAAGCGCA	0.622																																						uc003cxg.2		NaN																	0				lung(1)	1						c.(577-579)CAG>CAC		macrophage stimulating 1 (hepatocyte growth							31.0	34.0	33.0					3																	49724610		2202	4300	6502	SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49724610C>G	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49724610C>G	Exception_encountered					MST1_uc011bcs.1_Missense_Mutation_p.Q193H|MST1_uc010hkx.2_Missense_Mutation_p.Q114H|MST1_uc011bct.1_Missense_Mutation_p.Q193H|MST1_uc011bcu.1_RNA|RNF123_uc003cxh.2_5'Flank	p.Q193H	NM_020998	NP_066278	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	5	651	-			179			Kringle 1.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.579G>C	CCDS33758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.082800|4.082800	0.76528|0.76528	.|.	.|.	ENSG00000173531|ENSG00000173531	ENST00000449682;ENST00000383728|ENST00000545762	T;T|T	0.63580|0.52983	-0.05;-0.05|0.64	5.9|5.9	4.12|4.12	0.48240|0.48240	Kringle (4);Kringle-like fold (1);|.	0.000000|.	0.40144|.	N|.	0.001162|.	T|T	0.57725|0.57725	0.2073|0.2073	M|M	0.76727|0.76727	2.345|2.345	0.27863|0.27863	N|N	0.940312|0.940312	D;D;D|.	0.89917|.	0.998;1.0;1.0|.	D;D;D|.	0.83275|.	0.996;0.992;0.993|.	T|T	0.52449|0.52449	-0.8574|-0.8574	10|6	0.87932|.	D|.	0|.	.|.	10.8377|10.8377	0.46696|0.46696	0.0:0.8051:0.0:0.1949|0.0:0.8051:0.0:0.1949	.|.	179;179;193|.	B7Z538;P26927;G3XAK1|.	.;HGFL_HUMAN;.|.	H|T	193;118|141	ENSP00000414287:Q193H;ENSP00000373234:Q118H|ENSP00000437535:R141T	ENSP00000373234:Q118H|.	Q|R	-|-	3|2	2|0	MST1|MST1	49699614|49699614	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	2.058000|2.058000	0.41374|0.41374	0.840000|0.840000	0.34995|0.34995	0.591000|0.591000	0.81541|0.81541	CAG|AGA		0.622	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2		NM_022064		36	67	0	0	0	1	0	36	67		
DNAH1	25981	broad.mit.edu	37	3	52382979	52382979	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:52382979G>C	ENST00000420323.2	+	13	2443	c.2182G>C	c.(2182-2184)Gag>Cag	p.E728Q		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	728	Stem. {ECO:0000250}.				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)		ACTGGTGGAAGAGCTACGGGC	0.592																																						uc011bef.1		NaN																	0				large_intestine(3)	3						c.(2182-2184)GAG>CAG		dynein, axonemal, heavy chain 1							114.0	120.0	118.0					3																	52382979		2160	4271	6431	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.chr3:52382979G>C	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.2182G>C	3.37:g.52382979G>C	ENSP00000401514:p.Glu728Gln					DNAH1_uc003ddt.1_Missense_Mutation_p.E728Q	p.E728Q	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)	13	2443	+			728			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.2182G>C	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.292795	0.23564	.	.	ENSG00000114841	ENST00000420323	T	0.24350	1.86	5.24	5.24	0.73138	.	0.141093	0.31976	N	0.006768	T	0.47154	0.1430	M	0.76002	2.32	0.46396	D	0.999028	B;P	0.46912	0.417;0.886	B;P	0.55824	0.125;0.785	T	0.29912	-0.9996	10	0.27082	T	0.32	.	18.842	0.92188	0.0:0.0:1.0:0.0	.	728;728	C9JXH6;Q9P2D7-3	.;.	Q	728	ENSP00000401514:E728Q	ENSP00000401514:E728Q	E	+	1	0	DNAH1	52358019	1.000000	0.71417	0.961000	0.40146	0.179000	0.23085	3.705000	0.54823	2.454000	0.82982	0.655000	0.94253	GAG		0.592	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1		NM_015512		96	123	0	0	0	1	0	96	123		
NT5DC2	64943	broad.mit.edu	37	3	52561907	52561907	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:52561907C>G	ENST00000307076.4	-	8	1162	c.762G>C	c.(760-762)ctG>ctC	p.L254L	NT5DC2_ENST00000307092.4_Silent_p.L195L|NT5DC2_ENST00000422318.2_Silent_p.L291L|NT5DC2_ENST00000490681.1_5'Flank|NT5DC2_ENST00000459839.1_Silent_p.L266L	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	254							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CCAGGCGGCTCAGGACAGCAA	0.602																																						uc003deo.2		NaN																	0					0						c.(760-762)CTG>CTC		5'-nucleotidase domain containing 2 isoform 2							96.0	86.0	89.0					3																	52561907		2203	4300	6503	SO:0001819	synonymous_variant	64943						hydrolase activity|metal ion binding	g.chr3:52561907C>G	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.762G>C	3.37:g.52561907C>G						NT5DC2_uc003dem.2_Silent_p.L124L|NT5DC2_uc003den.2_Silent_p.L291L|NT5DC2_uc010hmi.2_Silent_p.L266L|NT5DC2_uc010hmj.2_Silent_p.L70L	p.L254L	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	8	1186	-			254					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Silent	SNP	ENST00000307076.4	37	c.762G>C	CCDS2858.1	.	.	.	.	.	.	.	.	.	.	C	1.235	-0.623032	0.03636	.	.	ENSG00000168268	ENST00000489316	.	.	.	4.73	0.541	0.17168	.	.	.	.	.	T	0.41396	0.1157	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21042	-1.0257	4	.	.	.	-18.7543	1.0107	0.01496	0.1497:0.2926:0.2955:0.2622	.	.	.	.	Q	176	.	.	E	-	1	0	NT5DC2	52536947	0.981000	0.34729	0.829000	0.32907	0.430000	0.31655	0.217000	0.17603	-0.208000	0.10171	-0.698000	0.03680	GAG		0.602	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1		NM_022908		49	106	0	0	0	1	0	49	106		
PBRM1	55193	broad.mit.edu	37	3	52613209	52613209	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:52613209C>T	ENST00000296302.7	-	21	3395	c.3394G>A	c.(3394-3396)Gaa>Aaa	p.E1132K	PBRM1_ENST00000409114.3_Missense_Mutation_p.E1147K|PBRM1_ENST00000337303.4_Missense_Mutation_p.E1132K|PBRM1_ENST00000410007.1_Missense_Mutation_p.E1107K|PBRM1_ENST00000409057.1_Missense_Mutation_p.E1132K|PBRM1_ENST00000409767.1_Missense_Mutation_p.E1147K|PBRM1_ENST00000356770.4_Missense_Mutation_p.E1100K|PBRM1_ENST00000394830.3_Missense_Mutation_p.E1107K|SMIM4_ENST00000476842.1_3'UTR			Q86U86	PB1_HUMAN	polybromo 1	1132					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)		GGGACATCTTCTTTTTCCTGT	0.408			"""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		p.E1132fs*27(1)		kidney(136)|breast(4)	140						c.(3394-3396)GAA>AAA		polybromo 1 isoform 4							117.0	108.0	111.0					3																	52613209		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.chr3:52613209C>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.3394G>A	3.37:g.52613209C>T	ENSP00000296302:p.Glu1132Lys					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.E1132K|PBRM1_uc003der.2_Missense_Mutation_p.E1100K|PBRM1_uc003det.2_Missense_Mutation_p.E1147K|PBRM1_uc003deu.2_Missense_Mutation_p.E1147K|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.E1132K|PBRM1_uc010hmk.1_Missense_Mutation_p.E1107K|PBRM1_uc003dey.2_Missense_Mutation_p.E1107K|PBRM1_uc003dez.1_Missense_Mutation_p.E1131K	p.E1132K	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)	21	3406	-			1132					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.3394G>A		.	.	.	.	.	.	.	.	.	.	C	20.2	3.955850	0.73902	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	T;T;T;T;T;T;T;T;T	0.36520	1.27;1.3;1.31;1.25;1.27;1.3;1.73;1.25;1.27	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	L	0.39898	1.24	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.998;0.974;0.998;0.996;0.999;0.993;0.998;0.996	D;D;D;D;D;P;D;D	0.81914	0.991;0.969;0.991;0.987;0.995;0.757;0.991;0.987	T	0.34775	-0.9815	10	0.31617	T	0.26	.	20.089	0.97809	0.0:1.0:0.0:0.0	.	1107;1107;1132;1147;1147;1132;1100;1132	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	K	1100;1107;1132;1132;1132;1107;1147;1147;1131	ENSP00000349213:E1100K;ENSP00000378307:E1107K;ENSP00000296302:E1132K;ENSP00000338302:E1132K;ENSP00000386593:E1132K;ENSP00000386529:E1107K;ENSP00000386643:E1147K;ENSP00000386601:E1147K;ENSP00000387775:E1131K	ENSP00000296302:E1132K	E	-	1	0	PBRM1	52588249	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.760000	0.85248	2.765000	0.95021	0.591000	0.81541	GAA		0.408	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165		56	75	0	0	0	1	0	56	75		
PBRM1	55193	broad.mit.edu	37	3	52643597	52643597	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:52643597C>G	ENST00000296302.7	-	16	2300	c.2299G>C	c.(2299-2301)Gag>Cag	p.E767Q	PBRM1_ENST00000409114.3_Missense_Mutation_p.E782Q|PBRM1_ENST00000337303.4_Missense_Mutation_p.E767Q|PBRM1_ENST00000410007.1_Missense_Mutation_p.E767Q|PBRM1_ENST00000409057.1_Missense_Mutation_p.E767Q|PBRM1_ENST00000409767.1_Missense_Mutation_p.E782Q|PBRM1_ENST00000356770.4_Missense_Mutation_p.E735Q|PBRM1_ENST00000394830.3_Missense_Mutation_p.E767Q			Q86U86	PB1_HUMAN	polybromo 1	767					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)	p.D766fs*22(2)|p.D734fs*22(1)		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)		TGAGAGTCCTCATCTCCCTCC	0.438			"""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		3	Deletion - Frameshift(3)		kidney(3)	kidney(136)|breast(4)	140						c.(2299-2301)GAG>CAG		polybromo 1 isoform 4							83.0	80.0	81.0					3																	52643597		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.chr3:52643597C>G	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.2299G>C	3.37:g.52643597C>G	ENSP00000296302:p.Glu767Gln					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.E767Q|PBRM1_uc003der.2_Missense_Mutation_p.E735Q|PBRM1_uc003det.2_Missense_Mutation_p.E782Q|PBRM1_uc003deu.2_Missense_Mutation_p.E782Q|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.E767Q|PBRM1_uc010hmk.1_Missense_Mutation_p.E767Q|PBRM1_uc003dey.2_Missense_Mutation_p.E767Q|PBRM1_uc003dez.1_Missense_Mutation_p.E767Q|PBRM1_uc003dfb.1_Missense_Mutation_p.E680Q|PBRM1_uc003dfa.1_Missense_Mutation_p.E113Q|PBRM1_uc003dfc.2_Missense_Mutation_p.E134Q	p.E767Q	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)	16	2311	-			767					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.2299G>C		.	.	.	.	.	.	.	.	.	.	C	27.5	4.832526	0.91036	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14	6.17	6.17	0.99709	Bromodomain (1);	0.095708	0.64402	D	0.000001	T	0.38878	0.1057	L	0.43923	1.385	0.80722	D	1	D;P;P;D;P;P;D;D;D;P;P	0.63880	0.969;0.546;0.907;0.993;0.933;0.933;0.961;0.986;0.99;0.933;0.933	P;B;B;P;P;P;P;P;P;P;P	0.60173	0.825;0.133;0.371;0.776;0.542;0.542;0.756;0.87;0.694;0.542;0.542	T	0.00555	-1.1673	10	0.45353	T	0.12	-7.6608	20.8794	0.99867	0.0:1.0:0.0:0.0	.	767;142;767;767;767;767;782;782;767;735;767	Q86U86-9;Q6IRX1;Q86U86-6;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;.;.;PB1_HUMAN;.;.	Q	735;767;767;767;767;767;782;782;767;726	ENSP00000349213:E735Q;ENSP00000378307:E767Q;ENSP00000296302:E767Q;ENSP00000338302:E767Q;ENSP00000386593:E767Q;ENSP00000386529:E767Q;ENSP00000386643:E782Q;ENSP00000386601:E782Q;ENSP00000387775:E767Q;ENSP00000397662:E726Q	ENSP00000296302:E767Q	E	-	1	0	PBRM1	52618637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.941000	0.99782	0.655000	0.94253	GAG		0.438	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165		43	25	0	0	0	1	0	43	25		
ITIH1	3697	broad.mit.edu	37	3	52820325	52820325	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:52820325C>A	ENST00000273283.2	+	13	1632	c.1608C>A	c.(1606-1608)ttC>ttA	p.F536L	ITIH1_ENST00000405128.3_5'Flank|ITIH1_ENST00000537050.1_Missense_Mutation_p.F248L|ITIH1_ENST00000540715.1_Missense_Mutation_p.F394L|ITIH1_ENST00000542827.1_Missense_Mutation_p.F536L	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	536	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GACAAGAATTCAGTATAACCT	0.582																																						uc003dfs.2		NaN																	0				ovary(3)	3						c.(1606-1608)TTC>TTA		inter-alpha (globulin) inhibitor H1							59.0	44.0	49.0					3																	52820325		2202	4295	6497	SO:0001583	missense	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52820325C>A		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1608C>A	3.37:g.52820325C>A	ENSP00000273283:p.Phe536Leu					ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.F137L|ITIH1_uc010hmo.1_Missense_Mutation_p.F90L|ITIH1_uc003dfu.2_5'Flank	p.F536L	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	13	1632	+			536			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	c.1608C>A	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	C	0.357	-0.941698	0.02322	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133	T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19	5.49	2.3	0.28687	.	0.267128	0.39146	N	0.001442	T	0.03095	0.0091	N	0.16066	0.365	0.27090	N	0.962865	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.06405	0.002;0.001;0.002	T	0.43782	-0.9370	10	0.02654	T	1	-15.049	2.8667	0.05603	0.1512:0.521:0.2168:0.1111	.	394;137;536	F5H165;Q9P1C5;P19827	.;.;ITIH1_HUMAN	L	536;536;394;248;89	ENSP00000442584:F536L;ENSP00000273283:F536L;ENSP00000443973:F394L;ENSP00000443847:F248L;ENSP00000395836:F89L	ENSP00000273283:F536L	F	+	3	2	ITIH1	52795365	0.004000	0.15560	0.767000	0.31495	0.521000	0.34408	0.002000	0.13061	0.545000	0.28902	0.462000	0.41574	TTC		0.582	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1		NM_002215		6	3	1	0	0.0477658	1	0.0478438	6	3		
LRIG1	26018	broad.mit.edu	37	3	66501996	66501996	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:66501996C>T	ENST00000273261.3	-	3	876	c.352G>A	c.(352-354)Gtc>Atc	p.V118I	LRIG1_ENST00000383703.3_Missense_Mutation_p.V118I	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	118					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AAGAGAGAGACGACATGTGAT	0.483																																						uc003dmx.2		NaN																	0				skin(3)|ovary(2)	5						c.(352-354)GTC>ATC		leucine-rich repeats and immunoglobulin-like							224.0	188.0	200.0					3																	66501996		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66501996C>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.352G>A	3.37:g.66501996C>T	ENSP00000273261:p.Val118Ile					LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Missense_Mutation_p.V118I	p.V118I	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	3	366	-		Lung NSC(201;0.0101)	118			Extracellular (Potential).|LRR 3.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.352G>A	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516556	0.27123	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.57107	0.42;0.42	5.91	-6.34	0.01982	.	1.231700	0.05589	N	0.574291	T	0.28499	0.0705	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.15723	-1.0427	10	0.37606	T	0.19	.	4.6725	0.12696	0.1167:0.1986:0.1051:0.5796	.	118;118	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	I	118;118;45	ENSP00000273261:V118I;ENSP00000373208:V118I	ENSP00000273261:V118I	V	-	1	0	LRIG1	66584686	0.000000	0.05858	0.002000	0.10522	0.932000	0.56968	-1.519000	0.02243	-0.902000	0.03886	-0.794000	0.03295	GTC		0.483	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1		NM_015541		97	227	0	0	0	1	0	97	227		
OR5H6	79295	broad.mit.edu	37	3	97983819	97983819	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:97983819C>G	ENST00000383696.2	+	1	732	c.691C>G	c.(691-693)Ctt>Gtt	p.L231V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGGAACTATTCTTATATCTTA	0.338																																						uc003dsi.1		NaN																	0				skin(2)|large_intestine(1)	3						c.(691-693)CTT>GTT		olfactory receptor, family 5, subfamily H,							42.0	43.0	43.0					3																	97983819		2203	4292	6495	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983819C>G	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.691C>G	3.37:g.97983819C>G	ENSP00000373196:p.Leu231Val						p.L231V	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			1	691	+			231			Helical; Name=5; (Potential).		Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.691C>G	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	8.160	0.789342	0.16258	.	.	ENSG00000230301	ENST00000383696	T	0.00051	8.81	2.19	1.29	0.21616	GPCR, rhodopsin-like superfamily (1);	0.171635	0.28026	N	0.016891	T	0.00271	0.0008	L	0.55481	1.735	0.09310	N	1	P	0.51791	0.948	P	0.61874	0.895	T	0.47114	-0.9142	10	0.56958	D	0.05	.	8.5281	0.33317	0.0:0.7575:0.2425:0.0	.	231	Q8NGV6	OR5H6_HUMAN	V	231	ENSP00000373196:L231V	ENSP00000373196:L231V	L	+	1	0	OR5H6	99466509	0.000000	0.05858	0.093000	0.20910	0.046000	0.14306	-1.361000	0.02597	0.261000	0.21753	-1.052000	0.02337	CTT		0.338	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2				21	31	0	0	0	1	0	21	31		
ABI3BP	25890	broad.mit.edu	37	3	100569525	100569525	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:100569525C>G	ENST00000284322.5	-	14	1388	c.1279G>C	c.(1279-1281)Gaa>Caa	p.E427Q	ABI3BP_ENST00000495063.1_Missense_Mutation_p.E476Q|ABI3BP_ENST00000471714.1_Missense_Mutation_p.E476Q	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	427	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CTTGGCTGTTCAAGAGTTCTA	0.358																																						uc003dun.2		NaN																	0				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1279-1281)GAA>CAA		ABI gene family, member 3 (NESH) binding protein							131.0	127.0	128.0					3																	100569525		1806	4071	5877	SO:0001583	missense	25890					extracellular space		g.chr3:100569525C>G	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1279G>C	3.37:g.100569525C>G	ENSP00000284322:p.Glu427Gln					ABI3BP_uc003duo.2_Missense_Mutation_p.E469Q	p.E427Q	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			14	1364	-			427			Pro-rich.		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.1279G>C	CCDS46880.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	20.4|20.4|20.4	3.991161|3.991161|3.991161	0.74703|0.74703|0.74703	.|.|.	.|.|.	ENSG00000154175|ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063|ENST00000533855|ENST00000459682	T;T;T|T|.	0.58652|0.58060|.	0.32;0.32;0.32|0.36|.	5.87|5.87|5.87	5.87|5.87|5.87	0.94306|0.94306|0.94306	.|.|.	0.114014|.|.	0.64402|.|.	D|.|.	0.000018|.|.	T|T|.	0.69287|0.69287|.	0.3094|0.3094|.	L|L|L	0.54323|0.54323|0.54323	1.7|1.7|1.7	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;P|.|.	0.55605|.|.	0.972;0.9|.|.	P;B|.|.	0.58172|.|.	0.834;0.416|.|.	T|T|.	0.64952|0.64952|.	-0.6286|-0.6286|.	10|7|.	0.33940|0.44086|.	T|T|.	0.23|0.13|.	-25.2476|-25.2476|-25.2476	15.3851|15.3851|15.3851	0.74691|0.74691|0.74691	0.0:0.8518:0.1482:0.0|0.0:0.8518:0.1482:0.0|0.0:0.8518:0.1482:0.0	.|.|.	476;427|.|.	Q5JPC9;Q7Z7G0|.|.	.;TARSH_HUMAN|.|.	Q|F|S	476;427;476|104|52	ENSP00000420524:E476Q;ENSP00000284322:E427Q;ENSP00000433993:E476Q|ENSP00000437031:L104F|.	ENSP00000284322:E427Q|ENSP00000437031:L104F|.	E|L|X	-|-|-	1|3|2	0|2|2	ABI3BP|ABI3BP|ABI3BP	102052215|102052215|102052215	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	1.789000|1.789000|1.789000	0.38724|0.38724|0.38724	2.941000|2.941000|2.941000	0.99782|0.99782|0.99782	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|TTG|TGA		0.358	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1				32	67	0	0	0	1	0	32	67		
PCNP	57092	broad.mit.edu	37	3	101304305	101304305	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:101304305C>G	ENST00000265260.3	+	3	425	c.304C>G	c.(304-306)Ctt>Gtt	p.L102V	PCNP_ENST00000296024.5_Missense_Mutation_p.L102V|PCNP_ENST00000486406.1_Intron|PCNP_ENST00000469941.1_5'UTR	NM_020357.1	NP_065090.1	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear protein	102					cell cycle (GO:0007049)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)				large_intestine(1)|lung(1)	2						TGTTCCAACTCTTGCTCCAAA	0.284																																						uc003dva.2		NaN																	0					0						c.(304-306)CTT>GTT		PEST proteolytic signal containing nuclear							91.0	90.0	91.0					3																	101304305		2203	4297	6500	SO:0001583	missense	57092				cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding	g.chr3:101304305C>G		CCDS2942.1	3q12.3	2006-03-09			ENSG00000081154	ENSG00000081154			30023	protein-coding gene	gene with protein product		615210				12176013	Standard	NM_020357		Approved		uc003dva.3	Q8WW12	OTTHUMG00000159108	ENST00000265260.3:c.304C>G	3.37:g.101304305C>G	ENSP00000265260:p.Leu102Val					PCNP_uc003dvb.2_RNA|PCNP_uc003dvc.2_RNA|PCNP_uc003dvd.2_Missense_Mutation_p.L102V	p.L102V	NM_020357	NP_065090	Q8WW12	PCNP_HUMAN			3	322	+			102					B2RBE7|D3DN52|Q53GF3|Q6AI44|Q96CU3|Q9NS81	Missense_Mutation	SNP	ENST00000265260.3	37	c.304C>G	CCDS2942.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935080	0.52866	.	.	ENSG00000081154	ENST00000265260;ENST00000296024	.	.	.	5.8	5.8	0.92144	.	0.195247	0.45867	D	0.000335	T	0.34483	0.0899	L	0.33485	1.01	0.30401	N	0.780067	B;B	0.11235	0.004;0.0	B;B	0.14578	0.011;0.003	T	0.21348	-1.0248	9	0.02654	T	1	.	15.5151	0.75818	0.0:0.8623:0.1377:0.0	.	102;102	Q8WW12-2;Q8WW12	.;PCNP_HUMAN	V	102	.	ENSP00000265260:L102V	L	+	1	0	PCNP	102786995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.641000	0.46587	2.743000	0.94032	0.591000	0.81541	CTT		0.284	PCNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353338.2		NM_020357		61	45	0	0	0	1	0	61	45		
RPL24	6152	broad.mit.edu	37	3	101399989	101399989	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:101399989C>T	ENST00000394077.3	-	6	569	c.464G>A	c.(463-465)gGa>gAa	p.G155E	ZBTB11-AS1_ENST00000609682.1_RNA|RPL24_ENST00000495401.1_3'UTR	NM_000986.3	NP_000977.1	P83731	RL24_HUMAN	ribosomal protein L24	155					cellular protein metabolic process (GO:0044267)|exit from mitosis (GO:0010458)|gene expression (GO:0010467)|mitotic cell cycle checkpoint (GO:0007093)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|optic nerve development (GO:0021554)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|ribosomal large subunit assembly (GO:0000027)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(2)|urinary_tract(1)	4						TTAGCGTTTTCCACCAACTCG	0.378																																						uc003dvh.1		NaN																	0					0						c.(463-465)GGA>GAA		ribosomal protein L24							112.0	125.0	120.0					3																	101399989		2203	4300	6503	SO:0001583	missense	6152				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr3:101399989C>T	AB007177	CCDS33809.1	3q12	2011-04-06			ENSG00000114391	ENSG00000114391		"""L ribosomal proteins"""	10325	protein-coding gene	gene with protein product		604180				9582194	Standard	NM_000986		Approved	L24	uc003dvh.1	P83731	OTTHUMG00000159146	ENST00000394077.3:c.464G>A	3.37:g.101399989C>T	ENSP00000377640:p.Gly155Glu					RPL24_uc003dvi.1_3'UTR	p.G155E	NM_000986	NP_000977	P83731	RL24_HUMAN			6	507	-			155					B2R4Y3|P38663|Q6IBS3	Missense_Mutation	SNP	ENST00000394077.3	37	c.464G>A	CCDS33809.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092105	0.94149	.	.	ENSG00000114391	ENST00000394077	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	U	0.000000	D	0.85057	0.5610	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87217	0.2251	9	0.87932	D	0	.	19.4604	0.94915	0.0:1.0:0.0:0.0	.	155	P83731	RL24_HUMAN	E	155	.	ENSP00000377640:G155E	G	-	2	0	RPL24	102882679	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.464000	0.80887	2.613000	0.88420	0.655000	0.94253	GGA		0.378	RPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353487.1		NM_000986		151	132	0	0	0	1	0	151	132		
CCDC54	84692	broad.mit.edu	37	3	107096817	107096817	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:107096817C>G	ENST00000261058.1	+	1	630	c.383C>G	c.(382-384)tCt>tGt	p.S128C		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	128										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GATATCCTCTCTATGAAAGAA	0.393																																						uc003dwi.1		NaN																	0					0						c.(382-384)TCT>TGT		coiled-coil domain containing 54							54.0	49.0	51.0					3																	107096817		2202	4300	6502	SO:0001583	missense	84692							g.chr3:107096817C>G	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.383C>G	3.37:g.107096817C>G	ENSP00000261058:p.Ser128Cys						p.S128C	NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN			1	630	+			128			Potential.		Q96A43	Missense_Mutation	SNP	ENST00000261058.1	37	c.383C>G	CCDS2949.1	.	.	.	.	.	.	.	.	.	.	C	8.841	0.942191	0.18281	.	.	ENSG00000138483	ENST00000261058	T	0.48836	0.8	5.39	4.32	0.51571	.	0.633649	0.13968	N	0.350356	T	0.61035	0.2315	M	0.62723	1.935	0.09310	N	1	D	0.71674	0.998	P	0.62740	0.906	T	0.51395	-0.8711	10	0.66056	D	0.02	-1.48	9.9042	0.41366	0.0:0.8911:0.0:0.1089	.	128	Q8NEL0	CCD54_HUMAN	C	128	ENSP00000261058:S128C	ENSP00000261058:S128C	S	+	2	0	CCDC54	108579507	0.004000	0.15560	0.011000	0.14972	0.023000	0.10783	0.774000	0.26675	2.536000	0.85505	0.585000	0.79938	TCT		0.393	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1		NM_032600		29	30	0	0	0	1	0	29	30		
CD47	961	broad.mit.edu	37	3	107798974	107798974	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:107798974G>A	ENST00000361309.5	-	2	369	c.264C>T	c.(262-264)gtC>gtT	p.V88V	CD47_ENST00000355354.7_Silent_p.V88V	NM_001777.3	NP_001768.1	Q08722	CD47_HUMAN	CD47 molecule	88	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|opsonization (GO:0008228)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of inflammatory response (GO:0050729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T cell activation (GO:0050870)|response to bacterium (GO:0009617)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			GTAATTGTGAGACTTCAATTT	0.383																																						uc003dwt.1		NaN																	0				ovary(1)	1						c.(262-264)GTC>GTT		CD47 antigen isoform 1 precursor							181.0	159.0	166.0					3																	107798974		1883	4114	5997	SO:0001819	synonymous_variant	961				blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to plasma membrane	protein binding|thrombospondin receptor activity	g.chr3:107798974G>A		CCDS43125.1, CCDS43126.1	3q13.1-q13.2	2013-01-11	2006-03-28		ENSG00000196776	ENSG00000196776		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1682	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibody 1D8"", ""antigenic surface determinant protein OA3"", ""integrin associated protein"", ""Rh-related antigen"", ""leukocyte surface antigen CD47"", ""CD47 glycoprotein"""	601028	"""CD47 antigen (Rh-related antigen, integrin-associated signal transducer)"""	MER6		8294396, 2277087	Standard	XM_005247908		Approved	IAP, OA3	uc003dwt.1	Q08722	OTTHUMG00000044216	ENST00000361309.5:c.264C>T	3.37:g.107798974G>A						CD47_uc003dwu.1_Silent_p.V88V|CD47_uc003dwv.1_Silent_p.V88V|CD47_uc003dww.1_Silent_p.V88V	p.V88V	NM_001777	NP_001768	Q08722	CD47_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)		2	444	-			88			Extracellular (Potential).|Ig-like V-type.		A8K198|D3DN59|Q53Y71|Q96A60	Silent	SNP	ENST00000361309.5	37	c.264C>T	CCDS43126.1																																																																																				0.383	CD47-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000102793.1		NM_001777		62	104	0	0	0	1	0	62	104		
MYH15	22989	broad.mit.edu	37	3	108163567	108163567	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:108163567C>G	ENST00000273353.3	-	23	2691	c.2635G>C	c.(2635-2637)Gag>Cag	p.E879Q		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	879						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTCTGAAACTCTGATTTCTCC	0.438																																						uc003dxa.1		NaN																	0				ovary(5)|central_nervous_system(2)	7						c.(2635-2637)GAG>CAG		myosin, heavy polypeptide 15							128.0	120.0	123.0					3																	108163567		1903	4135	6038	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108163567C>G	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2635G>C	3.37:g.108163567C>G	ENSP00000273353:p.Glu879Gln						p.E879Q	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			23	2692	-			879			Potential.			Missense_Mutation	SNP	ENST00000273353.3	37	c.2635G>C	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850273	0.71719	.	.	ENSG00000144821	ENST00000273353	D	0.84298	-1.83	5.15	4.26	0.50523	.	.	.	.	.	D	0.91402	0.7287	M	0.80028	2.48	0.36753	D	0.882846	D	0.59357	0.985	D	0.64042	0.921	D	0.93720	0.7032	9	0.62326	D	0.03	.	14.5668	0.68182	0.0:0.9254:0.0:0.0746	.	879	Q9Y2K3	MYH15_HUMAN	Q	879	ENSP00000273353:E879Q	ENSP00000273353:E879Q	E	-	1	0	MYH15	109646257	0.981000	0.34729	0.949000	0.38748	0.782000	0.44232	2.884000	0.48562	2.550000	0.86006	0.650000	0.86243	GAG		0.438	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1		XM_036988		97	78	0	0	0	1	0	97	78		
UPK1B	7348	broad.mit.edu	37	3	118906732	118906732	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:118906732G>A	ENST00000264234.3	+	3	329	c.180G>A	c.(178-180)tgG>tgA	p.W60*	UPK1B_ENST00000497685.1_5'UTR|UPK1B_ENST00000460625.1_Nonsense_Mutation_p.W60*	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	60					epithelial cell differentiation (GO:0030855)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		GGGCTGCCTGGATCGGCATAT	0.517																																						uc003ecc.2		NaN																	0					0						c.(178-180)TGG>TGA		uroplakin 1B							184.0	155.0	164.0					3																	118906732		2203	4300	6503	SO:0001587	stop_gained	7348				epithelial cell differentiation	integral to membrane	structural molecule activity	g.chr3:118906732G>A	AF082888	CCDS2985.1	3q13.32	2013-02-14			ENSG00000114638	ENSG00000114638		"""Tetraspanins"""	12578	protein-coding gene	gene with protein product		602380		UPK1		9935153, 9846985	Standard	NM_006952		Approved	TSPAN20	uc003ecc.3	O75841	OTTHUMG00000159354	ENST00000264234.3:c.180G>A	3.37:g.118906732G>A	ENSP00000264234:p.Trp60*					UPK1B_uc011bix.1_5'UTR|UPK1B_uc003ecd.2_Nonsense_Mutation_p.W60*	p.W60*	NM_006952	NP_008883	O75841	UPK1B_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	3	269	+			60			Extracellular (Potential).		O60753|Q9UIM2|Q9UNX6	Nonsense_Mutation	SNP	ENST00000264234.3	37	c.180G>A	CCDS2985.1	.	.	.	.	.	.	.	.	.	.	G	36	5.619976	0.96660	.	.	ENSG00000114638	ENST00000264234;ENST00000479520;ENST00000494855;ENST00000460625	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-36.2768	18.0522	0.89353	0.0:0.0:1.0:0.0	.	.	.	.	X	60	.	.	W	+	3	0	UPK1B	120389422	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.301000	0.65727	2.595000	0.87683	0.655000	0.94253	TGG		0.517	UPK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354883.2				71	153	0	0	0	1	0	71	153		
POLQ	10721	broad.mit.edu	37	3	121179028	121179028	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:121179028G>A	ENST00000264233.5	-	25	7149	c.7021C>T	c.(7021-7023)Cat>Tat	p.H2341Y		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2341					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGGGATAAATGAGCCAAGATC	0.428								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NaN																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(7021-7023)CAT>TAT	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							108.0	98.0	101.0					3																	121179028		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121179028G>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.7021C>T	3.37:g.121179028G>A	ENSP00000264233:p.His2341Tyr					POLQ_uc003eed.2_Missense_Mutation_p.H1513Y	p.H2341Y	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	25	7150	-			2341					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.7021C>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337238	0.60963	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	D	0.97016	-4.21	5.6	5.6	0.85130	DNA-directed DNA polymerase, family A, palm domain (2);	0.102895	0.64402	D	0.000003	D	0.98409	0.9471	M	0.87547	2.89	0.44295	D	0.997161	D;D	0.89917	1.0;1.0	D;D	0.91635	0.989;0.999	D	0.99170	1.0864	10	0.87932	D	0	.	19.6126	0.95616	0.0:0.0:1.0:0.0	.	2341;1513	O75417;O75417-2	DPOLQ_HUMAN;.	Y	1964;2341;2477	ENSP00000264233:H2341Y	ENSP00000264233:H2341Y	H	-	1	0	POLQ	122661718	1.000000	0.71417	0.995000	0.50966	0.008000	0.06430	9.070000	0.93974	2.630000	0.89119	0.591000	0.81541	CAT		0.428	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1		NM_199420		72	63	0	0	0	1	0	72	63		
POLQ	10721	broad.mit.edu	37	3	121187223	121187223	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:121187223G>C	ENST00000264233.5	-	23	6902	c.6774C>G	c.(6772-6774)atC>atG	p.I2258M		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2258					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTGGCATTTTGATTTCAAAAT	0.383								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NaN																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(6772-6774)ATC>ATG	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							163.0	166.0	165.0					3																	121187223		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121187223G>C	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6774C>G	3.37:g.121187223G>C	ENSP00000264233:p.Ile2258Met					POLQ_uc003eed.2_Missense_Mutation_p.I1430M	p.I2258M	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	23	6903	-			2258					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.6774C>G	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.194734	0.58017	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.57273	0.41	5.24	0.79	0.18613	.	0.096402	0.64402	D	0.000001	T	0.65407	0.2688	M	0.81802	2.56	0.28931	N	0.89159	D;D	0.89917	0.999;1.0	D;D	0.91635	0.946;0.999	T	0.58250	-0.7669	10	0.87932	D	0	.	2.8979	0.05696	0.4096:0.0:0.2571:0.3332	.	2258;1430	O75417;O75417-2	DPOLQ_HUMAN;.	M	1881;2258;2394	ENSP00000264233:I2258M	ENSP00000264233:I2258M	I	-	3	3	POLQ	122669913	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.014000	0.29950	0.263000	0.21812	-0.145000	0.13849	ATC		0.383	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1		NM_199420		81	140	0	0	0	1	0	81	140		
CD86	942	broad.mit.edu	37	3	121822489	121822489	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:121822489G>C	ENST00000330540.2	+	3	311	c.195G>C	c.(193-195)ctG>ctC	p.L65L	CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Silent_p.L59L|CD86_ENST00000493101.1_Intron|CD86_ENST00000483949.1_3'UTR|CD86_ENST00000469710.1_5'UTR	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	65	Ig-like V-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	ACTTGGTTCTGAATGAGGTAT	0.438																																					GBM(67;1379 1389 36064 39806)	uc003eet.2		NaN																	0				pancreas(1)|skin(1)	2						c.(193-195)CTG>CTC		CD86 antigen isoform 1	Abatacept(DB01281)						131.0	130.0	130.0					3																	121822489		2203	4300	6503	SO:0001819	synonymous_variant	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121822489G>C		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.195G>C	3.37:g.121822489G>C						CD86_uc011bjo.1_5'UTR|CD86_uc011bjp.1_Intron|CD86_uc003eeu.2_Silent_p.L59L	p.L65L	NM_175862	NP_787058	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	3	311	+			65			Ig-like V-type.|Extracellular (Potential).		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Silent	SNP	ENST00000330540.2	37	c.195G>C	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	G	2.175	-0.388872	0.04932	.	.	ENSG00000114013	ENST00000478741	.	.	.	5.54	0.445	0.16597	.	.	.	.	.	T	0.42899	0.1223	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23013	-1.0200	4	.	.	.	-8.8961	2.407	0.04415	0.1621:0.2902:0.4091:0.1387	.	.	.	.	Q	61	.	.	E	+	1	0	CD86	123305179	0.793000	0.28825	0.944000	0.38274	0.277000	0.26821	-0.370000	0.07523	0.118000	0.18165	0.655000	0.94253	GAA		0.438	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1		NM_006889		110	108	0	0	0	1	0	110	108		
ADCY5	111	broad.mit.edu	37	3	123019119	123019119	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:123019119G>A	ENST00000462833.1	-	15	3960	c.2748C>T	c.(2746-2748)ctC>ctT	p.L916L	ADCY5_ENST00000309879.5_Silent_p.L566L|ADCY5_ENST00000491190.1_Silent_p.L549L	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	916					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCAGCAGGCTGAGCAGCACGC	0.652																																						uc003egh.1		NaN																	0				ovary(4)	4						c.(2746-2748)CTC>CTT		adenylate cyclase 5							83.0	63.0	70.0					3																	123019119		2203	4300	6503	SO:0001819	synonymous_variant	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123019119G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2748C>T	3.37:g.123019119G>A						ADCY5_uc003egg.1_Silent_p.L549L|ADCY5_uc003egi.1_Silent_p.L475L	p.L916L	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	15	2748	-			916			Helical; (Potential).		B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	ENST00000462833.1	37	c.2748C>T	CCDS3022.1																																																																																				0.652	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4		XM_171048		44	40	0	0	0	1	0	44	40		
COL6A6	131873	broad.mit.edu	37	3	130287162	130287162	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:130287162G>C	ENST00000358511.6	+	5	2146	c.2115G>C	c.(2113-2115)ctG>ctC	p.L705L	COL6A6_ENST00000453409.2_Silent_p.L705L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	705	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTAGTGCCCTGAGCTTTGTGT	0.488																																						uc010htl.2		NaN																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(2113-2115)CTG>CTC		collagen type VI alpha 6 precursor							103.0	105.0	104.0					3																	130287162		1958	4131	6089	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130287162G>C	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2115G>C	3.37:g.130287162G>C							p.L705L	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			5	2146	+			705			Nonhelical region.|VWFA 4.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.2115G>C	CCDS46911.1																																																																																				0.488	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608		124	102	0	0	0	1	0	124	102		
PCOLCE2	26577	broad.mit.edu	37	3	142557645	142557645	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:142557645C>G	ENST00000295992.3	-	5	983	c.677G>C	c.(676-678)aGa>aCa	p.R226T	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.R226T	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	226	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTTTCCAATTCTTCTAGCATC	0.383																																						uc003evd.2		NaN																	0				ovary(2)|skin(1)	3						c.(676-678)AGA>ACA		procollagen C-endopeptidase enhancer 2							134.0	119.0	124.0					3																	142557645		2203	4300	6503	SO:0001583	missense	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142557645C>G	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.677G>C	3.37:g.142557645C>G	ENSP00000295992:p.Arg226Thr						p.R226T	NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN			5	873	-			226			CUB 2.		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	c.677G>C	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427794	0.62733	.	.	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.27720	1.65;1.65	5.77	5.77	0.91146	CUB (5);	0.000000	0.85682	D	0.000000	T	0.47154	0.1430	L	0.49126	1.545	0.80722	D	1	D	0.56035	0.974	P	0.57960	0.83	T	0.08722	-1.0708	10	0.30078	T	0.28	-26.2928	19.9712	0.97285	0.0:1.0:0.0:0.0	.	226	Q9UKZ9	PCOC2_HUMAN	T	226	ENSP00000295992:R226T;ENSP00000419842:R226T	ENSP00000295992:R226T	R	-	2	0	PCOLCE2	144040335	1.000000	0.71417	0.989000	0.46669	0.629000	0.37895	7.487000	0.81328	2.726000	0.93360	0.591000	0.81541	AGA		0.383	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1		NM_013363		73	83	0	0	0	1	0	73	83		
CPA3	1359	broad.mit.edu	37	3	148596271	148596271	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:148596271G>C	ENST00000296046.3	+	4	365	c.313G>C	c.(313-315)Gat>Cat	p.D105H	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	105					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GAAACAGTTTGATGTTAAAGA	0.338																																						uc003ewm.2		NaN																	0				breast(1)|skin(1)	2						c.(313-315)GAT>CAT		carboxypeptidase A3 precursor							81.0	83.0	82.0					3																	148596271		2203	4299	6502	SO:0001583	missense	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148596271G>C		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.313G>C	3.37:g.148596271G>C	ENSP00000296046:p.Asp105His						p.D105H	NM_001870	NP_001861	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		4	365	+			105					Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	c.313G>C	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025561	0.54683	.	.	ENSG00000163751	ENST00000296046	T	0.30714	1.52	5.04	4.16	0.48862	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (1);	0.000000	0.56097	D	0.000024	T	0.39462	0.1079	L	0.32530	0.975	0.54753	D	0.999986	D	0.89917	1.0	D	0.67725	0.953	T	0.22556	-1.0213	10	0.62326	D	0.03	.	9.2765	0.37703	0.1675:0.0:0.8325:0.0	.	105	P15088	CBPA3_HUMAN	H	105	ENSP00000296046:D105H	ENSP00000296046:D105H	D	+	1	0	CPA3	150078961	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.688000	0.46984	1.487000	0.48415	0.650000	0.86243	GAT		0.338	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1		NM_001870		86	66	0	0	0	1	0	86	66		
HPS3	84343	broad.mit.edu	37	3	148876575	148876575	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:148876575G>A	ENST00000296051.2	+	10	1954	c.1814G>A	c.(1813-1815)gGa>gAa	p.G605E	HPS3_ENST00000460120.1_Missense_Mutation_p.G440E	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	605					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TACGAGAGAGGATTAATCTTT	0.348									Hermansky-Pudlak syndrome																													uc003ewu.1		NaN																	0				ovary(5)|large_intestine(1)	6						c.(1813-1815)GGA>GAA		Hermansky-Pudlak syndrome 3 protein							83.0	88.0	86.0					3																	148876575		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148876575G>A	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1814G>A	3.37:g.148876575G>A	ENSP00000296051:p.Gly605Glu					HPS3_uc011bnq.1_Missense_Mutation_p.G440E|HPS3_uc003ewv.1_5'Flank	p.G605E	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		10	1954	+			605					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.1814G>A	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075045	0.76415	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	D;D	0.87809	-2.3;-2.3	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.92835	0.7721	M	0.63843	1.955	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92991	0.6415	10	0.72032	D	0.01	-16.085	19.6015	0.95563	0.0:0.0:1.0:0.0	.	440;605	G5E9V4;Q969F9	.;HPS3_HUMAN	E	605;440	ENSP00000296051:G605E;ENSP00000418230:G440E	ENSP00000296051:G605E	G	+	2	0	HPS3	150359265	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	8.234000	0.89801	2.719000	0.93026	0.650000	0.86243	GGA		0.348	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1		NM_032383		45	84	0	0	0	1	0	45	84		
KPNA4	3840	broad.mit.edu	37	3	160253311	160253311	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:160253311G>A	ENST00000334256.4	-	5	582	c.277C>T	c.(277-279)Caa>Taa	p.Q93*		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	93					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CTAGCAGCTTGAACTGCACTT	0.303																																						uc003fdn.2		NaN																	0					0						c.(277-279)CAA>TAA		karyopherin alpha 4							65.0	65.0	65.0					3																	160253311		2201	4296	6497	SO:0001587	stop_gained	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160253311G>A	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.277C>T	3.37:g.160253311G>A	ENSP00000334373:p.Gln93*						p.Q93*	NM_002268	NP_002259	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		5	583	-			93			ARM 1; truncated.		A8K4S6|D3DNM2|O00190	Nonsense_Mutation	SNP	ENST00000334256.4	37	c.277C>T	CCDS3191.1	.	.	.	.	.	.	.	.	.	.	G	38	7.034927	0.98017	.	.	ENSG00000186432	ENST00000334256	.	.	.	5.34	5.34	0.76211	.	0.119684	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	0.7651	19.2318	0.93843	0.0:0.0:1.0:0.0	.	.	.	.	X	93	.	ENSP00000334373:Q93X	Q	-	1	0	KPNA4	161736005	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.639000	0.83342	2.776000	0.95493	0.585000	0.79938	CAA		0.303	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1		NM_002268		31	22	0	0	0	1	0	31	22		
