#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
SAMD11	148398	broad.mit.edu	37	1	865617	865617	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:865617C>G	ENST00000342066.3	+	3	238	c.155C>G	c.(154-156)tCt>tGt	p.S52C	AL645608.1_ENST00000598827.1_Missense_Mutation_p.R42T	NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	52					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CCCAGCTTCTCTGCCAGCGAT	0.657																																						uc001abw.1		NaN																	0					0						c.(154-156)TCT>TGT		sterile alpha motif domain containing 11							26.0	28.0	27.0					1																	865617		2195	4298	6493	SO:0001583	missense	148398					nucleus		g.chr1:865617C>G	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"""Sterile alpha motif (SAM) domain containing"""	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.155C>G	1.37:g.865617C>G	ENSP00000342313:p.Ser52Cys					SAMD11_uc001abv.1_Missense_Mutation_p.S52C	p.S52C	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	3	235	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-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)	52					A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Missense_Mutation	SNP	ENST00000342066.3	37	c.155C>G	CCDS2.2	.	.	.	.	.	.	.	.	.	.	c	6.119	0.390199	0.11581	.	.	ENSG00000187634	ENST00000420190;ENST00000437963;ENST00000342066	.	.	.	4.39	-0.297	0.12820	.	0.691049	0.12794	N	0.438628	T	0.22475	0.0542	N	0.14661	0.345	0.27865	N	0.940244	B	0.17465	0.022	B	0.12837	0.008	T	0.15896	-1.0421	9	0.87932	D	0	-0.1912	5.2986	0.15766	0.0:0.5676:0.1428:0.2896	.	52	Q96NU1	SAM11_HUMAN	C	52	.	ENSP00000342313:S52C	S	+	2	0	SAMD11	855480	0.962000	0.33011	0.007000	0.13788	0.144000	0.21451	2.128000	0.42045	-0.246000	0.09611	-0.453000	0.05500	TCT		0.657	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2		NM_152486		6	20	0	0	0	0.001984	0	6	20		
TAS1R1	80835	broad.mit.edu	37	1	6639125	6639125	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:6639125C>G	ENST00000333172.6	+	6	2200	c.2007C>G	c.(2005-2007)ttC>ttG	p.F669L	ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Missense_Mutation_p.F415L	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	669					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TACCTACATTCTACCACGCCT	0.522																																						uc001ant.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2005-2007)TTC>TTG		sweet taste receptor T1r isoform b							137.0	141.0	139.0					1																	6639125		2203	4300	6503	SO:0001583	missense	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6639125C>G		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.2007C>G	1.37:g.6639125C>G	ENSP00000331867:p.Phe669Leu					TAS1R1_uc001anu.2_Missense_Mutation_p.F415L|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	p.F669L	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	2007	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	669			Cytoplasmic (Potential).		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	c.2007C>G	CCDS81.1	.	.	.	.	.	.	.	.	.	.	C	0.568	-0.842308	0.02671	.	.	ENSG00000173662	ENST00000333172;ENST00000351136	D;D	0.86956	-2.19;-2.19	5.37	4.45	0.53987	GPCR, family 3, C-terminal (2);	0.487073	0.23307	N	0.049608	T	0.77844	0.4191	L	0.27053	0.805	0.80722	D	1	B;B	0.20887	0.049;0.002	B;B	0.20184	0.028;0.007	T	0.71441	-0.4592	10	0.23302	T	0.38	.	10.7636	0.46279	0.0:0.7958:0.1301:0.0741	.	415;669	Q7RTX1-2;Q7RTX1	.;TS1R1_HUMAN	L	669;415	ENSP00000331867:F669L;ENSP00000312558:F415L	ENSP00000331867:F669L	F	+	3	2	TAS1R1	6561712	0.166000	0.22962	0.987000	0.45799	0.025000	0.11179	1.214000	0.32419	2.505000	0.84491	0.655000	0.94253	TTC		0.522	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1				37	83	0	0	0	0.009718	0	37	83		
TAS1R1	80835	broad.mit.edu	37	1	6639332	6639332	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:6639332C>T	ENST00000333172.6	+	6	2407	c.2214C>T	c.(2212-2214)ctC>ctT	p.L738L	ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Silent_p.L484L	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	738					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		ATGGCCTCCTCTCCATCAGTG	0.542																																						uc001ant.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2212-2214)CTC>CTT		sweet taste receptor T1r isoform b							170.0	136.0	148.0					1																	6639332		2203	4300	6503	SO:0001819	synonymous_variant	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6639332C>T		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.2214C>T	1.37:g.6639332C>T						TAS1R1_uc001anu.2_Silent_p.L484L|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	p.L738L	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	2214	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	738			Helical; Name=5; (Potential).		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Silent	SNP	ENST00000333172.6	37	c.2214C>T	CCDS81.1																																																																																				0.542	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1				18	48	0	0	0	0.006122	0	18	48		
TAS1R1	80835	broad.mit.edu	37	1	6639338	6639338	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:6639338C>T	ENST00000333172.6	+	6	2413	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Silent_p.I486I	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	740					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TCCTCTCCATCAGTGCCTTTG	0.547																																						uc001ant.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2218-2220)ATC>ATT		sweet taste receptor T1r isoform b							171.0	138.0	150.0					1																	6639338		2203	4300	6503	SO:0001819	synonymous_variant	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6639338C>T		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.2220C>T	1.37:g.6639338C>T						TAS1R1_uc001anu.2_Silent_p.I486I|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_3'UTR|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	p.I740I	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	2220	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	740			Helical; Name=5; (Potential).		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Silent	SNP	ENST00000333172.6	37	c.2220C>T	CCDS81.1																																																																																				0.547	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1				18	52	0	0	0	0.00499	0	18	52		
PTCHD2	57540	broad.mit.edu	37	1	11561856	11561856	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:11561856G>A	ENST00000294484.6	+	2	945	c.807G>A	c.(805-807)acG>acA	p.T269T	PTCHD2_ENST00000389575.3_Silent_p.T269T	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	269					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-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)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACACTCAGACGCACGCGCACT	0.677																																						uc001ash.3		NaN																	0				skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(805-807)ACG>ACA		patched domain containing 2							14.0	15.0	15.0					1																	11561856		2021	4162	6183	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11561856G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.807G>A	1.37:g.11561856G>A						PTCHD2_uc001asi.1_Silent_p.T269T	p.T269T	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	945	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-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)	269			Extracellular (Potential).		Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.807G>A	CCDS41247.1																																																																																				0.677	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2		XM_052561		12	20	0	0	0	0.001368	0	12	20		
LHX8	431707	broad.mit.edu	37	1	75609605	75609605	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:75609605G>A	ENST00000294638.5	+	7	1350	c.686G>A	c.(685-687)cGg>cAg	p.R229Q	LHX8_ENST00000356261.3_Missense_Mutation_p.R219Q	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	229					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						AAAAGAGCTCGGACCAGCTTT	0.403																																						uc001dgo.2		NaN																	0				ovary(3)	3						c.(685-687)CGG>CAG		LIM homeobox 8							103.0	99.0	100.0					1																	75609605		2203	4300	6503	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75609605G>A	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.686G>A	1.37:g.75609605G>A	ENSP00000294638:p.Arg229Gln					LHX8_uc001dgq.2_Missense_Mutation_p.R168Q	p.R229Q	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN			7	1350	+			229			Homeobox.		E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.686G>A	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	35	5.560902	0.96527	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.99150	-5.49;-5.49	5.63	5.63	0.86233	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99554	0.9840	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98452	1.0592	10	0.87932	D	0	.	20.0401	0.97581	0.0:0.0:1.0:0.0	.	229	Q68G74	LHX8_HUMAN	Q	229;219	ENSP00000294638:R229Q;ENSP00000348597:R219Q	ENSP00000294638:R229Q	R	+	2	0	LHX8	75382193	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.805000	0.96524	0.655000	0.94253	CGG		0.403	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1		NM_001001933		14	37	0	0	0	0.001855	0	14	37		