FNDC3B	64778	broad.mit.edu	37	3	172061902	172061902	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:172061902G>A	ENST00000336824.4	+	19	2203	c.2104G>A	c.(2104-2106)Gag>Aag	p.E702K	FNDC3B_ENST00000416957.1_Missense_Mutation_p.E702K|FNDC3B_ENST00000415807.2_Missense_Mutation_p.E702K	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	702	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AAGTGGCTGTGAGGTCTCAGA	0.517																																						uc003fhy.2		NaN																	0				ovary(2)|breast(1)	3						c.(2104-2106)GAG>AAG		fibronectin type III domain containing 3B							135.0	130.0	132.0					3																	172061902		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172061902G>A	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.2104G>A	3.37:g.172061902G>A	ENSP00000338523:p.Glu702Lys					FNDC3B_uc003fhz.3_Missense_Mutation_p.E702K	p.E702K	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	19	2276	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		702			Fibronectin type-III 5.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.2104G>A	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875309	0.51695	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.58210	0.35;0.35;0.35	5.81	4.89	0.63831	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.279720	0.40908	D	0.000983	T	0.42017	0.1184	L	0.28694	0.88	0.80722	D	1	B	0.16166	0.016	B	0.30029	0.11	T	0.18304	-1.0341	10	0.15499	T	0.54	-25.0777	13.7645	0.62986	0.0:0.3229:0.6771:0.0	.	702	Q53EP0	FND3B_HUMAN	K	702	ENSP00000411242:E702K;ENSP00000338523:E702K;ENSP00000389094:E702K	ENSP00000338523:E702K	E	+	1	0	FNDC3B	173544596	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.475000	0.60210	2.746000	0.94184	0.591000	0.81541	GAG		0.517	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2		NM_022763		148	132	0	0	0	1	0	148	132		
AP2M1	1173	broad.mit.edu	37	3	183898646	183898646	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:183898646G>A	ENST00000292807.5	+	6	587	c.439G>A	c.(439-441)Gag>Aag	p.E147K	AP2M1_ENST00000382456.3_Missense_Mutation_p.E145K|AP2M1_ENST00000411763.2_Missense_Mutation_p.E172K|AP2M1_ENST00000461733.1_3'UTR|AP2M1_ENST00000439647.1_Missense_Mutation_p.E145K|EIF2B5_ENST00000444495.1_Intron	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	147					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GACAAAAGAAGAGCAGTCACA	0.522																																						uc011bqx.1		NaN																	0					0						c.(439-441)GAG>AAG		adaptor-related protein complex 2, mu 1 subunit							151.0	159.0	156.0					3																	183898646		2042	4203	6245	SO:0001583	missense	1173				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity	g.chr3:183898646G>A	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.439G>A	3.37:g.183898646G>A	ENSP00000292807:p.Glu147Lys					AP2M1_uc003fmw.2_Missense_Mutation_p.E145K|AP2M1_uc003fmx.2_Missense_Mutation_p.E145K|AP2M1_uc003fmy.2_Missense_Mutation_p.E145K|AP2M1_uc011bqy.1_Missense_Mutation_p.E17K|AP2M1_uc011bqz.1_5'UTR	p.E147K	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		6	596	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		147					A6NE12|D3DNT1|P20172|P53679	Missense_Mutation	SNP	ENST00000292807.5	37	c.439G>A	CCDS43177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.63|18.63	3.665219|3.665219	0.67700|0.67700	.|.	.|.	ENSG00000161203|ENSG00000161203	ENST00000382456;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000448139;ENST00000439647;ENST00000432591|ENST00000431779	T;T;T;T|.	0.63255|.	-0.03;-0.02;-0.01;-0.03|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68677|0.68677	0.3027|0.3027	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	B;P;B;P|.	0.40032|.	0.029;0.574;0.001;0.699|.	B;B;B;B|.	0.35550|.	0.019;0.101;0.009;0.205|.	T|T	0.62520|0.62520	-0.6837|-0.6837	10|5	0.14656|.	T|.	0.56|.	.|.	19.6787|19.6787	0.95950|0.95950	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	17;147;172;145|.	B4DTI4;Q96CW1;E9PFW3;Q96CW1-2|.	.;AP2M1_HUMAN;.;.|.	K|K	145;172;147;87;132;149;145;147|177	ENSP00000371894:E145K;ENSP00000403362:E172K;ENSP00000292807:E147K;ENSP00000409081:E145K|.	ENSP00000292807:E147K|.	E|R	+|+	1|2	0|0	AP2M1|AP2M1	185381340|185381340	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	9.263000|9.263000	0.95617|0.95617	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.522	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1		NM_004068		238	250	0	0	0	1	0	238	250		
LEPREL1	55214	broad.mit.edu	37	3	189690804	189690804	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:189690804C>T	ENST00000319332.5	-	11	1755	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	LEPREL1_ENST00000427335.2_Missense_Mutation_p.E339K	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	520					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACTCGACCTTCATAACCAGAC	0.398																																						uc011bsk.1		NaN																	0				breast(3)|ovary(1)	4						c.(1558-1560)GAA>AAA		leprecan-like 1 isoform a	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						57.0	52.0	54.0					3																	189690804		2203	4300	6503	SO:0001583	missense	55214				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr3:189690804C>T		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1558G>A	3.37:g.189690804C>T	ENSP00000316881:p.Glu520Lys					LEPREL1_uc003fsg.2_Missense_Mutation_p.E339K	p.E520K	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	11	1946	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		520					B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	ENST00000319332.5	37	c.1558G>A	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831524	0.91036	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.36157	1.27;1.62	5.58	5.58	0.84498	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	L	0.37897	1.145	0.80722	D	1	B	0.28998	0.23	B	0.24269	0.052	T	0.04400	-1.0954	9	.	.	.	-20.0851	18.5624	0.91105	0.0:1.0:0.0:0.0	.	520	Q8IVL5	P3H2_HUMAN	K	520;339	ENSP00000316881:E520K;ENSP00000408947:E339K	.	E	-	1	0	LEPREL1	191173498	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.373000	0.79623	2.611000	0.88343	0.655000	0.94253	GAA		0.398	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1		NM_018192		40	38	0	0	0	1	0	40	38		
RNF168	165918	broad.mit.edu	37	3	196199142	196199142	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:196199142C>T	ENST00000318037.3	-	6	1858	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	422					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E422*(1)		NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		AAGTTTATTTCTGTTTCCTCT	0.378																																						uc003fwq.2		NaN																	1	Substitution - Nonsense(1)		large_intestine(1)		0						c.(1264-1266)GAA>AAA		ring finger protein 168							138.0	133.0	134.0					3																	196199142		2203	4300	6503	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196199142C>T	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.1264G>A	3.37:g.196199142C>T	ENSP00000320898:p.Glu422Lys					RNF168_uc010iah.2_Missense_Mutation_p.E255K|uc010iag.1_5'Flank	p.E422K	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	6	1802	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		422					Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.1264G>A	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.684751	0.29872	.	.	ENSG00000163961	ENST00000318037	T	0.06142	3.34	5.86	3.97	0.46021	.	0.454986	0.22735	N	0.056274	T	0.07324	0.0185	L	0.54323	1.7	0.32702	N	0.51278	B	0.27229	0.172	B	0.16289	0.015	T	0.04360	-1.0957	10	0.36615	T	0.2	-5.1268	10.9556	0.47356	0.0:0.7989:0.1303:0.0707	.	422	Q8IYW5	RN168_HUMAN	K	422	ENSP00000320898:E422K	ENSP00000320898:E422K	E	-	1	0	RNF168	197683539	0.996000	0.38824	0.987000	0.45799	0.426000	0.31534	1.976000	0.40579	1.480000	0.48289	0.591000	0.81541	GAA		0.378	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1		NM_152617		85	102	0	0	0	1	0	85	102		
PIGG	54872	broad.mit.edu	37	4	517589	517589	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:517589G>A	ENST00000453061.2	+	9	2062	c.1956G>A	c.(1954-1956)tgG>tgA	p.W652*	PIGG_ENST00000504346.1_Nonsense_Mutation_p.W563*|PIGG_ENST00000383028.4_Nonsense_Mutation_p.W519*|PIGG_ENST00000310340.5_Nonsense_Mutation_p.W644*|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	652					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						GCGAGAAGTGGATGGTGCTGG	0.657																																						uc003gak.3		NaN																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1954-1956)TGG>TGA		phosphatidylinositol glycan anchor biosynthesis,							30.0	27.0	28.0					4																	517589		2201	4291	6492	SO:0001587	stop_gained	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:517589G>A		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.1956G>A	4.37:g.517589G>A	ENSP00000415203:p.Trp652*					PIGG_uc003gaj.3_Nonsense_Mutation_p.W644*|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Nonsense_Mutation_p.W519*|PIGG_uc003gal.3_Nonsense_Mutation_p.W563*	p.W652*	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN			9	2092	+			652					B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Nonsense_Mutation	SNP	ENST00000453061.2	37	c.1956G>A	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	G	39	7.738931	0.98462	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028	.	.	.	5.55	4.7	0.59300	.	0.387144	0.35436	N	0.003209	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	14.4831	0.67597	0.0:0.1482:0.8518:0.0	.	.	.	.	X	644;652;563;519	.	ENSP00000311750:W644X	W	+	3	0	PIGG	507589	1.000000	0.71417	0.243000	0.24186	0.504000	0.33889	6.005000	0.70716	1.455000	0.47813	0.655000	0.94253	TGG		0.657	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1		NM_017733		28	15	0	0	0	1	0	28	15		
WHSC1	7468	broad.mit.edu	37	4	1918624	1918624	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:1918624C>T	ENST00000382895.3	+	6	1218	c.787C>T	c.(787-789)Cac>Tac	p.H263Y	WHSC1_ENST00000382891.5_Missense_Mutation_p.H263Y|WHSC1_ENST00000398261.1_Missense_Mutation_p.H263Y|WHSC1_ENST00000508803.1_Missense_Mutation_p.H263Y|WHSC1_ENST00000382892.2_Missense_Mutation_p.H263Y|WHSC1_ENST00000503128.1_Missense_Mutation_p.H263Y|WHSC1_ENST00000420906.2_Missense_Mutation_p.H263Y|WHSC1_ENST00000514045.1_Missense_Mutation_p.H263Y	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	263	PWWP 1. {ECO:0000255|PROSITE- ProRule:PRU00162}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		ACGCCAGTATCACGTACAGTT	0.383			T	IGH@	MM																																	uc003gdz.3		NaN		Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(787-789)CAC>TAC		Wolf-Hirschhorn syndrome candidate 1 protein							79.0	84.0	82.0					4																	1918624		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1918624C>T	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.787C>T	4.37:g.1918624C>T	ENSP00000372351:p.His263Tyr					WHSC1_uc003geb.3_Missense_Mutation_p.H263Y|WHSC1_uc003gec.3_Missense_Mutation_p.H263Y|WHSC1_uc003ged.3_Missense_Mutation_p.H263Y|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.H263Y|WHSC1_uc003gdy.1_Missense_Mutation_p.H263Y|WHSC1_uc010icd.1_Missense_Mutation_p.H263Y|WHSC1_uc003gea.1_Missense_Mutation_p.H263Y|WHSC1_uc010ice.1_Missense_Mutation_p.H263Y|WHSC1_uc003geh.1_Missense_Mutation_p.H263Y	p.H263Y	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	4	963	+		all_epithelial(65;1.34e-05)	263			PWWP 1.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.787C>T	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234985	0.79800	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	T;T;T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.25	5.25	0.73442	PWWP (3);	0.000000	0.64402	D	0.000010	D	0.83050	0.5170	M	0.67517	2.055	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.997;0.997	D;D;D;D	0.83275	0.933;0.996;0.933;0.933	T	0.81109	-0.1082	10	0.37606	T	0.19	.	19.0434	0.93011	0.0:1.0:0.0:0.0	.	263;263;263;263	O96028-3;O96028;O96028-5;O96028-6	.;NSD2_HUMAN;.;.	Y	263	ENSP00000423972:H263Y;ENSP00000421681:H263Y;ENSP00000372347:H263Y;ENSP00000372348:H263Y;ENSP00000399251:H263Y;ENSP00000372351:H263Y;ENSP00000425761:H263Y;ENSP00000422878:H263Y;ENSP00000381311:H263Y	ENSP00000308780:H263Y	H	+	1	0	WHSC1	1888422	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.149000	0.71795	2.717000	0.92951	0.655000	0.94253	CAC		0.383	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2		NM_133330		22	27	0	0	0	1	0	22	27		
HTT	3064	broad.mit.edu	37	4	3208581	3208581	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:3208581C>G	ENST00000355072.5	+	44	6091	c.5946C>G	c.(5944-5946)ctC>ctG	p.L1982L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1982					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGATCCATCTCAGCCAGTCGG	0.507																																						uc011bvq.1		NaN																	0				skin(2)|ovary(1)|lung(1)	4						c.(5950-5952)CTC>CTG		huntingtin							76.0	75.0	76.0					4																	3208581		1959	4158	6117	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3208581C>G	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5946C>G	4.37:g.3208581C>G							p.L1984L	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	45	6097	+		all_epithelial(65;0.18)	1982					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.5952C>G	CCDS43206.1																																																																																				0.507	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2		NM_002111		49	45	0	0	0	1	0	49	45		
RGS12	6002	broad.mit.edu	37	4	3432571	3432571	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:3432571G>C	ENST00000344733.5	+	17	4907	c.4003G>C	c.(4003-4005)Gag>Cag	p.E1335Q	RGS12_ENST00000336727.3_Missense_Mutation_p.E1335Q|RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.E1335Q|RGS12_ENST00000338806.4_Missense_Mutation_p.E687Q	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1335					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGTGGAGGATGAGCACGTGGC	0.692																																						uc003ggw.2		NaN																	0				skin(1)	1						c.(4003-4005)GAG>CAG		regulator of G-protein signalling 12 isoform 1							27.0	32.0	30.0					4																	3432571		2200	4297	6497	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3432571G>C	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.4003G>C	4.37:g.3432571G>C	ENSP00000339381:p.Glu1335Gln					RGS12_uc003ggv.2_Missense_Mutation_p.E1335Q|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.2_Missense_Mutation_p.E687Q|RGS12_uc011bvs.1_3'UTR|RGS12_uc003gha.2_Missense_Mutation_p.E677Q|RGS12_uc010icv.2_Missense_Mutation_p.E534Q	p.E1335Q	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	17	4907	+			1335					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.4003G>C	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346349	0.61073	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000338806	T;T;T;T	0.50813	1.2;1.21;1.21;0.73	4.61	3.77	0.43336	.	0.408050	0.26293	N	0.025202	T	0.56804	0.2010	L	0.57536	1.79	0.80722	D	1	P;P;P;D	0.58970	0.57;0.726;0.835;0.984	B;B;B;P	0.56127	0.444;0.444;0.258;0.792	T	0.58918	-0.7551	10	0.59425	D	0.04	-24.336	11.9722	0.53069	0.0842:0.0:0.9158:0.0	.	677;687;1335;1335	O14924-2;O14924-3;O14924;O14924-4	.;.;RGS12_HUMAN;.	Q	1335;1335;1335;687	ENSP00000339381:E1335Q;ENSP00000338509:E1335Q;ENSP00000372238:E1335Q;ENSP00000342133:E687Q	ENSP00000338509:E1335Q	E	+	1	0	RGS12	3402369	1.000000	0.71417	0.023000	0.16930	0.411000	0.31082	8.533000	0.90617	0.964000	0.38108	-0.119000	0.15052	GAG		0.692	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1		NM_002926		34	44	0	0	0	1	0	34	44		
EVC	2121	broad.mit.edu	37	4	5806484	5806484	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:5806484G>A	ENST00000264956.6	+	17	2661	c.2477G>A	c.(2476-2478)cGg>cAg	p.R826Q	EVC_ENST00000382674.2_Missense_Mutation_p.R826Q	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	826					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TACAAACTGCGGAAAAAGCAA	0.557																																						uc003gil.1		NaN																	0				ovary(1)|skin(1)	2						c.(2476-2478)CGG>CAG		Ellis van Creveld syndrome protein							131.0	127.0	128.0					4																	5806484		2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5806484G>A	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2477G>A	4.37:g.5806484G>A	ENSP00000264956:p.Arg826Gln					EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	p.R826Q	NM_153717	NP_714928	P57679	EVC_HUMAN			17	2661	+		Myeloproliferative disorder(84;0.117)	826						Missense_Mutation	SNP	ENST00000264956.6	37	c.2477G>A	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	G	5.391	0.257363	0.10239	.	.	ENSG00000072840	ENST00000264956;ENST00000382674	T;T	0.52526	0.66;0.66	4.89	2.78	0.32641	.	0.885835	0.09695	N	0.767889	T	0.37865	0.1019	L	0.49350	1.555	0.09310	N	0.999992	B	0.23490	0.086	B	0.16722	0.016	T	0.27297	-1.0078	10	0.15499	T	0.54	.	7.5571	0.27831	0.2336:0.0:0.7664:0.0	.	826	P57679	EVC_HUMAN	Q	826	ENSP00000264956:R826Q;ENSP00000372120:R826Q	ENSP00000264956:R826Q	R	+	2	0	EVC	5857385	0.510000	0.26171	0.681000	0.30009	0.052000	0.14988	0.171000	0.16685	1.061000	0.40601	0.563000	0.77884	CGG		0.557	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1				55	40	0	0	0	1	0	55	40		
GRPEL1	80273	broad.mit.edu	37	4	7065824	7065824	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:7065824C>A	ENST00000264954.4	-	2	353	c.189G>T	c.(187-189)gaG>gaT	p.E63D	GRPEL1_ENST00000514056.1_5'UTR	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	63					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenyl-nucleotide exchange factor activity (GO:0000774)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						ACTTGACCTTCTCTTCCAGGA	0.552																																						uc003gjy.1		NaN																	0					0						c.(187-189)GAG>GAT		GrpE-like 1, mitochondrial precursor							127.0	117.0	121.0					4																	7065824		2203	4300	6503	SO:0001583	missense	80273				protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding	g.chr4:7065824C>A	AF070525	CCDS3396.1	4p16	2008-02-05			ENSG00000109519	ENSG00000109519			19696	protein-coding gene	gene with protein product		606173				11311562	Standard	NM_025196		Approved	HMGE, FLJ25609	uc003gjy.1	Q9HAV7	OTTHUMG00000090495	ENST00000264954.4:c.189G>T	4.37:g.7065824C>A	ENSP00000264954:p.Glu63Asp					GRPEL1_uc003gjz.1_Missense_Mutation_p.E63D	p.E63D	NM_025196	NP_079472	Q9HAV7	GRPE1_HUMAN			2	230	-			63					B2R783|Q549M6	Missense_Mutation	SNP	ENST00000264954.4	37	c.189G>T	CCDS3396.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339156	0.41398	.	.	ENSG00000109519	ENST00000264954	.	.	.	4.3	2.51	0.30379	GrpE nucleotide exchange factor, coiled-coil (1);	0.000000	0.85682	D	0.000000	T	0.65004	0.2650	M	0.74881	2.28	0.54753	D	0.999981	D	0.71674	0.998	D	0.64321	0.924	T	0.64782	-0.6326	9	0.37606	T	0.19	.	2.7051	0.05160	0.2403:0.4916:0.0:0.2681	.	63	Q9HAV7	GRPE1_HUMAN	D	63	.	ENSP00000264954:E63D	E	-	3	2	GRPEL1	7116725	0.996000	0.38824	0.993000	0.49108	0.241000	0.25554	0.326000	0.19646	1.942000	0.56320	0.455000	0.32223	GAG		0.552	GRPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206983.2		NM_025196		57	35	1	0	4.09171e-25	1	4.31707e-25	57	35		
SLC2A9	56606	broad.mit.edu	37	4	9987351	9987351	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:9987351G>A	ENST00000264784.3	-	4	530	c.477C>T	c.(475-477)ctC>ctT	p.L159L	SLC2A9_ENST00000309065.3_Silent_p.L130L|SLC2A9_ENST00000506583.1_Silent_p.L130L	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	159					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CTCCTGCCTGGAGCGAGCAGG	0.493																																						uc003gmc.2		NaN																	0				ovary(3)	3						c.(475-477)CTC>CTT		solute carrier family 2, member 9 protein							89.0	86.0	87.0					4																	9987351		2203	4300	6503	SO:0001819	synonymous_variant	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9987351G>A	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.477C>T	4.37:g.9987351G>A						SLC2A9_uc003gmd.2_Silent_p.L130L	p.L159L	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN			4	538	-			159			Helical; Name=3; (Potential).		Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	ENST00000264784.3	37	c.477C>T	CCDS3407.1																																																																																				0.493	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1				20	67	0	0	0	1	0	20	67		
LRRC66	339977	broad.mit.edu	37	4	52861441	52861441	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:52861441C>G	ENST00000343457.3	-	4	1753	c.1747G>C	c.(1747-1749)Gaa>Caa	p.E583Q		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	583						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GCTGTTATTTCTCCGGAGAGG	0.498																																						uc003gzi.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1747-1749)GAA>CAA		leucine rich repeat containing 66							102.0	108.0	106.0					4																	52861441		2104	4271	6375	SO:0001583	missense	339977					integral to membrane		g.chr4:52861441C>G	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1747G>C	4.37:g.52861441C>G	ENSP00000341944:p.Glu583Gln						p.E583Q	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	1760	-			583						Missense_Mutation	SNP	ENST00000343457.3	37	c.1747G>C	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426356	0.43020	.	.	ENSG00000188993	ENST00000343457	T	0.36520	1.25	4.3	0.45	0.16624	.	1.103300	0.06896	N	0.805052	T	0.23451	0.0567	L	0.27053	0.805	0.09310	N	1	B	0.30914	0.3	B	0.25405	0.06	T	0.24870	-1.0148	10	0.62326	D	0.03	-0.1207	5.4177	0.16384	0.0:0.5046:0.3142:0.1813	.	583	Q68CR7	LRC66_HUMAN	Q	583	ENSP00000341944:E583Q	ENSP00000341944:E583Q	E	-	1	0	LRRC66	52556198	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	1.074000	0.30703	-0.054000	0.13266	-0.274000	0.10170	GAA		0.498	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1		NM_001024611		41	93	0	0	0	1	0	41	93		
PDGFRA	5156	broad.mit.edu	37	4	55161411	55161411	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:55161411C>T	ENST00000257290.5	+	23	3573	c.3242C>T	c.(3241-3243)tCa>tTa	p.S1081L	FIP1L1_ENST00000507166.1_Missense_Mutation_p.S841L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1081	Ser-rich.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	ATAGACTCTTCAGACCTGGTG	0.517			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NaN		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		0				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(3241-3243)TCA>TTA		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						152.0	139.0	144.0					4																	55161411		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55161411C>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.3242C>T	4.37:g.55161411C>T	ENSP00000257290:p.Ser1081Leu	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Missense_Mutation_p.S841L	p.S1081L	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		23	3573	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		1081			Ser-rich.|Cytoplasmic (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.3242C>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611737	0.87258	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.79033	-1.23;-1.07	5.84	5.84	0.93424	.	0.000000	0.27567	U	0.018788	T	0.81697	0.4877	L	0.44542	1.39	0.80722	D	1	D	0.63880	0.993	P	0.56343	0.796	T	0.76990	-0.2754	10	0.25106	T	0.35	.	20.1494	0.98083	0.0:1.0:0.0:0.0	.	1081	P16234	PGFRA_HUMAN	L	841;1081	ENSP00000423325:S841L;ENSP00000257290:S1081L	ENSP00000423325:S841L	S	+	2	0	FIP1L1;PDGFRA	54856168	1.000000	0.71417	0.999000	0.59377	0.813000	0.45954	6.155000	0.71833	2.769000	0.95229	0.462000	0.41574	TCA		0.517	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2		NM_006206		33	100	0	0	0	1	0	33	100		
EXOC1	55763	broad.mit.edu	37	4	56750054	56750054	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:56750054G>C	ENST00000381295.2	+	10	1638	c.1290G>C	c.(1288-1290)aaG>aaC	p.K430N	EXOC1_ENST00000346134.7_Missense_Mutation_p.K430N|RNU6-652P_ENST00000365488.1_RNA|EXOC1_ENST00000349598.6_Missense_Mutation_p.K430N	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	430					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AAGTTGCAAAGATCAAGATGA	0.284																																						uc003hbe.1		NaN																	0				ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6						c.(1288-1290)AAG>AAC		exocyst complex component 1 isoform 1							59.0	63.0	61.0					4																	56750054		2203	4299	6502	SO:0001583	missense	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56750054G>C	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1290G>C	4.37:g.56750054G>C	ENSP00000370695:p.Lys430Asn					EXOC1_uc003hbf.1_Missense_Mutation_p.K430N|EXOC1_uc003hbg.1_Missense_Mutation_p.K430N	p.K430N	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN			10	1448	+	Glioma(25;0.08)|all_neural(26;0.101)		430					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	37	c.1290G>C	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672204	0.67928	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.91	3.97	0.46021	.	0.044063	0.85682	D	0.000000	T	0.49201	0.1543	L	0.55213	1.73	0.58432	D	0.999999	P;B	0.44429	0.835;0.45	B;B	0.43728	0.429;0.394	T	0.47100	-0.9143	9	0.59425	D	0.04	.	8.6186	0.33847	0.2565:0.0:0.7435:0.0	.	430;430	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	N	430	.	ENSP00000326514:K430N	K	+	3	2	EXOC1	56444811	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.826000	0.39092	0.657000	0.30906	0.460000	0.39030	AAG		0.284	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1		NM_018261		20	21	0	0	0	1	0	20	21		
RUFY3	22902	broad.mit.edu	37	4	71588434	71588434	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:71588434C>G	ENST00000226328.4	+	1	707	c.144C>G	c.(142-144)atC>atG	p.I48M	RUFY3_ENST00000381006.3_Missense_Mutation_p.I48M|RUFY3_ENST00000417478.2_Intron|RUFY3_ENST00000536664.1_Missense_Mutation_p.I14M	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	48					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TGGATGACATCTCACTTACAC	0.527																																						uc003hfq.2		NaN																	0					0						c.(142-144)ATC>ATG		RUN and FYVE domain containing 3 isoform 2							176.0	145.0	155.0					4																	71588434		2203	4300	6503	SO:0001583	missense	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71588434C>G	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.144C>G	4.37:g.71588434C>G	ENSP00000226328:p.Ile48Met					RUFY3_uc003hfp.3_Intron|RUFY3_uc011cax.1_Missense_Mutation_p.I48M|RUFY3_uc003hfr.2_Missense_Mutation_p.I48M	p.I48M	NM_014961	NP_055776	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		1	739	+		all_hematologic(202;0.248)	48					B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	c.144C>G	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943357	0.73672	.	.	ENSG00000018189	ENST00000381006;ENST00000226328;ENST00000536664	T;T;T	0.13778	2.95;2.56;2.63	5.51	5.51	0.81932	.	0.231734	0.27971	U	0.017101	T	0.28732	0.0712	L	0.29908	0.895	0.47094	D	0.999316	D;D;D	0.69078	0.989;0.997;0.98	P;D;D	0.80764	0.892;0.994;0.924	T	0.01578	-1.1320	10	0.54805	T	0.06	-1.4051	19.4131	0.94683	0.0:1.0:0.0:0.0	.	14;48;48	B4DKC2;Q7L099-3;Q7L099	.;.;RUFY3_HUMAN	M	48;48;14	ENSP00000370394:I48M;ENSP00000226328:I48M;ENSP00000443652:I14M	ENSP00000226328:I48M	I	+	3	3	RUFY3	71807298	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.604000	0.61112	2.590000	0.87494	0.555000	0.69702	ATC		0.527	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2		NM_014961		67	59	0	0	0	1	0	67	59		
RUFY3	22902	broad.mit.edu	37	4	71634327	71634327	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:71634327G>C	ENST00000226328.4	+	5	1208	c.645G>C	c.(643-645)ctG>ctC	p.L215L	RUFY3_ENST00000381006.3_Silent_p.L215L|RUFY3_ENST00000502653.1_Silent_p.L162L|RUFY3_ENST00000417478.2_Silent_p.L275L|RUFY3_ENST00000536664.1_Silent_p.L199L	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	215	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TGGTGGGTCTGAATGTCATTG	0.438																																						uc003hfq.2		NaN																	0					0						c.(643-645)CTG>CTC		RUN and FYVE domain containing 3 isoform 2							214.0	202.0	206.0					4																	71634327		2203	4300	6503	SO:0001819	synonymous_variant	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71634327G>C	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.645G>C	4.37:g.71634327G>C						RUFY3_uc003hfp.3_Silent_p.L275L|RUFY3_uc011cax.1_Silent_p.L233L|RUFY3_uc003hfr.2_Silent_p.L215L|RUFY3_uc011cay.1_Silent_p.L151L	p.L215L	NM_014961	NP_055776	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		5	1240	+		all_hematologic(202;0.248)	215			RUN.		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Silent	SNP	ENST00000226328.4	37	c.645G>C	CCDS3547.1																																																																																				0.438	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2		NM_014961		70	69	0	0	0	1	0	70	69		
FRAS1	80144	broad.mit.edu	37	4	79400752	79400752	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:79400752G>C	ENST00000264895.6	+	56	8763	c.8323G>C	c.(8323-8325)Gat>Cat	p.D2775H		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2771					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGCCTTGGCAGATGCCTCTGA	0.527																																						uc003hlb.2		NaN																	0				large_intestine(5)	5						c.(8323-8325)GAT>CAT		Fraser syndrome 1							105.0	109.0	108.0					4																	79400752		2060	4205	6265	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79400752G>C	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8323G>C	4.37:g.79400752G>C	ENSP00000264895:p.Asp2775His						p.D2775H	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			56	8763	+			2770			Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.8323G>C	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.725|8.725	0.915201|0.915201	0.17907|0.17907	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.28895|.	1.59|.	5.94|5.94	5.1|5.1	0.69264|0.69264	.|.	0.423309|.	0.24433|.	N|.	0.038574|.	T|T	0.72179|0.72179	0.3428|0.3428	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	P|.	0.60345|.	0.873|.	T|T	0.71573|0.71573	-0.4552|-0.4552	10|5	0.44086|.	T|.	0.13|.	.|.	17.053|17.053	0.86525|0.86525	0.0:0.1363:0.8637:0.0|0.0:0.1363:0.8637:0.0	.|.	2775|.	E9PHH6|.	.|.	H|T	2775|1003	ENSP00000264895:D2775H|.	ENSP00000264895:D2775H|.	D|R	+|+	1|2	0|0	FRAS1|FRAS1	79619776|79619776	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.011000|0.011000	0.07611|0.07611	6.625000|6.625000	0.74248|0.74248	1.513000|1.513000	0.48852|0.48852	-0.227000|-0.227000	0.12334|0.12334	GAT|AGA		0.527	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					28	49	0	0	0	1	0	28	49		
HPSE	10855	broad.mit.edu	37	4	84223345	84223345	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:84223345C>T	ENST00000405413.2	-	11	1419	c.1283G>A	c.(1282-1284)aGa>aAa	p.R428K	HPSE_ENST00000513463.1_Missense_Mutation_p.R370K|HPSE_ENST00000512196.1_Missense_Mutation_p.R354K|HPSE_ENST00000311412.5_Missense_Mutation_p.R428K	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	428					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	AAGCTTCCTTCTCTTTGAACC	0.423																																						uc003hoj.3		NaN																	0				ovary(1)	1						c.(1282-1284)AGA>AAA		heparanase precursor	Heparin(DB01109)						207.0	176.0	187.0					4																	84223345		2203	4300	6503	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84223345C>T	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.1283G>A	4.37:g.84223345C>T	ENSP00000384262:p.Arg428Lys					HPSE_uc010ika.2_Missense_Mutation_p.R370K|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.R171K|HPSE_uc011cct.1_Missense_Mutation_p.R354K|HPSE_uc003hok.3_Missense_Mutation_p.R428K	p.R428K	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	10	1382	-		Hepatocellular(203;0.114)	428					A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.1283G>A	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	C	9.227	1.034864	0.19590	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.42900	0.96;0.96;0.99;0.97	4.67	0.586	0.17434	.	0.609935	0.17267	N	0.180542	T	0.26376	0.0644	L	0.45581	1.43	0.09310	N	1	B;B;B;B	0.22683	0.073;0.004;0.007;0.001	B;B;B;B	0.17979	0.02;0.001;0.003;0.001	T	0.31971	-0.9924	10	0.05436	T	0.98	-0.531	6.9411	0.24492	0.0:0.4198:0.4047:0.1755	.	354;370;370;428	E9PCA9;A9JIG7;E9PGR1;Q9Y251	.;.;.;HPSE_HUMAN	K	428;428;354;370	ENSP00000308107:R428K;ENSP00000384262:R428K;ENSP00000423265:R354K;ENSP00000421365:R370K	ENSP00000308107:R428K	R	-	2	0	HPSE	84442369	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.409000	0.07160	0.193000	0.20303	-0.175000	0.13238	AGA		0.423	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2		NM_006665		31	61	0	0	0	1	0	31	61		
SPP1	6696	broad.mit.edu	37	4	88902684	88902684	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:88902684G>T	ENST00000395080.3	+	6	401	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000237623.7_Missense_Mutation_p.D78Y|SPP1_ENST00000360804.4_Missense_Mutation_p.D65Y	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	92					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		GGATGATGAAGATGATGATGA	0.428																																						uc003hra.2		NaN																	0				ovary(1)	1						c.(274-276)GAT>TAT		secreted phosphoprotein 1 isoform a							260.0	239.0	246.0					4																	88902684		2203	4300	6503	SO:0001583	missense	6696				biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity	g.chr4:88902684G>T		CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"""Endogenous ligands"""	11255	protein-coding gene	gene with protein product	"""early T-lymphocyte activation 1"""	166490	"""osteopontin"", ""bone sialoprotein I"""	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.274G>T	4.37:g.88902684G>T	ENSP00000378517:p.Asp92Tyr					SPP1_uc003hrb.2_Missense_Mutation_p.D65Y|SPP1_uc003hrc.2_Missense_Mutation_p.D78Y|SPP1_uc011cde.1_Missense_Mutation_p.D105Y|SPP1_uc003hrd.2_Missense_Mutation_p.D51Y	p.D92Y	NM_001040058	NP_001035147	P10451	OSTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)	6	439	+		Hepatocellular(203;0.114)	92					B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Missense_Mutation	SNP	ENST00000395080.3	37	c.274G>T	CCDS43250.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470830	0.63625	.	.	ENSG00000118785	ENST00000359072;ENST00000535912;ENST00000237623;ENST00000395080;ENST00000360804;ENST00000508233	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.36	5.36	0.76844	.	0.527164	0.18930	N	0.127231	T	0.58779	0.2146	L	0.52573	1.65	0.25024	N	0.991311	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.999	D;D;D;D;D	0.72338	0.975;0.966;0.966;0.977;0.966	T	0.52990	-0.8501	10	0.72032	D	0.01	-14.1951	14.9446	0.71020	0.0:0.0:1.0:0.0	.	105;51;78;65;92	B7Z351;Q3LGB0;B2RDA1;Q567T5;P10451	.;.;.;.;OSTP_HUMAN	Y	92;51;78;92;65;51	ENSP00000237623:D78Y;ENSP00000378517:D92Y;ENSP00000354042:D65Y;ENSP00000422973:D51Y	ENSP00000237623:D78Y	D	+	1	0	SPP1	89121708	0.400000	0.25295	0.034000	0.17996	0.077000	0.17291	2.869000	0.48444	2.676000	0.91093	0.637000	0.83480	GAT		0.428	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253048.3				128	91	1	0	3.41882e-60	1	3.66387e-60	128	91		
CCSER1	401145	broad.mit.edu	37	4	91230191	91230191	+	Silent	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:91230191C>G	ENST00000509176.1	+	2	1044	c.756C>G	c.(754-756)acC>acG	p.T252T	CCSER1_ENST00000333691.8_Silent_p.T252T|CCSER1_ENST00000432775.2_Silent_p.T252T	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	252																	CTGATCTTACCACAGCTCAGA	0.438																																						uc003hsv.3		NaN																	0				large_intestine(1)|ovary(1)	2						c.(754-756)ACC>ACG		KIAA1680 protein isoform 1							108.0	101.0	103.0					4																	91230191		1872	4112	5984	SO:0001819	synonymous_variant	401145							g.chr4:91230191C>G		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.756C>G	4.37:g.91230191C>G						FAM190A_uc003hsu.3_Silent_p.T252T|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Silent_p.T252T	p.T252T	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN			2	1096	+			252					Q4W5M0|Q86V57	Silent	SNP	ENST00000509176.1	37	c.756C>G	CCDS47099.1																																																																																				0.438	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3		NM_001145065		32	57	0	0	0	1	0	32	57		
PDLIM5	10611	broad.mit.edu	37	4	95583676	95583676	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:95583676C>T	ENST00000317968.4	+	12	1825	c.1689C>T	c.(1687-1689)tgC>tgT	p.C563C	PDLIM5_ENST00000542407.1_Silent_p.C441C|PDLIM5_ENST00000437932.1_Silent_p.C454C|PDLIM5_ENST00000514743.1_Silent_p.C592C|PDLIM5_ENST00000380176.3_3'UTR	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	563	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		ATGACACTTGCTTTGTATGCT	0.408																																						uc003hti.2		NaN																	0				ovary(1)|skin(1)	2						c.(1687-1689)TGC>TGT		PDZ and LIM domain 5 isoform a							133.0	128.0	129.0					4																	95583676		2203	4300	6503	SO:0001819	synonymous_variant	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95583676C>T	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.1689C>T	4.37:g.95583676C>T						PDLIM5_uc011cdx.1_Silent_p.C460C|PDLIM5_uc003hth.2_Silent_p.C454C|PDLIM5_uc003htj.2_Silent_p.C238C|PDLIM5_uc003htk.2_Silent_p.C592C|PDLIM5_uc011cdy.1_Silent_p.C441C|PDLIM5_uc003htl.2_Silent_p.C238C	p.C563C	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	12	1840	+		Hepatocellular(203;0.114)	563			LIM zinc-binding 3.		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Silent	SNP	ENST00000317968.4	37	c.1689C>T	CCDS3641.1																																																																																				0.408	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1				57	27	0	0	0	1	0	57	27		
SLC9B1	150159	broad.mit.edu	37	4	103832596	103832596	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:103832596C>T	ENST00000296422.7	-	8	1069	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	SLC9B1_ENST00000512651.2_Intron|SLC9B1_ENST00000394789.3_Missense_Mutation_p.E310K	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	310					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										ACCTGGTCTTCACTTGGAAAA	0.299																																						uc003hww.2		NaN																	0				ovary(1)|skin(1)	2						c.(928-930)GAA>AAA		Na+/H+ exchanger domain containing 1 isoform 1							28.0	29.0	28.0					4																	103832596		1997	3857	5854	SO:0001583	missense	150159					integral to membrane	solute:hydrogen antiporter activity	g.chr4:103832596C>T	AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.928G>A	4.37:g.103832596C>T	ENSP00000296422:p.Glu310Lys					NHEDC1_uc003hwu.2_Missense_Mutation_p.E310K|NHEDC1_uc010ilm.2_Missense_Mutation_p.E77K|NHEDC1_uc003hwv.2_RNA|NHEDC1_uc011cev.1_Missense_Mutation_p.E83K	p.E310K	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)	8	1050	-		Hepatocellular(203;0.217)	310					A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	c.928G>A	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	C	1.129	-0.653027	0.03480	.	.	ENSG00000164037	ENST00000394789;ENST00000296422;ENST00000511253;ENST00000514340	T;T;T;T	0.20881	2.53;2.53;2.5;2.04	4.36	-4.92	0.03075	.	1.748690	0.02812	N	0.124481	T	0.11452	0.0279	N	0.16567	0.415	0.19300	N	0.999977	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.11329	0.006;0.006;0.006	T	0.39354	-0.9618	10	0.05833	T	0.94	0.0739	11.1344	0.48367	0.0:0.2868:0.0:0.7132	.	78;310;310	Q4ZJI4-2;Q4ZJI4;Q4ZJI4-3	.;SL9B1_HUMAN;.	K	310;310;35;253	ENSP00000378269:E310K;ENSP00000296422:E310K;ENSP00000425544:E35K;ENSP00000426056:E253K	ENSP00000296422:E310K	E	-	1	0	SLC9B1	104052045	0.016000	0.18221	0.074000	0.20217	0.631000	0.37964	-0.106000	0.10890	-0.958000	0.03622	0.585000	0.79938	GAA		0.299	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1		NM_139173		17	34	0	0	0	1	0	17	34		
DKK2	27123	broad.mit.edu	37	4	107845202	107845202	+	Missense_Mutation	SNP	C	C	T	rs539488952		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:107845202C>T	ENST00000285311.3	-	4	1394	c.689G>A	c.(688-690)cGt>cAt	p.R230H	DKK2_ENST00000510463.1_Missense_Mutation_p.R184H|DKK2_ENST00000513208.1_Missense_Mutation_p.R130H	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	230	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.R230H(3)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ACAGTCGCAACGCTGGAAAAT	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		18840	0.001		0.0	False		,,,				2504	0.0					uc003hyi.2		NaN																	3	Substitution - Missense(3)		large_intestine(2)|prostate(1)	ovary(3)|lung(1)|skin(1)	5						c.(688-690)CGT>CAT		dickkopf homolog 2 precursor							161.0	147.0	152.0					4																	107845202		2203	4300	6503	SO:0001583	missense	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107845202C>T	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.689G>A	4.37:g.107845202C>T	ENSP00000285311:p.Arg230His					DKK2_uc003hyj.1_3'UTR	p.R230H	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	4	1394	-		Hepatocellular(203;0.217)	230			DKK-type Cys-2.		A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	c.689G>A	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897895	0.91962	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.57595	0.39;0.52;0.54	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	M	0.81341	2.54	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.77051	-0.2731	10	0.59425	D	0.04	-11.8314	19.6876	0.95986	0.0:1.0:0.0:0.0	.	230	Q9UBU2	DKK2_HUMAN	H	230;130;184	ENSP00000285311:R230H;ENSP00000421255:R130H;ENSP00000423797:R184H	ENSP00000285311:R230H	R	-	2	0	DKK2	108064651	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.487000	0.81328	2.657000	0.90304	0.585000	0.79938	CGT		0.488	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4				47	100	0	0	0	1	0	47	100		
SGMS2	166929	broad.mit.edu	37	4	108824404	108824404	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:108824404C>T	ENST00000394684.4	+	5	1146	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	SGMS2_ENST00000359079.4_Nonsense_Mutation_p.Q197*|SGMS2_ENST00000394686.3_Nonsense_Mutation_p.Q197*|RP11-286E11.1_ENST00000499098.1_RNA|RP11-286E11.1_ENST00000513071.1_RNA	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	197					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		TGGAGACTCTCAGGCAAAAGT	0.408																																						uc003hyl.3		NaN																	0				lung(1)	1						c.(589-591)CAG>TAG		sphingomyelin synthase 2	Choline(DB00122)						195.0	187.0	190.0					4																	108824404		2203	4300	6503	SO:0001587	stop_gained	166929				sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr4:108824404C>T	BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.589C>T	4.37:g.108824404C>T	ENSP00000378176:p.Gln197*					uc003hym.1_Intron|SGMS2_uc003hyn.2_Nonsense_Mutation_p.Q197*|SGMS2_uc003hyo.2_Nonsense_Mutation_p.Q197*	p.Q197*	NM_001136258	NP_001129730	Q8NHU3	SMS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	5	1144	+			197					A8K2S9|B2RA61	Nonsense_Mutation	SNP	ENST00000394684.4	37	c.589C>T	CCDS3677.1	.	.	.	.	.	.	.	.	.	.	C	35	5.510797	0.96386	.	.	ENSG00000164023	ENST00000394684;ENST00000503862;ENST00000359079;ENST00000394686	.	.	.	5.46	5.46	0.80206	.	0.350521	0.33875	N	0.004479	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-2.8126	12.6352	0.56679	0.0:0.9246:0.0:0.0753	.	.	.	.	X	197;24;197;197	.	ENSP00000351981:Q197X	Q	+	1	0	SGMS2	109043853	0.994000	0.37717	1.000000	0.80357	0.763000	0.43281	3.013000	0.49582	2.556000	0.86216	0.650000	0.86243	CAG		0.408	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1		NM_152621		49	133	0	0	0	1	0	49	133		