ODF2L	57489	broad.mit.edu	37	1	86842058	86842058	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:86842058A>G	ENST00000359242.3	-	8	949	c.668T>C	c.(667-669)aTg>aCg	p.M223T	ODF2L_ENST00000524695.1_5'Flank|ODF2L_ENST00000294678.2_Missense_Mutation_p.M223T|ODF2L_ENST00000394731.1_Missense_Mutation_p.M92T|ODF2L_ENST00000370566.3_Missense_Mutation_p.M223T|ODF2L_ENST00000317336.7_Missense_Mutation_p.M223T|ODF2L_ENST00000370567.1_Missense_Mutation_p.M223T	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	223						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		ATTCTTATTCATTCTTGATTG	0.313																																						uc001dll.1		NaN																	0				ovary(1)	1						c.(667-669)ATG>ACG		outer dense fiber of sperm tails 2-like isoform							147.0	136.0	140.0					1																	86842058		2202	4299	6501	SO:0001583	missense	57489					centrosome		g.chr1:86842058A>G		CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.668T>C	1.37:g.86842058A>G	ENSP00000359600:p.Met223Thr					ODF2L_uc001dlm.1_Missense_Mutation_p.M223T|ODF2L_uc001dln.2_Missense_Mutation_p.M223T|ODF2L_uc001dlo.2_Missense_Mutation_p.M92T|ODF2L_uc001dlp.2_Missense_Mutation_p.M223T|ODF2L_uc010osg.1_Missense_Mutation_p.M223T|ODF2L_uc001dlq.1_Missense_Mutation_p.M53T|ODF2L_uc009wcr.1_Missense_Mutation_p.M92T	p.M223T	NM_020729	NP_065780	Q9ULJ1	ODF2L_HUMAN		all cancers(265;0.0313)|Epithelial(280;0.0611)	8	1008	-			223					A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	ENST00000359242.3	37	c.668T>C	CCDS41354.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.022|0.022	-1.417806|-1.417806	0.01136|0.01136	.|.	.|.	ENSG00000122417|ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000460698;ENST00000317336;ENST00000370567;ENST00000394731;ENST00000457680;ENST00000294678;ENST00000479890|ENST00000459999	T;T;T;T;T;T;T;T|.	0.26957|.	2.05;2.05;2.35;2.05;2.06;2.06;2.05;1.7|.	5.55|5.55	-2.72|-2.72	0.05968|0.05968	.|.	0.504023|.	0.24154|.	N|.	0.041048|.	T|.	0.07143|.	0.0181|.	N|N	0.25647|0.25647	0.755|0.755	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B|.	0.09022|.	0.0;0.001;0.001;0.0;0.0;0.002|.	B;B;B;B;B;B|.	0.08055|.	0.0;0.003;0.001;0.001;0.002;0.001|.	T|.	0.34601|.	-0.9822|.	10|.	0.22706|.	T|.	0.39|.	-0.8776|-0.8776	1.6888|1.6888	0.02847|0.02847	0.2149:0.0834:0.4052:0.2965|0.2149:0.0834:0.4052:0.2965	.|.	223;223;223;223;223;223|.	B4E037;B4DZ83;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1|.	.;.;.;.;.;ODF2L_HUMAN|.	T|R	223;223;223;99;223;223;92;53;223;53|72	ENSP00000359597:M223T;ENSP00000359600:M223T;ENSP00000433092:M99T;ENSP00000320165:M223T;ENSP00000359598:M223T;ENSP00000378219:M92T;ENSP00000294678:M223T;ENSP00000432834:M53T|.	ENSP00000294678:M223T|.	M|X	-|-	2|1	0|0	ODF2L|ODF2L	86614646|86614646	0.000000|0.000000	0.05858|0.05858	0.007000|0.007000	0.13788|0.13788	0.083000|0.083000	0.17756|0.17756	0.062000|0.062000	0.14389|0.14389	-0.248000|-0.248000	0.09583|0.09583	0.533000|0.533000	0.62120|0.62120	ATG|TGA		0.313	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2				11	25	0	0	0	0.001368	0	11	25		
KIAA1324	57535	broad.mit.edu	37	1	109732234	109732234	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:109732234C>T	ENST00000369939.3	+	11	1552	c.1369C>T	c.(1369-1371)Cac>Tac	p.H457Y	KIAA1324_ENST00000529753.1_Missense_Mutation_p.H370Y|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	457					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GGCTGGTGATCACATTTACAC	0.517																																						uc001dwq.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5						c.(1369-1371)CAC>TAC		hypothetical protein LOC57535 precursor							125.0	116.0	119.0					1																	109732234		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109732234C>T	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.1369C>T	1.37:g.109732234C>T	ENSP00000358955:p.His457Tyr					KIAA1324_uc009wex.1_Missense_Mutation_p.H407Y|KIAA1324_uc009wey.2_Missense_Mutation_p.H370Y|KIAA1324_uc010ovg.1_Missense_Mutation_p.H355Y|KIAA1324_uc001dwr.2_Missense_Mutation_p.H107Y	p.H457Y	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	12	1505	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	457			Extracellular (Potential).		Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.1369C>T	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365499	0.24684	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.20598	2.06;2.06;2.06	5.09	2.01	0.26516	Growth factor, receptor (1);	0.221923	0.48767	N	0.000178	T	0.03695	0.0105	N	0.12961	0.28	0.36816	D	0.886132	B;B;B;B	0.12013	0.0;0.005;0.0;0.0	B;B;B;B	0.11329	0.001;0.006;0.0;0.0	T	0.31998	-0.9923	10	0.29301	T	0.29	-16.8505	7.2156	0.25957	0.0:0.5214:0.0:0.4786	.	457;370;457;457	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	Y	457;407;370	ENSP00000358955:H457Y;ENSP00000393964:H407Y;ENSP00000434595:H370Y	ENSP00000358955:H457Y	H	+	1	0	KIAA1324	109533757	0.655000	0.27376	0.997000	0.53966	0.804000	0.45430	0.964000	0.29306	0.246000	0.21394	-0.291000	0.09656	CAC		0.517	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2		NM_020775		15	21	0	0	0	0.00499	0	15	21		
DDX20	11218	broad.mit.edu	37	1	112308378	112308378	+	Silent	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:112308378G>C	ENST00000369702.4	+	11	1952	c.1332G>C	c.(1330-1332)ctG>ctC	p.L444L	DDX20_ENST00000475700.1_Silent_p.L52L|DDX20_ENST00000536167.1_3'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	444	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCTGGTCTGATGGAAGAAT	0.353																																						uc001ebs.2		NaN																	0				lung(1)|kidney(1)	2						c.(1330-1332)CTG>CTC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 20							130.0	135.0	133.0					1																	112308378		2203	4300	6503	SO:0001819	synonymous_variant	11218				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	g.chr1:112308378G>C	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.1332G>C	1.37:g.112308378G>C						DDX20_uc010owf.1_Silent_p.L206L|DDX20_uc001ebt.2_Silent_p.L52L	p.L444L	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	1689	+		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)	444			Helicase C-terminal.		B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Silent	SNP	ENST00000369702.4	37	c.1332G>C	CCDS842.1																																																																																				0.353	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2		NM_007204		38	74	0	0	0	0.004878	0	38	74		
BCL9	607	broad.mit.edu	37	1	147090999	147090999	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:147090999G>C	ENST00000234739.3	+	8	1778	c.1038G>C	c.(1036-1038)gaG>gaC	p.E346D		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	346	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CACTGGGAGAGAATCCCGATG	0.577			T	"""IGH@, IGL@"""	B-ALL																																	uc001epq.2		NaN		Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(1036-1038)GAG>GAC		B-cell CLL/lymphoma 9							59.0	69.0	65.0					1																	147090999		2202	4299	6501	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147090999G>C	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1038G>C	1.37:g.147090999G>C	ENSP00000234739:p.Glu346Asp					BCL9_uc010ozr.1_Missense_Mutation_p.E272D	p.E346D	NM_004326	NP_004317	O00512	BCL9_HUMAN			8	1778	+	all_hematologic(923;0.115)		346			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.1038G>C	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	1.992	-0.431611	0.04669	.	.	ENSG00000116128	ENST00000234739	T	0.55588	0.51	5.46	5.46	0.80206	.	0.099352	0.64402	D	0.000002	T	0.22513	0.0543	L	0.36672	1.1	0.35848	D	0.826543	B;B	0.15473	0.013;0.013	B;B	0.13407	0.009;0.009	T	0.05354	-1.0890	10	0.13853	T	0.58	-18.9988	10.0051	0.41953	0.1471:0.0:0.8529:0.0	.	346;346	Q1JQ81;O00512	.;BCL9_HUMAN	D	346	ENSP00000234739:E346D	ENSP00000234739:E346D	E	+	3	2	BCL9	145557623	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	0.674000	0.25218	2.857000	0.98124	0.650000	0.86243	GAG		0.577	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1		NM_004326		74	167	0	0	0	0.00361	0	74	167		
HAX1	10456	broad.mit.edu	37	1	154245817	154245817	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:154245817G>A	ENST00000328703.7	+	2	272	c.59G>A	c.(58-60)aGa>aAa	p.R20K	HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_Missense_Mutation_p.R20K|HAX1_ENST00000457918.2_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	20	Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTCAGCCACAGAGATCCCTTT	0.493									Kostmann syndrome																													uc001fes.2		NaN																	0					0						c.(58-60)AGA>AAA		HCLS1 associated protein X-1 isoform a							71.0	72.0	71.0					1																	154245817		2203	4300	6503	SO:0001583	missense	10456	Kostmann_syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154245817G>A	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.59G>A	1.37:g.154245817G>A	ENSP00000329002:p.Arg20Lys					HAX1_uc001fet.2_Intron|HAX1_uc010peo.1_Missense_Mutation_p.R20K|HAX1_uc009wou.2_5'UTR|HAX1_uc009wov.2_5'UTR	p.R20K	NM_006118	NP_006109	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	220	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		20			Required for localization in mitochondria (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Missense_Mutation	SNP	ENST00000328703.7	37	c.59G>A	CCDS1064.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315299	0.81358	.	.	ENSG00000143575	ENST00000328703;ENST00000483970;ENST00000435087	T;T;T	0.43688	0.94;0.94;0.94	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.61185	0.2327	M	0.80847	2.515	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.76071	0.987;0.987	T	0.63143	-0.6703	10	0.56958	D	0.05	-16.3032	16.6433	0.85138	0.0:0.0:1.0:0.0	.	20;20	O00165-2;O00165	.;HAX1_HUMAN	K	20	ENSP00000329002:R20K;ENSP00000435088:R20K;ENSP00000394920:R20K	ENSP00000329002:R20K	R	+	2	0	HAX1	152512441	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.600000	0.74132	2.776000	0.95493	0.655000	0.94253	AGA		0.493	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1		NM_006118		31	114	0	0	0	0.009535	0	31	114		
CCDC181	57821	broad.mit.edu	37	1	169390861	169390861	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:169390861C>G	ENST00000367806.3	-	3	960	c.808G>C	c.(808-810)Gaa>Caa	p.E270Q	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Missense_Mutation_p.E270Q|CCDC181_ENST00000545005.1_Missense_Mutation_p.E270Q	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	270						nucleus (GO:0005634)											GTAGAATCTTCTTTCTTGGTG	0.468																																						uc001gga.1		NaN																	0					0						c.(808-810)GAA>CAA		hypothetical protein LOC57821							150.0	144.0	146.0					1																	169390861		2203	4300	6503	SO:0001583	missense	57821							g.chr1:169390861C>G	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.808G>C	1.37:g.169390861C>G	ENSP00000356780:p.Glu270Gln					C1orf114_uc001gfz.1_Missense_Mutation_p.E270Q|C1orf114_uc009wvq.1_Missense_Mutation_p.E270Q|C1orf114_uc001ggb.2_Missense_Mutation_p.E270Q|C1orf114_uc001ggc.1_Missense_Mutation_p.E270Q	p.E270Q	NM_021179	NP_067002	Q5TID7	CA114_HUMAN			3	976	-	all_hematologic(923;0.208)		270					O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	ENST00000367806.3	37	c.808G>C		.	.	.	.	.	.	.	.	.	.	C	14.76	2.630232	0.46944	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.24538	1.87;1.87;1.87;1.85	5.17	4.26	0.50523	.	0.305751	0.31784	N	0.007064	T	0.29321	0.0730	M	0.64997	1.995	0.34828	D	0.739388	P;D;D	0.67145	0.944;0.996;0.996	P;P;P	0.59357	0.646;0.856;0.856	T	0.08953	-1.0697	9	0.35671	T	0.21	-11.5579	13.3213	0.60434	0.0:0.9238:0.0:0.0762	.	270;270;270	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	Q	270	ENSP00000356779:E270Q;ENSP00000356780:E270Q;ENSP00000442297:E270Q;ENSP00000411000:E270Q	ENSP00000356779:E270Q	E	-	1	0	C1orf114	167657485	1.000000	0.71417	0.972000	0.41901	0.662000	0.39071	4.062000	0.57492	1.174000	0.42811	0.455000	0.32223	GAA		0.468	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1		NM_021179		50	170	0	0	0	0.00361	0	50	170		