NDST4	64579	broad.mit.edu	37	4	115750948	115750948	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:115750948C>G	ENST00000264363.2	-	13	3175	c.2497G>C	c.(2497-2499)Gag>Cag	p.E833Q		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	833	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)		ATTATTACCTCTGGATCCATA	0.343																																						uc003ibu.2		NaN																	0				skin(3)|ovary(1)	4						c.(2497-2499)GAG>CAG		heparan sulfate N-deacetylase/N-sulfotransferase							76.0	78.0	77.0					4																	115750948		2202	4299	6501	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115750948C>G	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.2497G>C	4.37:g.115750948C>G	ENSP00000264363:p.Glu833Gln					NDST4_uc010imw.2_RNA	p.E833Q	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	13	3176	-		Ovarian(17;0.156)	833			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.2497G>C	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188884	0.57909	.	.	ENSG00000138653	ENST00000264363	T	0.57595	0.39	5.59	5.59	0.84812	Sulfotransferase domain (1);	0.049868	0.85682	D	0.000000	T	0.52693	0.1750	L	0.46947	1.48	0.52501	D	0.999951	B	0.20887	0.049	B	0.29267	0.1	T	0.44174	-0.9345	10	0.37606	T	0.19	.	19.951	0.97199	0.0:1.0:0.0:0.0	.	833	Q9H3R1	NDST4_HUMAN	Q	833	ENSP00000264363:E833Q	ENSP00000264363:E833Q	E	-	1	0	NDST4	115970397	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.539000	0.53604	2.782000	0.95742	0.637000	0.83480	GAG		0.343	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1		NM_022569		32	13	0	0	0	1	0	32	13		
EXOSC9	5393	broad.mit.edu	37	4	122737544	122737544	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:122737544G>C	ENST00000243498.5	+	11	1285	c.1177G>C	c.(1177-1179)Gat>Cat	p.D393H	EXOSC9_ENST00000512454.1_Missense_Mutation_p.D377H|EXOSC9_ENST00000379663.3_Missense_Mutation_p.D410H	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	393					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						AATACTCTCAGATAGTGAAGA	0.244																																						uc003iea.2		NaN																	0					0						c.(1177-1179)GAT>CAT		exosome component 9 isoform 2							64.0	70.0	68.0					4																	122737544		2193	4295	6488	SO:0001583	missense	5393				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr4:122737544G>C	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.1177G>C	4.37:g.122737544G>C	ENSP00000243498:p.Asp393His					EXOSC9_uc003idz.2_Missense_Mutation_p.D410H|EXOSC9_uc003ieb.2_Missense_Mutation_p.D377H	p.D393H	NM_005033	NP_005024	Q06265	EXOS9_HUMAN			11	1285	+			393					Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	ENST00000243498.5	37	c.1177G>C	CCDS3722.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545574	0.86022	.	.	ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000512454	T;T;T	0.39997	1.07;1.16;1.05	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.63710	0.2534	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.62440	-0.6854	10	0.72032	D	0.01	-22.5823	18.844	0.92196	0.0:0.0:1.0:0.0	.	377;393;410	D6RIY6;Q06265;Q06265-2	.;EXOS9_HUMAN;.	H	393;410;377	ENSP00000243498:D393H;ENSP00000368984:D410H;ENSP00000425782:D377H	ENSP00000243498:D393H	D	+	1	0	EXOSC9	122956994	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.607000	0.82883	2.894000	0.99253	0.655000	0.94253	GAT		0.244	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2		NM_005033		14	36	0	0	0	1	0	14	36		
MFSD8	256471	broad.mit.edu	37	4	128878746	128878746	+	Splice_Site	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:128878746C>G	ENST00000296468.3	-	3	191	c.64G>C	c.(64-66)Gaa>Caa	p.E22Q	MFSD8_ENST00000515130.1_Splice_Site|MFSD8_ENST00000541133.1_5'UTR|MFSD8_ENST00000513559.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	22					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						ATGTCCCATTCTCTAGGTGTA	0.308																																						uc003ifp.2		NaN																	0				ovary(1)|liver(1)	2						c.(64-66)GAA>CAA		major facilitator superfamily domain containing							93.0	101.0	98.0					4																	128878746		2203	4295	6498	SO:0001630	splice_region_variant	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128878746C>G	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.63-1G>C	4.37:g.128878746C>G						MFSD8_uc011cgu.1_5'UTR|MFSD8_uc011cgv.1_Missense_Mutation_p.E22Q|MFSD8_uc011cgw.1_RNA|MFSD8_uc011cgx.1_5'UTR	p.E22Q	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN			3	227	-			22			Cytoplasmic (Potential).		B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	ENST00000296468.3	37	c.64G>C	CCDS3736.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734229	0.30684	.	.	ENSG00000164073	ENST00000296468	D	0.85556	-2.0	4.78	3.9	0.45041	.	0.677027	0.14173	N	0.336571	T	0.74481	0.3722	L	0.36672	1.1	0.80722	D	1	B;B	0.13594	0.008;0.003	B;B	0.09377	0.004;0.002	T	0.65907	-0.6054	10	0.18710	T	0.47	-9.7023	6.0348	0.19702	0.0:0.6871:0.2089:0.1039	.	22;22	B7Z280;Q8NHS3	.;MFSD8_HUMAN	Q	22	ENSP00000296468:E22Q	ENSP00000296468:E22Q	E	-	1	0	MFSD8	129098196	0.994000	0.37717	1.000000	0.80357	0.577000	0.36160	0.499000	0.22546	2.465000	0.83290	0.655000	0.94253	GAA		0.308	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1		NM_152778	Missense_Mutation	59	55	0	0	0	1	0	59	55		
GUCY1B3	2983	broad.mit.edu	37	4	156726374	156726374	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:156726374G>C	ENST00000264424.8	+	13	1911	c.1829G>C	c.(1828-1830)gGa>gCa	p.G610A	GUCY1B3_ENST00000502959.1_Missense_Mutation_p.G632A|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.G577A|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.G542A|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.G585A|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.G542A|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.G590A	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	610					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AAAAATACAGGAACAGAGGTA	0.358																																						uc003ipc.2		NaN																	0					0						c.(1828-1830)GGA>GCA		guanylate cyclase 1, soluble, beta 3							40.0	36.0	37.0					4																	156726374		1844	4091	5935	SO:0001583	missense	2983				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	g.chr4:156726374G>C	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.1829G>C	4.37:g.156726374G>C	ENSP00000264424:p.Gly610Ala					GUCY1B3_uc011cio.1_Missense_Mutation_p.G632A|GUCY1B3_uc011cip.1_Missense_Mutation_p.G590A|GUCY1B3_uc003ipd.2_Missense_Mutation_p.G538A|GUCY1B3_uc010iqf.2_Missense_Mutation_p.G577A|GUCY1B3_uc010iqg.2_Missense_Mutation_p.G581A|GUCY1B3_uc011ciq.1_Missense_Mutation_p.G538A	p.G610A	NM_000857	NP_000848	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	13	1996	+	all_hematologic(180;0.24)	Renal(120;0.0854)	610					B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	c.1829G>C	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	G	1.142	-0.649098	0.03506	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	D;D;D;T;D;T;D	0.82619	-1.62;-1.63;-1.63;-1.24;-1.63;-1.14;-1.62	5.74	1.57	0.23409	.	0.571717	0.18326	N	0.144647	T	0.54775	0.1879	N	0.02916	-0.46	0.36073	D	0.842238	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	0.50276	-0.8847	10	0.06365	T	0.9	.	6.6672	0.23047	0.6383:0.0:0.3617:0.0	.	590;632;585;577;610	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	A	542;632;590;585;610;577;542	ENSP00000427226:G542A;ENSP00000426786:G632A;ENSP00000426319:G590A;ENSP00000422313:G585A;ENSP00000264424:G610A;ENSP00000420842:G577A;ENSP00000425065:G542A	ENSP00000264424:G610A	G	+	2	0	GUCY1B3	156945824	1.000000	0.71417	0.197000	0.23402	0.995000	0.86356	1.447000	0.35101	0.370000	0.24538	0.650000	0.86243	GGA		0.358	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2				11	2	0	0	0	1	0	11	2		
DDX60	55601	broad.mit.edu	37	4	169204637	169204637	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:169204637G>C	ENST00000393743.3	-	13	1973	c.1682C>G	c.(1681-1683)tCa>tGa	p.S561*		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	561					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATCCTTCTTTGACTTAATAGT	0.333																																						uc003irp.2		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1681-1683)TCA>TGA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							66.0	68.0	67.0					4																	169204637		2203	4300	6503	SO:0001587	stop_gained	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169204637G>C	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1682C>G	4.37:g.169204637G>C	ENSP00000377344:p.Ser561*						p.S561*	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	13	1974	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	561					Q6PK35|Q9NVE3	Nonsense_Mutation	SNP	ENST00000393743.3	37	c.1682C>G	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	G	36	5.743881	0.96873	.	.	ENSG00000137628	ENST00000393743	.	.	.	4.29	2.45	0.29901	.	0.968787	0.08479	N	0.939817	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.1387	0.59423	0.0:0.4699:0.5301:0.0	.	.	.	.	X	561	.	ENSP00000377344:S561X	S	-	2	0	DDX60	169441212	0.002000	0.14202	0.232000	0.24009	0.041000	0.13682	0.381000	0.20619	0.483000	0.27608	0.563000	0.77884	TCA		0.333	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1		NM_017631		28	25	0	0	0	1	0	28	25		
SH3RF1	57630	broad.mit.edu	37	4	170028027	170028027	+	Missense_Mutation	SNP	C	C	G	rs200527865		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr4:170028027C>G	ENST00000284637.9	-	11	2810	c.2469G>C	c.(2467-2469)ttG>ttC	p.L823F		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	823					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TAGACTCATTCAAGACAGGAC	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		20582	0.001		0.0	False		,,,				2504	0.0					uc003isa.1		NaN																	0				breast(2)|lung(1)	3						c.(2467-2469)TTG>TTC		SH3 domain containing ring finger 1							61.0	66.0	64.0					4																	170028027		2185	4248	6433	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170028027C>G	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.2469G>C	4.37:g.170028027C>G	ENSP00000284637:p.Leu823Phe						p.L823F	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	11	2804	-		Prostate(90;0.00267)|Renal(120;0.0183)	823					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.2469G>C	CCDS34099.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	4.189	0.033668	0.08101	.	.	ENSG00000154447	ENST00000284637	T	0.18174	2.23	5.87	-0.0842	0.13691	Src homology-3 domain (1);	0.993065	0.08205	N	0.981620	T	0.14700	0.0355	L	0.51422	1.61	0.09310	N	0.999995	B	0.23540	0.087	B	0.25405	0.06	T	0.43310	-0.9399	10	0.12766	T	0.61	-0.0132	7.7063	0.28653	0.094:0.312:0.4804:0.1135	.	823	Q7Z6J0	SH3R1_HUMAN	F	823	ENSP00000284637:L823F	ENSP00000284637:L823F	L	-	3	2	SH3RF1	170264602	0.132000	0.22450	0.000000	0.03702	0.000000	0.00434	0.172000	0.16704	-0.376000	0.07943	-0.909000	0.02823	TTG		0.483	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3		NM_020870		61	54	0	0	0	1	0	61	54		
ADCY2	108	broad.mit.edu	37	5	7414837	7414837	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:7414837G>T	ENST00000338316.4	+	2	451	c.362G>T	c.(361-363)gGa>gTa	p.G121V		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	121					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GTTGCCATGGGATACCTGTTC	0.428																																						uc003jdz.1		NaN																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(361-363)GGA>GTA		adenylate cyclase 2							252.0	214.0	227.0					5																	7414837		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7414837G>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.362G>T	5.37:g.7414837G>T	ENSP00000342952:p.Gly121Val						p.G121V	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			2	429	+			121			Helical; (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.362G>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163332	0.38217	.	.	ENSG00000078295	ENST00000338316	T	0.76968	-1.06	5.0	3.17	0.36434	.	0.116304	0.64402	D	0.000017	D	0.84719	0.5534	M	0.68317	2.08	0.80722	D	1	D	0.71674	0.998	D	0.64595	0.927	D	0.85264	0.1052	10	0.72032	D	0.01	.	13.1955	0.59736	0.0:0.3412:0.6588:0.0	.	121	Q08462	ADCY2_HUMAN	V	121	ENSP00000342952:G121V	ENSP00000342952:G121V	G	+	2	0	ADCY2	7467837	1.000000	0.71417	0.591000	0.28745	0.184000	0.23303	4.982000	0.63825	0.579000	0.29504	-0.300000	0.09419	GGA		0.428	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2		NM_020546		33	31	1	0	8.16721e-17	1	8.45692e-17	33	31		
SEMA5A	9037	broad.mit.edu	37	5	9066645	9066645	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:9066645G>C	ENST00000382496.5	-	17	2852	c.2187C>G	c.(2185-2187)ttC>ttG	p.F729L		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	729	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATGTGTATCGGAATCGTTGCT	0.557																																						uc003jek.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2185-2187)TTC>TTG		semaphorin 5A precursor							158.0	148.0	151.0					5																	9066645		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9066645G>C	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2187C>G	5.37:g.9066645G>C	ENSP00000371936:p.Phe729Leu						p.F729L	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			17	2899	-			729			TSP type-1 4.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2187C>G	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527981	0.64860	.	.	ENSG00000112902	ENST00000382496	T	0.33438	1.41	5.52	2.23	0.28157	.	0.000000	0.85682	D	0.000000	T	0.33702	0.0872	L	0.58510	1.815	0.58432	D	0.999998	P	0.46784	0.884	B	0.43155	0.41	T	0.26121	-1.0112	10	0.72032	D	0.01	.	14.5121	0.67794	0.0905:0.0:0.9095:0.0	.	729	Q13591	SEM5A_HUMAN	L	729	ENSP00000371936:F729L	ENSP00000371936:F729L	F	-	3	2	SEMA5A	9119645	1.000000	0.71417	0.956000	0.39512	0.343000	0.28985	4.404000	0.59735	0.198000	0.20407	0.591000	0.81541	TTC		0.557	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2				129	79	0	0	0	1	0	129	79		
MYO10	4651	broad.mit.edu	37	5	16668556	16668556	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:16668556G>A	ENST00000513610.1	-	40	6359	c.5905C>T	c.(5905-5907)Cag>Tag	p.Q1969*	MYO10_ENST00000505695.1_Nonsense_Mutation_p.Q1308*|MYO10_ENST00000274203.9_Nonsense_Mutation_p.Q1326*|MYO10_ENST00000515803.1_Nonsense_Mutation_p.Q1308*|MYO10_ENST00000427430.2_Nonsense_Mutation_p.Q1326*	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1969	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CAGAGTTCCTGAGGGAAGCCA	0.512																																						uc003jft.3		NaN																	0				ovary(2)|pancreas(1)	3						c.(5905-5907)CAG>TAG		myosin X							38.0	39.0	39.0					5																	16668556		2035	4216	6251	SO:0001587	stop_gained	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16668556G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5905C>T	5.37:g.16668556G>A	ENSP00000421280:p.Gln1969*					MYO10_uc011cnb.1_Nonsense_Mutation_p.Q598*|MYO10_uc011cnc.1_Nonsense_Mutation_p.Q848*|MYO10_uc011cnd.1_Nonsense_Mutation_p.Q1326*|MYO10_uc011cne.1_Nonsense_Mutation_p.Q1326*|MYO10_uc010itx.2_Nonsense_Mutation_p.Q1591*	p.Q1969*	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			40	6373	-			1969			FERM.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Nonsense_Mutation	SNP	ENST00000513610.1	37	c.5905C>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	49	15.255482	0.99827	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	19.2099	0.93749	0.0:0.0:1.0:0.0	.	.	.	.	X	1969;1308;1326;1308;1326	.	ENSP00000274203:Q1326X	Q	-	1	0	MYO10	16721556	0.967000	0.33354	1.000000	0.80357	0.971000	0.66376	2.087000	0.41653	2.532000	0.85374	0.591000	0.81541	CAG		0.512	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1		NM_012334		15	9	0	0	0	1	0	15	9		
OSMR	9180	broad.mit.edu	37	5	38884065	38884065	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:38884065G>A	ENST00000274276.3	+	5	957	c.555G>A	c.(553-555)caG>caA	p.Q185Q	OSMR_ENST00000502536.1_Silent_p.Q185Q	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	185					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AAGGGAAACAGATTCATGGAG	0.373																																						uc003jln.1		NaN																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(553-555)CAG>CAA		oncostatin M receptor precursor							137.0	126.0	129.0					5																	38884065		2203	4300	6503	SO:0001819	synonymous_variant	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38884065G>A	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.555G>A	5.37:g.38884065G>A						OSMR_uc003jlm.1_Silent_p.Q185Q	p.Q185Q	NM_003999	NP_003990	Q99650	OSMR_HUMAN			5	922	+	all_lung(31;0.000365)		185			Extracellular (Potential).		Q6P4E8|Q96QJ6	Silent	SNP	ENST00000274276.3	37	c.555G>A	CCDS3928.1																																																																																				0.373	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2		NM_003999		62	27	0	0	0	1	0	62	27		
PAIP1	10605	broad.mit.edu	37	5	43543211	43543211	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:43543211G>C	ENST00000306846.3	-	4	861	c.629C>G	c.(628-630)tCt>tGt	p.S210C	PAIP1_ENST00000436644.2_Missense_Mutation_p.S131C|PAIP1_ENST00000338972.4_Missense_Mutation_p.S98C|PAIP1_ENST00000514514.1_Missense_Mutation_p.S131C	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	210	MIF4G.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					ATTTGGGATAGATGTGGCCTT	0.358																																						uc003job.2		NaN																	0				ovary(1)	1						c.(628-630)TCT>TGT		poly(A) binding protein interacting protein 1							60.0	63.0	62.0					5																	43543211		2203	4300	6503	SO:0001583	missense	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43543211G>C	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.629C>G	5.37:g.43543211G>C	ENSP00000302768:p.Ser210Cys					PAIP1_uc003joa.2_Missense_Mutation_p.S131C|PAIP1_uc010ivp.2_Missense_Mutation_p.S131C|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.S98C	p.S210C	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN			4	876	-	Lung NSC(6;2.07e-05)		210			MIF4G.		A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	c.629C>G	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135615	0.56828	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514;ENST00000511321;ENST00000508537	T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89	5.34	5.34	0.76211	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.168937	0.53938	D	0.000048	T	0.47875	0.1469	M	0.72894	2.215	0.58432	D	0.999999	D;D;P	0.64830	0.972;0.994;0.586	B;P;B	0.57468	0.421;0.821;0.282	T	0.49652	-0.8917	10	0.66056	D	0.02	-19.1139	19.0344	0.92971	0.0:0.0:1.0:0.0	.	131;210;131	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	C	210;131;98;131;98;98	ENSP00000302768:S210C;ENSP00000387729:S131C;ENSP00000339622:S98C;ENSP00000425084:S131C;ENSP00000425675:S98C;ENSP00000425736:S98C	ENSP00000302768:S210C	S	-	2	0	PAIP1	43578968	1.000000	0.71417	0.998000	0.56505	0.738000	0.42128	9.388000	0.97237	2.494000	0.84150	0.585000	0.79938	TCT		0.358	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1		NM_006451		22	17	0	0	0	1	0	22	17		
SETD9	133383	broad.mit.edu	37	5	56207012	56207012	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:56207012C>G	ENST00000285947.2	+	2	501	c.115C>G	c.(115-117)Cca>Gca	p.P39A	SETD9_ENST00000541720.1_Missense_Mutation_p.P39A|AC008937.3_ENST00000453721.1_RNA|SETD9_ENST00000475908.1_Intron	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	39							methyltransferase activity (GO:0008168)										CCGATATGTTCCAGAGGAATC	0.383																																						uc003jqx.2		NaN																	0				ovary(1)	1						c.(115-117)CCA>GCA		hypothetical protein LOC133383							45.0	48.0	47.0					5																	56207012		2191	4297	6488	SO:0001583	missense	133383							g.chr5:56207012C>G	BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 35"""	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.115C>G	5.37:g.56207012C>G	ENSP00000285947:p.Pro39Ala					C5orf35_uc003jqy.2_Intron	p.P39A	NM_153706	NP_714917	Q8NE22	CE035_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;2.58e-39)	2	488	+		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.173)	39					F5H713	Missense_Mutation	SNP	ENST00000285947.2	37	c.115C>G	CCDS3972.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963385	0.34659	.	.	ENSG00000155542	ENST00000285947;ENST00000541720;ENST00000423328	T;T	0.32023	1.48;1.47	5.57	3.76	0.43208	.	0.265497	0.37136	N	0.002226	T	0.31544	0.0800	M	0.64997	1.995	0.22896	N	0.998596	B	0.10296	0.003	B	0.10450	0.005	T	0.21793	-1.0235	10	0.45353	T	0.12	-4.3688	12.1322	0.53950	0.1356:0.7341:0.1303:0.0	.	39	Q8NE22	CE035_HUMAN	A	39;39;13	ENSP00000285947:P39A;ENSP00000442886:P39A	ENSP00000285947:P39A	P	+	1	0	C5orf35	56242769	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.883000	0.39658	0.702000	0.31825	0.655000	0.94253	CCA		0.383	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132304.2		NM_153706		41	23	0	0	0	1	0	41	23		
MAST4	375449	broad.mit.edu	37	5	66459046	66459046	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:66459046C>G	ENST00000403625.2	+	29	4334	c.4039C>G	c.(4039-4041)Cgg>Ggg	p.R1347G	MAST4_ENST00000403666.1_Missense_Mutation_p.R1158G|MAST4_ENST00000261569.7_Missense_Mutation_p.R1153G|MAST4_ENST00000405643.1_Missense_Mutation_p.R1168G|MAST4_ENST00000404260.3_Missense_Mutation_p.R1350G	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1350						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CGGGCACATCCGGCCCAGCAC	0.632																																						uc003jut.1		NaN																	0				lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(3472-3474)CGG>GGG		microtubule associated serine/threonine kinase							95.0	107.0	103.0					5																	66459046		1973	4145	6118	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66459046C>G	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.4039C>G	5.37:g.66459046C>G	ENSP00000385727:p.Arg1347Gly					MAST4_uc003juw.2_Missense_Mutation_p.R1086G|MAST4_uc003jux.2_5'Flank	p.R1158G	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	28	3540	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1350					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.3472C>G	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.08|16.08	3.020218|3.020218	0.54576|0.54576	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	.|T;T;T;T;T	.|0.36157	.|1.27;1.27;1.27;1.27;1.27	5.89|5.89	4.94|4.94	0.65067|0.65067	.|.	.|0.060678	.|0.64402	.|D	.|0.000007	T|T	0.65995|0.65995	0.2745|0.2745	M|M	0.89904|0.89904	3.07|3.07	0.36872|0.36872	D|D	0.888987|0.888987	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.998;1.0	T|T	0.76334|0.76334	-0.2997|-0.2997	5|10	.|0.87932	.|D	.|0	-10.4335|-10.4335	13.7833|13.7833	0.63094|0.63094	0.2605:0.7395:0.0:0.0|0.2605:0.7395:0.0:0.0	.|.	.|1350;1158	.|O15021;O15021-3	.|MAST4_HUMAN;.	R|G	403|1350;1347;1158;1168;1168;1153	.|ENSP00000385048:R1350G;ENSP00000385727:R1347G;ENSP00000384313:R1158G;ENSP00000384099:R1168G;ENSP00000261569:R1153G	.|ENSP00000261569:R1153G	P|R	+|+	2|1	0|2	MAST4|MAST4	66494802|66494802	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.426000|0.426000	0.31534|0.31534	2.098000|2.098000	0.41757|0.41757	2.814000|2.814000	0.96858|0.96858	0.650000|0.650000	0.86243|0.86243	CCG|CGG		0.632	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2				66	255	0	0	0	1	0	66	255		
BDP1	55814	broad.mit.edu	37	5	70855922	70855922	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:70855922C>T	ENST00000358731.4	+	37	7617	c.7354C>T	c.(7354-7356)Cct>Tct	p.P2452S	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2452					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATCTAGATCTCCTGATGCATG	0.438																																						uc003kbp.1		NaN																	0				skin(2)	2						c.(7354-7356)CCT>TCT		transcription factor-like nuclear regulator							128.0	117.0	120.0					5																	70855922		1951	4157	6108	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70855922C>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.7354C>T	5.37:g.70855922C>T	ENSP00000351575:p.Pro2452Ser					BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA	p.P2452S	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	37	7617	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2452					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.7354C>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	0.196	-1.048904	0.01981	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.03496	3.91	5.15	0.68	0.17980	.	0.736777	0.11615	N	0.546305	T	0.02970	0.0088	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.43956	-0.9359	10	0.37606	T	0.19	.	5.1372	0.14941	0.0:0.5445:0.1577:0.2977	.	2452	A6H8Y1	BDP1_HUMAN	S	2452;2000	ENSP00000351575:P2452S	ENSP00000351575:P2452S	P	+	1	0	BDP1	70891678	0.000000	0.05858	0.028000	0.17463	0.048000	0.14542	-0.020000	0.12525	0.180000	0.19960	0.585000	0.79938	CCT		0.438	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2		NM_018429		49	34	0	0	0	1	0	49	34		
TNPO1	3842	broad.mit.edu	37	5	72188999	72188999	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:72188999G>A	ENST00000337273.5	+	16	2248	c.1822G>A	c.(1822-1824)Gga>Aga	p.G608R	TNPO1_ENST00000523768.1_Missense_Mutation_p.G558R|TNPO1_ENST00000454282.1_Missense_Mutation_p.G558R|TNPO1_ENST00000506351.2_Missense_Mutation_p.G600R	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	608					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ACTGCAGTCTGGATTCCTTCC	0.398																																						uc003kck.3		NaN																	0				skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7						c.(1822-1824)GGA>AGA		transportin 1 isoform 1							177.0	164.0	168.0					5																	72188999		2203	4300	6503	SO:0001583	missense	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72188999G>A	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1822G>A	5.37:g.72188999G>A	ENSP00000336712:p.Gly608Arg					TNPO1_uc011csj.1_Missense_Mutation_p.G558R|TNPO1_uc003kch.2_Missense_Mutation_p.G600R|TNPO1_uc003kci.3_Missense_Mutation_p.G600R|TNPO1_uc003kcg.3_Missense_Mutation_p.G600R	p.G608R	NM_002270	NP_002261	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	16	1969	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	608					B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	c.1822G>A	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973649	0.92919	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68842	0.3045	M	0.86178	2.8	0.80722	D	1	D;D	0.71674	0.974;0.998	P;D	0.64144	0.903;0.922	T	0.73132	-0.4079	10	0.87932	D	0	-9.2565	20.0205	0.97499	0.0:0.0:1.0:0.0	.	558;608	Q92973-3;Q92973	.;TNPO1_HUMAN	R	608;558;558;600;119	ENSP00000336712:G608R;ENSP00000398524:G558R;ENSP00000428899:G558R;ENSP00000425118:G600R	ENSP00000336712:G608R	G	+	1	0	TNPO1	72224755	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.439000	0.97543	2.801000	0.96364	0.650000	0.86243	GGA		0.398	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3		NM_002270		46	140	0	0	0	1	0	46	140		
THBS4	7060	broad.mit.edu	37	5	79366148	79366148	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:79366148G>C	ENST00000350881.2	+	11	1557	c.1367G>C	c.(1366-1368)gGa>gCa	p.G456A	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.G365A|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	456	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGTTGGGCTGGAGATGGCTAT	0.562																																						uc003kgh.2		NaN																	0					0						c.(1366-1368)GGA>GCA		thrombospondin 4 precursor							100.0	94.0	96.0					5																	79366148		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79366148G>C		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1367G>C	5.37:g.79366148G>C	ENSP00000339730:p.Gly456Ala					uc003kgi.3_Intron	p.G456A	NM_003248	NP_003239	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	12	1690	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	456			EGF-like 4.		B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.1367G>C	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147018	0.77888	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;T	0.90504	-2.68;-0.97	5.45	5.45	0.79879	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96266	0.8782	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96438	0.9324	10	0.87932	D	0	-26.3265	19.4782	0.94998	0.0:0.0:1.0:0.0	.	456	P35443	TSP4_HUMAN	A	456;365	ENSP00000339730:G456A;ENSP00000422298:G365A	ENSP00000339730:G456A	G	+	2	0	THBS4	79401904	1.000000	0.71417	0.990000	0.47175	0.418000	0.31294	9.657000	0.98554	2.838000	0.97847	0.655000	0.94253	GGA		0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1				15	76	0	0	0	1	0	15	76		
MSH3	4437	broad.mit.edu	37	5	80150118	80150118	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:80150118G>C	ENST00000265081.6	+	21	3063	c.2983G>C	c.(2983-2985)Gag>Cag	p.E995Q		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	995					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGCTACACTTGAGTATTTCAT	0.328								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	uc003kgz.2		NaN																	0				lung(2)|ovary(1)|breast(1)	4						c.(2983-2985)GAG>CAG	MMR	mutS homolog 3							123.0	114.0	117.0					5																	80150118		2203	4300	6503	SO:0001583	missense	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:80150118G>C	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2983G>C	5.37:g.80150118G>C	ENSP00000265081:p.Glu995Gln						p.E995Q	NM_002439	NP_002430	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	21	3236	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	995					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	c.2983G>C	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871318	0.72065	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.86694	-2.16	5.25	5.25	0.73442	DNA mismatch repair protein MutS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91968	0.7456	L	0.52905	1.665	0.54753	D	0.999984	D	0.89917	1.0	D	0.91635	0.999	D	0.91048	0.4876	9	.	.	.	-23.3043	18.8381	0.92171	0.0:0.0:1.0:0.0	.	995	P20585	MSH3_HUMAN	Q	995;986	ENSP00000265081:E995Q	.	E	+	1	0	MSH3	80185874	1.000000	0.71417	0.988000	0.46212	0.771000	0.43674	9.869000	0.99810	2.454000	0.82982	0.655000	0.94253	GAG		0.328	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1		NM_002439		35	106	0	0	0	1	0	35	106		
RASGRF2	5924	broad.mit.edu	37	5	80422972	80422972	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:80422972G>C	ENST00000265080.4	+	17	2743	c.2676G>C	c.(2674-2676)ggG>ggC	p.G892G		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	892					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CAGGACATGGGAGTCCACCAG	0.512																																						uc003kha.1		NaN																	0				breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.(2674-2676)GGG>GGC		Ras protein-specific guanine							53.0	55.0	54.0					5																	80422972		2203	4300	6503	SO:0001819	synonymous_variant	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80422972G>C	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2676G>C	5.37:g.80422972G>C						RASGRF2_uc011ctn.1_RNA	p.G892G	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	17	2676	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	892					B9EG89|Q9UK56	Silent	SNP	ENST00000265080.4	37	c.2676G>C	CCDS4052.1																																																																																				0.512	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2		NM_006909		17	53	0	0	0	1	0	17	53		
CETN3	1070	broad.mit.edu	37	5	89701566	89701566	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:89701566C>G	ENST00000283122.3	-	3	328	c.204G>C	c.(202-204)aaG>aaC	p.K68N	CETN3_ENST00000522842.1_Missense_Mutation_p.K68N|CETN3_ENST00000522864.1_Missense_Mutation_p.K68N|CETN3_ENST00000522565.1_Missense_Mutation_p.K68N|CETN3_ENST00000522083.1_Missense_Mutation_p.K68N	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	68	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centrosome cycle (GO:0007098)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|photoreceptor connecting cilium (GO:0032391)	calcium ion binding (GO:0005509)			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		CTTTAAGAATCTTCAGTACAT	0.338																																						uc003kjo.2		NaN																	0					0						c.(202-204)AAG>AAC		centrin 3							102.0	100.0	100.0					5																	89701566		2202	4298	6500	SO:0001583	missense	1070				cell division|centrosome cycle|mitosis	centriole	calcium ion binding	g.chr5:89701566C>G	Y12473	CCDS4066.1, CCDS75274.1	5q14.3	2013-01-10	2010-06-24		ENSG00000153140	ENSG00000153140		"""EF-hand domain containing"""	1868	protein-coding gene	gene with protein product	"""CDC31 yeast homolog"", ""EF-hand superfamily member"""	602907	"""centrin, EF-hand protein, 3 (CDC31 yeast homolog)"""			9256449	Standard	XM_006714521		Approved	CEN3	uc003kjo.3	O15182	OTTHUMG00000131326	ENST00000283122.3:c.204G>C	5.37:g.89701566C>G	ENSP00000283122:p.Lys68Asn						p.K68N	NM_004365	NP_004356	O15182	CETN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)	3	329	-		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	68			EF-hand 2.		Q53YD2|Q9BS23	Missense_Mutation	SNP	ENST00000283122.3	37	c.204G>C	CCDS4066.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089741	0.76756	.	.	ENSG00000153140	ENST00000283122;ENST00000522083;ENST00000522864;ENST00000522565;ENST00000522842	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	6.03	4.27	0.50696	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71005	0.3289	M	0.61387	1.9	0.58432	D	0.999998	P	0.47545	0.897	P	0.48795	0.59	T	0.71513	-0.4570	10	0.72032	D	0.01	.	7.3463	0.26666	0.0:0.6751:0.0:0.3248	.	68	O15182	CETN3_HUMAN	N	68	ENSP00000283122:K68N;ENSP00000428259:K68N;ENSP00000430361:K68N;ENSP00000430409:K68N;ENSP00000429875:K68N	ENSP00000283122:K68N	K	-	3	2	CETN3	89737322	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.983000	0.40648	0.885000	0.36088	0.655000	0.94253	AAG		0.338	CETN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254097.1		NM_004365		38	35	0	0	0	1	0	38	35		
GPR98	84059	broad.mit.edu	37	5	89943435	89943435	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:89943435G>A	ENST00000405460.2	+	17	3239	c.3143G>A	c.(3142-3144)aGa>aAa	p.R1048K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1048	Calx-beta 8. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTACTGCAAGAGAGAGAGAT	0.423																																						uc003kju.2		NaN																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(3142-3144)AGA>AAA		G protein-coupled receptor 98 precursor							179.0	168.0	171.0					5																	89943435		1919	4130	6049	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89943435G>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3143G>A	5.37:g.89943435G>A	ENSP00000384582:p.Arg1048Lys					GPR98_uc003kjt.2_5'UTR	p.R1048K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	17	3239	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1048			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.3143G>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	0.672	-0.801565	0.02841	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.26957	1.7	5.49	0.254	0.15557	Na-Ca exchanger/integrin-beta4 (2);	0.804158	0.11456	N	0.562267	T	0.15262	0.0368	L	0.27053	0.805	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.32534	-0.9903	10	0.20519	T	0.43	.	8.0311	0.30465	0.6799:0.0:0.3201:0.0	.	1048	Q8WXG9	GPR98_HUMAN	K	1048	ENSP00000384582:R1048K	ENSP00000296619:R1048K	R	+	2	0	GPR98	89979191	0.000000	0.05858	0.006000	0.13384	0.010000	0.07245	0.082000	0.14847	0.110000	0.17919	0.650000	0.86243	AGA		0.423	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		36	92	0	0	0	1	0	36	92		
FAM170A	340069	broad.mit.edu	37	5	118965403	118965403	+	5'UTR	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:118965403C>G	ENST00000515256.1	+	0	112							A1A519	F170A_HUMAN	family with sequence similarity 170, member A						positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						AAGGGCCAATCTACAGGAAAA	0.398																																						uc003ksm.2		NaN																	0				skin(1)	1						c.(-62--58)ATCTA>ATGTA		family with sequence similarity 170, member A							69.0	59.0	62.0					5																	118965403		692	1591	2283	SO:0001623	5_prime_UTR_variant	340069					intracellular	zinc ion binding	g.chr5:118965403C>G	AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.-61C>G	5.37:g.118965403C>G						FAM170A_uc003ksl.2_Translation_Start_Site|FAM170A_uc003ksn.2_Translation_Start_Site|FAM170A_uc003kso.2_Translation_Start_Site		NM_182761	NP_877438	A1A519	F170A_HUMAN			1	150	+								Q66LM8|Q7Z4V2|Q8IW94	Translation_Start_Site	SNP	ENST00000515256.1	37	c.-60C>G																																																																																					0.398	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1		NM_182761		25	26	0	0	0	1	0	25	26		
LMNB1	4001	broad.mit.edu	37	5	126147468	126147468	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:126147468G>C	ENST00000261366.5	+	5	1178	c.817G>C	c.(817-819)Gag>Cag	p.E273Q	LMNB1_ENST00000395354.1_Missense_Mutation_p.E273Q|LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	273	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		CTTTTAGCTTGAGAATGCCAG	0.423																																						uc003kud.1		NaN																	0				kidney(1)|central_nervous_system(1)	2						c.(817-819)GAG>CAG		lamin B1							93.0	85.0	88.0					5																	126147468		2203	4300	6503	SO:0001583	missense	4001				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity	g.chr5:126147468G>C	L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"""Intermediate filaments type V, lamins"""	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.817G>C	5.37:g.126147468G>C	ENSP00000261366:p.Glu273Gln					LMNB1_uc003kuc.2_Missense_Mutation_p.E273Q|LMNB1_uc010jdb.1_RNA|LMNB1_uc011cxb.1_Missense_Mutation_p.E63Q	p.E273Q	NM_005573	NP_005564	P20700	LMNB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)	5	1185	+		all_cancers(142;0.103)|Prostate(80;0.081)	273			Rod.|Coil 2.		B2R6J6|Q3SYN7|Q96EI6	Missense_Mutation	SNP	ENST00000261366.5	37	c.817G>C	CCDS4140.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958350	0.92726	.	.	ENSG00000113368	ENST00000261366;ENST00000395354	D;D	0.90069	-2.61;-2.61	5.75	5.75	0.90469	Filament (1);	0.000000	0.85682	D	0.000000	D	0.90861	0.7129	L	0.59436	1.845	0.80722	D	1	P	0.45986	0.87	P	0.53988	0.739	D	0.86553	0.1836	10	0.07325	T	0.83	.	19.9365	0.97143	0.0:0.0:1.0:0.0	.	273	P20700	LMNB1_HUMAN	Q	273	ENSP00000261366:E273Q;ENSP00000378761:E273Q	ENSP00000261366:E273Q	E	+	1	0	LMNB1	126175367	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.961000	0.87903	2.721000	0.93114	0.585000	0.79938	GAG		0.423	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2		NM_005573		30	28	0	0	0	1	0	30	28		
AFF4	27125	broad.mit.edu	37	5	132270097	132270097	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:132270097C>A	ENST00000265343.5	-	3	1039	c.660G>T	c.(658-660)tgG>tgT	p.W220C	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.W220C	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	220	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGGAGAATCCCAGTTTGCAT	0.448																																					Ovarian(126;889 1733 2942 10745 11605)	uc003kyd.2		NaN																	0				ovary(2)|kidney(2)|skin(1)	5						c.(658-660)TGG>TGT		ALL1 fused gene from 5q31							119.0	112.0	114.0					5																	132270097		2203	4300	6503	SO:0001583	missense	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132270097C>A	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.660G>T	5.37:g.132270097C>A	ENSP00000265343:p.Trp220Cys					AFF4_uc011cxk.1_5'UTR|AFF4_uc003kye.1_Missense_Mutation_p.W220C|AFF4_uc003kyf.3_Missense_Mutation_p.W220C	p.W220C	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	1068	-		all_cancers(142;0.145)|Breast(839;0.198)	220			Ser-rich.		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	c.660G>T	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706500	0.68615	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.64085	-0.08;-0.08	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.78502	0.4293	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.995;0.998;0.998	T	0.77435	-0.2589	10	0.51188	T	0.08	-4.1437	19.8761	0.96870	0.0:1.0:0.0:0.0	.	220;220;220	Q9UHB7-3;Q9UHB7-2;Q9UHB7	.;.;AFF4_HUMAN	C	220	ENSP00000265343:W220C;ENSP00000367858:W220C	ENSP00000265343:W220C	W	-	3	0	AFF4	132297996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.015000	0.70791	2.704000	0.92352	0.557000	0.71058	TGG		0.448	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1		NM_014423		33	49	1	0	9.17885e-22	1	9.56911e-22	33	49		
PCDHA5	56143	broad.mit.edu	37	5	140202695	140202695	+	Silent	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:140202695C>A	ENST00000529859.1	+	1	1335	c.1335C>A	c.(1333-1335)gcC>gcA	p.A445A	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.A445A|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.A445A	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	445	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAAGTGGCCGACGTGAACG	0.657																																						uc003lhl.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(1333-1335)GCC>GCA		protocadherin alpha 5 isoform 1 precursor							77.0	80.0	79.0					5																	140202695		2203	4300	6503	SO:0001819	synonymous_variant	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140202695C>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1335C>A	5.37:g.140202695C>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.A445A|PCDHA5_uc003lhj.1_Silent_p.A445A	p.A445A	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1335	+			445			Extracellular (Potential).|Cadherin 4.		O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1335C>A	CCDS54917.1																																																																																				0.657	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2		NM_018908		89	71	1	0	4.21487e-37	1	4.48562e-37	89	71		
PCDHB13	56123	broad.mit.edu	37	5	140595757	140595757	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:140595757G>A	ENST00000341948.4	+	1	2249	c.2062G>A	c.(2062-2064)Gtc>Atc	p.V688I		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	688					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTGCTCACCGTCTACCTGGT	0.687																																						uc003lja.1		NaN																	0				skin(2)|ovary(1)	3						c.(2062-2064)GTC>ATC		protocadherin beta 13 precursor							81.0	87.0	85.0					5																	140595757		2191	4271	6462	SO:0001583	missense	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595757G>A	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.2062G>A	5.37:g.140595757G>A	ENSP00000345491:p.Val688Ile						p.V688I	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2249	+			688			Extracellular (Potential).		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	c.2062G>A	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	-	10.11	1.259995	0.23051	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.49432	0.78	3.5	1.58	0.23477	.	.	.	.	.	T	0.40886	0.1135	M	0.70108	2.13	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.46555	-0.9183	9	0.54805	T	0.06	.	0.9905	0.01455	0.2595:0.1727:0.4042:0.1635	.	688	Q9Y5F0	PCDBD_HUMAN	I	688;688;634	ENSP00000345491:V688I	ENSP00000345491:V688I	V	+	1	0	PCDHB13	140575941	0.000000	0.05858	0.002000	0.10522	0.238000	0.25445	-1.684000	0.01932	0.085000	0.17107	-1.261000	0.01458	GTC		0.687	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1		NM_018933		89	168	0	0	0	1	0	89	168		