METTL13	51603	broad.mit.edu	37	1	171753057	171753057	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:171753057C>T	ENST00000361735.3	+	2	597	c.331C>T	c.(331-333)Cct>Tct	p.P111S	METTL13_ENST00000367737.5_Missense_Mutation_p.P111S|METTL13_ENST00000362019.3_Missense_Mutation_p.P25S|METTL13_ENST00000458517.1_Missense_Mutation_p.P110S	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	111							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GATGGAGTTTCCTGATGCCTC	0.527																																						uc001ghz.2		NaN																	0				kidney(1)	1						c.(331-333)CCT>TCT		CGI-01 protein isoform 1							138.0	122.0	127.0					1																	171753057		2203	4300	6503	SO:0001583	missense	51603						methyltransferase activity|protein binding	g.chr1:171753057C>T	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.331C>T	1.37:g.171753057C>T	ENSP00000354920:p.Pro111Ser					METTL13_uc001gia.2_Missense_Mutation_p.P25S|METTL13_uc001gib.2_Missense_Mutation_p.P111S|METTL13_uc010pml.1_Missense_Mutation_p.P110S	p.P111S	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN			2	678	+			111					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	c.331C>T	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239837	0.58995	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32	5.33	4.41	0.53225	Methyltransferase type 11 (1);	0.310205	0.34853	N	0.003636	T	0.38957	0.1060	L	0.43554	1.36	0.33904	D	0.63883	P;B;P	0.50528	0.768;0.137;0.936	P;B;P	0.45195	0.456;0.085;0.473	T	0.32375	-0.9909	10	0.35671	T	0.21	-1.6317	14.2272	0.65868	0.0:0.7159:0.2841:0.0	.	110;111;111	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	S	110;25;111;111;28;25	ENSP00000401955:P110S;ENSP00000355393:P25S;ENSP00000356711:P111S;ENSP00000354920:P111S;ENSP00000356710:P28S	ENSP00000341732:P25S	P	+	1	0	METTL13	170019680	1.000000	0.71417	0.905000	0.35620	0.975000	0.68041	3.919000	0.56439	1.198000	0.43158	0.655000	0.94253	CCT		0.527	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5		NM_014955		21	75	0	0	0	0.008871	0	21	75		
RC3H1	149041	broad.mit.edu	37	1	173930937	173930937	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:173930937C>G	ENST00000367696.2	-	12	2479	c.2128G>C	c.(2128-2130)Gaa>Caa	p.E710Q	RC3H1_ENST00000367694.2_Missense_Mutation_p.E710Q|RC3H1_ENST00000258349.4_Missense_Mutation_p.E710Q			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	710	Pro-rich.				B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TGGTATCTTTCTCTGGATTCT	0.438																																						uc001gju.3		NaN																	0				ovary(2)	2						c.(2128-2130)GAA>CAA		roquin							282.0	275.0	278.0					1																	173930937		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173930937C>G	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2128G>C	1.37:g.173930937C>G	ENSP00000356669:p.Glu710Gln					RC3H1_uc010pms.1_Missense_Mutation_p.E710Q|RC3H1_uc001gjv.2_Missense_Mutation_p.E710Q|RC3H1_uc010pmt.1_Missense_Mutation_p.E710Q	p.E710Q	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN			11	2215	-			710			Pro-rich.		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.2128G>C	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.683269	0.68157	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.51574	0.7;0.7;0.7	5.78	5.78	0.91487	.	0.091310	0.64402	D	0.000001	T	0.36524	0.0970	L	0.43152	1.355	0.40876	D	0.983956	B;B;B;P	0.34562	0.022;0.022;0.037;0.457	B;B;B;B	0.38985	0.005;0.005;0.012;0.287	T	0.16837	-1.0389	10	0.36615	T	0.2	-18.5947	20.0044	0.97430	0.0:1.0:0.0:0.0	.	710;710;710;710	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	Q	710	ENSP00000356669:E710Q;ENSP00000258349:E710Q;ENSP00000356667:E710Q	ENSP00000258349:E710Q	E	-	1	0	RC3H1	172197560	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.961000	0.70356	2.714000	0.92807	0.650000	0.86243	GAA		0.438	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2		NM_172071		59	196	0	0	0	0.00361	0	59	196		
LAMC1	3915	broad.mit.edu	37	1	183096408	183096408	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:183096408G>A	ENST00000258341.4	+	17	3249	c.2992G>A	c.(2992-2994)Gat>Aat	p.D998N	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	998	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GTGCAAAGATGATGGTCGCTG	0.433																																						uc001gpy.3		NaN																	0				ovary(3)|large_intestine(1)|kidney(1)	5						c.(2992-2994)GAT>AAT		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						117.0	100.0	106.0					1																	183096408		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183096408G>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2992G>A	1.37:g.183096408G>A	ENSP00000258341:p.Asp998Asn						p.D998N	NM_002293	NP_002284	P11047	LAMC1_HUMAN			17	3249	+			998			Laminin EGF-like 11.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.2992G>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	5.972	0.363263	0.11296	.	.	ENSG00000135862	ENST00000258341	T	0.61158	0.13	5.5	3.63	0.41609	EGF-like, laminin (3);	0.088643	0.85682	N	0.000000	T	0.39759	0.1090	L	0.35288	1.05	0.58432	D	0.999999	B	0.14438	0.01	B	0.15870	0.014	T	0.18304	-1.0341	10	0.06099	T	0.92	.	10.4521	0.44528	0.2124:0.0:0.7876:0.0	.	998	P11047	LAMC1_HUMAN	N	998	ENSP00000258341:D998N	ENSP00000258341:D998N	D	+	1	0	LAMC1	181363031	1.000000	0.71417	0.739000	0.30968	0.285000	0.27093	3.513000	0.53414	1.323000	0.45263	0.561000	0.74099	GAT		0.433	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2		NM_002293		18	54	0	0	0	0.00499	0	18	54		
SWT1	54823	broad.mit.edu	37	1	185130013	185130013	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:185130013C>G	ENST00000367500.4	+	2	205	c.40C>G	c.(40-42)Cag>Gag	p.Q14E	SWT1_ENST00000367501.3_Missense_Mutation_p.Q14E	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	14										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGAGACATCTCAGAGGAAAGA	0.323																																						uc001grg.3		NaN																	0					0						c.(40-42)CAG>GAG		hypothetical protein LOC54823							81.0	84.0	83.0					1																	185130013		2203	4300	6503	SO:0001583	missense	54823							g.chr1:185130013C>G	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.40C>G	1.37:g.185130013C>G	ENSP00000356470:p.Gln14Glu					C1orf26_uc001grh.3_Missense_Mutation_p.Q14E	p.Q14E	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN			2	154	+			14					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.40C>G	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	C	6.966	0.548156	0.13312	.	.	ENSG00000116668	ENST00000367501;ENST00000367500;ENST00000450350	T;T;T	0.48836	0.8;0.8;0.8	5.37	4.46	0.54185	.	0.707160	0.12356	N	0.476084	T	0.38321	0.1036	L	0.50333	1.59	0.25679	N	0.985816	B	0.33694	0.421	B	0.22601	0.04	T	0.20974	-1.0259	10	0.37606	T	0.19	.	9.9355	0.41548	0.0:0.9094:0.0:0.0906	.	14	Q5T5J6	SWT1_HUMAN	E	14	ENSP00000356471:Q14E;ENSP00000356470:Q14E;ENSP00000401413:Q14E	ENSP00000356470:Q14E	Q	+	1	0	SWT1	183396636	0.070000	0.21116	0.727000	0.30756	0.107000	0.19398	0.082000	0.14847	1.505000	0.48720	0.650000	0.86243	CAG		0.323	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1		NM_017673		15	51	0	0	0	0.008871	0	15	51		
CHIT1	1118	broad.mit.edu	37	1	203192777	203192777	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:203192777A>T	ENST00000367229.1	-	5	360	c.326T>A	c.(325-327)aTg>aAg	p.M109K	CHIT1_ENST00000535569.1_Missense_Mutation_p.M100K|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Missense_Mutation_p.M90K	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	109					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CGTGGCTACCATATCTGTGAA	0.542																																						uc001gzn.2		NaN																	0					0						c.(325-327)ATG>AAG		chitotriosidase precursor							131.0	122.0	125.0					1																	203192777		2203	4300	6503	SO:0001583	missense	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203192777A>T	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.326T>A	1.37:g.203192777A>T	ENSP00000356198:p.Met109Lys					FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.M100K	p.M109K	NM_003465	NP_003456	Q13231	CHIT1_HUMAN			5	422	-			109					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	c.326T>A	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.669320	0.67814	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.07327	3.2;3.2;3.2	4.86	4.86	0.63082	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000013	T	0.37571	0.1008	H	0.96239	3.79	0.54753	D	0.999985	D;P	0.56521	0.976;0.662	P;P	0.61328	0.887;0.611	T	0.54596	-0.8270	10	0.87932	D	0	-9.7189	12.4112	0.55468	1.0:0.0:0.0:0.0	.	100;109	G5EA51;Q13231	.;CHIT1_HUMAN	K	109;90;100	ENSP00000356198:M109K;ENSP00000255427:M90K;ENSP00000438078:M100K	ENSP00000255427:M90K	M	-	2	0	CHIT1	201459400	1.000000	0.71417	0.967000	0.41034	0.769000	0.43574	3.480000	0.53172	1.788000	0.52465	0.523000	0.50628	ATG		0.542	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2		NM_003465		51	180	0	0	0	0.00361	0	51	180		
REN	5972	broad.mit.edu	37	1	204125342	204125342	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:204125342G>A	ENST00000272190.8	-	8	952	c.924C>T	c.(922-924)ctC>ctT	p.L308L	REN_ENST00000367195.2_Silent_p.L305L	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	308					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AGGCCTCCATGAGCTTCTCTA	0.562																																						uc001haq.2		NaN																	0				skin(3)|central_nervous_system(1)	4						c.(922-924)CTC>CTT		renin preproprotein	Aliskiren(DB01258)|Remikiren(DB00212)						191.0	187.0	189.0					1																	204125342		2203	4300	6503	SO:0001819	synonymous_variant	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204125342G>A	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.924C>T	1.37:g.204125342G>A							p.L308L	NM_000537	NP_000528	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		8	968	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		308					Q6FI38|Q6T5C2	Silent	SNP	ENST00000272190.8	37	c.924C>T	CCDS30981.1																																																																																				0.562	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1		NM_000537		100	357	0	0	0	0.00361	0	100	357		