FAT2	2196	broad.mit.edu	37	5	150934193	150934193	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:150934193G>A	ENST00000261800.5	-	4	3687	c.3675C>T	c.(3673-3675)acC>acT	p.T1225T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1225	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T1225T(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCACCCTGGAGGTGGACTTCA	0.517																																						uc003lue.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(3673-3675)ACC>ACT		FAT tumor suppressor 2 precursor							117.0	105.0	109.0					5																	150934193		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150934193G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3675C>T	5.37:g.150934193G>A						GM2A_uc011dcs.1_Intron	p.T1225T	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	3688	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1225			Extracellular (Potential).|Cadherin 10.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.3675C>T	CCDS4317.1																																																																																				0.517	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1		NM_001447		37	99	0	0	0	1	0	37	99		
GEMIN5	25929	broad.mit.edu	37	5	154267890	154267890	+	Silent	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:154267890G>T	ENST00000285873.7	-	28	4482	c.4407C>A	c.(4405-4407)ctC>ctA	p.L1469L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1469					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGGACCTGATGAGAAGCAGGA	0.527																																						uc003lvx.3		NaN																	0				skin(2)|ovary(1)	3						c.(4405-4407)CTC>CTA		gemin 5							93.0	88.0	90.0					5																	154267890		2203	4300	6503	SO:0001819	synonymous_variant	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154267890G>T	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.4407C>A	5.37:g.154267890G>T						GEMIN5_uc011ddk.1_Silent_p.L1468L	p.L1469L	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		28	4490	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	1469					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	ENST00000285873.7	37	c.4407C>A	CCDS4330.1																																																																																				0.527	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1				16	59	1	0	9.16793e-09	1	9.31997e-09	16	59		
TENM2	57451	broad.mit.edu	37	5	167631499	167631499	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:167631499G>A	ENST00000518659.1	+	19	3736	c.3697G>A	c.(3697-3699)Gaa>Aaa	p.E1233K	TENM2_ENST00000545108.1_Missense_Mutation_p.E1233K|TENM2_ENST00000520394.1_Missense_Mutation_p.E1001K|TENM2_ENST00000519204.1_Missense_Mutation_p.E1112K|TENM2_ENST00000403607.2_Missense_Mutation_p.E1057K	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1233					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CGGCCTTGCTGAAGGCAACAA	0.577																																						uc010jjd.2		NaN																	0				ovary(6)|central_nervous_system(4)	10						c.(3670-3672)GAA>AAA		odz, odd Oz/ten-m homolog 2							77.0	78.0	78.0					5																	167631499		2006	4175	6181	SO:0001583	missense	57451							g.chr5:167631499G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3697G>A	5.37:g.167631499G>A	ENSP00000429430:p.Glu1233Lys					ODZ2_uc003lzr.3_Missense_Mutation_p.E1001K|ODZ2_uc003lzt.3_Missense_Mutation_p.E597K|ODZ2_uc010jje.2_Missense_Mutation_p.E495K	p.E1224K	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	19	3670	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.3670G>A		.	.	.	.	.	.	.	.	.	.	g	18.58	3.654052	0.67472	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.88741	-1.95;-1.93;-2.05;-2.38;-2.42	4.9	4.01	0.46588	.	0.142496	0.64402	D	0.000007	D	0.83175	0.5197	N	0.21194	0.64	0.53005	D	0.999966	P;P;P	0.46142	0.721;0.599;0.873	P;B;B	0.47786	0.557;0.354;0.218	T	0.79383	-0.1826	10	0.06099	T	0.92	.	15.0945	0.72223	0.0:0.1425:0.8575:0.0	.	1233;1233;1001	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	K	1233;1233;1112;1001;1057	ENSP00000429430:E1233K;ENSP00000438635:E1233K;ENSP00000428964:E1112K;ENSP00000427874:E1001K;ENSP00000384905:E1057K	ENSP00000384905:E1057K	E	+	1	0	ODZ2	167564077	1.000000	0.71417	0.806000	0.32338	0.907000	0.53573	9.866000	0.99616	1.025000	0.39708	0.550000	0.68814	GAA		0.577	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1		NM_001122679		18	42	0	0	0	1	0	18	42		
DOCK2	1794	broad.mit.edu	37	5	169502984	169502984	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:169502984G>A	ENST00000256935.8	+	47	4842	c.4762G>A	c.(4762-4764)Gag>Aag	p.E1588K	DOCK2_ENST00000520908.1_Missense_Mutation_p.E1080K|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.E649K	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1588	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAAGATCCATGAGAAAAGGGT	0.532																																						uc003maf.2		NaN																	0				ovary(5)|pancreas(2)	7						c.(4762-4764)GAG>AAG		dedicator of cytokinesis 2							157.0	160.0	159.0					5																	169502984		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169502984G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4762G>A	5.37:g.169502984G>A	ENSP00000256935:p.Glu1588Lys					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.E1080K|DOCK2_uc003mah.2_Missense_Mutation_p.E144K	p.E1588K	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		47	4842	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1588			DHR-2.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4762G>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027865	0.54790	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.16743	2.32;2.32;2.32	5.18	5.18	0.71444	Cytochrome c domain (1);	0.246771	0.41097	D	0.000957	T	0.09379	0.0231	N	0.04132	-0.27	0.50467	D	0.999873	B;B;B	0.22211	0.066;0.026;0.027	B;B;B	0.16289	0.013;0.015;0.013	T	0.28235	-1.0050	10	0.15952	T	0.53	.	19.1283	0.93394	0.0:0.0:1.0:0.0	.	1080;144;1588	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	K	1588;1080;649	ENSP00000256935:E1588K;ENSP00000429283:E1080K;ENSP00000438827:E649K	ENSP00000256935:E1588K	E	+	1	0	DOCK2	169435562	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.747000	0.98863	2.598000	0.87819	0.650000	0.86243	GAG		0.532	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2		NM_004946		40	118	0	0	0	1	0	40	118		
NKX2-5	1482	broad.mit.edu	37	5	172660109	172660109	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:172660109C>T	ENST00000329198.4	-	2	711	c.438G>A	c.(436-438)tcG>tcA	p.S146S	NKX2-5_ENST00000521848.1_3'UTR|NKX2-5_ENST00000424406.2_3'UTR	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	146					adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCTGCGCCTGCGAGAAGAGCA	0.692																																					Esophageal Squamous(72;810 1219 2387 13420 44943)	uc003mcm.1		NaN																	0				central_nervous_system(1)	1						c.(436-438)TCG>TCA		NK2 transcription factor related, locus 5							12.0	11.0	12.0					5																	172660109		2200	4296	6496	SO:0001819	synonymous_variant	1482				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	g.chr5:172660109C>T	AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"""Homeoboxes / ANTP class : NKL subclass"""	2488	protein-coding gene	gene with protein product	"""tinman paralog (Drosophila)"""	600584	"""cardiac-specific homeo box"", ""NK2 transcription factor related, locus 5 (Drosophila)"""	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.438G>A	5.37:g.172660109C>T						NKX2-5_uc011dfe.1_3'UTR|NKX2-5_uc010jjt.1_3'UTR	p.S146S	NM_004387	NP_004378	P52952	NKX25_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	614	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	146			Homeobox.		A8K3K0|B4DNB6|E9PBU6	Silent	SNP	ENST00000329198.4	37	c.438G>A	CCDS4387.1																																																																																				0.692	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252942.2				8	5	0	0	0	1	0	8	5		
CPEB4	80315	broad.mit.edu	37	5	173316947	173316947	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:173316947C>G	ENST00000265085.5	+	1	1665	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	CPEB4_ENST00000334035.5_Missense_Mutation_p.Q71E|CPEB4_ENST00000519835.1_Missense_Mutation_p.Q71E|CPEB4_ENST00000520867.1_Missense_Mutation_p.Q71E	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	71					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCATAACATTCAGGATGAGAT	0.498																																						uc003mcs.3		NaN																	0					0						c.(211-213)CAG>GAG		cytoplasmic polyadenylation element binding							107.0	116.0	113.0					5																	173316947		2203	4300	6503	SO:0001583	missense	80315						nucleotide binding|RNA binding	g.chr5:173316947C>G	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.211C>G	5.37:g.173316947C>G	ENSP00000265085:p.Gln71Glu					CPEB4_uc010jju.1_Missense_Mutation_p.Q71E|CPEB4_uc010jjv.2_Missense_Mutation_p.Q71E|CPEB4_uc011dfg.1_Missense_Mutation_p.Q71E	p.Q71E	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	1617	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	71					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.211C>G	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508856	0.44660	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.60907	0.2305	L	0.32530	0.975	0.80722	D	1	P;P;B;D	0.54964	0.924;0.954;0.151;0.969	P;D;B;D	0.67900	0.9;0.954;0.039;0.93	T	0.61855	-0.6977	10	0.87932	D	0	-10.2334	20.1634	0.98142	0.0:1.0:0.0:0.0	.	71;71;71;71	B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.;.;.;CPEB4_HUMAN	E	71	ENSP00000265085:Q71E;ENSP00000429092:Q71E;ENSP00000334533:Q71E;ENSP00000429048:Q71E	ENSP00000265085:Q71E	Q	+	1	0	CPEB4	173249553	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.773000	0.95371	0.655000	0.94253	CAG		0.498	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2		NM_030627		111	83	0	0	0	1	0	111	83		
CANX	821	broad.mit.edu	37	5	179143168	179143168	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:179143168C>T	ENST00000247461.4	+	8	984	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L	CANX_ENST00000504734.1_Silent_p.L262L|CANX_ENST00000415618.2_Silent_p.L297L|CANX_ENST00000503126.1_3'UTR|CANX_ENST00000512607.2_Silent_p.L154L|CANX_ENST00000452673.2_Silent_p.L262L	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	262					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	TAGTGGAAATCTGCTCAATGA	0.388																																						uc003mkk.2		NaN																	0					0						c.(784-786)CTG>TTG		calnexin precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						123.0	125.0	125.0					5																	179143168		2203	4300	6503	SO:0001819	synonymous_variant	821				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	g.chr5:179143168C>T	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.784C>T	5.37:g.179143168C>T						CANX_uc011dgp.1_Silent_p.L297L|CANX_uc010jlb.1_Silent_p.L198L|CANX_uc003mkl.2_Silent_p.L262L|CANX_uc011dgq.1_Silent_p.L154L	p.L262L	NM_001746	NP_001737	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	961	+	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	262			Lumenal (Potential).		B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Silent	SNP	ENST00000247461.4	37	c.784C>T	CCDS4447.1																																																																																				0.388	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2		NM_001024649		61	57	0	0	0	1	0	61	57		
HIVEP1	3096	broad.mit.edu	37	6	12122571	12122571	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:12122571C>T	ENST00000379388.2	+	4	2875	c.2543C>T	c.(2542-2544)tCa>tTa	p.S848L		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	848					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACAGGTTATTCAGCAGTACCT	0.398																																						uc003nac.2		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(2542-2544)TCA>TTA		human immunodeficiency virus type I enhancer							138.0	129.0	132.0					6																	12122571		1905	4122	6027	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12122571C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2543C>T	6.37:g.12122571C>T	ENSP00000368698:p.Ser848Leu					HIVEP1_uc011diq.1_RNA	p.S848L	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	2722	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	848					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.2543C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954059	0.92726	.	.	ENSG00000095951	ENST00000379388	T	0.46451	0.87	6.02	6.02	0.97574	.	0.000000	0.30492	N	0.009501	T	0.64294	0.2585	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62699	-0.6799	9	.	.	.	-21.434	20.5407	0.99260	0.0:1.0:0.0:0.0	.	848	P15822	ZEP1_HUMAN	L	848	ENSP00000368698:S848L	.	S	+	2	0	HIVEP1	12230557	1.000000	0.71417	0.924000	0.36721	0.961000	0.63080	7.818000	0.86416	2.865000	0.98341	0.655000	0.94253	TCA		0.398	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2		NM_002114		39	107	0	0	0	1	0	39	107		
HIVEP1	3096	broad.mit.edu	37	6	12122603	12122603	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:12122603C>T	ENST00000379388.2	+	4	2907	c.2575C>T	c.(2575-2577)Cat>Tat	p.H859Y		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	859					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACCTCCTCCTCATCCACTAAG	0.443																																						uc003nac.2		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(2575-2577)CAT>TAT		human immunodeficiency virus type I enhancer							117.0	110.0	112.0					6																	12122603		1910	4136	6046	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12122603C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2575C>T	6.37:g.12122603C>T	ENSP00000368698:p.His859Tyr					HIVEP1_uc011diq.1_RNA	p.H859Y	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	2754	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	859					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.2575C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313981	0.60414	.	.	ENSG00000095951	ENST00000379388	T	0.18960	2.18	6.02	6.02	0.97574	.	0.210317	0.23975	N	0.042729	T	0.22551	0.0544	M	0.80183	2.485	0.80722	D	1	P	0.38922	0.651	B	0.37387	0.248	T	0.03673	-1.1014	9	.	.	.	-18.3972	20.5407	0.99260	0.0:1.0:0.0:0.0	.	859	P15822	ZEP1_HUMAN	Y	859	ENSP00000368698:H859Y	.	H	+	1	0	HIVEP1	12230589	0.998000	0.40836	0.189000	0.23252	0.992000	0.81027	3.994000	0.56994	2.865000	0.98341	0.655000	0.94253	CAT		0.443	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2		NM_002114		36	91	0	0	0	1	0	36	91		
HIVEP1	3096	broad.mit.edu	37	6	12122781	12122781	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:12122781C>G	ENST00000379388.2	+	4	3085	c.2753C>G	c.(2752-2754)tCc>tGc	p.S918C		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	918					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACTGGACAGTCCCTGGATGAG	0.517																																						uc003nac.2		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(2752-2754)TCC>TGC		human immunodeficiency virus type I enhancer							52.0	54.0	53.0					6																	12122781		2055	4195	6250	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12122781C>G	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2753C>G	6.37:g.12122781C>G	ENSP00000368698:p.Ser918Cys					HIVEP1_uc011diq.1_RNA	p.S918C	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	2932	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	918					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.2753C>G	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647589	0.67358	.	.	ENSG00000095951	ENST00000379388	T	0.11930	2.73	5.8	5.8	0.92144	.	0.262756	0.20456	N	0.091983	T	0.33760	0.0874	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	T	0.02789	-1.1110	9	.	.	.	-3.0971	20.0545	0.97645	0.0:1.0:0.0:0.0	.	918	P15822	ZEP1_HUMAN	C	918	ENSP00000368698:S918C	.	S	+	2	0	HIVEP1	12230767	1.000000	0.71417	0.067000	0.19924	0.470000	0.32858	7.726000	0.84824	2.748000	0.94277	0.655000	0.94253	TCC		0.517	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2		NM_002114		10	33	0	0	0	1	0	10	33		
HIVEP1	3096	broad.mit.edu	37	6	12123600	12123600	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:12123600C>T	ENST00000379388.2	+	4	3904	c.3572C>T	c.(3571-3573)tCt>tTt	p.S1191F	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1191					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CGGGACGGGTCTCATCCTCAC	0.512																																						uc003nac.2		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(3571-3573)TCT>TTT		human immunodeficiency virus type I enhancer							42.0	41.0	42.0					6																	12123600		1928	4131	6059	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12123600C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3572C>T	6.37:g.12123600C>T	ENSP00000368698:p.Ser1191Phe					HIVEP1_uc011diq.1_RNA	p.S1191F	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	3751	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1191					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.3572C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	8.136	0.784073	0.16189	.	.	ENSG00000095951	ENST00000379388	T	0.31247	1.5	5.83	2.59	0.31030	.	1.477610	0.05125	N	0.491405	T	0.13970	0.0338	L	0.53249	1.67	0.09310	N	0.999994	P	0.41265	0.744	B	0.36808	0.233	T	0.26677	-1.0096	9	.	.	.	-0.0532	9.3728	0.38264	0.0:0.7292:0.1222:0.1486	.	1191	P15822	ZEP1_HUMAN	F	1191	ENSP00000368698:S1191F	.	S	+	2	0	HIVEP1	12231586	0.000000	0.05858	0.001000	0.08648	0.447000	0.32167	0.308000	0.19314	0.777000	0.33496	0.591000	0.81541	TCT		0.512	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2		NM_002114		3	30	0	0	0	1	0	3	30		
HIVEP1	3096	broad.mit.edu	37	6	12123624	12123624	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:12123624C>G	ENST00000379388.2	+	4	3928	c.3596C>G	c.(3595-3597)tCa>tGa	p.S1199*	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1199					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTTGCACTATCAGACGCTCTC	0.512																																						uc003nac.2		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(3595-3597)TCA>TGA		human immunodeficiency virus type I enhancer							45.0	45.0	45.0					6																	12123624		1938	4147	6085	SO:0001587	stop_gained	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12123624C>G	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3596C>G	6.37:g.12123624C>G	ENSP00000368698:p.Ser1199*					HIVEP1_uc011diq.1_RNA	p.S1199*	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	3775	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1199					B2RTU3|Q14122|Q5MPB1|Q5VW60	Nonsense_Mutation	SNP	ENST00000379388.2	37	c.3596C>G	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	41	8.775953	0.98950	.	.	ENSG00000095951	ENST00000379388	.	.	.	5.74	4.87	0.63330	.	0.311257	0.17921	N	0.157509	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.6309	10.0841	0.42408	0.0:0.8474:0.0:0.1526	.	.	.	.	X	1199	.	.	S	+	2	0	HIVEP1	12231610	0.539000	0.26402	0.004000	0.12327	0.237000	0.25408	2.060000	0.41394	1.424000	0.47217	0.591000	0.81541	TCA		0.512	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2		NM_002114		4	31	0	0	0	1	0	4	31		
HIVEP1	3096	broad.mit.edu	37	6	12123634	12123634	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:12123634C>T	ENST00000379388.2	+	4	3938	c.3606C>T	c.(3604-3606)ctC>ctT	p.L1202L	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1202					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAGACGCTCTCAGAGGAGAAC	0.517																																						uc003nac.2		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(3604-3606)CTC>CTT		human immunodeficiency virus type I enhancer							47.0	46.0	46.0					6																	12123634		1945	4155	6100	SO:0001819	synonymous_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12123634C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3606C>T	6.37:g.12123634C>T						HIVEP1_uc011diq.1_RNA	p.L1202L	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	3785	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1202					B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	c.3606C>T	CCDS43426.1																																																																																				0.517	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2		NM_002114		3	34	0	0	0	1	0	3	34		
RNF182	221687	broad.mit.edu	37	6	13977385	13977385	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:13977385C>G	ENST00000488300.1	+	3	558	c.35C>G	c.(34-36)tCt>tGt	p.S12C	RNF182_ENST00000537388.1_Missense_Mutation_p.S12C|RNF182_ENST00000544682.1_Missense_Mutation_p.S12C|RNF182_ENST00000537663.1_Missense_Mutation_p.S12C	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	12					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			ACTGCGGAGTCTCAGGCCTCT	0.468																																						uc003nbe.2		NaN																	0				large_intestine(2)|ovary(1)	3						c.(34-36)TCT>TGT		ring finger protein 182							110.0	113.0	112.0					6																	13977385		2203	4300	6503	SO:0001583	missense	221687					cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:13977385C>G	AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537		"""RING-type (C3HC4) zinc fingers"""	28522	protein-coding gene	gene with protein product						12477932	Standard	NM_152737		Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.35C>G	6.37:g.13977385C>G	ENSP00000420465:p.Ser12Cys					RNF182_uc003nbf.2_Missense_Mutation_p.S12C|RNF182_uc003nbg.2_Missense_Mutation_p.S12C	p.S12C	NM_152737	NP_689950	Q8N6D2	RN182_HUMAN	Epithelial(50;0.195)		3	453	+	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	12					B2RDG2|Q8NBG3	Missense_Mutation	SNP	ENST00000488300.1	37	c.35C>G	CCDS4531.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002784	0.35320	.	.	ENSG00000180537	ENST00000488763;ENST00000537663;ENST00000488300;ENST00000544682;ENST00000420478;ENST00000471906;ENST00000423553;ENST00000537388	D;D;D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2	4.59	3.71	0.42584	.	2.338030	0.01334	N	0.011327	D	0.90410	0.6998	M	0.71206	2.165	0.33502	D	0.590107	B	0.26041	0.14	B	0.28849	0.095	T	0.75221	-0.3394	10	0.48119	T	0.1	-7.1193	13.419	0.60985	0.0:0.922:0.0:0.078	.	12	Q8N6D2	RN182_HUMAN	C	12	ENSP00000417500:S12C;ENSP00000443228:S12C;ENSP00000420465:S12C;ENSP00000442021:S12C;ENSP00000419329:S12C;ENSP00000418717:S12C;ENSP00000441271:S12C	ENSP00000419329:S12C	S	+	2	0	RNF182	14085364	0.015000	0.18098	0.965000	0.40720	0.788000	0.44548	2.080000	0.41586	1.259000	0.44117	0.563000	0.77884	TCT		0.468	RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039911.2		NM_152737		45	100	0	0	0	1	0	45	100		
KIF13A	63971	broad.mit.edu	37	6	17771434	17771434	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:17771434G>C	ENST00000259711.6	-	38	4597	c.4492C>G	c.(4492-4494)Cag>Gag	p.Q1498E	KIF13A_ENST00000378826.2_Intron|KIF13A_ENST00000378816.5_Intron|KIF13A_ENST00000378814.5_Intron|KIF13A_ENST00000378843.2_Intron	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1498					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)			TTATGTGCCTGAGGTGGAGGC	0.458																																						uc003ncg.3		NaN																	0				large_intestine(2)|ovary(2)	4						c.(4492-4494)CAG>GAG		kinesin family member 13A isoform a							116.0	114.0	115.0					6																	17771434		2077	4216	6293	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.chr6:17771434G>C	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.4492C>G	6.37:g.17771434G>C	ENSP00000259711:p.Gln1498Glu					KIF13A_uc003ncf.2_Intron|KIF13A_uc003nch.3_Intron|KIF13A_uc003nci.3_Intron|KIF13A_uc003nce.1_Intron	p.Q1498E	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		38	4597	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1498					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.4492C>G	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262794	0.39995	.	.	ENSG00000137177	ENST00000502297;ENST00000259711	T;T	0.71698	1.86;-0.59	6.03	6.03	0.97812	.	0.443758	0.23483	N	0.047698	T	0.39860	0.1094	N	0.24115	0.695	0.80722	D	1	B	0.25235	0.121	B	0.18263	0.021	T	0.51490	-0.8699	10	0.02654	T	1	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1498	Q9H1H9	KI13A_HUMAN	E	502;1498	ENSP00000425616:Q502E;ENSP00000259711:Q1498E	ENSP00000259711:Q1498E	Q	-	1	0	KIF13A	17879413	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.435000	0.66532	2.861000	0.98227	0.655000	0.94253	CAG		0.458	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4				8	17	0	0	0	1	0	8	17		
LRRC16A	55604	broad.mit.edu	37	6	25619782	25619782	+	Missense_Mutation	SNP	G	G	A	rs546122808	byFrequency	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:25619782G>A	ENST00000329474.6	+	37	4455	c.4087G>A	c.(4087-4089)Gaa>Aaa	p.E1363K	LRRC16A_ENST00000476458.1_3'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1363					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CTCCGGGGAAGAAGCAGAAAA	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		14934	0.002		0.0	False		,,,				2504	0.0					uc011djw.1		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(4087-4089)GAA>AAA		leucine rich repeat containing 16A							102.0	103.0	103.0					6																	25619782		1943	4137	6080	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25619782G>A	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.4087G>A	6.37:g.25619782G>A	ENSP00000331983:p.Glu1363Lys					LRRC16A_uc010jpx.2_Missense_Mutation_p.E1318K|LRRC16A_uc010jpy.2_Missense_Mutation_p.E1357K	p.E1363K	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN			37	4463	+			1363					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.4087G>A	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346060	0.82022	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.45276	0.9	5.46	5.46	0.80206	.	0.117709	0.56097	N	0.000032	T	0.32285	0.0824	L	0.54323	1.7	0.80722	D	1	P;P;P	0.41393	0.748;0.748;0.592	B;B;B	0.38225	0.268;0.25;0.254	T	0.33240	-0.9876	10	0.66056	D	0.02	-21.2787	19.3067	0.94165	0.0:0.0:1.0:0.0	.	1363;1357;1318	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	K	1363;1318	ENSP00000331983:E1363K	ENSP00000331983:E1363K	E	+	1	0	LRRC16A	25727761	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.681000	0.74523	2.553000	0.86117	0.655000	0.94253	GAA		0.498	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2		NM_017640		62	45	0	0	0	1	0	62	45		
ZNF322	79692	broad.mit.edu	37	6	26637743	26637743	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:26637743C>G	ENST00000415922.2	-	4	1684	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	ZNF322_ENST00000471278.1_Missense_Mutation_p.E347Q|RP11-457M11.2_ENST00000456172.1_RNA|ZNF322_ENST00000461899.1_5'Flank	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGTAGCTCCTCTGTTTGAGTT	0.428																																						uc003nil.3		NaN																	0					0						c.(1039-1041)GAG>CAG		zinc finger protein 322A							76.0	58.0	64.0					6																	26637743		2201	4276	6477	SO:0001583	missense	79692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr6:26637743C>G	AY376736	CCDS4617.1	6p22.1	2013-01-08	2011-07-29	2011-07-29	ENSG00000181315	ENSG00000181315		"""Zinc fingers, C2H2-type"""	23640	protein-coding gene	gene with protein product		610847	"""zinc finger protein 489"", ""HLA complex group 12"", ""zinc finger protein 322A"""	ZNF489, ZNF388, HCG12, ZNF322A		15555580	Standard	NM_024639		Approved	bA457M11.3, bA457M11.2	uc021yny.1	Q6U7Q0	OTTHUMG00000014460	ENST00000415922.2:c.1039G>C	6.37:g.26637743C>G	ENSP00000418897:p.Glu347Gln					ZNF322A_uc003nij.2_5'Flank	p.E347Q	NM_024639	NP_078915	Q6U7Q0	Z322A_HUMAN			4	1668	-			347					A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Missense_Mutation	SNP	ENST00000415922.2	37	c.1039G>C	CCDS4617.1	.	.	.	.	.	.	.	.	.	.	c	13.84	2.356661	0.41801	.	.	ENSG00000181315	ENST00000415922;ENST00000471278	T;T	0.15718	2.4;2.4	4.34	4.34	0.51931	.	0.000000	0.46442	D	0.000284	T	0.07143	0.0181	N	0.25380	0.74	0.34961	D	0.752166	P	0.42827	0.791	B	0.38020	0.263	T	0.10132	-1.0643	10	0.87932	D	0	-16.4235	15.1495	0.72687	0.0:1.0:0.0:0.0	.	347	Q6U7Q0	ZN322_HUMAN	Q	347	ENSP00000418897:E347Q;ENSP00000419728:E347Q	ENSP00000418897:E347Q	E	-	1	0	ZNF322	26745722	0.998000	0.40836	1.000000	0.80357	0.971000	0.66376	5.527000	0.67123	2.689000	0.91719	0.655000	0.94253	GAG		0.428	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040126.2		NM_024639		63	101	0	0	0	1	0	63	101		
VN1R10P	387316	broad.mit.edu	37	6	27293278	27293278	+	IGR	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:27293278C>G								POM121L2 (13329 upstream) : ZNF391 (49115 downstream)																							GACGGTCTTTCATATTCACAG	0.398																																						uc010jqt.2		NaN																	0					0						c.(217-219)CAT>GAT		FKSG83							241.0	221.0	227.0					6																	27293278		1882	4103	5985	SO:0001628	intergenic_variant	83954					integral to membrane	pheromone receptor activity	g.chr6:27293278C>G																													6.37:g.27293278C>G						FKSG83_uc010jqs.1_3'UTR	p.H73D	NM_032030	NP_114419	Q3KNW7	Q3KNW7_HUMAN			1	701	+			73						Missense_Mutation	SNP		37	c.217C>G																																																																																				0	0.398										72	67	0	0	0	1	0	72	67		
GNL1	2794	broad.mit.edu	37	6	30514513	30514513	+	Silent	SNP	G	G	A	rs5875262		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:30514513G>A	ENST00000376621.3	-	11	2512	c.1542C>T	c.(1540-1542)ctC>ctT	p.L514L		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	514				L -> V (in Ref. 1; AAA66492). {ECO:0000305}.	cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AACACAGGCTGAGGCGGCCGT	0.572																																						uc003nqh.2		NaN																	0				ovary(3)	3						c.(1540-1542)CTC>CTT		guanine nucleotide binding protein-like 1							77.0	85.0	82.0					6																	30514513		1510	2708	4218	SO:0001819	synonymous_variant	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30514513G>A		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1542C>T	6.37:g.30514513G>A						GNL1_uc011dmi.1_Silent_p.L311L|GNL1_uc011dmj.1_Silent_p.L512L|GNL1_uc011dmk.1_Silent_p.L169L	p.L514L	NM_005275	NP_005266	P36915	GNL1_HUMAN			11	2570	-			514	L -> V (in Ref. 1; AAA66492).				B0S838|Q96CT5	Silent	SNP	ENST00000376621.3	37	c.1542C>T	CCDS4680.1																																																																																				0.572	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2				28	83	0	0	0	1	0	28	83		
MDC1	9656	broad.mit.edu	37	6	30672146	30672146	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:30672146G>C	ENST00000376406.3	-	10	5461	c.4814C>G	c.(4813-4815)tCt>tGt	p.S1605C	MDC1_ENST00000376405.2_Missense_Mutation_p.S1341C|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1605	Interaction with the PRKDC complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GGTCTTGACAGAGGACCTATT	0.602								Other conserved DNA damage response genes																														uc003nrg.3		NaN																	0				breast(2)|ovary(1)|kidney(1)	4						c.(4813-4815)TCT>TGT	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							119.0	131.0	127.0					6																	30672146		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30672146G>C	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4814C>G	6.37:g.30672146G>C	ENSP00000365588:p.Ser1605Cys					MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.S1212C	p.S1605C	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	5254	-			1605			Interaction with the PRKDC complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.4814C>G	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302024	0.40694	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.11604	2.76;2.76	4.12	2.31	0.28768	.	.	.	.	.	T	0.14399	0.0348	M	0.66939	2.045	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	T	0.05241	-1.0897	9	0.62326	D	0.03	-4.6193	6.9977	0.24793	0.2101:0.0:0.7899:0.0	.	1341;1605	Q14676-2;Q14676	.;MDC1_HUMAN	C	1605;1341;1318;1171	ENSP00000365588:S1605C;ENSP00000365587:S1341C	ENSP00000365587:S1341C	S	-	2	0	MDC1	30780125	0.003000	0.15002	0.003000	0.11579	0.017000	0.09413	1.022000	0.30052	0.680000	0.31366	0.549000	0.68633	TCT		0.602	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1		NM_014641		91	86	0	0	0	1	0	91	86		
MDC1	9656	broad.mit.edu	37	6	30673848	30673848	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:30673848G>C	ENST00000376406.3	-	10	3759	c.3112C>G	c.(3112-3114)Ctg>Gtg	p.L1038V	MDC1_ENST00000376405.2_Missense_Mutation_p.L774V|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1038	Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GTAGGAGGCAGACAAGCATCT	0.517								Other conserved DNA damage response genes																														uc003nrg.3		NaN																	0				breast(2)|ovary(1)|kidney(1)	4						c.(3112-3114)CTG>GTG	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							47.0	56.0	53.0					6																	30673848		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30673848G>C	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3112C>G	6.37:g.30673848G>C	ENSP00000365588:p.Leu1038Val					MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.L645V	p.L1038V	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	3552	-			1038	Missing (in Ref. 2; CAH18685).		Pro-rich.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.3112C>G	CCDS34384.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.24|13.24	2.178555|2.178555	0.38511|0.38511	.|.	.|.	ENSG00000137337|ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104|ENST00000417033	T;T|.	0.07114|.	3.96;3.22|.	4.83|4.83	1.97|1.97	0.26223|0.26223	.|.	0.332658|.	0.17025|.	N|.	0.189965|.	T|T	0.14917|0.14917	0.0360|0.0360	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	D;D|.	0.71674|.	0.998;0.997|.	D;D|.	0.77557|.	0.99;0.978|.	T|T	0.23190|0.23190	-1.0195|-1.0195	10|5	0.33141|.	T|.	0.24|.	3.0723|3.0723	6.5536|6.5536	0.22448|0.22448	0.3181:0.0:0.6819:0.0|0.3181:0.0:0.6819:0.0	.|.	774;1038|.	Q14676-2;Q14676|.	.;MDC1_HUMAN|.	V|C	1038;774;1038;645|98	ENSP00000365588:L1038V;ENSP00000365587:L774V|.	ENSP00000365587:L774V|.	L|S	-|-	1|2	2|0	MDC1|MDC1	30781827|30781827	0.159000|0.159000	0.22864|0.22864	0.037000|0.037000	0.18230|0.18230	0.796000|0.796000	0.44982|0.44982	1.005000|1.005000	0.29834|0.29834	0.634000|0.634000	0.30469|0.30469	0.444000|0.444000	0.29173|0.29173	CTG|TCT		0.517	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1		NM_014641		41	35	0	0	0	1	0	41	35		
ABHD16A	7920	broad.mit.edu	37	6	31669889	31669889	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:31669889G>A	ENST00000395952.3	-	2	313	c.151C>T	c.(151-153)Cgt>Tgt	p.R51C	MIR4646_ENST00000580775.1_RNA|ABHD16A_ENST00000538874.1_5'UTR|ABHD16A_ENST00000375842.4_5'UTR|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Intron	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	51						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						TCCAGGGCACGGGGCTGATAG	0.547																																						uc003nvy.1		NaN																	0					0						c.(151-153)CGT>TGT		HLA-B associated transcript 5							150.0	101.0	119.0					6																	31669889		1511	2709	4220	SO:0001583	missense	7920					integral to membrane	hydrolase activity|protein binding	g.chr6:31669889G>A	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"""Abhydrolase domain containing"""	13921	protein-coding gene	gene with protein product		142620	"""HLA-B associated transcript 5"""	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.151C>T	6.37:g.31669889G>A	ENSP00000379282:p.Arg51Cys					BAT5_uc003nvx.1_5'UTR|BAT5_uc011dny.1_Intron|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_5'UTR|BAT5_uc010jtc.1_Intron|BAT5_uc011doa.1_5'UTR	p.R51C	NM_021160	NP_066983	O95870	ABHGA_HUMAN			2	181	-			51					A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Missense_Mutation	SNP	ENST00000395952.3	37	c.151C>T	CCDS4713.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381254	0.82792	.	.	ENSG00000204427	ENST00000395952	.	.	.	5.66	4.76	0.60689	.	0.062929	0.64402	D	0.000007	T	0.56124	0.1964	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	P	0.54346	0.749	T	0.60622	-0.7227	9	0.62326	D	0.03	-5.9309	12.096	0.53755	0.0:0.0:0.8297:0.1703	.	51	O95870	ABHGA_HUMAN	C	51	.	ENSP00000379282:R51C	R	-	1	0	ABHD16A	31777868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.134000	0.50538	2.668000	0.90789	0.561000	0.74099	CGT		0.547	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4				19	54	0	0	0	1	0	19	54		
TNXB	7148	broad.mit.edu	37	6	32046817	32046817	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:32046817G>A	ENST00000375244.3	-	11	4569	c.4368C>T	c.(4366-4368)ggC>ggT	p.G1456G	RNA5SP206_ENST00000516703.1_RNA|TNXB_ENST00000375247.2_Silent_p.G1456G			P22105	TENX_HUMAN	tenascin XB	1543					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACCTGTCACGCCCACGGCGG	0.662																																						uc003nzl.2		NaN																	0					0						c.(4366-4368)GGC>GGT		tenascin XB isoform 1 precursor							32.0	36.0	35.0					6																	32046817		1311	2578	3889	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32046817G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4368C>T	6.37:g.32046817G>A							p.G1456G	NM_019105	NP_061978	P22105	TENX_HUMAN			11	4570	-			1543					P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.4368C>T																																																																																					0.662	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2		NM_019105		47	27	0	0	0	1	0	47	27		
HLA-DOA	3111	broad.mit.edu	37	6	32977305	32977305	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:32977305G>C	ENST00000229829.5	-	1	84	c.9C>G	c.(7-9)ctC>ctG	p.L3L	HLA-DOA_ENST00000450833.2_5'UTR|HLA-DOA_ENST00000495532.1_5'Flank	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	3					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GCCCTGCTCTGAGGGCCATTA	0.587																																						uc003ocr.2		NaN																	0					0						c.(7-9)CTC>CTG		major histocompatibility complex, class II, DO							47.0	34.0	39.0					6																	32977305		1510	2708	4218	SO:0001819	synonymous_variant	3111				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32977305G>C	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.9C>G	6.37:g.32977305G>C						HLA-DOA_uc010juj.2_5'UTR|HLA-DOA_uc010jui.2_Silent_p.L3L	p.L3L	NM_002119	NP_002110	P06340	DOA_HUMAN			1	85	-			3					Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Silent	SNP	ENST00000229829.5	37	c.9C>G	CCDS4763.1																																																																																				0.587	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2		NM_002119		5	12	0	0	0	1	0	5	12		
ANKS1A	23294	broad.mit.edu	37	6	34985275	34985275	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:34985275G>C	ENST00000360359.3	+	11	1587	c.1449G>C	c.(1447-1449)cgG>cgC	p.R483R	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	483					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCAGCAGCCGGAGCCAGGACT	0.592																																						uc003ojx.3		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1447-1449)CGG>CGC		ankyrin repeat and sterile alpha motif domain							32.0	40.0	37.0					6																	34985275		2195	4289	6484	SO:0001819	synonymous_variant	23294					cytoplasm	protein binding	g.chr6:34985275G>C	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1449G>C	6.37:g.34985275G>C						ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Silent_p.R23R|ANKS1A_uc010jvp.1_Intron	p.R483R	NM_015245	NP_056060	Q92625	ANS1A_HUMAN			11	1591	+			483					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	ENST00000360359.3	37	c.1449G>C	CCDS4798.1																																																																																				0.592	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1		XM_166478		70	54	0	0	0	1	0	70	54		
MAPK14	1432	broad.mit.edu	37	6	36020527	36020527	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:36020527C>T	ENST00000229794.4	+	2	556	c.168C>T	c.(166-168)tcC>tcT	p.S56S	MAPK14_ENST00000468133.1_5'UTR|MAPK14_ENST00000310795.4_Silent_p.S56S|MAPK14_ENST00000229795.3_Silent_p.S56S	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	56	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|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)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						AGAAGCTCTCCAGACCATTTC	0.383																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)	uc003olp.2		NaN																	0				ovary(2)|stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(166-168)TCC>TCT		mitogen-activated protein kinase 14 isoform 1							119.0	116.0	117.0					6																	36020527		2203	4300	6503	SO:0001819	synonymous_variant	1432				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding	g.chr6:36020527C>T	L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.168C>T	6.37:g.36020527C>T						MAPK14_uc011dth.1_Silent_p.S56S|MAPK14_uc003olo.2_Silent_p.S56S|MAPK14_uc003olq.2_Silent_p.S56S|MAPK14_uc003olr.2_Silent_p.S56S|MAPK14_uc011dti.1_5'UTR	p.S56S	NM_001315	NP_001306	Q16539	MK14_HUMAN			2	649	+			56			Protein kinase.		A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Silent	SNP	ENST00000229794.4	37	c.168C>T	CCDS4816.1																																																																																				0.383	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1		NM_001315		32	93	0	0	0	1	0	32	93		
PPIL1	51645	broad.mit.edu	37	6	36823787	36823787	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:36823787G>A	ENST00000373699.5	-	4	554	c.303C>T	c.(301-303)gcC>gcT	p.A101A	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	101	Cyclosporin A binding.|PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			lung(1)|ovary(1)	2						GCCCCGCATTGGCCATTGCGA	0.552																																						uc003omu.2		NaN																	0				ovary(1)	1						c.(301-303)GCC>GCT		peptidylprolyl isomerase-like 1							43.0	43.0	43.0					6																	36823787		2203	4300	6503	SO:0001819	synonymous_variant	51645				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr6:36823787G>A	AF090992	CCDS4826.1	6p21.1	2008-08-29			ENSG00000137168	ENSG00000137168			9260	protein-coding gene	gene with protein product		601301				10072585, 8978786	Standard	NM_016059		Approved	CYPL1	uc003omu.2	Q9Y3C6	OTTHUMG00000014612	ENST00000373699.5:c.303C>T	6.37:g.36823787G>A							p.A101A	NM_016059	NP_057143	Q9Y3C6	PPIL1_HUMAN			4	555	-			101			PPIase cyclophilin-type.|Cyclosporin A binding.		O15001|Q5TDC9	Silent	SNP	ENST00000373699.5	37	c.303C>T	CCDS4826.1																																																																																				0.552	PPIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040382.1				23	23	0	0	0	1	0	23	23		
LRFN2	57497	broad.mit.edu	37	6	40399707	40399707	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:40399707G>C	ENST00000338305.6	-	2	1688	c.1146C>G	c.(1144-1146)ctC>ctG	p.L382L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	382						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGCTGTTGCTGAGGTGTGGCA	0.652																																						uc003oph.1		NaN																	0				ovary(2)|skin(1)	3						c.(1144-1146)CTC>CTG		leucine rich repeat and fibronectin type III							60.0	47.0	51.0					6																	40399707		2203	4299	6502	SO:0001819	synonymous_variant	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40399707G>C	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1146C>G	6.37:g.40399707G>C							p.L382L	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	1611	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		382			Extracellular (Potential).		A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	37	c.1146C>G	CCDS34443.1																																																																																				0.652	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1		XM_166372		23	50	0	0	0	1	0	23	50		