DISP1	84976	broad.mit.edu	37	1	223116319	223116319	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:223116319C>T	ENST00000284476.6	+	2	318	c.154C>T	c.(154-156)Cca>Tca	p.P52S	DISP1_ENST00000495684.1_Intron|DISP1_ENST00000360254.2_Missense_Mutation_p.P52S	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	52					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AAAAGTGAGTCCAAATGGATG	0.512																																						uc001hnu.1		NaN																	0					0						c.(154-156)CCA>TCA		dispatched A							197.0	174.0	182.0					1																	223116319		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223116319C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.154C>T	1.37:g.223116319C>T	ENSP00000284476:p.Pro52Ser						p.P52S	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	2	301	+			52					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.154C>T	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.713623	0.48517	.	.	ENSG00000154309	ENST00000360254;ENST00000284476	T;D	0.91740	0.86;-2.9	5.62	5.62	0.85841	.	0.154477	0.43260	D	0.000584	D	0.89914	0.6853	L	0.50333	1.59	0.38074	D	0.93646	B	0.10296	0.003	B	0.06405	0.002	D	0.87522	0.2447	10	0.72032	D	0.01	-13.9337	15.9511	0.79840	0.0:0.865:0.135:0.0	.	52	Q96F81	DISP1_HUMAN	S	52	ENSP00000355848:P52S;ENSP00000284476:P52S	ENSP00000284476:P52S	P	+	1	0	DISP1	221182942	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	1.750000	0.38329	2.652000	0.90054	0.650000	0.86243	CCA		0.512	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1		NM_032890		22	78	0	0	0	0.001882	0	22	78		
C1orf35	79169	broad.mit.edu	37	1	228288840	228288840	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:228288840C>T	ENST00000272139.4	-	8	1018	c.784G>A	c.(784-786)Gag>Aag	p.E262K	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	262				E -> K (in Ref. 1; AAN15215). {ECO:0000305}.			poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				CATCAGGCCTCAGAGCCTCTG	0.627																																						uc001hrx.2		NaN																	0					0						c.(784-786)GAG>AAG		hypothetical protein LOC79169							88.0	88.0	88.0					1																	228288840		2203	4300	6503	SO:0001583	missense	79169							g.chr1:228288840C>T	AY137773	CCDS1566.1	1q42.13	2012-06-25			ENSG00000143793	ENSG00000143793			19032	protein-coding gene	gene with protein product	"""multiple myeloma tumor-associated protein 2"""					12545221	Standard	NM_024319		Approved	MGC4174, MMTAG2	uc001hrx.3	Q9BU76	OTTHUMG00000037793	ENST00000272139.4:c.784G>A	1.37:g.228288840C>T	ENSP00000272139:p.Glu262Lys					C1orf35_uc009xew.2_RNA	p.E262K	NM_024319	NP_077295	Q9BU76	MMTA2_HUMAN			8	878	-		Prostate(94;0.0488)	262	E -> K (in Ref. 1; AAN15215).				Q6P5Y0|Q6ZTZ6|Q6ZWA6|Q8IZH3	Missense_Mutation	SNP	ENST00000272139.4	37	c.784G>A	CCDS1566.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945200	0.34283	.	.	ENSG00000143793	ENST00000272139	.	.	.	2.23	2.23	0.28157	.	0.064580	0.64402	U	0.000014	T	0.16128	0.0388	N	0.08118	0	0.09310	N	1	B	0.21147	0.052	B	0.10450	0.005	T	0.15407	-1.0438	9	0.29301	T	0.29	-5.8751	8.0894	0.30793	0.0:1.0:0.0:0.0	.	262	Q9BU76	MMTA2_HUMAN	K	262	.	ENSP00000272139:E262K	E	-	1	0	C1orf35	226355463	0.039000	0.19947	0.023000	0.16930	0.124000	0.20399	2.450000	0.44943	1.571000	0.49722	0.485000	0.47835	GAG		0.627	C1orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092245.1		NM_024319		44	108	0	0	0	0.002522	0	44	108		
OBSCN	84033	broad.mit.edu	37	1	228556048	228556048	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:228556048C>T	ENST00000422127.1	+	88	19742	c.19698C>T	c.(19696-19698)gtC>gtT	p.V6566V	OBSCN_ENST00000366707.4_Silent_p.V4200V|OBSCN_ENST00000570156.2_Silent_p.V7523V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6566	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)				AGGTCAAGGTCTACATCCAGC	0.622																																						uc009xez.1		NaN																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(19696-19698)GTC>GTT		obscurin, cytoskeletal calmodulin and							24.0	30.0	28.0					1																	228556048		2074	4199	6273	SO:0001819	synonymous_variant	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.chr1:228556048C>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.19698C>T	1.37:g.228556048C>T						OBSCN_uc001hsr.1_Silent_p.V1195V	p.V6566V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			88	19742	+		Prostate(94;0.0405)	6566			Protein kinase 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.19698C>T	CCDS58065.1																																																																																				0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_052843		4	9	0	0	0	0.009096	0	4	9		
EXOC8	149371	broad.mit.edu	37	1	231473425	231473425	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:231473425C>G	ENST00000360394.2	-	1	153	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	SPRTN_ENST00000391858.4_5'UTR|SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000008440.9_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.E19Q	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	23					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				AGCCGCGCCTCAAAACCCCCT	0.667																																						uc001huq.2		NaN																	0				skin(1)	1						c.(67-69)GAG>CAG		exocyst complex 84-kDa subunit							28.0	32.0	31.0					1																	231473425		2166	4247	6413	SO:0001583	missense	149371				exocytosis|protein transport	growth cone|nucleus	protein binding	g.chr1:231473425C>G	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.67G>C	1.37:g.231473425C>G	ENSP00000353564:p.Glu23Gln					C1orf124_uc001hur.2_5'Flank|C1orf124_uc001hus.2_5'Flank|C1orf124_uc001hut.2_5'Flank	p.E23Q	NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN			1	154	-	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	23					B3KU33|Q5TE82	Missense_Mutation	SNP	ENST00000360394.2	37	c.67G>C	CCDS1593.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499371	0.44455	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.76839	-1.05;-1.05	5.33	5.33	0.75918	.	0.183258	0.46442	D	0.000282	T	0.55033	0.1895	N	0.02011	-0.69	0.80722	D	1	B	0.14805	0.011	B	0.11329	0.006	T	0.55211	-0.8176	10	0.45353	T	0.12	-15.5425	14.4382	0.67296	0.0:0.8527:0.1473:0.0	.	23	Q8IYI6	EXOC8_HUMAN	Q	23;19	ENSP00000353564:E23Q;ENSP00000355605:E19Q	ENSP00000353564:E23Q	E	-	1	0	EXOC8	229540048	1.000000	0.71417	0.997000	0.53966	0.237000	0.25408	4.366000	0.59492	2.775000	0.95449	0.650000	0.86243	GAG		0.667	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_175876		35	109	0	0	0	0.004878	0	35	109		
GAD2	2572	broad.mit.edu	37	10	26558051	26558051	+	Silent	SNP	G	G	T	rs149629039		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:26558051G>T	ENST00000376261.3	+	9	1427	c.924G>T	c.(922-924)ggG>ggT	p.G308G	GAD2_ENST00000259271.3_Silent_p.G308G	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	308					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTTCCAGAGGGAAAATGATTC	0.403																																						uc001isp.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(922-924)GGG>GGT		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						68.0	70.0	69.0					10																	26558051		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26558051G>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.924G>T	10.37:g.26558051G>T						GAD2_uc001isq.2_Silent_p.G308G	p.G308G	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			9	1427	+			308					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.924G>T	CCDS7149.1																																																																																				0.403	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1		NM_000818		17	42	1	0	9.16793e-09	0.00499	9.42801e-09	17	42		
ARMC4	55130	broad.mit.edu	37	10	28196616	28196616	+	Silent	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:28196616G>C	ENST00000305242.5	-	17	2678	c.2586C>G	c.(2584-2586)ctC>ctG	p.L862L	ARMC4_ENST00000537576.1_Silent_p.L554L|ARMC4_ENST00000545014.1_Silent_p.L387L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	862					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGCATGGACAGAGTGCCCATG	0.448																																						uc009xky.2		NaN																	0				ovary(4)|skin(2)	6						c.(2584-2586)CTC>CTG		armadillo repeat containing 4							109.0	95.0	100.0					10																	28196616		2203	4300	6503	SO:0001819	synonymous_variant	55130						binding	g.chr10:28196616G>C	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2586C>G	10.37:g.28196616G>C						ARMC4_uc010qds.1_Silent_p.L387L|ARMC4_uc010qdt.1_Silent_p.L554L|ARMC4_uc001itz.2_Silent_p.L862L	p.L862L	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			17	2684	-			862			ARM 6.		A8K906|B7Z7I1|Q9H0C0	Silent	SNP	ENST00000305242.5	37	c.2586C>G	CCDS7157.1																																																																																				0.448	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1		NM_018076		21	37	0	0	0	0.001882	0	21	37		
ANK3	288	broad.mit.edu	37	10	61835134	61835134	+	Silent	SNP	T	T	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:61835134T>A	ENST00000280772.2	-	37	5696	c.5505A>T	c.(5503-5505)gcA>gcT	p.A1835A	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1835	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTTCTTTAATGCTGGTTCTG	0.413																																						uc001jky.2		NaN																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(5503-5505)GCA>GCT		ankyrin 3 isoform 1							139.0	144.0	143.0					10																	61835134		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61835134T>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5505A>T	10.37:g.61835134T>A						ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.A1835A	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	5697	-			1835			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.5505A>T	CCDS7258.1																																																																																				0.413	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987		53	150	0	0	0	0.00361	0	53	150		