PRPH2	5961	broad.mit.edu	37	6	42689881	42689881	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:42689881C>G	ENST00000230381.5	-	1	431	c.192G>C	c.(190-192)ttG>ttC	p.L64F		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	64					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CCATCCCTATCAATGAGTTGG	0.517																																						uc003osk.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(190-192)TTG>TTC		peripherin 2							124.0	98.0	107.0					6																	42689881		2203	4300	6503	SO:0001583	missense	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42689881C>G		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.192G>C	6.37:g.42689881C>G	ENSP00000230381:p.Leu64Phe						p.L64F	NM_000322	NP_000313	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		1	478	-	Colorectal(47;0.196)		64			Helical; (Potential).		Q5TFH5|Q6DK65	Missense_Mutation	SNP	ENST00000230381.5	37	c.192G>C	CCDS4871.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667069	0.67814	.	.	ENSG00000112619	ENST00000230381	T	0.81247	-1.47	5.81	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.89083	0.6614	M	0.85542	2.76	0.53005	D	0.999961	D	0.89917	1.0	D	0.97110	1.0	D	0.88299	0.2948	10	0.44086	T	0.13	.	17.0052	0.86391	0.0:0.8732:0.1268:0.0	.	64	P23942	PRPH2_HUMAN	F	64	ENSP00000230381:L64F	ENSP00000230381:L64F	L	-	3	2	PRPH2	42797859	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.086000	0.30853	2.741000	0.93983	0.655000	0.94253	TTG		0.517	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1		NM_000322		78	70	0	0	0	1	0	78	70		
ME1	4199	broad.mit.edu	37	6	84108173	84108173	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:84108173G>C	ENST00000369705.3	-	3	391	c.275C>G	c.(274-276)tCt>tGt	p.S92C	ME1_ENST00000543031.1_Missense_Mutation_p.S17C|ME1_ENST00000541327.1_Intron	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	92					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		CTCAATGTCAGATGTCAGCAC	0.363																																						uc003pjy.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(274-276)TCT>TGT		cytosolic malic enzyme 1	NADH(DB00157)						70.0	66.0	67.0					6																	84108173		2203	4300	6503	SO:0001583	missense	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:84108173G>C	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.275C>G	6.37:g.84108173G>C	ENSP00000358719:p.Ser92Cys					ME1_uc011dzb.1_Missense_Mutation_p.S17C|ME1_uc011dzc.1_Intron	p.S92C	NM_002395	NP_002386	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	3	381	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	92					B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	c.275C>G	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440450	0.43326	.	.	ENSG00000065833	ENST00000369705;ENST00000543031	T;T	0.46063	0.88;0.88	5.86	5.86	0.93980	Malic enzyme, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.66386	0.2784	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.70392	-0.4884	10	0.87932	D	0	-21.0933	20.1876	0.98223	0.0:0.0:1.0:0.0	.	92	P48163	MAOX_HUMAN	C	92;17	ENSP00000358719:S92C;ENSP00000446114:S17C	ENSP00000358719:S92C	S	-	2	0	ME1	84164892	1.000000	0.71417	0.980000	0.43619	0.063000	0.16089	5.653000	0.67967	2.765000	0.95021	0.655000	0.94253	TCT		0.363	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1				14	54	0	0	0	1	0	14	54		
MDN1	23195	broad.mit.edu	37	6	90425454	90425454	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:90425454C>G	ENST00000369393.3	-	45	6893	c.6778G>C	c.(6778-6780)Gaa>Caa	p.E2260Q	MDN1_ENST00000428876.1_Missense_Mutation_p.E2260Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2260					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCTCCGGGTTCAAGCAAAGCA	0.448																																						uc003pnn.1		NaN																	0				ovary(8)|skin(2)	10						c.(6778-6780)GAA>CAA		MDN1, midasin homolog							152.0	136.0	142.0					6																	90425454		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90425454C>G	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6778G>C	6.37:g.90425454C>G	ENSP00000358400:p.Glu2260Gln						p.E2260Q	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	45	6894	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2260					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.6778G>C	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311448	0.81358	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.50813	0.73;0.73	5.51	5.51	0.81932	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83576	0.0115	10	0.87932	D	0	.	19.7818	0.96418	0.0:1.0:0.0:0.0	.	2260	Q9NU22	MDN1_HUMAN	Q	2260	ENSP00000358400:E2260Q;ENSP00000413970:E2260Q	ENSP00000358400:E2260Q	E	-	1	0	MDN1	90482175	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.583000	0.82559	2.736000	0.93811	0.655000	0.94253	GAA		0.448	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2				28	107	0	0	0	1	0	28	107		
PREP	5550	broad.mit.edu	37	6	105825294	105825294	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:105825294G>A	ENST00000369110.3	-	3	413	c.221C>T	c.(220-222)cCc>cTc	p.P74L		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	74					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ACTATACTTGGGATAATCATA	0.358																																						uc003prc.2		NaN																	0				ovary(3)	3						c.(220-222)CCC>CTC		prolyl endopeptidase	Oxytocin(DB00107)						150.0	148.0	149.0					6																	105825294		2203	4300	6503	SO:0001583	missense	5550				proteolysis		serine-type endopeptidase activity	g.chr6:105825294G>A		CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.221C>T	6.37:g.105825294G>A	ENSP00000358106:p.Pro74Leu						p.P74L	NM_002726	NP_002717	P48147	PPCE_HUMAN			3	424	-		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)	74					Q8N6D4	Missense_Mutation	SNP	ENST00000369110.3	37	c.221C>T	CCDS5053.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963848	0.92791	.	.	ENSG00000085377	ENST00000369110	T	0.45668	0.89	5.76	5.76	0.90799	Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.000000	0.85682	D	0.000000	T	0.70072	0.3182	M	0.92317	3.295	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.77091	-0.2716	10	0.72032	D	0.01	-20.1417	19.9693	0.97278	0.0:0.0:1.0:0.0	.	74	P48147	PPCE_HUMAN	L	74	ENSP00000358106:P74L	ENSP00000358106:P74L	P	-	2	0	PREP	105931987	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.373000	0.97168	2.700000	0.92200	0.650000	0.86243	CCC		0.358	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041658.1				29	106	0	0	0	1	0	29	106		
MARCKS	4082	broad.mit.edu	37	6	114181750	114181750	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:114181750G>C	ENST00000368635.4	+	2	1375	c.994G>C	c.(994-996)Gag>Cag	p.E332Q		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	332					energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|germinal vesicle (GO:0042585)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|calmodulin binding (GO:0005516)			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		GGAGGCGGCAGAGTAAAAGAG	0.597																																						uc003pvy.3		NaN																	0					0						c.(994-996)GAG>CAG		myristoylated alanine-rich protein kinase C							44.0	57.0	52.0					6																	114181750		1675	3280	4955	SO:0001583	missense	4082				energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding	g.chr6:114181750G>C	M68956	CCDS5101.1	6q21	2014-04-10	2001-12-17	2001-12-20	ENSG00000155130	ENSG00000277443			6759	protein-coding gene	gene with protein product		177061	"""myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)"""	MACS		1560845, 8420923	Standard	NM_002356		Approved	PKCSL, 80K-L	uc003pvy.4	P29966	OTTHUMG00000188327	ENST00000368635.4:c.994G>C	6.37:g.114181750G>C	ENSP00000357624:p.Glu332Gln						p.E332Q	NM_002356	NP_002347	P29966	MARCS_HUMAN		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)	2	1389	+		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)	332					E1P560|Q2LA83|Q5TDB7	Missense_Mutation	SNP	ENST00000368635.4	37	c.994G>C	CCDS5101.1	.	.	.	.	.	.	.	.	.	.	G	7.563	0.665079	0.14710	.	.	ENSG00000155130	ENST00000368635	T	0.39997	1.05	4.66	3.76	0.43208	.	0.542732	0.15841	N	0.242060	T	0.16428	0.0395	N	0.19112	0.55	0.36221	D	0.852025	B	0.20550	0.046	B	0.17979	0.02	T	0.08066	-1.0740	10	0.87932	D	0	.	13.83	0.63375	0.0:0.1551:0.8449:0.0	.	332	P29966	MARCS_HUMAN	Q	332	ENSP00000357624:E332Q	ENSP00000357624:E332Q	E	+	1	0	MARCKS	114288443	0.997000	0.39634	0.775000	0.31657	0.190000	0.23558	2.634000	0.46528	1.266000	0.44231	0.650000	0.86243	GAG		0.597	MARCKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041903.1		NM_002356		73	53	0	0	0	1	0	73	53		
PLN	5350	broad.mit.edu	37	6	118880088	118880088	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:118880088G>C	ENST00000357525.5	+	2	196	c.4G>C	c.(4-6)Gag>Cag	p.E2Q	CEP85L_ENST00000368488.5_Intron|CEP85L_ENST00000419517.2_Intron|CEP85L_ENST00000368491.3_Intron|CEP85L_ENST00000360290.3_Intron|CEP85L_ENST00000392500.3_Intron	NM_002667.3	NP_002658.1	P26678	PPLA_HUMAN	phospholamban	2					adrenergic receptor signaling pathway involved in heart process (GO:0086023)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cardiac muscle tissue development (GO:0048738)|cytosolic calcium ion homeostasis (GO:0051480)|negative regulation of ATPase activity (GO:0032780)|negative regulation of calcium ion binding (GO:1901877)|negative regulation of calcium ion import (GO:0090281)|negative regulation of calcium ion import into sarcoplasmic reticulum (GO:1902081)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium-transporting ATPase activity (GO:1901895)|negative regulation of catalytic activity (GO:0043086)|negative regulation of heart rate (GO:0010459)|protein homooligomerization (GO:0051260)|regulation of calcium ion transport (GO:0051924)|regulation of calcium-transporting ATPase activity (GO:1901894)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart contraction (GO:0008016)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of the force of heart contraction by cardiac conduction (GO:0086092)|relaxation of cardiac muscle (GO:0055119)|response to testosterone (GO:0033574)|response to zinc ion (GO:0010043)	calcium ion-transporting ATPase complex (GO:0090534)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|vesicle (GO:0031982)	ATPase binding (GO:0051117)|ATPase inhibitor activity (GO:0042030)|calcium channel regulator activity (GO:0005246)|enzyme inhibitor activity (GO:0004857)|identical protein binding (GO:0042802)			large_intestine(1)|lung(3)	4		all_cancers(87;0.0916)|all_epithelial(87;0.131)		GBM - Glioblastoma multiforme(226;0.0325)|all cancers(137;0.154)|OV - Ovarian serous cystadenocarcinoma(136;0.176)		TGGTATCATGGAGAAAGTCCA	0.403																																						uc003pye.2		NaN																	0					0						c.(4-6)GAG>CAG		phospholamban							111.0	99.0	103.0					6																	118880088		2203	4300	6503	SO:0001583	missense	5350				blood circulation|regulation of calcium ion transport	integral to membrane|mitochondrial membrane|sarcoplasmic reticulum	calcium channel regulator activity|protein binding	g.chr6:118880088G>C		CCDS5120.1	6q22.1	2014-09-17			ENSG00000198523	ENSG00000198523			9080	protein-coding gene	gene with protein product		172405		PLB		1828805	Standard	NM_002667		Approved	CMD1P	uc003pye.3	P26678	OTTHUMG00000015462	ENST00000357525.5:c.4G>C	6.37:g.118880088G>C	ENSP00000350132:p.Glu2Gln					C6orf204_uc003pxz.1_Intron|C6orf204_uc003pya.1_Intron|C6orf204_uc003pyb.2_Intron|C6orf204_uc011ebj.1_Intron|C6orf204_uc003pyc.2_Intron	p.E2Q	NM_002667	NP_002658	P26678	PPLA_HUMAN		GBM - Glioblastoma multiforme(226;0.0325)|all cancers(137;0.154)|OV - Ovarian serous cystadenocarcinoma(136;0.176)	2	215	+		all_cancers(87;0.0916)|all_epithelial(87;0.131)	2			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000357525.5	37	c.4G>C	CCDS5120.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.385715	0.42308	.	.	ENSG00000198523	ENST00000357525	D	0.91351	-2.83	5.72	5.72	0.89469	.	0.130050	0.49305	D	0.000160	D	0.87212	0.6121	.	.	.	0.52501	D	0.999957	B	0.25169	0.119	B	0.32090	0.14	D	0.84354	0.0534	9	0.56958	D	0.05	0.0154	19.8805	0.96895	0.0:0.0:1.0:0.0	.	2	P26678	PPLA_HUMAN	Q	2	ENSP00000350132:E2Q	ENSP00000350132:E2Q	E	+	1	0	PLN	118986781	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	8.158000	0.89649	2.704000	0.92352	0.655000	0.94253	GAG		0.403	PLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041993.1		NM_002667		17	17	0	0	0	1	0	17	17		
PTPRK	5796	broad.mit.edu	37	6	128318060	128318060	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:128318060C>A	ENST00000368215.3	-	17	2749	c.2750G>T	c.(2749-2751)gGa>gTa	p.G917V	PTPRK_ENST00000532331.1_Missense_Mutation_p.G934V|PTPRK_ENST00000368207.3_Missense_Mutation_p.G944V|PTPRK_ENST00000368210.3_Missense_Mutation_p.G930V|PTPRK_ENST00000368226.4_Missense_Mutation_p.G918V|PTPRK_ENST00000368227.3_Missense_Mutation_p.G930V|PTPRK_ENST00000368213.5_Missense_Mutation_p.G918V			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	917	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TATAATGTTTCCATATCGGTT	0.333																																						uc003qbk.2		NaN																	0				ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.(2749-2751)GGA>GTA		protein tyrosine phosphatase, receptor type, K							104.0	95.0	98.0					6																	128318060		2202	4300	6502	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128318060C>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2750G>T	6.37:g.128318060C>A	ENSP00000357198:p.Gly917Val					PTPRK_uc003qbj.2_Missense_Mutation_p.G918V|PTPRK_uc010kfc.2_Missense_Mutation_p.G918V|PTPRK_uc011ebu.1_Missense_Mutation_p.G934V	p.G917V	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	17	3117	-			917			Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.2750G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.648541|4.648541	0.87958|0.87958	.|.	.|.	ENSG00000152894|ENSG00000152894	ENST00000415046|ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000415055	.|D;D;D;D;D;D;D;D	.|0.83419	.|-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.98|5.98	5.98|5.98	0.97165|0.97165	.|Protein-tyrosine phosphatase, receptor/non-receptor type (3);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.85004	.|0.5598	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.71674	.|0.997;0.985;0.998;0.997	.|D;P;D;P	.|0.66497	.|0.916;0.715;0.944;0.906	.|D	.|0.85109	.|0.0962	.|10	.|0.56958	.|D	.|0.05	.|.	20.4292|20.4292	0.99080|0.99080	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|934;918;917;918	.|B7ZMG0;Q15262-3;Q15262;Q15262-2	.|.;.;PTPRK_HUMAN;.	X|V	211|918;930;934;918;930;917;944;177	.|ENSP00000357209:G918V;ENSP00000357210:G930V;ENSP00000432973:G934V;ENSP00000357196:G918V;ENSP00000357193:G930V;ENSP00000357198:G917V;ENSP00000357190:G944V;ENSP00000408180:G177V	.|ENSP00000357190:G944V	E|G	-|-	1|2	0|0	PTPRK|PTPRK	128359753|128359753	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.794000|7.794000	0.85869|0.85869	2.839000|2.839000	0.97877|0.97877	0.650000|0.650000	0.86243|0.86243	GAA|GGA		0.333	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1				9	19	1	0	0.0135373	1	0.0135816	9	19		
HIVEP2	3097	broad.mit.edu	37	6	143095470	143095470	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:143095470C>T	ENST00000367604.1	-	4	1045	c.406G>A	c.(406-408)Gag>Aag	p.E136K	HIVEP2_ENST00000367603.2_Missense_Mutation_p.E136K|HIVEP2_ENST00000012134.2_Missense_Mutation_p.E136K			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	136					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(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AATAAGTCCTCAGAGGCAACG	0.502																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(406-408)GAG>AAG		human immunodeficiency virus type I enhancer							123.0	128.0	127.0					6																	143095470		1979	4152	6131	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143095470C>T	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.406G>A	6.37:g.143095470C>T	ENSP00000356576:p.Glu136Lys						p.E136K	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	5	1149	-			136					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.406G>A	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168732	0.57584	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02369	4.32;4.32;4.32	5.69	5.69	0.88448	.	0.149793	0.64402	D	0.000012	T	0.01976	0.0062	L	0.60455	1.87	0.53688	D	0.999976	P	0.40050	0.7	B	0.33568	0.166	T	0.60835	-0.7184	10	0.17369	T	0.5	-20.0918	19.8062	0.96532	0.0:1.0:0.0:0.0	.	136	P31629	ZEP2_HUMAN	K	136	ENSP00000356576:E136K;ENSP00000356575:E136K;ENSP00000012134:E136K	ENSP00000012134:E136K	E	-	1	0	HIVEP2	143137163	1.000000	0.71417	0.987000	0.45799	0.936000	0.57629	7.445000	0.80570	2.679000	0.91253	0.655000	0.94253	GAG		0.502	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1				77	71	0	0	0	1	0	77	71		
UTRN	7402	broad.mit.edu	37	6	145051568	145051568	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:145051568G>A	ENST00000367545.3	+	53	7885	c.7885G>A	c.(7885-7887)Gat>Aat	p.D2629N	UTRN_ENST00000367526.4_Missense_Mutation_p.D184N	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2629					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.D2629N(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTTCTTGGCTGATCAGCCAAT	0.448																																						uc003qkt.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(7885-7887)GAT>AAT		utrophin							84.0	90.0	88.0					6																	145051568		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145051568G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.7885G>A	6.37:g.145051568G>A	ENSP00000356515:p.Asp2629Asn						p.D2629N	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	53	7977	+		Ovarian(120;0.218)	2629			Spectrin 18.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.7885G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808882	0.50421	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.34472	1.36;1.36	5.41	5.41	0.78517	.	0.000000	0.50627	D	0.000114	T	0.13927	0.0337	L	0.32530	0.975	0.41217	D	0.986488	B	0.24426	0.103	B	0.27715	0.082	T	0.04128	-1.0975	10	0.09590	T	0.72	.	14.4163	0.67153	0.073:0.0:0.927:0.0	.	2629	P46939	UTRO_HUMAN	N	2629;184	ENSP00000356515:D2629N;ENSP00000356496:D184N	ENSP00000356496:D184N	D	+	1	0	UTRN	145093261	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.869000	0.75521	2.559000	0.86315	0.650000	0.86243	GAT		0.448	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1				19	39	0	0	0	1	0	19	39		
RAET1E	135250	broad.mit.edu	37	6	150210659	150210659	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:150210659G>C	ENST00000357183.4	-	3	579	c.447C>G	c.(445-447)ctC>ctG	p.L149L	RAET1E_ENST00000367363.3_Silent_p.L113L|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000529948.1_Silent_p.L149L|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000532335.1_Silent_p.L149L|RAET1E-AS1_ENST00000446954.2_RNA	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	149	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TTGCGTCAAAGAGGAGGGATT	0.468																																						uc003qnl.1		NaN																	0					0						c.(445-447)CTC>CTG		retinoic acid early transcript 1E precursor							166.0	139.0	148.0					6																	150210659		2203	4300	6503	SO:0001819	synonymous_variant	135250				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150210659G>C	AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.447C>G	6.37:g.150210659G>C						uc003qni.1_Intron|RAET1E_uc003qnj.2_Silent_p.L149L|RAET1E_uc003qnk.1_Silent_p.L113L|RAET1E_uc010kih.1_RNA	p.L149L	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	3	507	-		Ovarian(120;0.0907)	149			Extracellular (Potential).|MHC class I alpha-2 like.		A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Silent	SNP	ENST00000357183.4	37	c.447C>G	CCDS5221.1																																																																																				0.468	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1		NM_139165		84	69	0	0	0	1	0	84	69		
ARID1B	57492	broad.mit.edu	37	6	157256700	157256700	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNASeq;WGS			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:157256700C>G	ENST00000350026.5	+	4	1989	c.1988C>G	c.(1987-1989)tCa>tGa	p.S663*	ARID1B_ENST00000346085.5_Nonsense_Mutation_p.S676*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.S663*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.S605*	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	663					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GAAAGACCATCAAGTTTACCA	0.373																																						uc003qqn.2		NaN																	0				ovary(1)|breast(1)	2						c.(1813-1815)TCA>TGA		AT rich interactive domain 1B (SWI1-like)							127.0	114.0	118.0					6																	157256700		2203	4300	6503	SO:0001587	stop_gained	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157256700C>G	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.1988C>G	6.37:g.157256700C>G	ENSP00000055163:p.Ser663*					ARID1B_uc003qqo.2_Nonsense_Mutation_p.S618*|ARID1B_uc003qqp.2_Nonsense_Mutation_p.S605*|ARID1B_uc003qqq.1_Nonsense_Mutation_p.S33*	p.S605*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	4	1966	+		Breast(66;0.000162)|Ovarian(120;0.0265)	663					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Nonsense_Mutation	SNP	ENST00000350026.5	37	c.1814C>G	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	39	7.636791	0.98403	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000535255;ENST00000414678;ENST00000319584	.	.	.	5.71	5.71	0.89125	.	0.191111	0.34725	N	0.003721	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8604	0.96781	0.0:1.0:0.0:0.0	.	.	.	.	X	676;663;663;605;84;33;162;85	.	ENSP00000275248:S605X	S	+	2	0	ARID1B	157298392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.989000	0.70587	2.699000	0.92147	0.650000	0.86243	TCA		0.373	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1		NM_020732		17	58	0	0	0	1	0	17	58		
SUN1	23353	broad.mit.edu	37	7	872165	872165	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:872165G>C	ENST00000405266.1	+	1	28	c.4G>C	c.(4-6)Gat>Cat	p.D2H	SUN1_ENST00000452783.2_Missense_Mutation_p.D2H|SUN1_ENST00000425407.2_5'UTR|SUN1_ENST00000456758.2_Missense_Mutation_p.D60H|SUN1_ENST00000403868.1_Missense_Mutation_p.D2H|SUN1_ENST00000457378.2_Missense_Mutation_p.D23H|SUN1_ENST00000401592.1_Missense_Mutation_p.D2H|SUN1_ENST00000389574.3_Intron			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	2	LMNA-binding.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTGAACATGGATTTTTCTCG	0.537																																						uc011jvp.1		NaN																	0					0						c.(4-6)GAT>CAT		unc-84 homolog A isoform a							70.0	57.0	61.0					7																	872165		1568	3582	5150	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:872165G>C	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.4G>C	7.37:g.872165G>C	ENSP00000384116:p.Asp2His					SUN1_uc010ksa.1_Missense_Mutation_p.D23H|SUN1_uc003sje.1_Missense_Mutation_p.D2H|SUN1_uc003sjf.2_Intron|SUN1_uc011jvq.1_Missense_Mutation_p.D2H	p.D2H	NM_001130965	NP_001124437	O94901	SUN1_HUMAN			2	83	+			2			Nuclear.|LMNA-binding.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37	c.4G>C		.	.	.	.	.	.	.	.	.	.	G	23.1	4.372266	0.82573	.	.	ENSG00000164828	ENST00000456758;ENST00000457378;ENST00000452783;ENST00000435699;ENST00000440380;ENST00000439679;ENST00000424128;ENST00000457598;ENST00000421580;ENST00000405266;ENST00000401592;ENST00000403868;ENST00000297445	T;T;T;T;T;T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.72518	0.3470	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.999;1.0;1.0	T	0.77109	-0.2709	10	0.87932	D	0	-30.6053	17.2064	0.86920	0.0:0.0:1.0:0.0	.	2;2;23;2	E9PDU4;E9PF23;F8WD13;O94901-3	.;.;.;.	H	60;23;2;2;2;2;2;2;2;2;2;2;2	ENSP00000388743:D60H;ENSP00000395952:D23H;ENSP00000413439:D2H;ENSP00000388430:D2H;ENSP00000399549:D2H;ENSP00000413188:D2H;ENSP00000394597:D2H;ENSP00000404965:D2H;ENSP00000394381:D2H;ENSP00000384116:D2H;ENSP00000384015:D2H;ENSP00000383947:D2H	ENSP00000297445:D2H	D	+	1	0	SUN1	838691	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.762000	0.74950	2.425000	0.82216	0.561000	0.74099	GAT		0.537	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1		NM_025154		12	17	0	0	0	1	0	12	17		
SUN1	23353	broad.mit.edu	37	7	872210	872210	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:872210G>C	ENST00000405266.1	+	1	73	c.49G>C	c.(49-51)Gag>Cag	p.E17Q	SUN1_ENST00000452783.2_Missense_Mutation_p.E17Q|SUN1_ENST00000425407.2_5'UTR|SUN1_ENST00000456758.2_Missense_Mutation_p.E75Q|SUN1_ENST00000403868.1_Missense_Mutation_p.E17Q|SUN1_ENST00000457378.2_Missense_Mutation_p.E38Q|SUN1_ENST00000401592.1_Missense_Mutation_p.E17Q|SUN1_ENST00000389574.3_Intron			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	17	LMNA-binding.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGTGTGCCGGAGAACACGGG	0.562																																						uc011jvp.1		NaN																	0					0						c.(49-51)GAG>CAG		unc-84 homolog A isoform a							75.0	61.0	66.0					7																	872210		1568	3582	5150	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:872210G>C	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.49G>C	7.37:g.872210G>C	ENSP00000384116:p.Glu17Gln					SUN1_uc010ksa.1_Missense_Mutation_p.E38Q|SUN1_uc003sje.1_Missense_Mutation_p.E17Q|SUN1_uc003sjf.2_Intron|SUN1_uc011jvq.1_Missense_Mutation_p.E17Q	p.E17Q	NM_001130965	NP_001124437	O94901	SUN1_HUMAN			2	128	+			17			Nuclear.|LMNA-binding.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37	c.49G>C		.	.	.	.	.	.	.	.	.	.	G	26.6	4.750118	0.89753	.	.	ENSG00000164828	ENST00000456758;ENST00000457378;ENST00000452783;ENST00000435699;ENST00000440380;ENST00000439679;ENST00000424128;ENST00000457598;ENST00000421580;ENST00000405266;ENST00000401592;ENST00000403868;ENST00000297445	T;T;T;T;T;T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.0	5.0	0.66597	.	0.141685	0.64402	D	0.000005	T	0.66597	0.2805	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;0.999	D;D;D;D	0.91635	0.916;0.997;0.999;0.974	T	0.73145	-0.4075	10	0.72032	D	0.01	-29.8325	17.4068	0.87475	0.0:0.0:1.0:0.0	.	17;17;38;17	E9PDU4;E9PF23;F8WD13;O94901-3	.;.;.;.	Q	75;38;17;17;17;17;17;17;17;17;17;17;17	ENSP00000388743:E75Q;ENSP00000395952:E38Q;ENSP00000413439:E17Q;ENSP00000388430:E17Q;ENSP00000399549:E17Q;ENSP00000413188:E17Q;ENSP00000394597:E17Q;ENSP00000404965:E17Q;ENSP00000394381:E17Q;ENSP00000384116:E17Q;ENSP00000384015:E17Q;ENSP00000383947:E17Q	ENSP00000297445:E17Q	E	+	1	0	SUN1	838736	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	6.762000	0.74950	2.473000	0.83533	0.561000	0.74099	GAG		0.562	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1		NM_025154		9	16	0	0	0	1	0	9	16		
HDAC9	9734	broad.mit.edu	37	7	18767220	18767220	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:18767220G>A	ENST00000432645.2	+	12	1740	c.1740G>A	c.(1738-1740)acG>acA	p.T580T	HDAC9_ENST00000441542.2_Silent_p.T583T|HDAC9_ENST00000406451.4_Silent_p.T580T|HDAC9_ENST00000401921.1_Silent_p.T539T	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	580					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGGAACCCACGCACACACGTG	0.527																																						uc003suh.2		NaN																	0				lung(2)|central_nervous_system(2)|kidney(1)	5						c.(1738-1740)ACG>ACA		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						32.0	36.0	34.0					7																	18767220		2021	4169	6190	SO:0001819	synonymous_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18767220G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1740G>A	7.37:g.18767220G>A						HDAC9_uc003sue.2_Silent_p.T580T|HDAC9_uc011jyd.1_Silent_p.T580T|HDAC9_uc003sui.2_Silent_p.T583T|HDAC9_uc003suj.2_Silent_p.T539T|HDAC9_uc003sua.1_Silent_p.T558T|HDAC9_uc010kue.1_Silent_p.T235T	p.T580T	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			12	1781	+	all_lung(11;0.187)		580					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	ENST00000432645.2	37	c.1740G>A	CCDS47555.1																																																																																				0.527	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1				4	14	0	0	0	1	0	4	14		
ABCB5	340273	broad.mit.edu	37	7	20766683	20766683	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:20766683G>C	ENST00000404938.2	+	22	3298	c.2646G>C	c.(2644-2646)gaG>gaC	p.E882D	ABCB5_ENST00000258738.6_Missense_Mutation_p.E437D	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	882	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAGCTTTGGAGAATATACGTA	0.328																																						uc003suw.3		NaN																	0				skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(1309-1311)GAG>GAC		ATP-binding cassette, sub-family B, member 5							93.0	98.0	96.0					7																	20766683		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20766683G>C	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2646G>C	7.37:g.20766683G>C	ENSP00000384881:p.Glu882Asp					ABCB5_uc010kuh.2_Missense_Mutation_p.E882D|ABCB5_uc003sux.1_Missense_Mutation_p.E60D	p.E437D	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			13	1857	+			437			Cytoplasmic (Potential).|ABC transmembrane type-1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.1311G>C	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139692	0.37728	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.89939	-2.59;-2.59	4.54	1.62	0.23740	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.187601	0.35040	N	0.003500	D	0.85155	0.5632	L	0.56199	1.76	0.33421	D	0.579881	B;B;B	0.27951	0.116;0.006;0.195	B;B;B	0.37943	0.082;0.035;0.261	T	0.81337	-0.0978	10	0.45353	T	0.12	.	4.425	0.11498	0.2301:0.0:0.5956:0.1743	.	882;60;437	A7BKA4;A0ASV4;Q2M3G0	.;.;ABCB5_HUMAN	D	882;437	ENSP00000384881:E882D;ENSP00000258738:E437D	ENSP00000258738:E437D	E	+	3	2	ABCB5	20733208	0.977000	0.34250	1.000000	0.80357	0.991000	0.79684	-0.044000	0.12023	0.356000	0.24157	0.655000	0.94253	GAG		0.328	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2		NM_178559		33	48	0	0	0	1	0	33	48		
STK31	56164	broad.mit.edu	37	7	23821065	23821065	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:23821065G>C	ENST00000355870.3	+	16	2112	c.1993G>C	c.(1993-1995)Gag>Cag	p.E665Q	STK31_ENST00000354639.3_Missense_Mutation_p.E642Q|STK31_ENST00000433467.2_Missense_Mutation_p.E665Q|STK31_ENST00000428484.1_Missense_Mutation_p.E642Q|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	665						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTCTCAAATTGAGAAAATAAA	0.299																																						uc003sws.3		NaN																	0				skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(1993-1995)GAG>CAG		serine/threonine kinase 31 isoform a							61.0	67.0	65.0					7																	23821065		2203	4292	6495	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23821065G>C	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1993G>C	7.37:g.23821065G>C	ENSP00000348132:p.Glu665Gln					STK31_uc003swt.3_Missense_Mutation_p.E642Q|STK31_uc011jze.1_Missense_Mutation_p.E665Q|STK31_uc010kuq.2_Missense_Mutation_p.E642Q	p.E665Q	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			16	2060	+			665					B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.1993G>C	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	7.830	0.719710	0.15372	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.68765	-0.35;1.36;-0.35;-0.35	5.07	4.13	0.48395	.	0.431297	0.22747	N	0.056132	T	0.56262	0.1973	L	0.57536	1.79	0.24925	N	0.991954	P;B	0.48230	0.907;0.431	B;B	0.41764	0.366;0.093	T	0.50127	-0.8864	10	0.17832	T	0.49	-13.2172	6.2278	0.20718	0.1244:0.0:0.6972:0.1783	.	665;665	B4DZ06;Q9BXU1	.;STK31_HUMAN	Q	665;665;642;642	ENSP00000348132:E665Q;ENSP00000411852:E665Q;ENSP00000346660:E642Q;ENSP00000406146:E642Q	ENSP00000346660:E642Q	E	+	1	0	STK31	23787590	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	2.297000	0.43593	2.369000	0.80426	0.467000	0.42956	GAG		0.299	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2		NM_031414		20	43	0	0	0	1	0	20	43		
VPS41	27072	broad.mit.edu	37	7	38860835	38860835	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:38860835C>G	ENST00000310301.4	-	6	406	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q	VPS41_ENST00000395969.2_Missense_Mutation_p.E93Q	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	118					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TCGTGAAATTCTTCTCCAGAA	0.368																																						uc003tgy.2		NaN																	0				skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(352-354)GAA>CAA		vacuolar protein sorting 41 isoform 1							98.0	102.0	101.0					7																	38860835		2203	4300	6503	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38860835C>G	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.352G>C	7.37:g.38860835C>G	ENSP00000309457:p.Glu118Gln					VPS41_uc003tgz.2_Missense_Mutation_p.E93Q|VPS41_uc010kxn.2_Missense_Mutation_p.E118Q	p.E118Q	NM_014396	NP_055211	P49754	VPS41_HUMAN			6	378	-			118					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.352G>C	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.815907	0.70912	.	.	ENSG00000006715	ENST00000310301;ENST00000395969;ENST00000413141;ENST00000414632;ENST00000418457;ENST00000457055	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.048886	0.85682	D	0.000000	T	0.33731	0.0873	N	0.22421	0.69	0.46981	D	0.999273	P;P;P	0.34909	0.475;0.475;0.475	B;B;B	0.29176	0.099;0.099;0.099	T	0.10222	-1.0639	10	0.17369	T	0.5	-22.3689	18.4176	0.90575	0.0:1.0:0.0:0.0	.	118;93;118	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	Q	118;93;44;105;68;68	ENSP00000309457:E118Q;ENSP00000379297:E93Q;ENSP00000412974:E44Q;ENSP00000411919:E105Q;ENSP00000407835:E68Q;ENSP00000398584:E68Q	ENSP00000265745:E118Q	E	-	1	0	VPS41	38827360	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.206000	0.72154	2.788000	0.95919	0.555000	0.69702	GAA		0.368	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3				75	102	0	0	0	1	0	75	102		
POLM	27434	broad.mit.edu	37	7	44119193	44119193	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:44119193C>G	ENST00000242248.5	-	4	720	c.619G>C	c.(619-621)Gaa>Caa	p.E207Q	POLM_ENST00000492971.1_5'Flank|POLM_ENST00000395831.3_Missense_Mutation_p.E207Q|POLM_ENST00000335195.6_Missense_Mutation_p.E207Q	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	207					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GAGGAGTGTTCTCCAAAGTGG	0.637								DNA polymerases (catalytic subunits)																														uc003tjt.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(619-621)GAA>CAA	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase mu							55.0	57.0	56.0					7																	44119193		2203	4300	6503	SO:0001583	missense	27434				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr7:44119193C>G	AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.619G>C	7.37:g.44119193C>G	ENSP00000242248:p.Glu207Gln					POLM_uc003tjw.1_5'Flank|POLM_uc003tju.2_Missense_Mutation_p.E207Q|POLM_uc003tjx.2_Missense_Mutation_p.E207Q|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Intron|POLM_uc003tka.1_5'Flank|POLM_uc003tjz.3_Missense_Mutation_p.E207Q|POLM_uc011kbu.1_Missense_Mutation_p.E174Q|POLM_uc010kxy.2_Missense_Mutation_p.E207Q	p.E207Q	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN			4	711	-			207					D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	37	c.619G>C	CCDS34625.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350119	0.82132	.	.	ENSG00000122678	ENST00000335195;ENST00000242248;ENST00000395831	T;T;T	0.47869	0.83;0.83;0.83	5.49	4.61	0.57282	DNA-directed DNA polymerase X (1);DNA-directed DNA polymerase, family X, beta-like, N-terminal (2);	0.589901	0.19706	N	0.107934	T	0.53334	0.1790	L	0.40543	1.245	0.34241	D	0.677654	P;D;D;D;D;D	0.65815	0.893;0.966;0.98;0.985;0.995;0.973	P;B;P;P;P;P	0.59357	0.496;0.411;0.773;0.775;0.856;0.567	T	0.65557	-0.6139	10	0.59425	D	0.04	-4.4509	10.0279	0.42083	0.0:0.907:0.0:0.093	.	174;207;207;207;207;207	B4DG75;Q6PIY2;Q9H980;Q86WQ9;Q6P5X8;Q9NP87	.;.;.;.;.;DPOLM_HUMAN	Q	207	ENSP00000335141:E207Q;ENSP00000242248:E207Q;ENSP00000379174:E207Q	ENSP00000242248:E207Q	E	-	1	0	POLM	44085718	0.998000	0.40836	0.977000	0.42913	0.882000	0.50991	3.916000	0.56416	1.315000	0.45114	0.655000	0.94253	GAA		0.637	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1		NM_013284		42	67	0	0	0	1	0	42	67		
CCM2	83605	broad.mit.edu	37	7	45115443	45115443	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:45115443G>A	ENST00000258781.6	+	10	1271	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000541586.1_Silent_p.V316V|CCM2_ENST00000544363.1_Silent_p.V283V|CCM2_ENST00000474617.1_Silent_p.V277V|CCM2_ENST00000475551.1_Silent_p.V368V|CCM2_ENST00000381112.3_Silent_p.V395V	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	374	Harmonin homology domain.				blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCATTGGCGTGAAGGATGGCC	0.612																																						uc003tmo.2		NaN																	0					0						c.(1120-1122)GTG>GTA		cerebral cavernous malformation 2 isoform 2							92.0	77.0	82.0					7																	45115443		2203	4300	6503	SO:0001819	synonymous_variant	83605	Familial_Cerebral_Cavernous_Angioma			endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding	g.chr7:45115443G>A	BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"""malcavernin"""	607929	"""chromosome 7 open reading frame 22"""	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.1122G>A	7.37:g.45115443G>A						CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Silent_p.V316V|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Silent_p.V283V|CCM2_uc003tms.2_Silent_p.V395V	p.V374V	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN			10	1268	+			374					A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Silent	SNP	ENST00000258781.6	37	c.1122G>A	CCDS5500.1																																																																																				0.612	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251348.1		NM_031443		54	59	0	0	0	1	0	54	59		
CLIP2	7461	broad.mit.edu	37	7	73790516	73790516	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:73790516G>A	ENST00000395060.1	+	9	1785	c.1785G>A	c.(1783-1785)ctG>ctA	p.L595L	CLIP2_ENST00000361545.5_Silent_p.L560L|CLIP2_ENST00000223398.6_Silent_p.L595L			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	595						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGGCGGGCCTGAAGGACAAGG	0.612																																						uc003uam.2		NaN																	0				skin(3)	3						c.(1783-1785)CTG>CTA		CAP-GLY domain containing linker protein 2							57.0	50.0	52.0					7																	73790516		2203	4300	6503	SO:0001819	synonymous_variant	7461					microtubule associated complex		g.chr7:73790516G>A	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.1785G>A	7.37:g.73790516G>A						CLIP2_uc003uan.2_Silent_p.L560L|CLIP2_uc003uao.2_5'UTR	p.L595L	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN			10	2112	+			595			Potential.		O14527|O43611	Silent	SNP	ENST00000395060.1	37	c.1785G>A	CCDS5569.1																																																																																				0.612	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1		NM_003388		26	26	0	0	0	1	0	26	26		
AKAP9	10142	broad.mit.edu	37	7	91709233	91709233	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:91709233G>A	ENST00000359028.2	+	32	8047	c.7822G>A	c.(7822-7824)Gag>Aag	p.E2608K	AKAP9_ENST00000358100.2_Missense_Mutation_p.E2608K|AKAP9_ENST00000356239.3_Missense_Mutation_p.E2596K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2608	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAGAGAAGATGAGTTGGGGTC	0.318			T	BRAF	papillary thyroid																																	uc003ulg.2		NaN		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(7786-7788)GAG>AAG		A-kinase anchor protein 9 isoform 2							68.0	73.0	71.0					7																	91709233		2202	4299	6501	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91709233G>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.7822G>A	7.37:g.91709233G>A	ENSP00000351922:p.Glu2608Lys					AKAP9_uc003ulf.2_Missense_Mutation_p.E2588K|AKAP9_uc003uli.2_Missense_Mutation_p.E2219K|AKAP9_uc003ulj.2_Missense_Mutation_p.E366K	p.E2596K	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		31	8011	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2608			Potential.|Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.7786G>A		.	.	.	.	.	.	.	.	.	.	G	1.108	-0.659156	0.03454	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03386	4.03;4.03;4.02;3.95	3.61	1.54	0.23209	.	1.305210	0.05779	N	0.608261	T	0.05456	0.0144	L	0.57536	1.79	0.09310	N	1	B;B;B;B	0.09022	0.001;0.001;0.002;0.001	B;B;B;B	0.10450	0.002;0.001;0.005;0.003	T	0.47724	-0.9095	10	0.23302	T	0.38	.	6.6612	0.23014	0.29:0.0:0.71:0.0	.	2600;2608;2596;2588	Q99996-6;Q99996;Q99996-2;Q99996-3	.;AKAP9_HUMAN;.;.	K	2596;2608;2608;2600;442	ENSP00000348573:E2596K;ENSP00000351922:E2608K;ENSP00000350813:E2608K;ENSP00000378042:E442K	ENSP00000348573:E2596K	E	+	1	0	AKAP9	91547169	0.003000	0.15002	0.000000	0.03702	0.027000	0.11550	1.038000	0.30254	0.374000	0.24650	0.591000	0.81541	GAG		0.318	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			NM_005751		50	39	0	0	0	1	0	50	39		
HEPACAM2	253012	broad.mit.edu	37	7	92838029	92838029	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:92838029G>A	ENST00000394468.2	-	4	953	c.876C>T	c.(874-876)atC>atT	p.I292I	HEPACAM2_ENST00000341723.4_Silent_p.I280I|HEPACAM2_ENST00000440868.1_Silent_p.I280I|HEPACAM2_ENST00000453812.2_Silent_p.I315I	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	292	Ig-like C2-type 2.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CATGCTTAATGATATATGTAG	0.463																																						uc003umm.2		NaN																	0				ovary(3)|breast(1)|kidney(1)	5						c.(874-876)ATC>ATT		HEPACAM family member 2 isoform 1							157.0	144.0	149.0					7																	92838029		2203	4300	6503	SO:0001819	synonymous_variant	253012					integral to membrane		g.chr7:92838029G>A	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.876C>T	7.37:g.92838029G>A						HEPACAM2_uc003uml.2_Silent_p.I280I|HEPACAM2_uc010lff.2_Silent_p.I280I|HEPACAM2_uc011khy.1_Silent_p.I315I	p.I292I	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN			4	899	-			292			Ig-like C2-type 2.|Extracellular (Potential).		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Silent	SNP	ENST00000394468.2	37	c.876C>T	CCDS43616.1																																																																																				0.463	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1		NM_198151		37	59	0	0	0	1	0	37	59		
CCDC132	55610	broad.mit.edu	37	7	92921129	92921129	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:92921129G>A	ENST00000305866.5	+	13	1185	c.1057G>A	c.(1057-1059)Gat>Aat	p.D353N	CCDC132_ENST00000544910.1_Missense_Mutation_p.D323N|CCDC132_ENST00000535481.1_Missense_Mutation_p.D73N|CCDC132_ENST00000317751.6_Missense_Mutation_p.D84N|CCDC132_ENST00000541136.1_Missense_Mutation_p.D164N	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	353						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TGACAATGAGGATACTGCTTC	0.368																																						uc003umo.2		NaN																	0					0						c.(1057-1059)GAT>AAT		coiled-coil domain containing 132 isoform a							89.0	76.0	80.0					7																	92921129		1836	4080	5916	SO:0001583	missense	55610							g.chr7:92921129G>A	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1057G>A	7.37:g.92921129G>A	ENSP00000307666:p.Asp353Asn					CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.D323N|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.D73N	p.D353N	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		13	1185	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		353					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.1057G>A	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004464	0.35320	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751	T	0.43688	0.94	5.22	5.22	0.72569	.	0.329961	0.31636	N	0.007311	T	0.29491	0.0735	L	0.29908	0.895	0.25112	N	0.990703	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.09400	-1.0676	10	0.21540	T	0.41	-4.9279	11.437	0.50074	0.0849:0.0:0.9151:0.0	.	73;323;353	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	N	353;323;164;73;84	ENSP00000325582:D84N	ENSP00000307666:D353N	D	+	1	0	CCDC132	92759065	1.000000	0.71417	0.576000	0.28549	0.009000	0.06853	5.408000	0.66368	2.604000	0.88044	0.591000	0.81541	GAT		0.368	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1		NM_017667		33	40	0	0	0	1	0	33	40		
PON2	5445	broad.mit.edu	37	7	95039303	95039303	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:95039303G>A	ENST00000222572.3	-	6	851	c.605C>T	c.(604-606)gCa>gTa	p.A202V	PON2_ENST00000433091.2_Missense_Mutation_p.A190V|PON2_ENST00000536183.1_Missense_Mutation_p.A223V|PON2_ENST00000483292.1_5'UTR			Q15165	PON2_HUMAN	paraoxonase 2	202					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			AACAACATTTGCCCAGTGTAA	0.388																																					GBM(42;803 823 13649 23368 31463)	uc003unv.2		NaN																	0					0						c.(604-606)GCA>GTA		paraoxonase 2 isoform 1							153.0	148.0	150.0					7																	95039303		2203	4300	6503	SO:0001583	missense	5445				aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	g.chr7:95039303G>A	M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"""Paraoxonases"""	9205	protein-coding gene	gene with protein product	"""paraoxonase nirs"", ""arylesterase 2"""	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.605C>T	7.37:g.95039303G>A	ENSP00000222572:p.Ala202Val					PON2_uc003unu.2_Missense_Mutation_p.A190V|PON2_uc010lfk.2_RNA|PON2_uc003unw.2_Missense_Mutation_p.A115V	p.A202V	NM_000305	NP_000296	Q15165	PON2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		6	726	-	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		202					A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Missense_Mutation	SNP	ENST00000222572.3	37	c.605C>T	CCDS5640.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424025	0.62733	.	.	ENSG00000105854	ENST00000536183;ENST00000355659;ENST00000433091;ENST00000222572	T;T;T	0.46063	0.88;0.88;0.88	4.97	4.97	0.65823	Six-bladed beta-propeller, TolB-like (1);	0.684939	0.15178	N	0.276270	T	0.41534	0.1163	L	0.34521	1.04	0.36351	D	0.860106	B;B	0.30973	0.302;0.302	B;B	0.36186	0.219;0.219	T	0.51647	-0.8679	10	0.62326	D	0.03	-10.7473	18.8005	0.92015	0.0:0.0:1.0:0.0	.	202;202	A4D1H7;Q15165	.;PON2_HUMAN	V	223;200;190;202	ENSP00000440282:A223V;ENSP00000404622:A190V;ENSP00000222572:A202V	ENSP00000222572:A202V	A	-	2	0	PON2	94877239	1.000000	0.71417	0.997000	0.53966	0.859000	0.49053	4.600000	0.61083	2.754000	0.94517	0.650000	0.86243	GCA		0.388	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1		NM_000305		66	94	0	0	0	1	0	66	94		
SMURF1	57154	broad.mit.edu	37	7	98634777	98634777	+	Silent	SNP	G	G	A	rs148999069		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:98634777G>A	ENST00000361125.1	-	16	2119	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	AC004893.11_ENST00000360902.1_RNA|SMURF1_ENST00000361368.2_Silent_p.I574I|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	600	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			ACTGGGCTTCGATTCCTCTCA	0.468											OREG0018188	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0008	0.0	5008	,	,		19194	0.0		0.0	False		,,,				2504	0.0					uc003upu.1		NaN																	0				skin(2)|ovary(1)|lung(1)	4						c.(1798-1800)ATC>ATT		Smad ubiquitination regulatory factor 1 isoform		G	,,	13,4393	20.2+/-43.8	0,13,2190	122.0	114.0	117.0		1722,1800,1722	-7.7	0.4	7	dbSNP_134	117	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SMURF1	NM_001199847.1,NM_020429.2,NM_181349.2	,,	0,13,6490	AA,AG,GG		0.0,0.2951,0.1	,,	574/729,600/758,574/732	98634777	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	57154				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	g.chr7:98634777G>A	AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1800C>T	7.37:g.98634777G>A			OREG0018188	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1337	SMURF1_uc003upv.1_Silent_p.I574I|SMURF1_uc003upt.2_Silent_p.I574I	p.I600I	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)		16	2120	-	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		600			HECT.		A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Silent	SNP	ENST00000361125.1	37	c.1800C>T	CCDS34690.1																																																																																				0.468	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2		NM_020429		52	79	0	0	0	1	0	52	79		
PUS7	54517	broad.mit.edu	37	7	105111175	105111175	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:105111175G>C	ENST00000356362.2	-	11	1572	c.1358C>G	c.(1357-1359)tCa>tGa	p.S453*	PUS7_ENST00000469408.1_Nonsense_Mutation_p.S453*	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	453	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TCCATATTTTGAAAGTCCTCG	0.423																																					Colon(138;2387 3051 17860)	uc003vcx.2		NaN																	0				breast(1)	1						c.(1357-1359)TCA>TGA		pseudouridylate synthase 7 homolog							157.0	151.0	153.0					7																	105111175		2203	4300	6503	SO:0001587	stop_gained	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105111175G>C	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1358C>G	7.37:g.105111175G>C	ENSP00000348722:p.Ser453*					PUS7_uc010lji.2_Nonsense_Mutation_p.S459*|PUS7_uc003vcy.2_Nonsense_Mutation_p.S453*|PUS7_uc003vcz.1_Nonsense_Mutation_p.S453*	p.S453*	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN			11	1577	-			453			TRUD.		Q75MG4|Q9NX19	Nonsense_Mutation	SNP	ENST00000356362.2	37	c.1358C>G	CCDS34725.1	.	.	.	.	.	.	.	.	.	.	G	40	8.137517	0.98672	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	.	.	.	5.94	5.94	0.96194	.	0.119762	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-15.3122	12.5533	0.56240	0.0832:0.0:0.9168:0.0	.	.	.	.	X	453	.	ENSP00000348722:S453X	S	-	2	0	PUS7	104898411	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.371000	0.79600	2.826000	0.97356	0.561000	0.74099	TCA		0.423	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1		NM_019042		92	109	0	0	0	1	0	92	109		
LAMB4	22798	broad.mit.edu	37	7	107689947	107689947	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:107689947G>A	ENST00000388781.3	-	27	4029	c.3946C>T	c.(3946-3948)Cac>Tac	p.H1316Y	LAMB4_ENST00000388780.3_Missense_Mutation_p.H1316Y|LAMB4_ENST00000205386.4_Missense_Mutation_p.H1316Y	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1316	Domain II.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GATGATATGTGATAATATTTC	0.284																																						uc010ljo.1		NaN																	0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(3946-3948)CAC>TAC		laminin, beta 4 precursor							140.0	123.0	129.0					7																	107689947		2202	4298	6500	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107689947G>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3946C>T	7.37:g.107689947G>A	ENSP00000373433:p.His1316Tyr					LAMB4_uc003vey.2_Missense_Mutation_p.H1316Y|LAMB4_uc010ljp.1_Missense_Mutation_p.H285Y	p.H1316Y	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			27	4030	-			1316			Domain II.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.3946C>T	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491934	0.26774	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.31247	1.5;1.5;1.92;1.52	4.97	4.97	0.65823	.	0.569839	0.15597	N	0.254104	T	0.13798	0.0334	N	0.08118	0	0.80722	D	1	B;P	0.34909	0.01;0.475	B;B	0.25759	0.001;0.063	T	0.07195	-1.0785	10	0.41790	T	0.15	.	8.7575	0.34654	0.0827:0.1653:0.752:0.0	.	1316;1316	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	Y	1316;1316;342;1316	ENSP00000205386:H1316Y;ENSP00000373433:H1316Y;ENSP00000416562:H342Y;ENSP00000373432:H1316Y	ENSP00000205386:H1316Y	H	-	1	0	LAMB4	107477183	0.995000	0.38212	0.995000	0.50966	0.997000	0.91878	1.309000	0.33539	2.582000	0.87167	0.655000	0.94253	CAC		0.284	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1		XM_209857		27	47	0	0	0	1	0	27	47		
ZNF800	168850	broad.mit.edu	37	7	127014125	127014125	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:127014125G>C	ENST00000393313.1	-	5	1856	c.1265C>G	c.(1264-1266)tCc>tGc	p.S422C	ZNF800_ENST00000393312.1_Missense_Mutation_p.S422C|ZNF800_ENST00000265827.3_Missense_Mutation_p.S422C|ZNF800_ENST00000485577.1_5'Flank			Q2TB10	ZN800_HUMAN	zinc finger protein 800	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						ATGGGTAATGGAAGGGGGTGA	0.353																																						uc003vlx.1		NaN																	0				ovary(1)	1						c.(1264-1266)TCC>TGC		zinc finger protein 800							82.0	88.0	86.0					7																	127014125		2203	4298	6501	SO:0001583	missense	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127014125G>C	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1265C>G	7.37:g.127014125G>C	ENSP00000376989:p.Ser422Cys					ZNF800_uc003vlw.1_Missense_Mutation_p.S325C|ZNF800_uc003vly.1_Missense_Mutation_p.S422C|ZNF800_uc010lla.2_Missense_Mutation_p.S422C	p.S422C	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN			5	1528	-			422					Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	c.1265C>G	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	G	9.791	1.177902	0.21787	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.18016	2.24;2.24;2.24	5.83	3.97	0.46021	.	0.604415	0.16726	N	0.202079	T	0.08492	0.0211	N	0.08118	0	0.32641	N	0.520653	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17776	-1.0358	8	.	.	.	0.0149	10.8033	0.46502	0.071:0.1309:0.7981:0.0	.	325;422	B7Z4V7;Q2TB10	.;ZN800_HUMAN	C	422	ENSP00000376989:S422C;ENSP00000265827:S422C;ENSP00000376988:S422C	.	S	-	2	0	ZNF800	126801361	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.998000	0.63927	1.469000	0.48083	0.585000	0.79938	TCC		0.353	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1		NM_176814		55	84	0	0	0	1	0	55	84		
KIAA1549	57670	broad.mit.edu	37	7	138604031	138604031	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:138604031G>C	ENST00000422774.1	-	2	389	c.341C>G	c.(340-342)tCt>tGt	p.S114C	KIAA1549_ENST00000242365.4_Missense_Mutation_p.S64C|KIAA1549_ENST00000440172.1_Missense_Mutation_p.S114C			Q9HCM3	K1549_HUMAN	KIAA1549	114						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGTAGTGGCAGACGGCGGGGC	0.517			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1		NaN		Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	0				central_nervous_system(229)|pancreas(1)	230						c.(340-342)TCT>TGT		hypothetical protein LOC57670 isoform 1							115.0	114.0	114.0					7																	138604031		1967	4173	6140	SO:0001583	missense	57670					integral to membrane		g.chr7:138604031G>C		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.341C>G	7.37:g.138604031G>C	ENSP00000416040:p.Ser114Cys					KIAA1549_uc003vuk.3_Missense_Mutation_p.S64C|KIAA1549_uc011kqj.1_Missense_Mutation_p.S114C	p.S114C	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			2	390	-			114					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.341C>G	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415949	0.25552	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.34472	1.36;1.36;1.36	4.66	3.78	0.43462	.	0.531595	0.15874	N	0.240384	T	0.34948	0.0915	L	0.29908	0.895	0.09310	N	1	D;D	0.61697	0.983;0.99	P;P	0.53313	0.533;0.723	T	0.11036	-1.0604	10	0.72032	D	0.01	.	6.5124	0.22228	0.2212:0.0:0.7788:0.0	.	114;114	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	C	114;64;114	ENSP00000406661:S114C;ENSP00000242365:S64C;ENSP00000416040:S114C	ENSP00000242365:S64C	S	-	2	0	KIAA1549	138254571	0.032000	0.19561	0.003000	0.11579	0.086000	0.17979	2.166000	0.42406	1.194000	0.43101	0.561000	0.74099	TCT		0.517	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1				58	55	0	0	0	1	0	58	55		
KLRG2	346689	broad.mit.edu	37	7	139168067	139168067	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:139168067C>G	ENST00000340940.4	-	1	391	c.322G>C	c.(322-324)Gag>Cag	p.E108Q	KLRG2_ENST00000393039.2_Missense_Mutation_p.E108Q	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	108	Pro-rich.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					CCGGGCGCCTCGCCATTCCGG	0.771																																						uc003vvb.2		NaN																	0				central_nervous_system(1)	1						c.(322-324)GAG>CAG		killer cell lectin-like receptor subfamily G,							3.0	4.0	4.0					7																	139168067		1415	3149	4564	SO:0001583	missense	346689					integral to membrane	sugar binding	g.chr7:139168067C>G	AK126174	CCDS5854.1	7q34	2011-08-30			ENSG00000188883	ENSG00000188883		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	24778	protein-coding gene	gene with protein product	"""C-type lectin domain family 15, member B"""						Standard	XM_005250311		Approved	FLJ44186, CLEC15B	uc003vvb.3	A4D1S0	OTTHUMG00000157705	ENST00000340940.4:c.322G>C	7.37:g.139168067C>G	ENSP00000339356:p.Glu108Gln					KLRG2_uc010lnc.2_Missense_Mutation_p.E108Q	p.E108Q	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN			1	391	-	Melanoma(164;0.233)		108			Pro-rich.		Q2NL79|Q6ZTV6	Missense_Mutation	SNP	ENST00000340940.4	37	c.322G>C	CCDS5854.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648627	0.29336	.	.	ENSG00000188883	ENST00000340940;ENST00000393039	T;T	0.60797	3.26;0.16	3.44	2.55	0.30701	.	0.308878	0.18177	U	0.149274	T	0.44582	0.1300	L	0.34521	1.04	0.19300	N	0.99997	B;B	0.24368	0.102;0.043	B;B	0.24974	0.057;0.035	T	0.43393	-0.9394	10	0.87932	D	0	-12.4392	8.6202	0.33855	0.0:0.7636:0.2364:0.0	.	108;108	A4D1S0-2;A4D1S0	.;KLRG2_HUMAN	Q	108	ENSP00000339356:E108Q;ENSP00000376759:E108Q	ENSP00000339356:E108Q	E	-	1	0	KLRG2	138818607	0.019000	0.18553	0.124000	0.21820	0.038000	0.13279	0.980000	0.29513	0.638000	0.30545	-0.336000	0.08194	GAG		0.771	KLRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349433.1		NM_198508		6	6	0	0	0	1	0	6	6		
DENND2A	27147	broad.mit.edu	37	7	140258011	140258011	+	Splice_Site	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:140258011C>T	ENST00000275884.6	-	10	2308	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K	DENND2A_ENST00000496613.1_Splice_Site_p.E631K|DENND2A_ENST00000492720.1_Splice_Site_p.E631K|DENND2A_ENST00000537639.1_Splice_Site_p.E631K			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	631	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GAGAATGTTTCACTGTGGTTG	0.473																																						uc010lnj.2		NaN																	0				ovary(3)|breast(1)	4						c.(1891-1893)GAA>AAA		DENN/MADD domain containing 2A							66.0	65.0	66.0					7																	140258011		1995	4182	6177	SO:0001630	splice_region_variant	27147							g.chr7:140258011C>T	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1890-1G>A	7.37:g.140258011C>T						DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.E631K|DENND2A_uc003vvw.2_Missense_Mutation_p.E631K|DENND2A_uc003vvx.2_Missense_Mutation_p.E631K	p.E631K	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			9	2036	-	Melanoma(164;0.00956)		631			UDENN.		C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.1891G>A	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	C	34	5.327104	0.95708	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.72	5.72	0.89469	uDENN (3);	0.000000	0.85682	D	0.000000	T	0.63177	0.2489	L	0.56199	1.76	0.80722	D	1	D;D	0.89917	1.0;0.988	D;D	0.91635	0.999;0.98	T	0.63220	-0.6686	10	0.72032	D	0.01	-18.5223	19.877	0.96880	0.0:1.0:0.0:0.0	.	631;631	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	K	631	ENSP00000275884:E631K;ENSP00000442245:E631K;ENSP00000419654:E631K;ENSP00000419464:E631K	ENSP00000275884:E631K	E	-	1	0	DENND2A	139904480	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.487000	0.81328	2.709000	0.92574	0.561000	0.74099	GAA		0.473	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1		NM_015689	Missense_Mutation	29	32	0	0	0	1	0	29	32		
C7orf33	202865	broad.mit.edu	37	7	148288196	148288196	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:148288196T>A	ENST00000307003.2	+	1	540	c.179T>A	c.(178-180)tTg>tAg	p.L60*		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	60										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CAATTTAACTTGTCATATGCC	0.493																																						uc003wew.2		NaN																	0				central_nervous_system(1)	1						c.(178-180)TTG>TAG		hypothetical protein LOC202865							95.0	80.0	85.0					7																	148288196		2203	4300	6503	SO:0001587	stop_gained	202865							g.chr7:148288196T>A	BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.179T>A	7.37:g.148288196T>A	ENSP00000304071:p.Leu60*						p.L60*	NM_145304	NP_660347	Q8WU49	CG033_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		1	540	+	Melanoma(164;0.15)		60						Nonsense_Mutation	SNP	ENST00000307003.2	37	c.179T>A	CCDS5890.1	.	.	.	.	.	.	.	.	.	.	T	35	5.495895	0.96355	.	.	ENSG00000170279	ENST00000307003	.	.	.	2.93	-1.31	0.09230	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.325	0.00309	0.2195:0.1492:0.2253:0.4061	.	.	.	.	X	60	.	ENSP00000304071:L60X	L	+	2	0	C7orf33	147919129	0.002000	0.14202	0.000000	0.03702	0.103000	0.19146	0.149000	0.16243	-0.237000	0.09739	0.455000	0.32223	TTG		0.493	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1		NM_145304		61	87	0	0	0	1	0	61	87		
ZNF777	27153	broad.mit.edu	37	7	149153043	149153043	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:149153043G>A	ENST00000247930.4	-	2	394	c.71C>T	c.(70-72)cCt>cTt	p.P24L		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	24					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAGTCCAGCAGGGGCCTGACG	0.547																																						uc003wfv.2		NaN																	0				skin(1)	1						c.(70-72)CCT>CTT		zinc finger protein 777							64.0	68.0	67.0					7																	149153043		1907	4116	6023	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149153043G>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.71C>T	7.37:g.149153043G>A	ENSP00000247930:p.Pro24Leu						p.P24L	NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	234	-	Melanoma(164;0.165)		24					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.71C>T	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112971	0.37242	.	.	ENSG00000196453	ENST00000247930	T	0.05447	3.44	4.29	4.29	0.51040	.	0.000000	0.45606	D	0.000344	T	0.06142	0.0159	L	0.27053	0.805	0.23082	N	0.998329	B	0.22414	0.069	B	0.24848	0.056	T	0.27739	-1.0065	10	0.87932	D	0	-4.8921	12.4482	0.55664	0.0:0.0:1.0:0.0	.	24	Q9ULD5-2	.	L	24	ENSP00000247930:P24L	ENSP00000247930:P24L	P	-	2	0	ZNF777	148783976	0.952000	0.32445	0.194000	0.23346	0.969000	0.65631	2.972000	0.49256	2.386000	0.81285	0.563000	0.77884	CCT		0.547	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1		NM_015694		39	54	0	0	0	1	0	39	54		
KRBA1	84626	broad.mit.edu	37	7	149419541	149419541	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:149419541G>A	ENST00000485033.2	+	5	495	c.495G>A	c.(493-495)agG>agA	p.R165R	KRBA1_ENST00000255992.10_Silent_p.R165R|KRBA1_ENST00000319551.8_Silent_p.R165R|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	165										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCTACAAGGAAGGAAGGCC	0.607																																						uc003wfz.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(493-495)AGG>AGA		KRAB A domain containing 1							25.0	28.0	27.0					7																	149419541		1850	4088	5938	SO:0001819	synonymous_variant	84626							g.chr7:149419541G>A	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.495G>A	7.37:g.149419541G>A						KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_5'Flank	p.R165R	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		6	894	+	Melanoma(164;0.165)|Ovarian(565;0.177)		165					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Silent	SNP	ENST00000485033.2	37	c.495G>A																																																																																					0.607	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3		NM_032534		3	9	0	0	0	1	0	3	9		
NOS3	4846	broad.mit.edu	37	7	150699303	150699303	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:150699303G>A	ENST00000484524.1	+	13	1663	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K	NOS3_ENST00000467517.1_Missense_Mutation_p.E555K|NOS3_ENST00000461406.1_Missense_Mutation_p.E349K|NOS3_ENST00000297494.3_Missense_Mutation_p.E555K	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGTATGGATGAGTATGACGT	0.602																																						uc003wif.2		NaN																	0				central_nervous_system(5)|large_intestine(2)|skin(1)	8						c.(1663-1665)GAG>AAG		nitric oxide synthase 3 isoform 1	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						62.0	51.0	55.0					7																	150699303		2200	4298	6498	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150699303G>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1663G>A	7.37:g.150699303G>A	ENSP00000420215:p.Glu555Lys					NOS3_uc011kuy.1_Missense_Mutation_p.E349K|NOS3_uc011kuz.1_Missense_Mutation_p.E555K|NOS3_uc011kva.1_Missense_Mutation_p.E555K|NOS3_uc011kvb.1_Missense_Mutation_p.E555K	p.E555K	NM_000603	NP_000594	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	14	1959	+	all_neural(206;0.219)		555			Flavodoxin-like.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.1663G>A	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116897	0.77323	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	4.5	4.5	0.54988	Flavodoxin/nitric oxide synthase (2);	0.095453	0.44285	D	0.000474	T	0.64549	0.2608	M	0.70275	2.135	0.42359	D	0.992403	P;P;B;B;B	0.44281	0.831;0.687;0.215;0.17;0.385	P;P;B;B;B	0.50537	0.577;0.643;0.3;0.34;0.411	T	0.66874	-0.5813	10	0.49607	T	0.09	-23.4376	10.865	0.46849	0.0:0.191:0.809:0.0	.	555;555;555;349;555	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	K	555;349;555;555	ENSP00000297494:E555K;ENSP00000417143:E349K;ENSP00000420215:E555K;ENSP00000420551:E555K	ENSP00000297494:E555K	E	+	1	0	NOS3	150330236	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.559000	0.82265	2.487000	0.83934	0.561000	0.74099	GAG		0.602	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1		NM_000603		6	12	0	0	0	1	0	6	12		
KMT2C	58508	broad.mit.edu	37	7	151877000	151877000	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:151877000C>G	ENST00000262189.6	-	37	7579	c.7361G>C	c.(7360-7362)aGa>aCa	p.R2454T	KMT2C_ENST00000355193.2_Missense_Mutation_p.R2454T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2454	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AACAGCATATCTAGGTCCTAA	0.478																																						uc003wla.2		NaN								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(7360-7362)AGA>ACA		myeloid/lymphoid or mixed-lineage leukemia 3							140.0	128.0	132.0					7																	151877000		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151877000C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7361G>C	7.37:g.151877000C>G	ENSP00000262189:p.Arg2454Thr					MLL3_uc003wkz.2_Missense_Mutation_p.R1515T|MLL3_uc003wky.2_5'Flank	p.R2454T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	37	7580	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2454			Pro-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.7361G>C	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056711	0.76074	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84223	-1.79;-1.82	5.5	5.5	0.81552	.	0.000000	0.50627	D	0.000109	D	0.91637	0.7357	M	0.65975	2.015	0.80722	D	1	D;D	0.76494	0.999;0.991	D;P	0.78314	0.991;0.801	D	0.90490	0.4466	10	0.40728	T	0.16	.	19.3908	0.94581	0.0:1.0:0.0:0.0	.	2454;1515	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	T	2454	ENSP00000262189:R2454T;ENSP00000347325:R2454T	ENSP00000262189:R2454T	R	-	2	0	MLL3	151507933	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.773000	0.75006	2.578000	0.87016	0.650000	0.86243	AGA		0.478	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				86	99	0	0	0	1	0	86	99		
KMT2C	58508	broad.mit.edu	37	7	151878836	151878836	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:151878836C>G	ENST00000262189.6	-	36	6327	c.6109G>C	c.(6109-6111)Gat>Cat	p.D2037H	KMT2C_ENST00000355193.2_Missense_Mutation_p.D2037H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2037	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGACCACTATCAAGAGGTGCA	0.468																																						uc003wla.2		NaN								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(6109-6111)GAT>CAT		myeloid/lymphoid or mixed-lineage leukemia 3							106.0	104.0	105.0					7																	151878836		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151878836C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6109G>C	7.37:g.151878836C>G	ENSP00000262189:p.Asp2037His					MLL3_uc003wkz.2_Missense_Mutation_p.D1098H	p.D2037H	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	36	6328	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2037			Pro-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6109G>C	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334464	0.41297	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.42900	0.96;0.96	5.67	5.67	0.87782	.	0.000000	0.41294	U	0.000903	T	0.54615	0.1869	L	0.29908	0.895	0.80722	D	1	P;D	0.89917	0.8;1.0	B;D	0.69479	0.417;0.964	T	0.54043	-0.8352	10	0.52906	T	0.07	.	19.7621	0.96323	0.0:1.0:0.0:0.0	.	2037;1098	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	H	2037	ENSP00000262189:D2037H;ENSP00000347325:D2037H	ENSP00000262189:D2037H	D	-	1	0	MLL3	151509769	1.000000	0.71417	0.027000	0.17364	0.992000	0.81027	5.667000	0.68067	2.680000	0.91292	0.563000	0.77884	GAT		0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				53	74	0	0	0	1	0	53	74		
KMT2C	58508	broad.mit.edu	37	7	151945114	151945114	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr7:151945114G>A	ENST00000262189.6	-	14	2623	c.2405C>T	c.(2404-2406)tCa>tTa	p.S802L	KMT2C_ENST00000355193.2_Missense_Mutation_p.S802L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	802					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACTAAGAGCTGAAGGGTAATT	0.423																																						uc003wla.2		NaN								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2404-2406)TCA>TTA		myeloid/lymphoid or mixed-lineage leukemia 3							512.0	460.0	477.0					7																	151945114		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151945114G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2405C>T	7.37:g.151945114G>A	ENSP00000262189:p.Ser802Leu						p.S802L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	14	2624	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	802					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2405C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002518	0.54254	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84146	-1.81;-1.81	5.57	5.57	0.84162	.	0.407180	0.17619	N	0.167796	T	0.80071	0.4556	L	0.27053	0.805	0.80722	D	1	P	0.36282	0.546	B	0.37943	0.261	T	0.78740	-0.2086	10	0.37606	T	0.19	.	17.7297	0.88374	0.0:0.0:1.0:0.0	.	802	Q8NEZ4	MLL3_HUMAN	L	802	ENSP00000262189:S802L;ENSP00000347325:S802L	ENSP00000262189:S802L	S	-	2	0	MLL3	151576047	0.990000	0.36364	0.006000	0.13384	0.055000	0.15305	7.144000	0.77357	2.601000	0.87937	0.650000	0.86243	TCA		0.423	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				37	740	0	0	0	1	0	37	740		
PCM1	5108	broad.mit.edu	37	8	17813081	17813081	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:17813081C>G	ENST00000519253.1	+	10	1642	c.1391C>G	c.(1390-1392)tCt>tGt	p.S464C	PCM1_ENST00000325083.8_Missense_Mutation_p.S464C|PCM1_ENST00000524226.1_Missense_Mutation_p.S464C|PCM1_ENST00000518537.1_Missense_Mutation_p.S503C			Q15154	PCM1_HUMAN	pericentriolar material 1	464					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		CTCACATCATCTGTTCCTTAT	0.433			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	uc003wyi.3		NaN		Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	RET|JAK2		papillary thyroid|CML|MPD	PCM1/JAK2(30)	0				haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36						c.(1390-1392)TCT>TGT		pericentriolar material 1							101.0	95.0	97.0					8																	17813081		1925	4131	6056	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17813081C>G		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.1391C>G	8.37:g.17813081C>G	ENSP00000431099:p.Ser464Cys					PCM1_uc011kyh.1_Missense_Mutation_p.S464C|PCM1_uc003wyj.3_Missense_Mutation_p.S464C|PCM1_uc003wyh.2_Missense_Mutation_p.S503C|PCM1_uc010lta.1_Missense_Mutation_p.S503C	p.S464C	NM_006197	NP_006188	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	10	1813	+			464					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.1391C>G		.	.	.	.	.	.	.	.	.	.	C	16.89	3.248128	0.59103	.	.	ENSG00000078674	ENST00000325083;ENST00000325126;ENST00000517730;ENST00000518537;ENST00000519253;ENST00000524226	T;T;T;T;T	0.27402	3.48;2.57;1.67;3.48;3.24	4.88	4.88	0.63580	.	0.155013	0.64402	D	0.000011	T	0.45975	0.1369	L	0.44542	1.39	0.80722	D	1	D;D;P;D	0.89917	0.999;1.0;0.8;0.999	D;D;B;D	0.83275	0.977;0.996;0.421;0.977	T	0.32455	-0.9906	10	0.56958	D	0.05	-9.1935	12.348	0.55132	0.0:0.9207:0.0:0.0793	.	464;503;464;464	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	C	464;503;503;503;464;464	ENSP00000327077:S464C;ENSP00000428131:S503C;ENSP00000428123:S503C;ENSP00000431099:S464C;ENSP00000430521:S464C	ENSP00000327077:S464C	S	+	2	0	PCM1	17857361	1.000000	0.71417	0.995000	0.50966	0.597000	0.36814	4.000000	0.57039	2.645000	0.89757	0.655000	0.94253	TCT		0.433	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1		NM_006197		23	33	0	0	0	1	0	23	33		
CHD7	55636	broad.mit.edu	37	8	61654025	61654025	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:61654025G>A	ENST00000423902.2	+	2	513	c.34G>A	c.(34-36)Gag>Aag	p.E12K	CHD7_ENST00000525508.1_Missense_Mutation_p.E12K|CHD7_ENST00000524602.1_Missense_Mutation_p.E12K	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	12					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCTTTTTGGCGAGGATGGGAA	0.488																																						uc003xue.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(34-36)GAG>AAG		chromodomain helicase DNA binding protein 7							119.0	113.0	115.0					8																	61654025		1933	4137	6070	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61654025G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.34G>A	8.37:g.61654025G>A	ENSP00000392028:p.Glu12Lys						p.E12K	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	511	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	12					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.34G>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400037	0.62177	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000526846;ENST00000524602;ENST00000525508	T;T;T;T	0.63580	-0.05;0.62;-0.05;-0.05	5.46	5.46	0.80206	.	0.000000	0.40385	N	0.001111	T	0.47893	0.1470	L	0.29908	0.895	0.45261	D	0.99826	D	0.53619	0.961	B	0.33799	0.17	T	0.59075	-0.7522	10	0.72032	D	0.01	-20.5711	17.472	0.87648	0.0:0.0:1.0:0.0	.	12	Q9P2D1	CHD7_HUMAN	K	12	ENSP00000392028:E12K;ENSP00000436492:E12K;ENSP00000437061:E12K;ENSP00000436027:E12K	ENSP00000307304:E12K	E	+	1	0	CHD7	61816579	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.796000	0.85898	2.581000	0.87130	0.585000	0.79938	GAG		0.488	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2		XM_098762		13	9	0	0	0	1	0	13	9		
KCNB2	9312	broad.mit.edu	37	8	73848265	73848265	+	Silent	SNP	A	A	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:73848265A>G	ENST00000523207.1	+	3	1263	c.675A>G	c.(673-675)ggA>ggG	p.G225G		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	225					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	ACGAATTTGGACAACTCAATG	0.468																																						uc003xzb.2		NaN																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(673-675)GGA>GGG		potassium voltage-gated channel, Shab-related							190.0	168.0	176.0					8																	73848265		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73848265A>G	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.675A>G	8.37:g.73848265A>G							p.G225G	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	1263	+	Breast(64;0.137)		225					Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.675A>G	CCDS6209.1																																																																																				0.468	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1		NM_004770		60	73	0	0	0	1	0	60	73		
RALYL	138046	broad.mit.edu	37	8	85785626	85785626	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:85785626G>C	ENST00000521268.1	+	7	1784	c.679G>C	c.(679-681)Gag>Cag	p.E227Q	RALYL_ENST00000521376.1_Missense_Mutation_p.E138Q|RALYL_ENST00000518566.1_Missense_Mutation_p.E216Q|RALYL_ENST00000521695.1_Missense_Mutation_p.E227Q|RALYL_ENST00000522455.1_Missense_Mutation_p.E227Q|RALYL_ENST00000517638.1_Missense_Mutation_p.E240Q|RALYL_ENST00000523850.1_Missense_Mutation_p.E154Q	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	227							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GCAGAAGGCGGAGGCAGGTAA	0.463																																						uc003ycq.3		NaN																	0				ovary(1)	1						c.(679-681)GAG>CAG		RALY RNA binding protein-like isoform 2							41.0	41.0	41.0					8																	85785626		1956	4131	6087	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85785626G>C		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.679G>C	8.37:g.85785626G>C	ENSP00000430367:p.Glu227Gln					RALYL_uc003ycr.3_Missense_Mutation_p.E227Q|RALYL_uc003ycs.3_Missense_Mutation_p.E227Q|RALYL_uc010lzy.2_Missense_Mutation_p.E216Q|RALYL_uc003yct.3_Missense_Mutation_p.E240Q|RALYL_uc003ycu.3_Missense_Mutation_p.E154Q|RALYL_uc003ycv.3_Missense_Mutation_p.E139Q	p.E227Q	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN			8	1095	+			227			Potential.		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.679G>C	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.731063	0.48939	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.18174	2.96;2.96;2.96;2.92;2.95;2.51;2.23	6.16	5.28	0.74379	.	0.337603	0.30704	N	0.009051	T	0.11965	0.0291	N	0.25485	0.75	0.37850	D	0.929357	B;P;B;B;B	0.38978	0.001;0.652;0.005;0.005;0.001	B;B;B;B;B	0.36464	0.001;0.225;0.003;0.004;0.001	T	0.03296	-1.1051	10	0.02654	T	1	-11.9762	17.4781	0.87666	0.0:0.1241:0.8759:0.0	.	216;227;154;240;227	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	Q	227;227;227;216;240;154;138	ENSP00000430394:E227Q;ENSP00000428667:E227Q;ENSP00000430367:E227Q;ENSP00000430065:E216Q;ENSP00000430128:E240Q;ENSP00000428807:E154Q;ENSP00000428310:E138Q	ENSP00000430128:E240Q	E	+	1	0	RALYL	85948181	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	6.357000	0.73051	1.583000	0.49898	0.650000	0.86243	GAG		0.463	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1				4	4	0	0	0	1	0	4	4		
ESRP1	54845	broad.mit.edu	37	8	95680397	95680397	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:95680397G>C	ENST00000433389.2	+	10	1342	c.1152G>C	c.(1150-1152)caG>caC	p.Q384H	ESRP1_ENST00000358397.5_Missense_Mutation_p.Q384H|ESRP1_ENST00000423620.2_Missense_Mutation_p.Q384H|ESRP1_ENST00000454170.2_Missense_Mutation_p.Q384H	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	384	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AATATGCACAGAATGCGTTGA	0.458																																						uc003ygq.3		NaN																ESRP1/RAF1(4)	0				prostate(4)	4						c.(1150-1152)CAG>CAC		RNA binding motif protein 35A isoform 1							95.0	96.0	96.0					8																	95680397		1974	4168	6142	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95680397G>C	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1152G>C	8.37:g.95680397G>C	ENSP00000405738:p.Gln384His					ESRP1_uc003ygr.3_Missense_Mutation_p.Q384H|ESRP1_uc003ygs.3_Missense_Mutation_p.Q384H|ESRP1_uc003ygt.3_Missense_Mutation_p.Q384H|ESRP1_uc003ygu.3_Missense_Mutation_p.Q384H|ESRP1_uc003ygv.2_Missense_Mutation_p.Q224H|ESRP1_uc003ygw.2_Missense_Mutation_p.Q224H	p.Q384H	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN			10	1335	+			384			RRM 2.		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.1152G>C	CCDS47897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.11|16.11	3.031334|3.031334	0.54790|0.54790	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000519505|ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610	.|T;T;T;T;T	.|0.09445	.|2.98;2.98;2.98;2.98;2.98	5.58|5.58	2.79|2.79	0.32731|0.32731	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.|0.052553	.|0.85682	.|D	.|0.000000	T|T	0.30603|0.30603	0.0770|0.0770	M|M	0.76838|0.76838	2.35|2.35	0.53688|0.53688	D|D	0.999975|0.999975	.|D;D;D;D;D;D	.|0.89917	.|0.999;0.999;0.987;0.978;0.996;1.0	.|D;D;D;D;D;D	.|0.79784	.|0.993;0.98;0.926;0.956;0.95;0.992	T|T	0.08229|0.08229	-1.0732|-1.0732	5|10	.|0.62326	.|D	.|0.03	-9.143|-9.143	11.3754|11.3754	0.49724|0.49724	0.2417:0.0:0.7583:0.0|0.2417:0.0:0.7583:0.0	.|.	.|384;384;384;384;384;384	.|D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.|.;.;.;.;.;ESRP1_HUMAN	Q|H	250|384;384;384;384;243	.|ENSP00000407349:Q384H;ENSP00000405738:Q384H;ENSP00000351168:Q384H;ENSP00000402766:Q384H;ENSP00000429125:Q243H	.|ENSP00000351168:Q384H	E|Q	+|+	1|3	0|2	ESRP1|ESRP1	95749573|95749573	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.616000|0.616000	0.37450|0.37450	1.612000|1.612000	0.36889|0.36889	1.355000|1.355000	0.45865|0.45865	0.563000|0.563000	0.77884|0.77884	GAA|CAG		0.458	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1		NM_017697		47	50	0	0	0	1	0	47	50		
UBR5	51366	broad.mit.edu	37	8	103323975	103323975	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:103323975G>A	ENST00000520539.1	-	19	3012	c.2406C>T	c.(2404-2406)ttC>ttT	p.F802F	UBR5_ENST00000521922.1_Silent_p.F796F|UBR5_ENST00000220959.4_Silent_p.F802F	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	802					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTCCAGCAGTGAAAATGGCTA	0.413																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NaN																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(2404-2406)TTC>TTT		ubiquitin protein ligase E3 component n-recognin							134.0	136.0	135.0					8																	103323975		2203	4300	6503	SO:0001819	synonymous_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103323975G>A	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.2406C>T	8.37:g.103323975G>A						UBR5_uc003yks.1_Silent_p.F802F	p.F802F	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		19	2439	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		802					B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.2406C>T	CCDS34933.1																																																																																				0.413	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2		NM_015902		105	90	0	0	0	1	0	105	90		
PKHD1L1	93035	broad.mit.edu	37	8	110492333	110492333	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:110492333G>C	ENST00000378402.5	+	55	9396	c.9292G>C	c.(9292-9294)Gaa>Caa	p.E3098Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3098	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				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)			TTCTTACAGAGAAGTTGTTTT	0.353										HNSCC(38;0.096)																												uc003yne.2		NaN																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(9292-9294)GAA>CAA		fibrocystin L precursor							51.0	52.0	52.0					8																	110492333		1829	4079	5908	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110492333G>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.9292G>C	8.37:g.110492333G>C	ENSP00000367655:p.Glu3098Gln	HNSCC(38;0.096)					p.E3098Q	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		55	9396	+			3098			Extracellular (Potential).|G8 2.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.9292G>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369494	0.24771	.	.	ENSG00000205038	ENST00000378402	D	0.89196	-2.48	5.01	3.87	0.44632	G8 domain (2);	0.709186	0.13365	N	0.393340	T	0.80439	0.4623	N	0.19112	0.55	0.21604	N	0.999621	B	0.11235	0.004	B	0.19946	0.027	T	0.67484	-0.5659	10	0.35671	T	0.21	.	8.5293	0.33324	0.9041:0.0:0.0959:0.0	.	3098	Q86WI1	PKHL1_HUMAN	Q	3098	ENSP00000367655:E3098Q	ENSP00000367655:E3098Q	E	+	1	0	PKHD1L1	110561509	1.000000	0.71417	0.790000	0.31976	0.670000	0.39368	3.637000	0.54324	0.871000	0.35750	-0.312000	0.09012	GAA		0.353	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531		5	3	0	0	0	1	0	5	3		
DEPTOR	64798	broad.mit.edu	37	8	120977541	120977541	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:120977541C>T	ENST00000286234.5	+	4	625	c.495C>T	c.(493-495)ttC>ttT	p.F165F	DEPTOR_ENST00000523492.1_Silent_p.F64F	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	165	DEP 2. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						AGCGCACCTTCATGGCATCTG	0.532																																						uc003yow.3		NaN																	0					0						c.(493-495)TTC>TTT		DEP domain containing 6							115.0	99.0	105.0					8																	120977541		2203	4300	6503	SO:0001819	synonymous_variant	64798				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding	g.chr8:120977541C>T		CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"""DEP domain containing 6"""	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.495C>T	8.37:g.120977541C>T						DEPDC6_uc011lid.1_Silent_p.F64F	p.F165F	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		4	682	+	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		165			DEP 2.		B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Silent	SNP	ENST00000286234.5	37	c.495C>T	CCDS6331.1																																																																																				0.532	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1		NM_022783		41	61	0	0	0	1	0	41	61		
WISP1	8840	broad.mit.edu	37	8	134239872	134239872	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:134239872C>T	ENST00000250160.6	+	5	1129	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	WISP1-UT1_ENST00000602893.1_RNA|WISP1_ENST00000517423.1_3'UTR|WISP1_ENST00000377863.2_Silent_p.F169F|WISP1_ENST00000519433.1_Silent_p.F96F|WISP1_ENST00000220856.6_Silent_p.F254F	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	341	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ATGCCTGCTTCTGTAACCTGA	0.502																																						uc003yub.2		NaN																	0				central_nervous_system(1)|kidney(1)	2						c.(1021-1023)TTC>TTT		WNT1 inducible signaling pathway protein 1							164.0	129.0	141.0					8																	134239872		2203	4300	6503	SO:0001819	synonymous_variant	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134239872C>T	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.1023C>T	8.37:g.134239872C>T						WISP1_uc003yuc.2_Silent_p.F254F|WISP1_uc010meb.2_Silent_p.F169F|WISP1_uc010mec.2_3'UTR|WISP1_uc010med.2_Silent_p.F96F|WISP1_uc003yud.2_RNA	p.F341F	NM_003882	NP_003873	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		5	1099	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		341			CTCK.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Silent	SNP	ENST00000250160.6	37	c.1023C>T	CCDS6371.1																																																																																				0.502	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2		NM_003882		61	59	0	0	0	1	0	61	59		