CDH23	64072	broad.mit.edu	37	10	73572328	73572328	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:73572328G>C	ENST00000224721.6	+	66	9492	c.9487G>C	c.(9487-9489)Gag>Cag	p.E3163Q	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.E918Q	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3158					calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GAACCTGAGTGAGATCGCCGA	0.642																																						uc001jrx.3		NaN																	0				central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(9472-9474)GAG>CAG		cadherin-like 23 isoform 1 precursor							57.0	63.0	61.0					10																	73572328		2011	4176	6187	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73572328G>C	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.9487G>C	10.37:g.73572328G>C	ENSP00000224721:p.Glu3163Gln					CDH23_uc001jsg.3_Missense_Mutation_p.E918Q|CDH23_uc001jsh.3_Missense_Mutation_p.E918Q|CDH23_uc001jsi.3_Missense_Mutation_p.E918Q|CDH23_uc001jsj.3_Missense_Mutation_p.E55Q|CDH23_uc010qjr.1_Missense_Mutation_p.E55Q	p.E3158Q	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			65	9849	+			3158			Cytoplasmic (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.9472G>C		.	.	.	.	.	.	.	.	.	.	G	25.7	4.665884	0.88251	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.80824	-1.42	5.44	5.44	0.79542	.	0.061549	0.64402	D	0.000004	D	0.85860	0.5795	L	0.36672	1.1	0.58432	D	0.999997	D;D;P;P	0.69078	0.996;0.997;0.791;0.791	P;D;B;B	0.77557	0.892;0.99;0.255;0.255	D	0.85256	0.1047	10	0.48119	T	0.1	.	19.4628	0.94924	0.0:0.0:1.0:0.0	.	55;55;3158;3158	Q5QGS5;Q5QGS6;E9PEX1;Q9H251	.;.;.;CAD23_HUMAN	Q	3163;3158;3161;918	ENSP00000381768:E918Q	ENSP00000224721:E3163Q	E	+	1	0	CDH23	73242334	1.000000	0.71417	0.984000	0.44739	0.908000	0.53690	9.615000	0.98356	2.837000	0.97791	0.655000	0.94253	GAG		0.642	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4		NM_052836		39	72	0	0	0	0.00623	0	39	72		
ENTPD7	57089	broad.mit.edu	37	10	101460767	101460767	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:101460767G>A	ENST00000370489.4	+	11	1551	c.1373G>A	c.(1372-1374)aGa>aAa	p.R458K		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	458						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CTAACTCAGAGATTCAAGAAT	0.443																																						uc001kqa.3		NaN																	0				ovary(1)	1						c.(1372-1374)AGA>AAA		ectonucleoside triphosphate diphosphohydrolase							361.0	322.0	335.0					10																	101460767		2203	4300	6503	SO:0001583	missense	57089					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	g.chr10:101460767G>A	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.1373G>A	10.37:g.101460767G>A	ENSP00000359520:p.Arg458Lys					ENTPD7_uc009xwl.2_Missense_Mutation_p.R460K	p.R458K	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)	11	1551	+		Colorectal(252;0.234)	458			Vesicular (Potential).		B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	37	c.1373G>A	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342320	0.81911	.	.	ENSG00000198018	ENST00000370489	T	0.10668	2.85	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.18299	0.0439	L	0.38175	1.15	0.48087	D	0.999584	D	0.60160	0.987	P	0.60012	0.867	T	0.01500	-1.1339	10	0.05833	T	0.94	-21.7493	18.5342	0.91004	0.0:0.0:1.0:0.0	.	458	Q9NQZ7	ENTP7_HUMAN	K	458	ENSP00000359520:R458K	ENSP00000359520:R458K	R	+	2	0	ENTPD7	101450757	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	9.647000	0.98478	2.715000	0.92844	0.643000	0.83706	AGA		0.443	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2		NM_020354		86	168	0	0	0	0.00361	0	86	168		
DCLRE1A	9937	broad.mit.edu	37	10	115609492	115609492	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:115609492G>A	ENST00000361384.2	-	2	2289	c.1372C>T	c.(1372-1374)Ctt>Ttt	p.L458F	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.L458F	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	458	Nuclear focus formation.				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)		ACTAACGGAAGAGAAACTTGA	0.343								Other identified genes with known or suspected DNA repair function																														uc001law.2		NaN																	0				skin(2)	2						c.(1372-1374)CTT>TTT	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA cross-link repair 1A							65.0	65.0	65.0					10																	115609492		2203	4299	6502	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115609492G>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.1372C>T	10.37:g.115609492G>A	ENSP00000355185:p.Leu458Phe						p.L458F	NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	2	2290	-			458			Nuclear focus formation.		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.1372C>T	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366544	0.41902	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.66815	-0.23;-0.23	5.47	4.57	0.56435	.	0.913476	0.09409	N	0.806138	T	0.60715	0.2290	L	0.52573	1.65	0.09310	N	0.999994	B	0.18741	0.03	B	0.17098	0.017	T	0.50701	-0.8797	10	0.37606	T	0.19	-5.4516	8.7148	0.34405	0.0836:0.1953:0.7211:0.0	.	458	Q6PJP8	DCR1A_HUMAN	F	458	ENSP00000355185:L458F;ENSP00000358311:L458F	ENSP00000355185:L458F	L	-	1	0	DCLRE1A	115599482	0.327000	0.24678	0.158000	0.22627	0.293000	0.27360	2.613000	0.46351	1.309000	0.44985	0.650000	0.86243	CTT		0.343	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1		NM_014881		19	38	0	0	0	0.007413	0	19	38		
DCLRE1A	9937	broad.mit.edu	37	10	115610376	115610376	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:115610376G>C	ENST00000361384.2	-	2	1405	c.488C>G	c.(487-489)tCa>tGa	p.S163*	DCLRE1A_ENST00000369305.1_Nonsense_Mutation_p.S163*|DCLRE1A_ENST00000476112.1_5'Flank	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	163	Nuclear localization region.				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)		AGGAATGGTTGAGGTACACAG	0.408								Other identified genes with known or suspected DNA repair function																														uc001law.2		NaN																	0				skin(2)	2						c.(487-489)TCA>TGA	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA cross-link repair 1A							44.0	43.0	43.0					10																	115610376		2203	4300	6503	SO:0001587	stop_gained	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115610376G>C		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.488C>G	10.37:g.115610376G>C	ENSP00000355185:p.Ser163*						p.S163*	NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	2	1406	-			163			Nuclear localization region.		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Nonsense_Mutation	SNP	ENST00000361384.2	37	c.488C>G	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	G	46	12.757005	0.99693	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.6151	18.7558	0.91832	0.0:0.0:1.0:0.0	.	.	.	.	X	163	.	ENSP00000355185:S163X	S	-	2	0	DCLRE1A	115600366	1.000000	0.71417	0.982000	0.44146	0.959000	0.62525	7.596000	0.82721	2.868000	0.98415	0.557000	0.71058	TCA		0.408	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1		NM_014881		9	20	0	0	0	0.008291	0	9	20		
STK32C	282974	broad.mit.edu	37	10	134059433	134059433	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr10:134059433G>A	ENST00000368625.4	-	2	413	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	STK32C_ENST00000368622.1_5'UTR					serine/threonine kinase 32C											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CCAATGGCCCGAAGGATCTGG	0.627																																						uc001lle.1		NaN																	0				large_intestine(2)|lung(2)|breast(1)	5						c.(289-291)CGG>TGG		serine/threonine kinase 32C							86.0	74.0	78.0					10																	134059433		2203	4300	6503	SO:0001583	missense	282974						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr10:134059433G>A	AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368625.4:c.328C>T	10.37:g.134059433G>A	ENSP00000357614:p.Arg110Trp					STK32C_uc001lld.1_5'UTR|STK32C_uc010quu.1_Missense_Mutation_p.R110W|STK32C_uc009ybc.1_5'UTR|STK32C_uc009ybd.1_5'UTR|STK32C_uc001llc.1_RNA	p.R97W	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)	2	429	-		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)	97			Protein kinase.			Missense_Mutation	SNP	ENST00000368625.4	37	c.289C>T		.	.	.	.	.	.	.	.	.	.	G	8.941	0.965779	0.18583	.	.	ENSG00000165752	ENST00000298630;ENST00000368625;ENST00000368620	T;T	0.27256	1.68;1.68	4.34	2.33	0.28932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.55737	0.1939	M	0.91300	3.195	0.19300	N	0.999976	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.989	T	0.45131	-0.9282	9	0.87932	D	0	.	9.0817	0.36556	0.0:0.0:0.5855:0.4145	.	110;97	B7Z7J1;Q86UX6	.;ST32C_HUMAN	W	97;110;147	ENSP00000298630:R97W;ENSP00000357614:R110W	ENSP00000298630:R97W	R	-	1	2	STK32C	133909423	1.000000	0.71417	0.291000	0.24904	0.941000	0.58515	2.282000	0.43461	0.487000	0.27698	0.655000	0.94253	CGG		0.627	STK32C-201	KNOWN	basic	protein_coding	protein_coding			NM_173575		22	58	0	0	0	0.00333	0	22	58		
B4GALNT4	338707	broad.mit.edu	37	11	376347	376347	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:376347G>A	ENST00000329962.6	+	13	1293	c.1293G>A	c.(1291-1293)ccG>ccA	p.P431P		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	431					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCTCAACCCGGACGGTGAGT	0.617																																						uc001lpb.2		NaN																	0				pancreas(1)	1						c.(1291-1293)CCG>CCA		beta							64.0	62.0	63.0					11																	376347		2195	4298	6493	SO:0001819	synonymous_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:376347G>A	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.1293G>A	11.37:g.376347G>A							p.P431P	NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1302	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	431			Lumenal (Potential).		Q96LV2	Silent	SNP	ENST00000329962.6	37	c.1293G>A	CCDS7694.1																																																																																				0.617	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2		NM_178537		12	46	0	0	0	0.001368	0	12	46		