NDRG1	10397	broad.mit.edu	37	8	134266798	134266798	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:134266798G>C	ENST00000414097.2	-	9	1445	c.578C>G	c.(577-579)tCc>tGc	p.S193C	NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000537882.1_Missense_Mutation_p.S112C|NDRG1_ENST00000354944.5_Missense_Mutation_p.S123C|NDRG1_ENST00000323851.7_Missense_Mutation_p.S193C|NDRG1_ENST00000522476.1_Missense_Mutation_p.S127C	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	193					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AAAAAGGTGGGACACCACCAT	0.537			T	ERG	prostate																																	uc003yuh.2		NaN		Dom	yes		8	8q24.3	10397		N-myc downstream regulated 1			E					0				ovary(4)	4						c.(577-579)TCC>TGC		N-myc downstream regulated 1							97.0	74.0	82.0					8																	134266798		2203	4300	6503	SO:0001583	missense	10397				cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding	g.chr8:134266798G>C	X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.578C>G	8.37:g.134266798G>C	ENSP00000404854:p.Ser193Cys					NDRG1_uc003yuf.1_Missense_Mutation_p.S4C|NDRG1_uc003yug.2_Missense_Mutation_p.S193C|NDRG1_uc010mee.2_Missense_Mutation_p.S112C|NDRG1_uc010mef.2_Missense_Mutation_p.S127C|NDRG1_uc011ljh.1_Missense_Mutation_p.S21C|NDRG1_uc011lji.1_Intron	p.S193C	NM_001135242	NP_001128714	Q92597	NDRG1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		9	1164	-	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		193					B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP	ENST00000414097.2	37	c.578C>G	CCDS34945.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554319	0.86231	.	.	ENSG00000104419	ENST00000323851;ENST00000354944;ENST00000414097;ENST00000537882;ENST00000535532;ENST00000522476	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2	5.87	5.87	0.94306	.	0.094774	0.64402	D	0.000001	T	0.46092	0.1375	M	0.69823	2.125	0.80722	D	1	D	0.71674	0.998	D	0.65443	0.935	T	0.12372	-1.0550	10	0.37606	T	0.19	-34.9932	18.794	0.91987	0.0:0.0:1.0:0.0	.	193	Q92597	NDRG1_HUMAN	C	193;123;193;112;21;127	ENSP00000319977:S193C;ENSP00000347028:S123C;ENSP00000404854:S193C;ENSP00000437443:S112C;ENSP00000427894:S127C	ENSP00000319977:S193C	S	-	2	0	NDRG1	134335980	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.994000	0.93529	2.784000	0.95788	0.549000	0.68633	TCC		0.537	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1				24	35	0	0	0	1	0	24	35		
SLC45A4	57210	broad.mit.edu	37	8	142229062	142229062	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:142229062C>T	ENST00000024061.3	-	4	831	c.524G>A	c.(523-525)tGg>tAg	p.W175*	SLC45A4_ENST00000433583.2_Nonsense_Mutation_p.W168*|SLC45A4_ENST00000517878.1_Nonsense_Mutation_p.W226*|SLC45A4_ENST00000519067.1_Nonsense_Mutation_p.W175*	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGTCCGGAACCAGCTGCCCAG	0.647																																						uc003ywd.1		NaN																	0				ovary(2)	2						c.(523-525)TGG>TAG		solute carrier family 45, member 4							76.0	82.0	80.0					8																	142229062		2203	4300	6503	SO:0001587	stop_gained	57210				transport	integral to membrane		g.chr8:142229062C>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.524G>A	8.37:g.142229062C>T	ENSP00000024061:p.Trp175*					SLC45A4_uc003ywc.1_Nonsense_Mutation_p.W175*|SLC45A4_uc010meq.1_Nonsense_Mutation_p.W173*	p.W175*	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	832	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		226					Q6ZRI2|Q9ULU3	Nonsense_Mutation	SNP	ENST00000024061.3	37	c.524G>A	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	38	7.164825	0.98107	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061;ENST00000520137	.	.	.	5.45	4.51	0.55191	.	0.579581	0.19313	N	0.117356	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-16.0369	11.6353	0.51200	0.3509:0.6491:0.0:0.0	.	.	.	.	X	175;226;168;175;33	.	ENSP00000024061:W175X	W	-	2	0	SLC45A4	142298244	0.999000	0.42202	1.000000	0.80357	0.865000	0.49528	2.598000	0.46223	2.560000	0.86352	0.555000	0.69702	TGG		0.647	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3		XM_050325		89	89	0	0	0	1	0	89	89		
ZNF623	9831	broad.mit.edu	37	8	144732634	144732634	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:144732634C>G	ENST00000501748.2	+	1	681	c.592C>G	c.(592-594)Cag>Gag	p.Q198E	ZNF623_ENST00000526926.1_Missense_Mutation_p.Q158E|ZNF623_ENST00000458270.2_Missense_Mutation_p.Q158E	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CATTGAGCATCAGCGCGTTCA	0.473																																						uc003yzd.2		NaN																	0					0						c.(592-594)CAG>GAG		zinc finger protein 623 isoform 1							107.0	93.0	98.0					8																	144732634		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732634C>G	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.592C>G	8.37:g.144732634C>G	ENSP00000445979:p.Gln198Glu					ZNF623_uc011lkp.1_Missense_Mutation_p.Q158E|ZNF623_uc003yzc.2_Missense_Mutation_p.Q158E	p.Q198E	NM_014789	NP_055604	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	681	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		198			C2H2-type 3.		A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.592C>G	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264254	0.39995	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.07327	3.2;3.2;3.2	4.37	3.48	0.39840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06690	0.0171	N	0.17248	0.465	0.23903	N	0.996516	B	0.06786	0.001	B	0.04013	0.001	T	0.30937	-0.9961	9	0.62326	D	0.03	-15.7782	12.3034	0.54887	0.0:0.8274:0.1726:0.0	.	198	O75123	ZN623_HUMAN	E	158;158;158;198;198	ENSP00000435232:Q158E;ENSP00000411139:Q158E;ENSP00000445979:Q198E	ENSP00000330358:Q158E	Q	+	1	0	ZNF623	144803777	0.000000	0.05858	0.783000	0.31826	0.087000	0.18053	0.294000	0.19047	1.166000	0.42689	0.655000	0.94253	CAG		0.473	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3		NM_014789		57	62	0	0	0	1	0	57	62		
EPPK1	83481	broad.mit.edu	37	8	144946756	144946756	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:144946756G>A	ENST00000525985.1	-	2	737	c.666C>T	c.(664-666)ccC>ccT	p.P222P				P58107	EPIPL_HUMAN	epiplakin 1	222						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCCGAGCCGGGGGCACGCA	0.662																																						uc003zaa.1		NaN																	0				pancreas(1)|skin(1)	2						c.(664-666)CCC>CCT		epiplakin 1							20.0	26.0	24.0					8																	144946756		2139	4226	6365	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144946756G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.666C>T	8.37:g.144946756G>A							p.P222P	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	679	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		222			Plectin 5.		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.666C>T																																																																																					0.662	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1		NM_031308		11	16	0	0	0	1	0	11	16		
EXOSC4	54512	broad.mit.edu	37	8	145134907	145134907	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:145134907C>T	ENST00000316052.5	+	2	336	c.233C>T	c.(232-234)tCa>tTa	p.S78L	GPAA1_ENST00000361036.6_5'Flank|CTD-3065J16.9_ENST00000524499.1_RNA|GPAA1_ENST00000355091.4_5'Flank|EXOSC4_ENST00000525936.1_Missense_Mutation_p.S78L	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	78					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAATATAGTTCAGCGACCTTC	0.617																																						uc003zau.2		NaN																	0					0						c.(232-234)TCA>TTA		exosome component 4							97.0	100.0	99.0					8																	145134907		2203	4300	6503	SO:0001583	missense	54512				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr8:145134907C>T	AF281133	CCDS6414.1	8q24.3	2004-03-26			ENSG00000178896	ENSG00000178896			18189	protein-coding gene	gene with protein product	"""exosome component Rrp41"""	606491				11110791	Standard	NM_019037		Approved	hRrp41p, FLJ20591, Rrp41p, RRP41, RRP41A, Ski6p, SKI6, p12A	uc003zau.3	Q9NPD3	OTTHUMG00000165437	ENST00000316052.5:c.233C>T	8.37:g.145134907C>T	ENSP00000315476:p.Ser78Leu					GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.2_5'Flank	p.S78L	NM_019037	NP_061910	Q9NPD3	EXOS4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	343	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		78						Missense_Mutation	SNP	ENST00000316052.5	37	c.233C>T	CCDS6414.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900959	0.33535	.	.	ENSG00000178896	ENST00000316052;ENST00000525936;ENST00000527954	T;T;T	0.61510	0.1;0.1;0.1	5.05	4.04	0.47022	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.095441	0.64402	D	0.000002	T	0.34716	0.0907	N	0.13168	0.305	0.41941	D	0.990611	B	0.06786	0.001	B	0.09377	0.004	T	0.30090	-0.9990	10	0.52906	T	0.07	-14.7886	4.5556	0.12135	0.0:0.7233:0.0:0.2767	.	78	Q9NPD3	EXOS4_HUMAN	L	78;78;101	ENSP00000315476:S78L;ENSP00000432661:S78L;ENSP00000436539:S101L	ENSP00000315476:S78L	S	+	2	0	EXOSC4	145206895	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	5.730000	0.68546	2.345000	0.79718	0.561000	0.74099	TCA		0.617	EXOSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384065.1		NM_019037		104	145	0	0	0	1	0	104	145		
TONSL	4796	broad.mit.edu	37	8	145661307	145661307	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr8:145661307C>T	ENST00000409379.3	-	17	2538	c.2509G>A	c.(2509-2511)Gag>Aag	p.E837K	AC084125.4_ENST00000544423.1_RNA|AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	837					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						ATGTCCAGCTCCAGCCAGTCC	0.736																																						uc011llg.1		NaN																	0					0						c.(2509-2511)GAG>AAG		NF-kappa-B inhibitor-like protein 2							9.0	12.0	11.0					8																	145661307		2118	4187	6305	SO:0001583	missense	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145661307C>T		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.2509G>A	8.37:g.145661307C>T	ENSP00000386239:p.Glu837Lys					uc011llh.1_Intron	p.E837K	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		17	2524	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		837					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	ENST00000409379.3	37	c.2509G>A	CCDS34968.2	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902011	0.33535	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.52295	0.67	4.44	4.44	0.53790	.	0.061993	0.64402	D	0.000008	T	0.54095	0.1837	L	0.54323	1.7	0.52501	D	0.999958	D	0.58268	0.982	P	0.52672	0.706	T	0.54002	-0.8358	10	0.39692	T	0.17	-11.8834	14.5997	0.68432	0.0:1.0:0.0:0.0	.	837	Q96HA7	TONSL_HUMAN	K	837;836	ENSP00000386239:E837K	ENSP00000386239:E837K	E	-	1	0	TONSL	145632115	1.000000	0.71417	0.930000	0.37139	0.031000	0.12232	4.490000	0.60319	2.309000	0.77851	0.313000	0.20887	GAG		0.736	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2		NM_013432		9	17	0	0	0	1	0	9	17		
DOCK8	81704	broad.mit.edu	37	9	446486	446486	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:446486C>G	ENST00000453981.1	+	44	5809	c.5697C>G	c.(5695-5697)ttC>ttG	p.F1899L	DOCK8_ENST00000469391.1_Missense_Mutation_p.F1799L|DOCK8_ENST00000382329.1_Missense_Mutation_p.F1366L|DOCK8_ENST00000432829.2_Missense_Mutation_p.F1831L			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1899	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCACCCCGTTCACCCTGGAGG	0.522																																						uc003zgf.2		NaN																	0				ovary(3)|central_nervous_system(3)	6						c.(5695-5697)TTC>TTG		dedicator of cytokinesis 8							93.0	98.0	96.0					9																	446486		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:446486C>G	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5697C>G	9.37:g.446486C>G	ENSP00000408464:p.Phe1899Leu					DOCK8_uc010mgu.2_Missense_Mutation_p.F1201L|DOCK8_uc010mgv.2_Missense_Mutation_p.F1799L|DOCK8_uc003zgk.2_Missense_Mutation_p.F1357L	p.F1899L	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	44	5809	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1899					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.5697C>G	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471848	0.84533	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.13	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	M	0.91663	3.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.63422	-0.6641	10	0.87932	D	0	.	10.5177	0.44900	0.0:0.8518:0.0:0.1482	.	1799;1366;1899	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	L	1899;1867;1831;1799;1366	ENSP00000408464:F1899L;ENSP00000394888:F1831L;ENSP00000419438:F1799L;ENSP00000371766:F1366L	ENSP00000287364:F1867L	F	+	3	2	DOCK8	436486	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.096000	0.50243	2.678000	0.91216	0.563000	0.77884	TTC		0.522	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5		XM_036307		67	99	0	0	0	1	0	67	99		
RFX3	5991	broad.mit.edu	37	9	3257090	3257090	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:3257090C>T	ENST00000382004.3	-	15	2026	c.1715G>A	c.(1714-1716)tGg>tAg	p.W572*	RFX3_ENST00000358730.2_Nonsense_Mutation_p.W572*|RFX3_ENST00000302303.1_Nonsense_Mutation_p.W572*	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	572					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		ATTGTCAAGCCACGCAGCCCA	0.498																																						uc003zhr.2		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1714-1716)TGG>TAG		regulatory factor X3 isoform b							151.0	138.0	142.0					9																	3257090		2203	4300	6503	SO:0001587	stop_gained	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3257090C>T	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1715G>A	9.37:g.3257090C>T	ENSP00000371434:p.Trp572*					RFX3_uc010mhd.2_Nonsense_Mutation_p.W572*|RFX3_uc003zhs.1_Nonsense_Mutation_p.W572*	p.W572*	NM_134428	NP_602304	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	15	2027	-			572					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Nonsense_Mutation	SNP	ENST00000382004.3	37	c.1715G>A	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	C	42	9.580628	0.99210	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303;ENST00000449234;ENST00000381986;ENST00000458034	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.1776	20.2576	0.98430	0.0:1.0:0.0:0.0	.	.	.	.	X	572;572;572;37;51;145	.	ENSP00000303847:W572X	W	-	2	0	RFX3	3247090	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.818000	0.86416	2.783000	0.95769	0.655000	0.94253	TGG		0.498	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1		NM_002919		64	71	0	0	0	1	0	64	71		
FREM1	158326	broad.mit.edu	37	9	14824958	14824958	+	Silent	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:14824958G>A	ENST00000380880.3	-	11	2697	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	FREM1_ENST00000422223.2_Silent_p.D638D|FREM1_ENST00000380881.4_Silent_p.D639D			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	638					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTGGAAGCTGGTCATCCACTG	0.383																																						uc003zlm.2		NaN																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(1912-1914)GAC>GAT		FRAS1 related extracellular matrix 1 precursor							78.0	73.0	75.0					9																	14824958		1824	4075	5899	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14824958G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1914C>T	9.37:g.14824958G>A						FREM1_uc010mic.2_RNA	p.D638D	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	11	2504	-			638			CSPG 4.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.1914C>T	CCDS47952.1																																																																																				0.383	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2		NM_144966		28	33	0	0	0	1	0	28	33		
PTPLAD2	401494	broad.mit.edu	37	9	21007098	21007098	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:21007098G>T	ENST00000495827.2	-	7	682	c.637C>A	c.(637-639)Cat>Aat	p.H213N	PTPLAD2_ENST00000513293.2_Missense_Mutation_p.H213N	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	213					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		GAGTATAGATGACTGTAGGTA	0.348																																						uc010miq.1		NaN																	0				skin(1)	1						c.(637-639)CAT>AAT		protein tyrosine phosphatase-like A domain							119.0	106.0	110.0					9																	21007098		1832	4087	5919	SO:0001583	missense	401494				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity	g.chr9:21007098G>T		CCDS43791.1	9p21.3	2008-02-05			ENSG00000188921	ENSG00000188921			20920	protein-coding gene	gene with protein product		615941					Standard	NM_001010915		Approved	Em:AL662879.1, OTTHUMG00000021016	uc010mir.1	Q5VWC8	OTTHUMG00000021016	ENST00000495827.2:c.637C>A	9.37:g.21007098G>T	ENSP00000419503:p.His213Asn					PTPLAD2_uc003zoj.1_Missense_Mutation_p.H176N|PTPLAD2_uc010mir.1_Missense_Mutation_p.H213N	p.H213N	NM_001010915	NP_001010915	Q5VWC8	HACD4_HUMAN		Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)	7	683	-			213			Cytoplasmic (Potential).		Q7Z385	Missense_Mutation	SNP	ENST00000495827.2	37	c.637C>A	CCDS43791.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474580	0.63737	.	.	ENSG00000188921	ENST00000513293;ENST00000495827	T;T	0.32988	1.43;1.43	5.68	5.68	0.88126	.	0.224190	0.46758	D	0.000266	T	0.31104	0.0786	L	0.52364	1.645	0.34873	D	0.74379	B	0.24132	0.098	B	0.27500	0.08	T	0.38415	-0.9662	10	0.62326	D	0.03	-9.4537	12.6417	0.56712	0.0:0.0:0.8351:0.1649	.	213	Q5VWC8	HACD4_HUMAN	N	213	ENSP00000426475:H213N;ENSP00000419503:H213N	ENSP00000419503:H213N	H	-	1	0	PTPLAD2	20997098	1.000000	0.71417	0.999000	0.59377	0.889000	0.51656	2.531000	0.45650	2.835000	0.97688	0.650000	0.86243	CAT		0.348	PTPLAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055434.3		NM_001010915		27	50	1	0	2.80507e-11	1	2.86585e-11	27	50		
UBAP2	55833	broad.mit.edu	37	9	33927842	33927842	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:33927842G>A	ENST00000379238.1	-	20	2441	c.2324C>T	c.(2323-2325)gCg>gTg	p.A775V	UBAP2_ENST00000539807.1_Missense_Mutation_p.A530V|UBAP2_ENST00000379235.1_Missense_Mutation_p.A14V|UBAP2_ENST00000449054.1_Missense_Mutation_p.A775V|UBAP2_ENST00000379239.4_Missense_Mutation_p.A508V|UBAP2_ENST00000360802.1_Missense_Mutation_p.A775V					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GGATGCACTCGCGGGGGTCCC	0.642																																						uc003ztq.1		NaN																	0				ovary(3)	3						c.(2323-2325)GCG>GTG		ubiquitin associated protein 2							80.0	82.0	82.0					9																	33927842		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33927842G>A	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.2324C>T	9.37:g.33927842G>A	ENSP00000368540:p.Ala775Val					UBAP2_uc011loc.1_Missense_Mutation_p.A684V|UBAP2_uc011lod.1_Missense_Mutation_p.A508V|UBAP2_uc011loe.1_Missense_Mutation_p.A530V|UBAP2_uc011lof.1_Missense_Mutation_p.A700V|UBAP2_uc011log.1_3'UTR|UBAP2_uc003ztn.1_Missense_Mutation_p.A14V|UBAP2_uc003zto.1_Missense_Mutation_p.A14V|UBAP2_uc003ztp.1_Missense_Mutation_p.A14V	p.A775V	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	20	2437	-			775						Missense_Mutation	SNP	ENST00000379238.1	37	c.2324C>T	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	G	9.496	1.101971	0.20632	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379235;ENST00000379239;ENST00000539807;ENST00000351580	T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5	5.92	-3.72	0.04411	.	1.011640	0.07891	N	0.971212	T	0.13030	0.0316	N	0.17474	0.49	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	0.04013	0.001;0.001;0.001;0.001;0.0	T	0.29397	-1.0013	10	0.18276	T	0.48	3.4767	1.7705	0.03010	0.3614:0.1916:0.3175:0.1296	.	700;530;508;684;775	F5H4D5;F5H2U4;A6NCA8;F5H2C8;Q5T6F2	.;.;.;.;UBAP2_HUMAN	V	775;775;775;684;14;508;530;211	ENSP00000368540:A775V;ENSP00000416932:A775V;ENSP00000354039:A775V;ENSP00000368537:A14V;ENSP00000368541:A508V;ENSP00000439329:A530V	ENSP00000259602:A211V	A	-	2	0	UBAP2	33917842	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.013000	0.12678	-0.677000	0.05231	-0.136000	0.14681	GCG		0.642	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1		NM_018449		84	106	0	0	0	1	0	84	106		
KIAA1045	23349	broad.mit.edu	37	9	34976667	34976667	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:34976667G>A	ENST00000242315.3	+	5	861	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.R260Q	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	260							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)			CCTGAACATCGAGGCCACATA	0.632																																						uc003zvq.2		NaN																	0				skin(1)	1						c.(778-780)CGA>CAA		hypothetical protein LOC23349							58.0	63.0	61.0					9																	34976667		1992	4160	6152	SO:0001583	missense	23349						calcium ion binding	g.chr9:34976667G>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.779G>A	9.37:g.34976667G>A	ENSP00000242315:p.Arg260Gln					KIAA1045_uc003zvr.2_Missense_Mutation_p.R260Q	p.R260Q	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		5	957	+			260					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.779G>A	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519776	0.44866	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	T;T	0.21734	1.99;1.99	4.92	2.07	0.26955	EF-hand-like domain (1);	0.182580	0.37095	N	0.002249	T	0.09468	0.0233	N	0.12182	0.205	0.30391	N	0.780967	B	0.22346	0.068	B	0.10450	0.005	T	0.13495	-1.0507	10	0.31617	T	0.26	-5.7164	5.8176	0.18506	0.4096:0.0:0.5904:0.0	.	260	Q9UPV7	K1045_HUMAN	Q	260	ENSP00000444138:R260Q;ENSP00000242315:R260Q	ENSP00000242315:R260Q	R	+	2	0	KIAA1045	34966667	1.000000	0.71417	0.990000	0.47175	0.954000	0.61252	3.028000	0.49705	0.499000	0.27970	-0.258000	0.10820	CGA		0.632	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2		XM_048592		51	77	0	0	0	1	0	51	77		
SMC5	23137	broad.mit.edu	37	9	72962016	72962016	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:72962016T>C	ENST00000361138.5	+	20	2661	c.2603T>C	c.(2602-2604)aTt>aCt	p.I868T	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	868					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTGGATGAAATTGATGCTTTA	0.368																																						uc004ahr.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2602-2604)ATT>ACT		SMC5 protein							87.0	82.0	83.0					9																	72962016		2203	4300	6503	SO:0001583	missense	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72962016T>C	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2603T>C	9.37:g.72962016T>C	ENSP00000354957:p.Ile868Thr					SMC5_uc011lry.1_Missense_Mutation_p.I13T	p.I868T	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN			20	2720	+			868					A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	c.2603T>C	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	T	19.27	3.794608	0.70452	.	.	ENSG00000198887	ENST00000361138	T	0.20332	2.08	5.91	5.91	0.95273	RecF/RecN/SMC (1);	0.049264	0.85682	D	0.000000	T	0.50939	0.1645	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.54622	-0.8266	10	0.54805	T	0.06	-19.7701	16.3436	0.83110	0.0:0.0:0.0:1.0	.	868	Q8IY18	SMC5_HUMAN	T	868	ENSP00000354957:I868T	ENSP00000354957:I868T	I	+	2	0	SMC5	72151836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.480000	0.81109	2.269000	0.75478	0.533000	0.62120	ATT		0.368	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1		NM_015110		31	34	0	0	0	1	0	31	34		
TRPM6	140803	broad.mit.edu	37	9	77390846	77390846	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:77390846C>A	ENST00000360774.1	-	24	3593	c.3356G>T	c.(3355-3357)tGc>tTc	p.C1119F	TRPM6_ENST00000376864.4_Missense_Mutation_p.C1119F|TRPM6_ENST00000449912.2_Missense_Mutation_p.C1114F|TRPM6_ENST00000361255.3_Missense_Mutation_p.C1114F|TRPM6_ENST00000451710.3_Missense_Mutation_p.C1119F|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1119					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						TCGATGACAGCACAGGCGGCG	0.542																																						uc004ajl.1		NaN																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(3355-3357)TGC>TTC		transient receptor potential cation channel,							101.0	107.0	105.0					9																	77390846		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.chr9:77390846C>A	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.3356G>T	9.37:g.77390846C>A	ENSP00000354006:p.Cys1119Phe					TRPM6_uc004ajk.1_Missense_Mutation_p.C1114F|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.C75F	p.C1119F	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			24	3594	-			1119			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.3356G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	5.215	0.225108	0.09916	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.59224	0.36;0.36;0.37;0.37;0.28	5.87	4.04	0.47022	.	0.296988	0.44902	D	0.000408	T	0.45875	0.1364	L	0.41573	1.285	0.27146	N	0.96152	B;B;B	0.13594	0.003;0.008;0.005	B;B;B	0.17979	0.005;0.02;0.012	T	0.45891	-0.9230	10	0.87932	D	0	.	6.9211	0.24389	0.1492:0.7018:0.0:0.149	.	1119;1114;1114	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	F	1119;1119;1114;1114;1119;782;782	ENSP00000354006:C1119F;ENSP00000407341:C1119F;ENSP00000396672:C1114F;ENSP00000354962:C1114F;ENSP00000366060:C1119F	ENSP00000309693:C782F	C	-	2	0	TRPM6	76580666	0.974000	0.33945	0.021000	0.16686	0.018000	0.09664	1.048000	0.30379	0.832000	0.34804	0.591000	0.81541	TGC		0.542	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1		NM_017662		50	100	1	0	2.40265e-35	1	2.54814e-35	50	100		
PCSK5	5125	broad.mit.edu	37	9	78796359	78796359	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:78796359G>C	ENST00000545128.1	+	16	2587	c.2049G>C	c.(2047-2049)aaG>aaC	p.K683N	PCSK5_ENST00000376752.4_Missense_Mutation_p.K683N	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	683	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ACGCCGACAAGAAGCGCTGCA	0.522																																						uc004ajz.2		NaN																	0				ovary(2)|skin(1)	3						c.(2047-2049)AAG>AAC		proprotein convertase subtilisin/kexin type 5							78.0	69.0	72.0					9																	78796359		2203	4300	6503	SO:0001583	missense	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78796359G>C		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.2049G>C	9.37:g.78796359G>C	ENSP00000446280:p.Lys683Asn					PCSK5_uc004aka.2_RNA|PCSK5_uc004akb.2_5'UTR	p.K683N	NM_006200	NP_006191	Q92824	PCSK5_HUMAN			16	2587	+			683			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.2049G>C	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697916	0.88830	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000376752;ENST00000424854	T;D;T	0.85629	1.0;-2.01;1.0	6.06	6.06	0.98353	.	0.152807	0.64402	D	0.000012	T	0.75510	0.3859	N	0.25332	0.735	0.58432	D	0.999998	B	0.20988	0.05	B	0.18561	0.022	T	0.68671	-0.5347	10	0.13108	T	0.6	-28.2177	13.7717	0.63029	0.0697:0.0:0.9303:0.0	.	683	Q92824-2	.	N	683;386;683;356	ENSP00000446280:K683N;ENSP00000365943:K683N;ENSP00000411654:K356N	ENSP00000365943:K683N	K	+	3	2	PCSK5	77986179	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.487000	0.66863	2.882000	0.98803	0.655000	0.94253	AAG		0.522	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					26	52	0	0	0	1	0	26	52		
PSAT1	29968	broad.mit.edu	37	9	80912185	80912185	+	Splice_Site	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:80912185C>G	ENST00000376588.3	+	1	127	c.59C>G	c.(58-60)tCa>tGa	p.S20*	PSAT1_ENST00000347159.2_Splice_Site_p.S20*	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	20					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						CTGCCGCACTCAGTAAGTCCC	0.697																																					Colon(34;187 791 10662 18313 37609)	uc004ala.2		NaN																	0				ovary(1)	1						c.(58-60)TCA>TGA		phosphoserine aminotransferase 1 isoform 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						13.0	14.0	13.0					9																	80912185		2196	4294	6490	SO:0001630	splice_region_variant	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80912185C>G	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.60+1C>G	9.37:g.80912185C>G						PSAT1_uc004alb.2_Nonsense_Mutation_p.S20*	p.S20*	NM_058179	NP_478059	Q9Y617	SERC_HUMAN			1	127	+			20					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Nonsense_Mutation	SNP	ENST00000376588.3	37	c.59C>G	CCDS6660.1	.	.	.	.	.	.	.	.	.	.	C	37	6.438255	0.97568	.	.	ENSG00000135069	ENST00000347159;ENST00000376588	.	.	.	5.35	5.35	0.76521	.	0.254026	0.40728	N	0.001025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-2.4328	17.9898	0.89165	0.0:1.0:0.0:0.0	.	.	.	.	X	20	.	ENSP00000317606:S20X	S	+	2	0	PSAT1	80102005	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	5.801000	0.69115	2.785000	0.95823	0.591000	0.81541	TCA		0.697	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1		NM_021154	Nonsense_Mutation	14	14	0	0	0	1	0	14	14		
KIF27	55582	broad.mit.edu	37	9	86485462	86485462	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:86485462C>G	ENST00000297814.2	-	12	2872	c.2729G>C	c.(2728-2730)gGt>gCt	p.G910A	RP11-575L7.4_ENST00000586211.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000589233.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.G844A|KIF27_ENST00000334204.2_Intron|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000421734.3_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	910					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCCAAACGAACCTTTTCTCCT	0.363																																						uc004ana.2		NaN																	0				lung(4)|skin(1)	5						c.(2728-2730)GGT>GCT		kinesin family member 27							66.0	65.0	65.0					9																	86485462		2203	4298	6501	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86485462C>G	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2729G>C	9.37:g.86485462C>G	ENSP00000297814:p.Gly910Ala					KIF27_uc010mpw.2_Missense_Mutation_p.G844A|KIF27_uc010mpx.2_Intron	p.G910A	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN			12	2873	-			910					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.2729G>C	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	1.764	-0.486165	0.04352	.	.	ENSG00000165115	ENST00000297814;ENST00000413982	T;T	0.37584	1.19;1.19	3.74	1.68	0.24146	.	1.320640	0.05555	U	0.568239	T	0.34948	0.0915	M	0.64404	1.975	0.09310	N	1	P;B	0.37207	0.587;0.278	B;B	0.36464	0.225;0.058	T	0.27123	-1.0083	10	0.17832	T	0.49	.	8.1397	0.31076	0.438:0.562:0.0:0.0	.	844;910	Q86VH2-2;Q86VH2	.;KIF27_HUMAN	A	910;844	ENSP00000297814:G910A;ENSP00000401688:G844A	ENSP00000297814:G910A	G	-	2	0	KIF27	85675282	0.000000	0.05858	0.219000	0.23793	0.330000	0.28571	0.095000	0.15127	0.911000	0.36747	-0.758000	0.03466	GGT		0.363	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1		NM_017576		26	34	0	0	0	1	0	26	34		
ANP32B	10541	broad.mit.edu	37	9	100756947	100756947	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:100756947A>T	ENST00000339399.4	+	2	284	c.89A>T	c.(88-90)aAt>aTt	p.N30I	ANP32B_ENST00000473205.1_3'UTR	NM_006401.2	NP_006392.1	Q92688	AN32B_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member B	30					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|inner ear development (GO:0048839)|negative regulation of cell differentiation (GO:0045596)|nucleosome assembly (GO:0006334)|palate development (GO:0060021)|positive regulation of protein export from nucleus (GO:0046827)|vasculature development (GO:0001944)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	histone binding (GO:0042393)|RNA polymerase binding (GO:0070063)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0559)				TGCAAATCAAATGATGGAAAA	0.363																																						uc004aya.2		NaN																	0					0						c.(88-90)AAT>ATT		acidic (leucine-rich) nuclear phosphoprotein 32							74.0	73.0	74.0					9																	100756947		2203	4300	6503	SO:0001583	missense	10541					cytoplasm|nucleus		g.chr9:100756947A>T	Y07969	CCDS6732.1	9q22.32	2010-06-17			ENSG00000136938	ENSG00000136938		"""ANP32 acidic nuclear phosphoproteins"""	16677	protein-coding gene	gene with protein product	"""acidic protein rich in leucines"""					9285060, 9473664	Standard	NM_006401		Approved	SSP29, PHAPI2, APRIL	uc004aya.3	Q92688	OTTHUMG00000020338	ENST00000339399.4:c.89A>T	9.37:g.100756947A>T	ENSP00000345848:p.Asn30Ile						p.N30I	NM_006401	NP_006392	Q92688	AN32B_HUMAN			2	438	+		Acute lymphoblastic leukemia(62;0.0559)	30			LRR 1.		B2R9C7|O00655|P78458|P78459	Missense_Mutation	SNP	ENST00000339399.4	37	c.89A>T	CCDS6732.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.738089	0.30774	.	.	ENSG00000136938	ENST00000339399	T	0.00025	8.95	5.52	3.14	0.36123	.	0.571158	0.20026	N	0.100811	T	0.00073	0.0002	N	0.21282	0.65	0.32371	N	0.5559	B	0.14438	0.01	B	0.18871	0.023	T	0.00731	-1.1590	10	0.29301	T	0.29	-5.9905	7.1185	0.25431	0.7954:0.0:0.0733:0.1313	.	30	Q92688	AN32B_HUMAN	I	30	ENSP00000345848:N30I	ENSP00000345848:N30I	N	+	2	0	ANP32B	99796768	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.204000	0.51082	0.456000	0.26937	0.533000	0.62120	AAT		0.363	ANP32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053346.4		NM_006401		32	52	0	0	0	1	0	32	52		
OR13C4	138804	broad.mit.edu	37	9	107289386	107289386	+	Silent	SNP	G	G	A	rs371572419	byFrequency	TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:107289386G>A	ENST00000277216.3	-	1	104	c.105C>T	c.(103-105)taC>taT	p.Y35Y		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	35						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(2)|lung(14)|skin(1)	18						GAATCACTACGTACATAACTA	0.413													A|||	2	0.000399361	0.0	0.0	5008	,	,		21278	0.0		0.0	False		,,,				2504	0.002					uc011lvn.1		NaN																	0				skin(1)	1						c.(103-105)TAC>TAT		olfactory receptor, family 13, subfamily C,		A		0,4406		0,0,2203	115.0	104.0	107.0		105	-5.8	0.6	9		107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR13C4	NM_001001919.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		35/319	107289386	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107289386G>A		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.105C>T	9.37:g.107289386G>A							p.Y35Y	NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN			1	105	-			35			Helical; Name=1; (Potential).		Q6IF51|Q96R41	Silent	SNP	ENST00000277216.3	37	c.105C>T	CCDS35088.1																																																																																				0.413	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1				68	81	0	0	0	1	0	68	81		
FBXW2	26190	broad.mit.edu	37	9	123550366	123550366	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:123550366G>C	ENST00000608872.1	-	3	358	c.171C>G	c.(169-171)ctC>ctG	p.L57L	FBXW2_ENST00000340778.5_Silent_p.L57L	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	57	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						GAAGGAGTTTGAGGAAGTCCC	0.463																																						uc004bkl.1		NaN																	0				urinary_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(169-171)CTC>CTG		F-box and WD repeat domain containing 2							81.0	80.0	80.0					9																	123550366		1884	4127	6011	SO:0001819	synonymous_variant	26190				proteolysis		protein binding|ubiquitin-protein ligase activity	g.chr9:123550366G>C	AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13608	protein-coding gene	gene with protein product		609071	"""F-box and WD-40 domain protein 2"""			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.171C>G	9.37:g.123550366G>C						FBXW2_uc011lyc.1_5'UTR|FBXW2_uc004bkn.2_Silent_p.L89L|FBXW2_uc004bkm.1_Silent_p.L57L|FBXW2_uc010mvj.1_Silent_p.L57L	p.L57L	NM_012164	NP_036296	Q9UKT8	FBXW2_HUMAN			3	332	-			57			F-box.		B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Silent	SNP	ENST00000608872.1	37	c.171C>G	CCDS43872.1																																																																																				0.463	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053834.2				45	64	0	0	0	1	0	45	64		
C5	727	broad.mit.edu	37	9	123737147	123737147	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:123737147C>G	ENST00000223642.1	-	30	3956	c.3927G>C	c.(3925-3927)ttG>ttC	p.L1309F		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1309					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TGTCCATACTCAAGCGGAGTT	0.403																																						uc004bkv.2		NaN																	0				ovary(2)	2						c.(3925-3927)TTG>TTC		complement component 5 preproprotein	Eculizumab(DB01257)						149.0	146.0	147.0					9																	123737147		2203	4300	6503	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123737147C>G	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3927G>C	9.37:g.123737147C>G	ENSP00000223642:p.Leu1309Phe						p.L1309F	NM_001735	NP_001726	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	30	3957	-			1309					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.3927G>C	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786193	0.49997	.	.	ENSG00000106804	ENST00000223642	T	0.35048	1.33	5.71	5.71	0.89125	.	0.151709	0.42821	D	0.000649	T	0.60996	0.2312	M	0.80847	2.515	0.41106	D	0.985706	D	0.89917	1.0	D	0.85130	0.997	T	0.64892	-0.6300	10	0.66056	D	0.02	.	12.2052	0.54348	0.0:0.9231:0.0:0.0769	.	1309	P01031	CO5_HUMAN	F	1309	ENSP00000223642:L1309F	ENSP00000223642:L1309F	L	-	3	2	C5	122776968	1.000000	0.71417	0.891000	0.34965	0.226000	0.24999	3.585000	0.53943	2.686000	0.91538	0.650000	0.86243	TTG		0.403	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1		NM_001735		101	131	0	0	0	1	0	101	131		
ZBTB6	10773	broad.mit.edu	37	9	125673538	125673538	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:125673538C>G	ENST00000373659.3	-	2	902	c.814G>C	c.(814-816)Gat>Cat	p.D272H		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	272					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(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						AAGCCCTGATCTTGATTCCCA	0.428																																						uc004bnh.2		NaN																	0					0						c.(814-816)GAT>CAT		zinc finger and BTB domain containing 6							91.0	81.0	84.0					9																	125673538		2203	4300	6503	SO:0001583	missense	10773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125673538C>G	X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16764	protein-coding gene	gene with protein product		605976	"""zinc finger protein 482"""	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.814G>C	9.37:g.125673538C>G	ENSP00000362763:p.Asp272His						p.D272H	NM_006626	NP_006617	Q15916	ZBTB6_HUMAN			2	903	-			272					A8K8N6	Missense_Mutation	SNP	ENST00000373659.3	37	c.814G>C	CCDS6846.1	.	.	.	.	.	.	.	.	.	.	C	0.343	-0.949391	0.02304	.	.	ENSG00000186130	ENST00000373659	T	0.08984	3.03	5.87	1.39	0.22231	.	0.980915	0.08380	N	0.954645	T	0.04634	0.0126	N	0.08118	0	0.09310	N	1	B	0.17268	0.021	B	0.19946	0.027	T	0.42582	-0.9443	10	0.45353	T	0.12	.	5.7455	0.18118	0.2196:0.5409:0.0:0.2395	.	272	Q15916	ZBTB6_HUMAN	H	272	ENSP00000362763:D272H	ENSP00000362763:D272H	D	-	1	0	ZBTB6	124713359	0.000000	0.05858	0.625000	0.29200	0.680000	0.39746	0.448000	0.21726	0.481000	0.27557	-0.137000	0.14449	GAT		0.428	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053962.1		NM_006626		23	39	0	0	0	1	0	23	39		
ZBTB6	10773	broad.mit.edu	37	9	125673781	125673781	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:125673781C>G	ENST00000373659.3	-	2	659	c.571G>C	c.(571-573)Gag>Cag	p.E191Q		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	191					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(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						GTCAGACTCTCTACTGTAGAC	0.353																																						uc004bnh.2		NaN																	0					0						c.(571-573)GAG>CAG		zinc finger and BTB domain containing 6							60.0	61.0	61.0					9																	125673781		2203	4300	6503	SO:0001583	missense	10773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:125673781C>G	X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16764	protein-coding gene	gene with protein product		605976	"""zinc finger protein 482"""	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.571G>C	9.37:g.125673781C>G	ENSP00000362763:p.Glu191Gln						p.E191Q	NM_006626	NP_006617	Q15916	ZBTB6_HUMAN			2	660	-			191					A8K8N6	Missense_Mutation	SNP	ENST00000373659.3	37	c.571G>C	CCDS6846.1	.	.	.	.	.	.	.	.	.	.	C	9.557	1.117427	0.20877	.	.	ENSG00000186130	ENST00000373659	T	0.08807	3.05	5.96	4.05	0.47172	.	0.560297	0.19686	N	0.108385	T	0.03434	0.0099	N	0.02011	-0.69	0.33812	D	0.62796	B	0.02656	0.0	B	0.04013	0.001	T	0.26573	-1.0099	10	0.13470	T	0.59	.	14.152	0.65392	0.0:0.4714:0.5286:0.0	.	191	Q15916	ZBTB6_HUMAN	Q	191	ENSP00000362763:E191Q	ENSP00000362763:E191Q	E	-	1	0	ZBTB6	124713602	.	.	1.000000	0.80357	0.972000	0.66771	.	.	1.492000	0.48499	0.655000	0.94253	GAG		0.353	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053962.1		NM_006626		35	36	0	0	0	1	0	35	36		
GOLGA1	2800	broad.mit.edu	37	9	127689002	127689002	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:127689002C>G	ENST00000373555.4	-	7	751	c.418G>C	c.(418-420)Gat>Cat	p.D140H		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	140					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TCAAGCTGATCCATCTTTTCT	0.343																																						uc004bpc.2		NaN																	0				ovary(1)	1						c.(418-420)GAT>CAT		golgin 97							110.0	111.0	111.0					9																	127689002		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127689002C>G	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.418G>C	9.37:g.127689002C>G	ENSP00000362656:p.Asp140His					GOLGA1_uc010mws.2_RNA|GOLGA1_uc010mwt.1_Missense_Mutation_p.D115H	p.D140H	NM_002077	NP_002068	Q92805	GOGA1_HUMAN			7	760	-			140			Potential.		Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.418G>C	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138385	0.56936	.	.	ENSG00000136935	ENST00000373555	T	0.17528	2.27	5.1	3.96	0.45880	.	0.865739	0.09542	U	0.788104	T	0.18800	0.0451	N	0.14661	0.345	0.23533	N	0.997472	D;D	0.57257	0.979;0.97	P;P	0.55999	0.789;0.62	T	0.16364	-1.0405	10	0.33141	T	0.24	-5.3297	10.2703	0.43479	0.0:0.8303:0.0:0.1697	.	39;140	Q59HA1;Q92805	.;GOGA1_HUMAN	H	140	ENSP00000362656:D140H	ENSP00000362656:D140H	D	-	1	0	GOLGA1	126728823	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.445000	0.44899	2.530000	0.85305	0.591000	0.81541	GAT		0.343	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1		NM_002077		53	113	0	0	0	1	0	53	113		
GOLGA1	2800	broad.mit.edu	37	9	127691529	127691529	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:127691529C>T	ENST00000373555.4	-	5	600	c.267G>A	c.(265-267)gaG>gaA	p.E89E		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	89					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TTTCAAGCTTCTCTTTTATCT	0.368																																						uc004bpc.2		NaN																	0				ovary(1)	1						c.(265-267)GAG>GAA		golgin 97							153.0	145.0	148.0					9																	127691529		2203	4300	6503	SO:0001819	synonymous_variant	2800					Golgi cisterna membrane		g.chr9:127691529C>T	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.267G>A	9.37:g.127691529C>T						GOLGA1_uc010mws.2_5'Flank|GOLGA1_uc010mwt.1_Intron	p.E89E	NM_002077	NP_002068	Q92805	GOGA1_HUMAN			5	609	-			89			Potential.		Q5T164|Q8IYZ9	Silent	SNP	ENST00000373555.4	37	c.267G>A	CCDS6860.1																																																																																				0.368	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1		NM_002077		5	41	0	0	0	1	0	5	41		
GOLGA1	2800	broad.mit.edu	37	9	127691531	127691531	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:127691531C>T	ENST00000373555.4	-	5	598	c.265G>A	c.(265-267)Gag>Aag	p.E89K		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	89					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TCAAGCTTCTCTTTTATCTTC	0.363																																						uc004bpc.2		NaN																	0				ovary(1)	1						c.(265-267)GAG>AAG		golgin 97							151.0	143.0	146.0					9																	127691531		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127691531C>T	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.265G>A	9.37:g.127691531C>T	ENSP00000362656:p.Glu89Lys					GOLGA1_uc010mws.2_5'Flank|GOLGA1_uc010mwt.1_Intron	p.E89K	NM_002077	NP_002068	Q92805	GOGA1_HUMAN			5	607	-			89			Potential.		Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.265G>A	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587812	0.86851	.	.	ENSG00000136935	ENST00000373555;ENST00000421514	T;T	0.19105	2.17;2.17	6.16	6.16	0.99307	.	0.000000	0.45867	U	0.000324	T	0.42404	0.1201	L	0.56769	1.78	0.58432	D	0.999999	D	0.67145	0.996	P	0.62813	0.907	T	0.00931	-1.1510	10	0.29301	T	0.29	-18.0242	19.848	0.96722	0.0:1.0:0.0:0.0	.	89	Q92805	GOGA1_HUMAN	K	89	ENSP00000362656:E89K;ENSP00000396966:E89K	ENSP00000362656:E89K	E	-	1	0	GOLGA1	126731352	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.249000	0.78278	2.937000	0.99478	0.650000	0.86243	GAG		0.363	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1		NM_002077		5	42	0	0	0	1	0	5	42		