OR52A4	390053	broad.mit.edu	37	11	5142584	5142584	+	RNA	SNP	A	A	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:5142584A>T	ENST00000498233.1	-	0	814							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)		TGCTAAGTGAAATGTCTGTGG	0.428																																						uc001lzz.1		NaN																	0				ovary(2)	2						c.(223-225)ATT>ATA		olfactory receptor, family 52, subfamily A,							60.0	59.0	60.0					11																	5142584		2201	4298	6499			390053							g.chr11:5142584A>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.5142584A>T						OR52A4_uc001maa.2_RNA	p.I75I	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	225	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							Silent	SNP	ENST00000498233.1	37	c.225T>A																																																																																					0.428	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1		NG_029079		18	53	0	0	0	0.00499	0	18	53		
DNHD1	144132	broad.mit.edu	37	11	6592276	6592276	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:6592276G>A	ENST00000527990.2	+	40	13534	c.13534G>A	c.(13534-13536)Ggc>Agc	p.G4512S	DNHD1_ENST00000254579.6_Missense_Mutation_p.G4512S			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4512					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCAGCTGAAGGGCGCACCCCC	0.682																																						uc001mdw.3		NaN																	0				ovary(2)	2						c.(13534-13536)GGC>AGC		dynein heavy chain domain 1 isoform 1							30.0	37.0	35.0					11																	6592276		2061	4184	6245	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6592276G>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13534G>A	11.37:g.6592276G>A	ENSP00000436180:p.Gly4512Ser					DNHD1_uc001mea.3_Missense_Mutation_p.G781S|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.G780S|DNHD1_uc010rao.1_Missense_Mutation_p.G770S|DNHD1_uc009yfg.2_Missense_Mutation_p.G137S	p.G4512S	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	42	14098	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4512					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.13534G>A	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821322	0.71028	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.21031	2.03;2.03	4.25	4.25	0.50352	Dynein heavy chain (1);	0.240762	0.28790	N	0.014139	T	0.40619	0.1124	L	0.60455	1.87	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.81914	0.995;0.981;0.994	T	0.10753	-1.0616	10	0.87932	D	0	-7.2429	12.327	0.55018	0.0:0.0:1.0:0.0	.	3600;565;4512	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	S	4512;4512;780	ENSP00000254579:G4512S;ENSP00000436180:G4512S	ENSP00000254579:G4512S	G	+	1	0	DNHD1	6548852	1.000000	0.71417	0.179000	0.23059	0.682000	0.39822	4.880000	0.63107	2.353000	0.79882	0.557000	0.71058	GGC		0.682	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2		NM_144666		14	33	0	0	0	0.003163	0	14	33		
DGKZ	8525	broad.mit.edu	37	11	46398102	46398102	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:46398102C>T	ENST00000454345.1	+	25	2879	c.2754C>T	c.(2752-2754)atC>atT	p.I918I	DGKZ_ENST00000318201.8_Silent_p.I707I|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000421244.2_Silent_p.I730I|DGKZ_ENST00000343674.6_Silent_p.I746I|DGKZ_ENST00000395574.3_Silent_p.I696I|DGKZ_ENST00000528615.1_Silent_p.I508I|DGKZ_ENST00000543978.1_Silent_p.I82I|DGKZ_ENST00000532868.2_Silent_p.I734I|DGKZ_ENST00000456247.2_Silent_p.I729I|DGKZ_ENST00000527911.1_Silent_p.I730I	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	918					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)	p.I746I(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TCTACAGGATCGACCGAGCCC	0.672																																						uc001ncn.1		NaN																	1	Substitution - coding silent(1)	p.I746I(1)	pancreas(1)	pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(2752-2754)ATC>ATT		diacylglycerol kinase zeta isoform 4							63.0	65.0	64.0					11																	46398102		2202	4299	6501	SO:0001819	synonymous_variant	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46398102C>T	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2754C>T	11.37:g.46398102C>T						DGKZ_uc001nch.1_Silent_p.I746I|DGKZ_uc010rgq.1_Silent_p.I673I|DGKZ_uc001ncj.1_Silent_p.I696I|DGKZ_uc010rgr.1_Silent_p.I695I|DGKZ_uc001nck.1_Silent_p.I508I|DGKZ_uc001ncl.2_Silent_p.I730I|DGKZ_uc001ncm.2_Silent_p.I729I|DGKZ_uc009yky.1_Silent_p.I730I|DGKZ_uc010rgs.1_Silent_p.I707I	p.I918I	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	25	2879	+			918					B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Silent	SNP	ENST00000454345.1	37	c.2754C>T	CCDS41640.1																																																																																				0.672	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1		NM_001105540		42	89	0	0	0	0.002852	0	42	89		
OR4P4	81300	broad.mit.edu	37	11	55406520	55406520	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:55406520G>C	ENST00000314612.2	+	1	687	c.687G>C	c.(685-687)gaG>gaC	p.E229D		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						ACTCTGCAGAGAGACGCAGCA	0.383																																						uc010rij.1		NaN																	0				central_nervous_system(1)	1						c.(685-687)GAG>GAC		olfactory receptor, family 4, subfamily P,							186.0	131.0	150.0					11																	55406520		2180	4026	6206	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406520G>C	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.687G>C	11.37:g.55406520G>C	ENSP00000324831:p.Glu229Asp						p.E229D	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	687	+			229			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000314612.2	37	c.687G>C	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830588	0.32329	.	.	ENSG00000181927	ENST00000314612	T	0.00193	8.58	5.51	0.95	0.19572	GPCR, rhodopsin-like superfamily (1);	0.367049	0.19835	N	0.104987	T	0.00356	0.0011	M	0.79805	2.47	0.09310	N	1	P	0.43024	0.798	P	0.56216	0.794	T	0.37478	-0.9704	10	0.72032	D	0.01	-4.8542	3.8997	0.09155	0.3723:0.1752:0.4525:0.0	.	229	Q8NGL7	OR4P4_HUMAN	D	229	ENSP00000324831:E229D	ENSP00000324831:E229D	E	+	3	2	OR4P4	55163096	0.000000	0.05858	0.152000	0.22495	0.024000	0.10985	-1.445000	0.02401	0.653000	0.30826	0.637000	0.83480	GAG		0.383	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1		NM_001004124		26	56	0	0	0	0.004656	0	26	56		
OR5F1	338674	broad.mit.edu	37	11	55761768	55761768	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:55761768A>G	ENST00000278409.1	-	1	333	c.334T>C	c.(334-336)Tgc>Cgc	p.C112R		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	112					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AAGAGGATGCATTCGGTTGTC	0.473																																						uc010riv.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(334-336)TGC>CGC		olfactory receptor, family 5, subfamily F,							82.0	80.0	81.0					11																	55761768		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761768A>G	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.334T>C	11.37:g.55761768A>G	ENSP00000278409:p.Cys112Arg						p.C112R	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	334	-	Esophageal squamous(21;0.00448)		112			Helical; Name=3; (Potential).		Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.334T>C	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	A	9.663	1.144685	0.21288	.	.	ENSG00000149133	ENST00000278409	T	0.02121	4.44	2.92	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.08537	0.0212	M	0.82823	2.61	0.18873	N	0.999989	P	0.52842	0.956	P	0.55508	0.777	T	0.11108	-1.0601	9	0.62326	D	0.03	.	6.7916	0.23703	0.7913:0.0:0.0:0.2087	.	112	O95221	OR5F1_HUMAN	R	112	ENSP00000278409:C112R	ENSP00000278409:C112R	C	-	1	0	OR5F1	55518344	0.000000	0.05858	0.706000	0.30403	0.349000	0.29174	0.033000	0.13754	1.115000	0.41800	0.247000	0.18012	TGC		0.473	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1		NM_003697		42	103	0	0	0	0.007835	0	42	103		
PLCB3	5331	broad.mit.edu	37	11	64032574	64032574	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:64032574C>T	ENST00000540288.1	+	23	2907	c.2804C>T	c.(2803-2805)cCa>cTa	p.P935L	PLCB3_ENST00000325234.5_Missense_Mutation_p.P868L|PLCB3_ENST00000279230.6_Missense_Mutation_p.P935L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	935					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CTCAGCAGCCCAGGTAAGGAG	0.721																																						uc001nzb.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(2803-2805)CCA>CTA		phospholipase C beta 3							7.0	7.0	7.0					11																	64032574		2087	4124	6211	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64032574C>T	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.2804C>T	11.37:g.64032574C>T	ENSP00000443631:p.Pro935Leu					PLCB3_uc009ypg.1_Missense_Mutation_p.P935L|PLCB3_uc009yph.1_Missense_Mutation_p.P868L|PLCB3_uc009ypi.2_Missense_Mutation_p.P935L	p.P935L	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			23	2804	+			935					A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.2804C>T	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	c	12.34	1.909521	0.33721	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.13657	2.57;2.57;2.57	5.02	5.02	0.67125	.	1.242820	0.05447	N	0.548771	T	0.21427	0.0516	L	0.55481	1.735	0.58432	D	0.999999	B;P	0.36789	0.004;0.57	B;B	0.38264	0.004;0.269	T	0.04767	-1.0928	10	0.52906	T	0.07	.	13.8608	0.63559	0.0:1.0:0.0:0.0	.	868;935	G5E960;Q01970	.;PLCB3_HUMAN	L	935;935;868	ENSP00000279230:P935L;ENSP00000443631:P935L;ENSP00000324660:P868L	ENSP00000279230:P935L	P	+	2	0	PLCB3	63789150	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	1.610000	0.36869	2.356000	0.79943	0.550000	0.68814	CCA		0.721	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1				3	4	0	0	0	0.009096	0	3	4		
PLCB3	5331	broad.mit.edu	37	11	64033997	64033997	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:64033997C>T	ENST00000540288.1	+	29	3490	c.3387C>T	c.(3385-3387)atC>atT	p.I1129I	PLCB3_ENST00000325234.5_Silent_p.I1062I|PLCB3_ENST00000279230.6_Silent_p.I1129I	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1129					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GTCGGCACATCACTGAGTCAG	0.632																																						uc001nzb.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(3385-3387)ATC>ATT		phospholipase C beta 3							116.0	103.0	108.0					11																	64033997		2201	4297	6498	SO:0001819	synonymous_variant	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64033997C>T	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3387C>T	11.37:g.64033997C>T						PLCB3_uc009ypg.1_Silent_p.I1129I|PLCB3_uc009yph.1_Silent_p.I1062I|PLCB3_uc009ypi.2_Silent_p.I1129I	p.I1129I	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			29	3387	+			1129					A5PKZ6|G5E960|Q8N1A4	Silent	SNP	ENST00000540288.1	37	c.3387C>T	CCDS8064.1																																																																																				0.632	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1				28	57	0	0	0	0.002096	0	28	57		
SF3B2	10992	broad.mit.edu	37	11	65831159	65831159	+	Silent	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:65831159C>G	ENST00000322535.6	+	19	2338	c.2289C>G	c.(2287-2289)ctC>ctG	p.L763L	SF3B2_ENST00000528302.1_Silent_p.L746L	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	763					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCCTGAACTCATTGAGCTGA	0.537																																						uc001ogy.1		NaN																	0				ovary(2)|breast(1)	3						c.(2287-2289)CTC>CTG		splicing factor 3B subunit 2							86.0	84.0	85.0					11																	65831159		2201	4295	6496	SO:0001819	synonymous_variant	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65831159C>G	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.2289C>G	11.37:g.65831159C>G							p.L763L	NM_006842	NP_006833	Q13435	SF3B2_HUMAN			19	2329	+			763					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Silent	SNP	ENST00000322535.6	37	c.2289C>G	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	C	9.323	1.058430	0.19987	.	.	ENSG00000087365	ENST00000530981	.	.	.	5.34	3.3	0.37823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.4164	13.9922	0.64374	0.0:0.6028:0.3972:0.0	.	.	.	.	X	184	.	.	S	+	2	0	SF3B2	65587735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.092000	0.41700	1.233000	0.43693	0.549000	0.68633	TCA		0.537	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2				13	27	0	0	0	0.003163	0	13	27		
GSTP1	2950	broad.mit.edu	37	11	67353985	67353985	+	Silent	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:67353985C>G	ENST00000398606.3	+	7	819	c.570C>G	c.(568-570)ctC>ctG	p.L190L	GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Silent_p.L154L	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	190	GST C-terminal.				cellular response to lipopolysaccharide (GO:0071222)|central nervous system development (GO:0007417)|common myeloid progenitor cell proliferation (GO:0035726)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biosynthetic process (GO:0009890)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of leukocyte proliferation (GO:0070664)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|nitric oxide storage (GO:0035732)|positive regulation of superoxide anion generation (GO:0032930)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of stress-activated MAPK cascade (GO:0032872)|response to reactive oxygen species (GO:0000302)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|TRAF2-GSTP1 complex (GO:0097057)|vesicle (GO:0031982)	dinitrosyl-iron complex binding (GO:0035731)|glutathione transferase activity (GO:0004364)|JUN kinase binding (GO:0008432)|kinase regulator activity (GO:0019207)|nitric oxide binding (GO:0070026)|S-nitrosoglutathione binding (GO:0035730)	p.L190L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Busulfan(DB01008)|Carboplatin(DB00958)|Chlorambucil(DB00291)|Cisplatin(DB00515)|Clomipramine(DB01242)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	GGCCCAAGCTCAAGGCCTTCC	0.627																																						uc001omf.2		NaN																	1	Substitution - coding silent(1)		cervix(1)	ovary(1)	1						c.(568-570)CTC>CTG		glutathione transferase	Ethacrynic acid(DB00903)|Glutathione(DB00143)						37.0	39.0	39.0					11																	67353985		1996	4155	6151	SO:0001819	synonymous_variant	2950				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding	g.chr11:67353985C>G	U12472	CCDS41679.1	11q13.2	2014-09-17	2008-07-18		ENSG00000084207	ENSG00000084207	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4638	protein-coding gene	gene with protein product		134660		FAEES3, GST3		1885604, 7587384, 19915149	Standard	NM_000852		Approved	GSTP	uc001omf.3	P09211	OTTHUMG00000137430	ENST00000398606.3:c.570C>G	11.37:g.67353985C>G						GSTP1_uc001omg.1_Silent_p.L171L	p.L190L	NM_000852	NP_000843	P09211	GSTP1_HUMAN			7	819	+			190			GST C-terminal.		O00460|Q15690|Q5TZY3	Silent	SNP	ENST00000398606.3	37	c.570C>G	CCDS41679.1																																																																																				0.627	GSTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268504.1		NM_000852		17	28	0	0	0	0.004007	0	17	28		
GSTP1	2950	broad.mit.edu	37	11	67353995	67353995	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:67353995C>T	ENST00000398606.3	+	7	829	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L	GSTP1_ENST00000498765.1_3'UTR|GSTP1_ENST00000398603.1_Silent_p.L158L	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	194	GST C-terminal.				cellular response to lipopolysaccharide (GO:0071222)|central nervous system development (GO:0007417)|common myeloid progenitor cell proliferation (GO:0035726)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biosynthetic process (GO:0009890)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of leukocyte proliferation (GO:0070664)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|nitric oxide storage (GO:0035732)|positive regulation of superoxide anion generation (GO:0032930)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of stress-activated MAPK cascade (GO:0032872)|response to reactive oxygen species (GO:0000302)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|TRAF2-GSTP1 complex (GO:0097057)|vesicle (GO:0031982)	dinitrosyl-iron complex binding (GO:0035731)|glutathione transferase activity (GO:0004364)|JUN kinase binding (GO:0008432)|kinase regulator activity (GO:0019207)|nitric oxide binding (GO:0070026)|S-nitrosoglutathione binding (GO:0035730)			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Busulfan(DB01008)|Carboplatin(DB00958)|Chlorambucil(DB00291)|Cisplatin(DB00515)|Clomipramine(DB01242)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	CAAGGCCTTCCTGGCCTCCCC	0.622																																						uc001omf.2		NaN																	0				ovary(1)	1						c.(580-582)CTG>TTG		glutathione transferase	Ethacrynic acid(DB00903)|Glutathione(DB00143)						37.0	38.0	38.0					11																	67353995		1991	4151	6142	SO:0001819	synonymous_variant	2950				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding	g.chr11:67353995C>T	U12472	CCDS41679.1	11q13.2	2014-09-17	2008-07-18		ENSG00000084207	ENSG00000084207	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4638	protein-coding gene	gene with protein product		134660		FAEES3, GST3		1885604, 7587384, 19915149	Standard	NM_000852		Approved	GSTP	uc001omf.3	P09211	OTTHUMG00000137430	ENST00000398606.3:c.580C>T	11.37:g.67353995C>T						GSTP1_uc001omg.1_Silent_p.L175L	p.L194L	NM_000852	NP_000843	P09211	GSTP1_HUMAN			7	829	+			194			GST C-terminal.		O00460|Q15690|Q5TZY3	Silent	SNP	ENST00000398606.3	37	c.580C>T	CCDS41679.1																																																																																				0.622	GSTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268504.1		NM_000852		16	23	0	0	0	0.004007	0	16	23		
PDE2A	5138	broad.mit.edu	37	11	72292403	72292403	+	Silent	SNP	G	G	A	rs200284582		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:72292403G>A	ENST00000334456.5	-	23	2288	c.2043C>T	c.(2041-2043)ctC>ctT	p.L681L	PDE2A_ENST00000540345.1_Silent_p.L672L|PDE2A_ENST00000376450.3_Silent_p.L425L|PDE2A_ENST00000544570.1_Silent_p.L674L|PDE2A_ENST00000444035.2_Silent_p.L672L|PDE2A_ENST00000418754.2_Silent_p.L566L	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	681	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CCACTCACTCGAGGTAGTTGG	0.602																																						uc010rrc.1		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(2041-2043)CTC>CTT		phosphodiesterase 2A isoform 1	Sildenafil(DB00203)|Sulindac(DB00605)	G	,,	0,4400		0,0,2200	57.0	54.0	55.0		2022,2016,2043	3.5	1.0	11		55	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous,coding-synonymous	PDE2A	NM_001143839.3,NM_001146209.2,NM_002599.4	,,	0,1,6492	AA,AG,GG		0.0116,0.0,0.0077	,,	674/935,672/933,681/942	72292403	1,12985	2200	4293	6493	SO:0001819	synonymous_variant	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72292403G>A	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2043C>T	11.37:g.72292403G>A						PDE2A_uc001oso.2_Silent_p.L660L|PDE2A_uc010rra.1_Silent_p.L674L|PDE2A_uc001osn.2_Silent_p.L425L|PDE2A_uc010rrb.1_Silent_p.L672L|PDE2A_uc010rrd.1_Silent_p.L566L	p.L681L	NM_002599	NP_002590	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		23	2286	-			681			Catalytic (By similarity).		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Silent	SNP	ENST00000334456.5	37	c.2043C>T	CCDS8216.1																																																																																				0.602	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2		NM_002599		16	30	0	0	0	0.006122	0	16	30		
POLD3	10714	broad.mit.edu	37	11	74303737	74303737	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:74303737G>A	ENST00000263681.2	+	1	163	c.34G>A	c.(34-36)Gag>Aag	p.E12K	POLD3_ENST00000532784.1_3'UTR|POLD3_ENST00000527458.1_5'UTR|POLD3_ENST00000532497.1_5'UTR	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	12					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					AAATATAGACGAGTTCGTCAC	0.642																																						uc001ovf.1		NaN																	0				kidney(2)|ovary(1)	3						c.(34-36)GAG>AAG		DNA-directed DNA polymerase delta 3							34.0	33.0	34.0					11																	74303737		2200	4293	6493	SO:0001583	missense	10714				base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding	g.chr11:74303737G>A	D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"""DNA polymerases"""	20932	protein-coding gene	gene with protein product	"""DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""protein phosphatase 1, regulatory subunit 128"""	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.34G>A	11.37:g.74303737G>A	ENSP00000263681:p.Glu12Lys					POLD3_uc009yua.1_5'UTR	p.E12K	NM_006591	NP_006582	Q15054	DPOD3_HUMAN			1	109	+	Breast(11;3.21e-06)		12					B7ZAI6|Q32MZ9|Q32N00	Missense_Mutation	SNP	ENST00000263681.2	37	c.34G>A	CCDS8233.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327459	0.81690	.	.	ENSG00000077514	ENST00000263681;ENST00000538052	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.41166	0.1147	M	0.66506	2.035	0.80722	D	1	P	0.48230	0.907	B	0.28232	0.087	T	0.44128	-0.9348	9	0.15952	T	0.53	-28.7892	13.6756	0.62451	0.0:0.0:1.0:0.0	.	12	Q15054	DPOD3_HUMAN	K	12	.	ENSP00000263681:E12K	E	+	1	0	POLD3	73981385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.747000	0.68689	2.683000	0.91414	0.655000	0.94253	GAG		0.642	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1		NM_006591		15	18	0	0	0	0.003163	0	15	18		