NUP188	23511	broad.mit.edu	37	9	131767776	131767776	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:131767776C>T	ENST00000372577.2	+	40	4725	c.4704C>T	c.(4702-4704)ttC>ttT	p.F1568F	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1568					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGCGCCACTTCACCCCAGATG	0.577																																						uc004bws.1		NaN																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(4702-4704)TTC>TTT		nucleoporin 188kDa							70.0	70.0	70.0					9																	131767776		2203	4300	6503	SO:0001819	synonymous_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131767776C>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4704C>T	9.37:g.131767776C>T							p.F1568F	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			40	4726	+			1568					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	ENST00000372577.2	37	c.4704C>T	CCDS35156.1																																																																																				0.577	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2				40	61	0	0	0	1	0	40	61		
BARHL1	56751	broad.mit.edu	37	9	135464731	135464731	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:135464731C>G	ENST00000263610.2	+	3	1419	c.806C>G	c.(805-807)tCc>tGc	p.S269C	BARHL1_ENST00000542090.1_Missense_Mutation_p.S269C	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	269					midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		AGTCTGGTTTCCAACCTGGAC	0.672																																						uc004cbp.1		NaN																	0					0						c.(805-807)TCC>TGC		BarH-like homeobox 1							44.0	54.0	50.0					9																	135464731		2203	4299	6502	SO:0001583	missense	56751					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:135464731C>G	AJ237816	CCDS6950.1	9q34.13	2011-06-20	2007-07-09		ENSG00000125492	ENSG00000125492		"""Homeoboxes / ANTP class : NKL subclass"""	953	protein-coding gene	gene with protein product		605211	"""BarH (Drosophila)-like 1"""				Standard	NM_020064		Approved		uc004cbp.1	Q9BZE3	OTTHUMG00000020839	ENST00000263610.2:c.806C>G	9.37:g.135464731C>G	ENSP00000263610:p.Ser269Cys						p.S269C	NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)	3	998	+			269					Q5T6V2|Q9NY88	Missense_Mutation	SNP	ENST00000263610.2	37	c.806C>G	CCDS6950.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292052	0.80914	.	.	ENSG00000125492	ENST00000263610;ENST00000542090	D;D	0.91180	-2.8;-2.8	4.93	4.03	0.46877	.	0.000000	0.85682	D	0.000000	D	0.90714	0.7086	L	0.34521	1.04	0.58432	D	0.99999	D	0.71674	0.998	P	0.61328	0.887	D	0.90747	0.4654	10	0.56958	D	0.05	.	12.0156	0.53311	0.0:0.9157:0.0:0.0843	.	269	Q9BZE3	BARH1_HUMAN	C	269	ENSP00000263610:S269C;ENSP00000444704:S269C	ENSP00000263610:S269C	S	+	2	0	BARHL1	134454552	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	4.615000	0.61190	1.292000	0.44672	0.655000	0.94253	TCC		0.672	BARHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054789.2				90	99	0	0	0	1	0	90	99		
CEL	1056	broad.mit.edu	37	9	135947083	135947083	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:135947083G>A	ENST00000372080.4	+	11	2219	c.2203G>A	c.(2203-2205)Gag>Aag	p.E735K	CEL_ENST00000351304.7_Missense_Mutation_p.E666K	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	732	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GGGTGACTCTGAGGCTGCCCC	0.682																																						uc010naa.1		NaN																	0				pancreas(1)	1						c.(2203-2205)GAG>AAG		carboxyl ester lipase precursor							16.0	19.0	18.0					9																	135947083		1835	4062	5897	SO:0001583	missense	1056				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity	g.chr9:135947083G>A	M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.2203G>A	9.37:g.135947083G>A	ENSP00000361151:p.Glu735Lys						p.E735K	NM_001807	NP_001798	P19835	CEL_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)	11	2219	+			732			16.|17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	ENST00000372080.4	37	c.2203G>A	CCDS43896.1	.	.	.	.	.	.	.	.	.	.	g	11.08	1.533629	0.27387	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	T;T	0.70516	-0.3;-0.49	2.82	-2.68	0.06041	.	.	.	.	.	T	0.36331	0.0963	N	0.02011	-0.69	0.09310	N	1	B	0.22003	0.063	B	0.17098	0.017	T	0.16808	-1.0390	9	0.36615	T	0.2	.	3.4128	0.07365	0.1074:0.3871:0.3617:0.1437	.	732	P19835	CEL_HUMAN	K	735;666;701	ENSP00000361151:E735K;ENSP00000342217:E666K	ENSP00000304021:E701K	E	+	1	0	CEL	134936904	0.406000	0.25344	0.000000	0.03702	0.008000	0.06430	1.514000	0.35834	-0.533000	0.06323	0.461000	0.40582	GAG		0.682	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054823.1				27	30	0	0	0	1	0	27	30		
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:137328351C>T	ENST00000481739.1	+	10	1332	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000540193.1_Missense_Mutation_p.S330F	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	GCTCTGCGCTCCATCGGGCTC	0.607																																						uc004cfb.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1279-1281)TCC>TTC		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						132.0	117.0	122.0					9																	137328351		2203	4300	6503	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137328351C>T	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1280C>T	9.37:g.137328351C>T	ENSP00000419692:p.Ser427Phe					RXRA_uc004cfc.1_Missense_Mutation_p.S330F	p.S427F	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	10	1442	+			427			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.1280C>T	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825420	0.90955	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.96940	-4.18;-4.18	4.76	4.76	0.60689	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99744	1.1016	10	0.87932	D	0	.	17.7817	0.88526	0.0:1.0:0.0:0.0	.	427	P19793	RXRA_HUMAN	F	427;330	ENSP00000419692:S427F;ENSP00000442123:S330F	ENSP00000419692:S427F	S	+	2	0	RXRA	136468172	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.532000	0.81985	2.193000	0.70182	0.591000	0.81541	TCC		0.607	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1		NM_002957		71	105	0	0	0	1	0	71	105		
SDCCAG3	10807	broad.mit.edu	37	9	139303520	139303520	+	Splice_Site	SNP	C	C	G	rs531168552		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:139303520C>G	ENST00000357365.3	-	3	350		c.e3-1		PMPCA_ENST00000371717.3_5'Flank|SDCCAG3_ENST00000298537.7_Intron|PMPCA_ENST00000371720.1_5'Flank|PMPCA_ENST00000399219.3_5'Flank|SDCCAG3_ENST00000371725.3_Intron	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3							cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TAGCCAAAATCTGCAAAGAAA	0.458																																						uc004chi.2		NaN																	0					0						c.e3-1		serologically defined colon cancer antigen 3							123.0	127.0	126.0					9																	139303520		1941	4153	6094	SO:0001630	splice_region_variant	10807					cytoplasm		g.chr9:139303520C>G	AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.221-1G>C	9.37:g.139303520C>G						SDCCAG3_uc004chj.2_Intron|SDCCAG3_uc004chk.2_Intron|PMPCA_uc011mdy.1_5'Flank|PMPCA_uc010nbk.2_5'Flank|PMPCA_uc004chl.2_5'Flank|PMPCA_uc010nbl.2_5'Flank|PMPCA_uc011mdz.1_5'Flank	p.D74_splice	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)	3	426	-		Myeloproliferative disorder(178;0.0511)						A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Splice_Site	SNP	ENST00000357365.3	37	c.221_splice	CCDS43904.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103609	0.56291	.	.	ENSG00000165689	ENST00000357365;ENST00000371723	.	.	.	3.86	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5925	0.50953	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SDCCAG3	138423341	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.840000	0.48215	2.420000	0.82092	0.655000	0.94253	.		0.458	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055060.2		NM_006643	Intron	47	96	0	0	0	1	0	47	96		
MAN1B1	11253	broad.mit.edu	37	9	140003028	140003028	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:140003028C>G	ENST00000371589.4	+	13	2158	c.2085C>G	c.(2083-2085)atC>atG	p.I695M	MAN1B1_ENST00000540391.1_3'UTR|MAN1B1_ENST00000474902.1_Missense_Mutation_p.I398M	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	695					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)		CTCTGCCTATCTGGACCCCTG	0.597																																						uc004cld.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2083-2085)ATC>ATG		alpha 1,2-mannosidase							131.0	129.0	130.0					9																	140003028		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.chr9:140003028C>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.2085C>G	9.37:g.140003028C>G	ENSP00000360645:p.Ile695Met					MAN1B1_uc011mep.1_3'UTR|MAN1B1_uc010ncc.2_RNA|MAN1B1_uc004clf.1_Missense_Mutation_p.I368M|MAN1B1_uc004clg.1_RNA	p.I695M	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	2120	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	695			Lumenal (Potential).		Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	ENST00000371589.4	37	c.2085C>G	CCDS7029.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.20|17.20|17.20	3.329257|3.329257|3.329257	0.60743|0.60743|0.60743	.|.|.	.|.|.	ENSG00000177239|ENSG00000177239|ENSG00000177239	ENST00000371589;ENST00000474902|ENST00000550113|ENST00000475449	D;D|.|.	0.83914|.|.	-1.78;-1.78|.|.	5.44|5.44|5.44	5.44|5.44|5.44	0.79542|0.79542|0.79542	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	D|D|D	0.83394|0.83394|0.83394	0.5245|0.5245|0.5245	M|M|M	0.86740|0.86740|0.86740	2.835|2.835|2.835	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	D;D|.|.	0.59357|.|.	0.971;0.985|.|.	P;P|.|.	0.61658|.|.	0.804;0.892|.|.	D|D|D	0.85425|0.85425|0.85425	0.1145|0.1145|0.1145	8|5|5	.|.|.	.|.|.	.|.|.	.|.|.	18.2271|18.2271|18.2271	0.89921|0.89921|0.89921	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	368;695|.|.	B3KXZ1;Q9UKM7|.|.	.;MA1B1_HUMAN|.|.	M|V|C	695;398|120|121	ENSP00000360645:I695M;ENSP00000447256:I398M|.|.	.|.|.	I|L|S	+|+|+	3|1|2	3|2|0	MAN1B1|MAN1B1|MAN1B1	139122849|139122849|139122849	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.649000|0.649000|0.649000	0.38597|0.38597|0.38597	3.692000|3.692000|3.692000	0.54727|0.54727|0.54727	2.561000|2.561000|2.561000	0.86390|0.86390|0.86390	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	ATC|CTG|TCT		0.597	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2		NM_016219		121	153	0	0	0	1	0	121	153		
RNF208	727800	broad.mit.edu	37	9	140115104	140115104	+	Silent	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:140115104G>C	ENST00000392827.1	-	2	729	c.561C>G	c.(559-561)ccC>ccG	p.P187P	RNF208_ENST00000391553.1_Silent_p.P187P			Q9H0X6	RN208_HUMAN	ring finger protein 208	187					protein autoubiquitination (GO:0051865)		ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGCGGCAGGTGGGGCAGGAGA	0.652																																						uc004clz.1		NaN																	0					0						c.(559-561)CCC>CCG		ring finger protein 208							56.0	43.0	48.0					9																	140115104		2193	4293	6486	SO:0001819	synonymous_variant	727800						zinc ion binding	g.chr9:140115104G>C	AF416715	CCDS7037.2	9q34.3	2007-01-19				ENSG00000212864		"""RING-type (C3HC4) zinc fingers"""	25420	protein-coding gene	gene with protein product						11230166	Standard	NM_031297		Approved	DKFZP761H1710	uc004clz.2	Q9H0X6		ENST00000392827.1:c.561C>G	9.37:g.140115104G>C							p.P187P	NM_031297	NP_112587	Q9H0X6	RN208_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	1	672	-	all_cancers(76;0.0926)		187			RING-type.		A2BFA0	Silent	SNP	ENST00000392827.1	37	c.561C>G	CCDS7037.2																																																																																				0.652	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254714.1		NM_031297		14	42	0	0	0	1	0	14	42		
RNF208	727800	broad.mit.edu	37	9	140115581	140115581	+	Silent	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr9:140115581G>T	ENST00000392827.1	-	2	252	c.84C>A	c.(82-84)ctC>ctA	p.L28L	RNF208_ENST00000391553.1_Silent_p.L28L			Q9H0X6	RN208_HUMAN	ring finger protein 208	28					protein autoubiquitination (GO:0051865)		ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCTCCATCTTGAGGATGACAT	0.662																																						uc004clz.1		NaN																	0					0						c.(82-84)CTC>CTA		ring finger protein 208							16.0	19.0	18.0					9																	140115581		1952	4136	6088	SO:0001819	synonymous_variant	727800						zinc ion binding	g.chr9:140115581G>T	AF416715	CCDS7037.2	9q34.3	2007-01-19				ENSG00000212864		"""RING-type (C3HC4) zinc fingers"""	25420	protein-coding gene	gene with protein product						11230166	Standard	NM_031297		Approved	DKFZP761H1710	uc004clz.2	Q9H0X6		ENST00000392827.1:c.84C>A	9.37:g.140115581G>T							p.L28L	NM_031297	NP_112587	Q9H0X6	RN208_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	1	195	-	all_cancers(76;0.0926)		28					A2BFA0	Silent	SNP	ENST00000392827.1	37	c.84C>A	CCDS7037.2																																																																																				0.662	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254714.1		NM_031297		17	22	1	0	0.00152264	1	0.00153264	17	22		
OFD1	8481	broad.mit.edu	37	X	13757019	13757019	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:13757019C>G	ENST00000340096.6	+	4	694	c.367C>G	c.(367-369)Ctc>Gtc	p.L123V	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.L123V|OFD1_ENST00000398395.3_Missense_Mutation_p.L123V|OFD1_ENST00000380567.1_5'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	123					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TACTTCCAGTCTCTACAAATC	0.284																																						uc004cvp.3		NaN																	0					0						c.(367-369)CTC>GTC		oral-facial-digital syndrome 1							67.0	66.0	67.0					X																	13757019		2203	4292	6495	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13757019C>G	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.367C>G	X.37:g.13757019C>G	ENSP00000344314:p.Leu123Val					OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_5'UTR|OFD1_uc010nen.2_Missense_Mutation_p.L122V|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.L122V|OFD1_uc004cvv.3_Missense_Mutation_p.L122V	p.L123V	NM_003611	NP_003602	O75665	OFD1_HUMAN			4	726	+			123					B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.367C>G	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910913	0.52439	.	.	ENSG00000046651	ENST00000380550;ENST00000398395;ENST00000340096	D;D;D	0.97232	-4.13;-3.92;-4.3	4.94	3.07	0.35406	.	0.000000	0.85682	D	0.000000	D	0.97176	0.9077	M	0.61703	1.905	0.40311	D	0.978715	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.68943	0.961;0.961;0.961	D	0.95859	0.8881	10	0.45353	T	0.12	-9.9094	7.5508	0.27796	0.1334:0.7162:0.0:0.1504	.	123;123;123	A8K2T9;O75665-3;O75665	.;.;OFD1_HUMAN	V	123	ENSP00000369923:L123V;ENSP00000381432:L123V;ENSP00000344314:L123V	ENSP00000344314:L123V	L	+	1	0	OFD1	13666940	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.269000	0.33074	0.840000	0.34995	0.519000	0.50382	CTC		0.284	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1		NM_003611		63	5	0	0	0	1	0	63	5		
CYBB	1536	broad.mit.edu	37	X	37664367	37664367	+	Silent	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:37664367C>T	ENST00000378588.4	+	10	1327	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L	CYBB_ENST00000545017.1_Silent_p.L388L|CYBB_ENST00000536160.1_Silent_p.L153L|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	420			L -> P (in CGD; dbSNP:rs151344486). {ECO:0000269|PubMed:10914676}.		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)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	CATCCATTCTCAAGTCAGTCT	0.473																																						uc004ddr.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1258-1260)CTC>CTT		cytochrome b-245 beta polypeptide							205.0	133.0	157.0					X																	37664367		2202	4300	6502	SO:0001819	synonymous_variant	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37664367C>T	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1260C>T	X.37:g.37664367C>T						CYBB_uc011mkf.1_Silent_p.L388L|CYBB_uc011mkg.1_Silent_p.L153L	p.L420L	NM_000397	NP_000388	P04839	CY24B_HUMAN			10	1321	+			420		L -> P (in XCGD).	Cytoplasmic (Potential).		A8K138|Q2PP16	Silent	SNP	ENST00000378588.4	37	c.1260C>T	CCDS14242.1																																																																																				0.473	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1				39	6	0	0	0	1	0	39	6		
KDM6A	7403	broad.mit.edu	37	X	44918318	44918318	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:44918318G>C	ENST00000377967.4	+	11	984	c.943G>C	c.(943-945)Gaa>Caa	p.E315Q	KDM6A_ENST00000536777.1_Missense_Mutation_p.E315Q|KDM6A_ENST00000543216.1_Missense_Mutation_p.E315Q|KDM6A_ENST00000382899.4_Missense_Mutation_p.E315Q	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	315	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TGATAAATCAGAAGCAAGTGC	0.328			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		8	Whole gene deletion(6)|No detectable mRNA/protein(2)		haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(943-945)GAA>CAA		ubiquitously transcribed tetratricopeptide							101.0	89.0	93.0					X																	44918318		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44918318G>C	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.943G>C	X.37:g.44918318G>C	ENSP00000367203:p.Glu315Gln					KDM6A_uc010nhk.2_Missense_Mutation_p.E315Q|KDM6A_uc011mkz.1_Missense_Mutation_p.E315Q|KDM6A_uc011mla.1_Missense_Mutation_p.E315Q|KDM6A_uc011mlb.1_Missense_Mutation_p.E315Q|KDM6A_uc011mlc.1_Missense_Mutation_p.E64Q|KDM6A_uc011mld.1_5'UTR	p.E315Q	NM_021140	NP_066963	O15550	KDM6A_HUMAN			11	1318	+			315			TPR 6.		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.943G>C	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651152	0.88056	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	T;T;T;T	0.51325	2.25;2.25;0.71;2.25	5.1	5.1	0.69264	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.68293	0.2985	M	0.65677	2.01	0.53005	D	0.999968	D;D;D;D;D	0.89917	0.989;1.0;0.999;0.993;1.0	D;D;D;D;D	0.91635	0.979;0.999;0.998;0.979;0.998	T	0.72017	-0.4417	10	0.72032	D	0.01	-13.7586	17.9036	0.88912	0.0:0.0:1.0:0.0	.	315;315;315;315;315	F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;KDM6A_HUMAN	Q	315	ENSP00000367203:E315Q;ENSP00000437405:E315Q;ENSP00000372355:E315Q;ENSP00000443078:E315Q	ENSP00000367203:E315Q	E	+	1	0	KDM6A	44803262	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.248000	0.74166	0.513000	0.50165	GAA		0.328	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		42	7	0	0	0	1	0	42	7		
KDM6A	7403	broad.mit.edu	37	X	44941858	44941858	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:44941858C>G	ENST00000377967.4	+	21	3223	c.3182C>G	c.(3181-3183)tCa>tGa	p.S1061*	KDM6A_ENST00000536777.1_Nonsense_Mutation_p.S1016*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.S982*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.S1068*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1061	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AAAGACCACTCAGATAGTGAA	0.313			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		6	Whole gene deletion(6)		oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(3181-3183)TCA>TGA		ubiquitously transcribed tetratricopeptide							107.0	98.0	101.0					X																	44941858		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44941858C>G	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3182C>G	X.37:g.44941858C>G	ENSP00000367203:p.Ser1061*					KDM6A_uc011mkz.1_Nonsense_Mutation_p.S1113*|KDM6A_uc011mla.1_Nonsense_Mutation_p.S1016*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.S1068*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.S765*|KDM6A_uc011mld.1_Nonsense_Mutation_p.S700*	p.S1061*	NM_021140	NP_066963	O15550	KDM6A_HUMAN			21	3557	+			1061					Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.3182C>G	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	C	40	8.004392	0.98605	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.	.	.	5.5	5.5	0.81552	.	0.197757	0.45867	D	0.000332	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.3094	12.724	0.57159	0.0:0.9196:0.0:0.0804	.	.	.	.	X	758;1061;1016;1068;982	.	ENSP00000334340:S758X	S	+	2	0	KDM6A	44826802	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	3.252000	0.51461	2.297000	0.77311	0.538000	0.68166	TCA		0.313	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		39	4	0	0	0	1	0	39	4		
CXorf36	79742	broad.mit.edu	37	X	45010958	45010958	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:45010958C>G	ENST00000398000.2	-	5	1315	c.1241G>C	c.(1240-1242)aGa>aCa	p.R414T	CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	414						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						GTCACACGTTCTCAGGGGCCT	0.537																																						uc004dgg.2		NaN																	0				lung(1)	1						c.(1240-1242)AGA>ACA		hypothetical protein LOC79742 isoform 1							111.0	97.0	101.0					X																	45010958		1568	3582	5150	SO:0001583	missense	79742					extracellular region		g.chrX:45010958C>G	AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.1241G>C	X.37:g.45010958C>G	ENSP00000381086:p.Arg414Thr						p.R414T	NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN			5	1316	-			414					A8MUU5|B2RPN7|Q6UWJ5	Missense_Mutation	SNP	ENST00000398000.2	37	c.1241G>C	CCDS48096.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673857	0.67928	.	.	ENSG00000147113	ENST00000398000	T	0.40476	1.03	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000014	T	0.64821	0.2633	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.69168	-0.5216	10	0.62326	D	0.03	.	15.5116	0.75786	0.0:1.0:0.0:0.0	.	414	Q9H7Y0	CX036_HUMAN	T	414	ENSP00000381086:R414T	ENSP00000381086:R414T	R	-	2	0	CXorf36	44895902	1.000000	0.71417	0.997000	0.53966	0.565000	0.35776	2.355000	0.44107	2.017000	0.59298	0.594000	0.82650	AGA		0.537	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056333.2		NM_024689		96	11	0	0	0	1	0	96	11		
RGAG4	340526	broad.mit.edu	37	X	71350506	71350506	+	Silent	SNP	G	G	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:71350506G>T	ENST00000545866.1	-	1	1252	c.885C>A	c.(883-885)gcC>gcA	p.A295A	RGAG4_ENST00000609883.1_Silent_p.A295A|NHSL2_ENST00000540800.1_Intron|NHSL2_ENST00000373677.1_5'Flank	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	295										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CATCCAGGTCGGCCATTTCTG	0.493																																						uc010nlh.1		NaN																	0				ovary(2)|skin(1)	3						c.(883-885)GCC>GCA		retrotransposon gag domain containing 4							113.0	108.0	110.0					X																	71350506		1897	4108	6005	SO:0001819	synonymous_variant	340526							g.chrX:71350506G>T	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.885C>A	X.37:g.71350506G>T						NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank	p.A295A	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN			1	1246	-	Renal(35;0.156)		295					A7E2W7|Q8NCM4|Q9NPX1	Silent	SNP	ENST00000545866.1	37	c.885C>A	CCDS55446.1																																																																																				0.493	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1		NM_001024455		127	7	1	0	6.60522e-78	1	7.10351e-78	127	7		
DCAF12L2	340578	broad.mit.edu	37	X	125299171	125299171	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:125299171C>T	ENST00000360028.2	-	1	763	c.737G>A	c.(736-738)cGt>cAt	p.R246H	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R246H			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	246										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ATCCCTCGGACGGATGTGGGC	0.647																																						uc004euk.1		NaN																	0				lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(736-738)CGT>CAT		DDB1 and CUL4 associated factor 12-like 2							33.0	36.0	35.0					X																	125299171		2203	4298	6501	SO:0001583	missense	340578							g.chrX:125299171C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.737G>A	X.37:g.125299171C>T	ENSP00000353128:p.Arg246His						p.R246H	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	764	-			246					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.737G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	6.075	0.382091	0.11524	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.18016	2.24;2.24	3.87	-1.21	0.09524	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.186280	0.06407	N	0.719915	T	0.12135	0.0295	L	0.43152	1.355	0.09310	N	1	D	0.53151	0.958	B	0.42188	0.379	T	0.23226	-1.0194	10	0.13470	T	0.59	.	3.4268	0.07413	0.189:0.3404:0.0:0.4706	.	246	Q5VW00	DC122_HUMAN	H	246	ENSP00000441489:R246H;ENSP00000353128:R246H	ENSP00000353128:R246H	R	-	2	0	DCAF12L2	125126852	0.264000	0.24093	0.001000	0.08648	0.106000	0.19336	0.473000	0.22132	-0.455000	0.07054	0.544000	0.68410	CGT		0.647	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1		NM_001013628		29	0	0	0	0	1	0	29	0		
GPR101	83550	broad.mit.edu	37	X	136113144	136113144	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:136113144C>G	ENST00000298110.1	-	1	689	c.690G>C	c.(688-690)aaG>aaC	p.K230N		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					AGCTGTGTCTCTTGACATTGT	0.522																																						uc011mwh.1		NaN																	0				ovary(3)|lung(1)|skin(1)	5						c.(688-690)AAG>AAC		G protein-coupled receptor 101							112.0	99.0	103.0					X																	136113144		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113144C>G	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.690G>C	X.37:g.136113144C>G	ENSP00000298110:p.Lys230Asn						p.K230N	NM_054021	NP_473362	Q96P66	GP101_HUMAN			1	690	-	Acute lymphoblastic leukemia(192;0.000127)		230			Cytoplasmic (Potential).		Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.690G>C	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572348	0.28092	.	.	ENSG00000165370	ENST00000298110	T	0.72615	-0.67	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.225617	0.22829	N	0.055127	T	0.75347	0.3837	L	0.54323	1.7	0.24761	N	0.992925	P	0.43231	0.801	P	0.51550	0.673	T	0.68112	-0.5495	10	0.34782	T	0.22	-12.3058	15.289	0.73852	0.0:1.0:0.0:0.0	.	230	Q96P66	GP101_HUMAN	N	230	ENSP00000298110:K230N	ENSP00000298110:K230N	K	-	3	2	GPR101	135940810	0.926000	0.31397	0.992000	0.48379	0.171000	0.22731	2.819000	0.48049	2.200000	0.70718	0.600000	0.82982	AAG		0.522	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1				114	11	0	0	0	1	0	114	11		
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr11:108788635_108788637delTGA	ENST00000322536.3	+	17	2469_2471	c.2340_2342delTGA	c.(2338-2343)agtgat>agt	p.D788del	DDX10_ENST00000526794.1_In_Frame_Del_p.D788del	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	788					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*																																	uc001pkm.2		NaN		Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|lung(1)|prostate(1)	4						c.(2338-2343)AGTGAT>AGT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10				25,260,77,3902		0,2,0,23,4,0,250,5,67,1781						4.9	1.0			85	14,28,155,8057		0,0,0,14,0,0,28,12,131,3942	no	codingComplex	DDX10	NM_004398.2		0,2,0,37,4,0,278,17,198,5723	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.3867,8.4897,4.4656				39,288,232,11959				SO:0001651	inframe_deletion	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108788635_108788637delTGA	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2340_2342delTGA	11.37:g.108788644_108788646delTGA	ENSP00000314348:p.Asp788del					DDX10_uc001pkl.1_In_Frame_Del_p.D788del	p.D788del	NM_004398	NP_004389	Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	17	2405_2407	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	788					B2RCQ3|Q5BJD8	In_Frame_Del	DEL	ENST00000322536.3	37	c.2340_2342delTGA	CCDS8342.1																																																																																				0.355	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1		NM_004398		7	45	NaN	NaN	NaN	NaN	NaN	7	45	---	---
ADAM21	8747	broad.mit.edu	37	14	70924869	70924871	+	In_Frame_Del	DEL	ATG	ATG	-	rs141326765		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr14:70924869_70924871delATG	ENST00000603540.1	+	2	911_913	c.653_655delATG	c.(652-657)catgat>cat	p.D219del	ADAM21_ENST00000267499.3_In_Frame_Del_p.D219del|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	219	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GTGGTGAACCATGATTTCTTCAT	0.414																																						uc001xmd.2		NaN																	0				pancreas(1)|skin(1)	2						c.(652-657)CATGAT>CAT		ADAM metallopeptidase domain 21 preproprotein																																				SO:0001651	inframe_deletion	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70924869_70924871delATG	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.653_655delATG	14.37:g.70924869_70924871delATG	ENSP00000474385:p.Asp219del						p.D219del	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	1	653_655	+			219			Peptidase M12B.|Extracellular (Potential).		O43507|Q2VPC6|Q32MR0	In_Frame_Del	DEL	ENST00000603540.1	37	c.653_655delATG	CCDS9804.1																																																																																				0.414	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3				7	177	NaN	NaN	NaN	NaN	NaN	7	177	---	---
MSL1	339287	broad.mit.edu	37	17	38289813	38289822	+	Frame_Shift_Del	DEL	AAAGAATTTT	AAAGAATTTT	-			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:38289813_38289822delAAAGAATTTT	ENST00000398532.4	+	7	1898_1907	c.1583_1592delAAAGAATTTT	c.(1582-1593)caaagaattttafs	p.QRIL528fs	MSL1_ENST00000578648.1_Frame_Shift_Del_p.QRIL512fs|MSL1_ENST00000579565.1_Frame_Shift_Del_p.QRIL265fs	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	528					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R328I(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						ATCAGGGAACAAAGAATTTTACAGCGACTG	0.39																																						uc002hub.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(979-990)CAAAGAATTTTAfs		hampin																																				SO:0001589	frameshift_variant	339287				histone H4-K16 acetylation	MSL complex		g.chr17:38289813_38289822delAAAGAATTTT		CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.1583_1592delAAAGAATTTT	17.37:g.38289813_38289822delAAAGAATTTT	ENSP00000381543:p.Gln528fs					MSL1_uc002hua.3_Frame_Shift_Del_p.Q265fs|MSL1_uc002hud.2_Frame_Shift_Del_p.Q67fs	p.Q327fs	NM_001012241	NP_001012241	Q68DK7	MSL1_HUMAN			7	999_1008	+			528_531					Q0VF46|Q69Z03	Frame_Shift_Del	DEL	ENST00000398532.4	37	c.980_989delAAAGAATTTT																																																																																					0.390	MSL1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000447409.2		NM_001012241		9	3	NaN	NaN	NaN	NaN	NaN	9	3	---	---
SCRN2	90507	broad.mit.edu	37	17	45915767	45915767	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr17:45915767delG	ENST00000290216.9	-	7	1113	c.988delC	c.(988-990)cagfs	p.Q330fs	SCRN2_ENST00000584123.1_Frame_Shift_Del_p.Q338fs|SCRN2_ENST00000407215.3_Frame_Shift_Del_p.Q330fs	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	330			Q -> R (in dbSNP:rs34480825).			extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GACAGCACCTGGGGGGCCTGG	0.577																																						uc002imd.2		NaN																	0				ovary(1)	1						c.(988-990)CAGfs		secernin 2 isoform 1							55.0	67.0	63.0					17																	45915767		2201	4295	6496	SO:0001589	frameshift_variant	90507				proteolysis		dipeptidase activity	g.chr17:45915767delG	BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.988delC	17.37:g.45915767delG	ENSP00000290216:p.Gln330fs					SCRN2_uc002imc.2_Frame_Shift_Del_p.Q338fs|SCRN2_uc002imf.2_Frame_Shift_Del_p.Q330fs|SCRN2_uc002ime.2_RNA	p.Q330fs	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN			7	1114	-			330					A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Frame_Shift_Del	DEL	ENST00000290216.9	37	c.988delC	CCDS11519.1																																																																																				0.577	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1		NM_138355		245	59	NaN	NaN	NaN	NaN	NaN	245	59	---	---
LMAN1	3998	broad.mit.edu	37	18	57013193	57013194	+	Frame_Shift_Ins	INS	-	-	T	rs553350987		TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr18:57013193_57013194insT	ENST00000251047.5	-	8	1629_1630	c.912_913insA	c.(910-915)aaagagfs	p.E305fs	LMAN1_ENST00000587940.1_5'Flank	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	305					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TGGAATTCCTCTTTTTTTTTAT	0.455																																						uc002lhz.2		NaN																	0				skin(1)	1	GRCh37	CI992039	LMAN1	I		c.(910-915)AAAGAGfs		lectin, mannose-binding, 1 precursor	Antihemophilic Factor(DB00025)			1,4263		0,1,2131						5.7	1.0			139	0,8254		0,0,4127	no	frameshift	LMAN1	NM_005570.3		0,1,6258	A1A1,A1R,RR		0.0,0.0235,0.0080				1,12517				SO:0001589	frameshift_variant	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57013193_57013194insT	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.913dupA	18.37:g.57013202_57013202dupT	ENSP00000251047:p.Glu305fs						p.K304fs	NM_005570	NP_005561	P49257	LMAN1_HUMAN			8	944_945	-		Colorectal(73;0.0946)	304_305			Lumenal (Potential).		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Frame_Shift_Ins	INS	ENST00000251047.5	37	c.912_913insA	CCDS11974.1																																																																																				0.455	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2		NM_005570		7	134	NaN	NaN	NaN	NaN	NaN	7	134	---	---
ZNF615	284370	broad.mit.edu	37	19	52505446	52505447	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr19:52505446_52505447insC	ENST00000602063.1	-	4	452_453	c.103_104insG	c.(103-105)gacfs	p.D35fs	ZNF615_ENST00000376716.5_Frame_Shift_Ins_p.D35fs|ZNF615_ENST00000598071.1_Frame_Shift_Ins_p.D35fs|ZNF615_ENST00000595114.1_5'Flank|ZNF615_ENST00000391795.3_Frame_Shift_Ins_p.D40fs|ZNF615_ENST00000597747.1_Frame_Shift_Ins_p.D35fs|ZNF615_ENST00000594083.1_Frame_Shift_Ins_p.D35fs			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CAACATCACGTCCCGGTACAGG	0.564																																						uc002pye.1		NaN																	0				ovary(4)|skin(1)	5						c.(103-105)GACfs		zinc finger protein 615																																				SO:0001589	frameshift_variant	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52505446_52505447insC	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.104dupG	19.37:g.52505449_52505449dupC	ENSP00000473089:p.Asp35fs					ZNF615_uc002pyf.1_Frame_Shift_Ins_p.D35fs|ZNF615_uc002pyg.1_5'UTR|ZNF615_uc002pyh.1_Frame_Shift_Ins_p.D35fs|ZNF615_uc010epi.1_Frame_Shift_Ins_p.D31fs|ZNF615_uc010ydg.1_Frame_Shift_Ins_p.D40fs	p.D35fs	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	4	395_396	-		all_neural(266;0.117)	35			KRAB.		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Frame_Shift_Ins	INS	ENST00000602063.1	37	c.103_104insG	CCDS12846.1																																																																																				0.564	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1		NM_198480		204	180	NaN	NaN	NaN	NaN	NaN	204	180	---	---
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:29295647_29295649delTCC	ENST00000331664.5	-	1	1478_1480	c.1479_1481delGGA	c.(1477-1482)gaggaa>gaa	p.493_494EE>E		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	493					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542																																						uc002rmt.1		NaN																	0				skin(1)	1						c.(1477-1482)GAGGAA>GAA		hypothetical protein LOC388939																																				SO:0001651	inframe_deletion	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295647_29295649delTCC		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1479_1481delGGA	2.37:g.29295656_29295658delTCC	ENSP00000332809:p.Glu494del						p.493_494EE>E	NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN			1	1479_1481	-			493_494						In_Frame_Del	DEL	ENST00000331664.5	37	c.1479_1481delGGA	CCDS42669.1																																																																																				0.542	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3		NM_001029883		7	265	NaN	NaN	NaN	NaN	NaN	7	265	---	---
KDM3A	55818	broad.mit.edu	37	2	86693893	86693894	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr2:86693893_86693894insA	ENST00000409556.1	+	11	1771_1772	c.1406_1407insA	c.(1405-1410)ggaaaafs	p.GK469fs	KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000542128.1_Frame_Shift_Ins_p.GK417fs|KDM3A_ENST00000312912.5_Frame_Shift_Ins_p.GK469fs|KDM3A_ENST00000409064.1_Frame_Shift_Ins_p.GK469fs			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	469					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						AACTGTTCAGGAAAAAAGGTAG	0.401																																					NSCLC(96;1150 1523 6936 46253 49736)	uc002sri.3		NaN																	0				breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5						c.(1405-1407)GGAfs		jumonji domain containing 1A																																				SO:0001589	frameshift_variant	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86693893_86693894insA	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.1412dupA	2.37:g.86693899_86693899dupA	ENSP00000386660:p.Gly469fs					KDM3A_uc010ytj.1_Frame_Shift_Ins_p.G469fs|KDM3A_uc010ytk.1_Frame_Shift_Ins_p.G417fs	p.G469fs	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN			10	1733_1734	+			469					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Frame_Shift_Ins	INS	ENST00000409556.1	37	c.1406_1407insA	CCDS1990.1																																																																																				0.401	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2		NM_018433		41	87	NaN	NaN	NaN	NaN	NaN	41	87	---	---
DYNC1LI1	51143	broad.mit.edu	37	3	32571050	32571050	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr3:32571050delT	ENST00000273130.4	-	11	1391	c.1288delA	c.(1288-1290)attfs	p.I430fs	DYNC1LI1_ENST00000432458.2_Frame_Shift_Del_p.I314fs	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	430					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TTTGGATCAATTTTTTTTGAC	0.398																																						uc003cfb.3		NaN																	0				ovary(1)	1						c.(1288-1290)ATTfs		dynein, cytoplasmic 1, light intermediate chain							67.0	64.0	65.0					3																	32571050		2203	4300	6503	SO:0001589	frameshift_variant	51143				cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity	g.chr3:32571050delT	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.1288delA	3.37:g.32571050delT	ENSP00000273130:p.Ile430fs					DYNC1LI1_uc011axh.1_Frame_Shift_Del_p.I314fs	p.I430fs	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN			11	1376	-			430					A2RRG7|Q53HC8|Q53HK7	Frame_Shift_Del	DEL	ENST00000273130.4	37	c.1288delA	CCDS2654.1																																																																																				0.398	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1		NM_016141		8	78	NaN	NaN	NaN	NaN	NaN	8	78	---	---
ZNF608	57507	broad.mit.edu	37	5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)gagdel	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522																																						uc003ktq.1		NaN																	0				skin(3)|ovary(2)|lung(1)	6						c.(868-870)GAGdel		zinc finger protein 608																																				SO:0001651	inframe_deletion	57507					intracellular	zinc ion binding	g.chr5:124079813_124079815delCTC	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.868_870delGAG	5.37:g.124079822_124079824delCTC	ENSP00000307746:p.Glu290del					ZNF608_uc003ktr.1_RNA|ZNF608_uc003kts.1_In_Frame_Del_p.E290del|ZNF608_uc003ktt.1_In_Frame_Del_p.E290del	p.E290del	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	1	991_993	-		all_cancers(142;0.186)|Prostate(80;0.081)	290			Potential.		A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	In_Frame_Del	DEL	ENST00000306315.5	37	c.868_870delGAG	CCDS34219.1																																																																																				0.522	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1		XM_114432		11	339	NaN	NaN	NaN	NaN	NaN	11	339	---	---
ABHD16A	7920	broad.mit.edu	37	6	31660894	31660894	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chr6:31660894delC	ENST00000395952.3	-	7	698	c.536delG	c.(535-537)ggtfs	p.G179fs	ABHD16A_ENST00000538874.1_Frame_Shift_Del_p.V81fs|ABHD16A_ENST00000375842.4_5'UTR|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000471644.1_5'Flank|ABHD16A_ENST00000440843.2_Frame_Shift_Del_p.G146fs	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	179						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CAGGGCCACACCCCGGCGGGA	0.622																																						uc003nvy.1		NaN																	0					0						c.(535-537)GGTfs		HLA-B associated transcript 5							37.0	38.0	38.0					6																	31660894		2203	4300	6503	SO:0001589	frameshift_variant	7920					integral to membrane	hydrolase activity|protein binding	g.chr6:31660894delC	AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"""Abhydrolase domain containing"""	13921	protein-coding gene	gene with protein product		142620	"""HLA-B associated transcript 5"""	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.536delG	6.37:g.31660894delC	ENSP00000379282:p.Gly179fs					BAT5_uc003nvx.1_5'UTR|BAT5_uc011dny.1_Frame_Shift_Del_p.G146fs|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_5'UTR|BAT5_uc010jtc.1_RNA|BAT5_uc011doa.1_Frame_Shift_Del_p.V81fs	p.G179fs	NM_021160	NP_066983	O95870	ABHGA_HUMAN			7	566	-			179					A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Frame_Shift_Del	DEL	ENST00000395952.3	37	c.536delG	CCDS4713.1																																																																																				0.622	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076342.4				24	66	NaN	NaN	NaN	NaN	NaN	24	66	---	---
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BT-A3PH-01A-11D-A21Z-08	TCGA-BT-A3PH-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda1a403-16b6-487c-a82a-c377d1d0f89d	f7ffcce9-2a24-4abe-8f8c-b9ba6a770803	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545																																						uc004eoc.2		NaN																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(1771-1773)GGCfs		insulin receptor substrate 4				32,3681		0,19,13,1569,524						4.0	0.4			181	25,6453		0,7,18,2347,1752	no	frameshift	IRS4	NM_003604.2		0,26,31,3916,2276	A1A1,A1R,A1,RR,R		0.3859,0.8618,0.5593				57,10134				SO:0001589	frameshift_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977802_107977803insC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1773dupG	X.37:g.107977810_107977810dupC	ENSP00000361202:p.Gly591fs						p.G591fs	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	1805_1806	-			591						Frame_Shift_Ins	INS	ENST00000372129.2	37	c.1772_1773insG	CCDS14544.1																																																																																				0.545	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1		NM_003604		8	409	NaN	NaN	NaN	NaN	NaN	8	409	---	---