FAT3	120114	broad.mit.edu	37	11	92531056	92531056	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:92531056G>A	ENST00000298047.6	+	9	4894	c.4877G>A	c.(4876-4878)tGc>tAc	p.C1626Y	FAT3_ENST00000409404.2_Missense_Mutation_p.C1626Y|FAT3_ENST00000525166.1_Missense_Mutation_p.C1476Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1626	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCACCATTTGCAAAGAACCA	0.453										TCGA Ovarian(4;0.039)																												uc001pdj.3		NaN																	0				ovary(4)|pancreas(1)	5						c.(4876-4878)TGC>TAC		FAT tumor suppressor homolog 3							125.0	121.0	122.0					11																	92531056		1994	4166	6160	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531056G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4877G>A	11.37:g.92531056G>A	ENSP00000298047:p.Cys1626Tyr	TCGA Ovarian(4;0.039)					p.C1626Y	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	4894	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1626			Cadherin 15.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4877G>A		.	.	.	.	.	.	.	.	.	.	G	13.90	2.375545	0.42105	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.51071	0.72;0.72;0.72	5.81	4.9	0.64082	.	.	.	.	.	T	0.27278	0.0669	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.08659	-1.0711	9	0.87932	D	0	.	8.3215	0.32132	0.0:0.7308:0.1637:0.1055	.	1626	Q8TDW7-3	.	Y	1626;1626;1476	ENSP00000298047:C1626Y;ENSP00000387040:C1626Y;ENSP00000432586:C1476Y	ENSP00000298047:C1626Y	C	+	2	0	FAT3	92170704	0.995000	0.38212	0.998000	0.56505	0.879000	0.50718	3.147000	0.50639	1.464000	0.47987	-0.171000	0.13296	TGC		0.453	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781		47	73	0	0	0	0.00361	0	47	73		
SIK3	23387	broad.mit.edu	37	11	116741051	116741052	+	Nonsense_Mutation	DNP	GC	GC	AA			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:116741051_116741052GC>AA	ENST00000292055.4	-	14	1664_1665	c.1629_1630GC>TT	c.(1627-1632)gtGCag>gtTTag	p.Q544*	SIK3_ENST00000446921.2_Nonsense_Mutation_p.Q554*|SIK3_ENST00000488337.1_5'Flank|SIK3_ENST00000434315.2_Nonsense_Mutation_p.Q443*|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Nonsense_Mutation_p.Q602*|SIK3_ENST00000542607.1_Nonsense_Mutation_p.Q496*	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	544					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CATTACCTCTGCACAGCTTCCT	0.594											OREG0003489	type=REGULATORY REGION|Gene=BC063887|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001ppy.2		NaN																	0				ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						c.(1627-1632)GTGCAG>GTTTAG		serine/threonine-protein kinase QSK																																				SO:0001587	stop_gained	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116741051_116741052GC>AA	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.1629_1630delinsAA	11.37:g.116741051_116741052delinsAA	ENSP00000292055:p.Gln544*		OREG0003489	type=REGULATORY REGION|Gene=BC063887|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1475	SIK3_uc001ppz.2_Nonsense_Mutation_p.Q443*|SIK3_uc001pqa.2_Nonsense_Mutation_p.Q496*|SIK3_uc001ppx.2_5'Flank	p.Q544*	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN			14	1665_1666	-			544					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Nonsense_Mutation	DNP	ENST00000292055.4	37	c.1629_1630GC>TT	CCDS8379.1																																																																																				0.594	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_025164		12	27	0	0	0	0.004672	0	12	27		
OR10G4	390264	broad.mit.edu	37	11	123886665	123886665	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:123886665G>A	ENST00000320891.4	+	1	384	c.384G>A	c.(382-384)ccG>ccA	p.P128P		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCAGTTACCCGCTCAGGTACA	0.557																																						uc010sac.1		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(382-384)CCG>CCA		olfactory receptor, family 10, subfamily G,																																				SO:0001819	synonymous_variant	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886665G>A	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.384G>A	11.37:g.123886665G>A							p.P128P	NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	384	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	128			Cytoplasmic (Potential).		Q6IEW0	Silent	SNP	ENST00000320891.4	37	c.384G>A	CCDS31702.1																																																																																				0.557	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1		NM_001004462		50	125	0	0	0	0.00361	0	50	125		
GLB1L3	112937	broad.mit.edu	37	11	134181051	134181051	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:134181051C>G	ENST00000431683.2	+	13	1274	c.1274C>G	c.(1273-1275)tCc>tGc	p.S425C		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	425					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)		GACGCCCTATCCTACTTAAAT	0.582																																						uc009zdf.2		NaN																	0				pancreas(1)	1						c.(1273-1275)TCC>TGC		galactosidase, beta 1 like 3							151.0	153.0	152.0					11																	134181051		1994	4156	6150	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134181051C>G		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.1274C>G	11.37:g.134181051C>G	ENSP00000396615:p.Ser425Cys					GLB1L3_uc010scu.1_3'UTR|GLB1L3_uc001qho.3_RNA	p.S425C	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)	13	1634	+	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)	425					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.1274C>G	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.561098	0.45590	.	.	ENSG00000166105	ENST00000431683	D	0.97232	-4.3	4.87	-9.73	0.00512	.	1.955520	0.01982	N	0.044873	D	0.93779	0.8011	N	0.17474	0.49	0.09310	N	1	P	0.36183	0.542	B	0.41299	0.353	D	0.86819	0.2003	10	0.66056	D	0.02	.	16.8123	0.85724	0.148:0.7785:0.0735:0.0	.	425	Q8NCI6	GLBL3_HUMAN	C	425	ENSP00000396615:S425C	ENSP00000396615:S425C	S	+	2	0	GLB1L3	133686261	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.714000	0.05002	-1.985000	0.00984	-0.538000	0.04264	TCC		0.582	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1		NM_138416		114	196	0	0	0	0.00361	0	114	196		
PIANP	196500	broad.mit.edu	37	12	6806635	6806635	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:6806635C>T	ENST00000540656.1	-	3	679	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	PIANP_ENST00000534837.1_Missense_Mutation_p.R114Q|PIANP_ENST00000320591.5_Missense_Mutation_p.R114Q	NM_001244015.1	NP_001230944.1	Q8IYJ0	PIANP_HUMAN	PILR alpha associated neural protein	114						integral component of membrane (GO:0016021)											TCCATCCTCTCGAGACACGGT	0.632																																						uc001qqf.1		NaN																	0					0						c.(340-342)CGA>CAA		hypothetical protein LOC196500 precursor							38.0	41.0	40.0					12																	6806635		1916	4113	6029	SO:0001583	missense	196500					integral to membrane		g.chr12:6806635C>T	BC035736	CCDS44818.1, CCDS58205.1	12p13.31	2012-08-17	2012-08-17	2012-08-17	ENSG00000139200	ENSG00000139200			25338	protein-coding gene	gene with protein product	"""PILR-associating neural protein"""		"""chromosome 12 open reading frame 53"""	C12orf53		12975309	Standard	NM_153685		Approved	DKFZp547D2210, PANP	uc001qqf.2	Q8IYJ0	OTTHUMG00000168664	ENST00000540656.1:c.341G>A	12.37:g.6806635C>T	ENSP00000442157:p.Arg114Gln					C12orf53_uc001qqg.1_Missense_Mutation_p.R114Q	p.R114Q	NM_153685	NP_710152	Q8IYJ0	CL053_HUMAN			3	417	-			114			Extracellular (Potential).		A8K0T3|B3KPF7|B3KRI6|Q6UX35	Missense_Mutation	SNP	ENST00000540656.1	37	c.341G>A	CCDS44818.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.248900	0.59103	.	.	ENSG00000139200	ENST00000540656;ENST00000320591;ENST00000534837;ENST00000439553;ENST00000545917	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.05	4.05	0.47172	.	0.416016	0.20868	N	0.084239	T	0.13286	0.0322	N	0.08118	0	0.24408	N	0.994675	P	0.45569	0.861	B	0.24974	0.057	T	0.06320	-1.0833	10	0.26408	T	0.33	-5.7601	3.8089	0.08789	0.3013:0.5116:0.0:0.1871	.	114	Q8IYJ0	CL053_HUMAN	Q	114;114;114;88;114	ENSP00000442157:R114Q;ENSP00000317818:R114Q;ENSP00000443919:R114Q;ENSP00000444605:R114Q	ENSP00000317818:R114Q	R	-	2	0	C12orf53	6676896	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.676000	0.37565	1.802000	0.52723	0.305000	0.20034	CGA		0.632	PIANP-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400524.1		NM_153685		16	24	0	0	0	0.006122	0	16	24		
ERGIC2	51290	broad.mit.edu	37	12	29498396	29498396	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:29498396G>A	ENST00000360150.4	-	11	880	c.805C>T	c.(805-807)Cag>Tag	p.Q269*		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	269					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)					ACAGAAAACTGATGGGTGTCT	0.303																																						uc001riv.2		NaN																	0				ovary(1)	1						c.(805-807)CAG>TAG		PTX1 protein	Arsenic trioxide(DB01169)						146.0	138.0	141.0					12																	29498396		1797	4068	5865	SO:0001587	stop_gained	51290				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus		g.chr12:29498396G>A	AF216751	CCDS41765.1	12p11.22	2006-02-08							30208	protein-coding gene	gene with protein product		612236				11445006, 12932305	Standard	NM_016570		Approved	PTX1, Erv41	uc001riv.3	Q96RQ1		ENST00000360150.4:c.805C>T	12.37:g.29498396G>A	ENSP00000353270:p.Gln269*					ERGIC2_uc001riw.2_RNA	p.Q269*	NM_016570	NP_057654	Q96RQ1	ERGI2_HUMAN			11	938	-	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)		269			Lumenal (Potential).		A6NHH6|Q53GY2|Q8N2Q9|Q9BVV9|Q9NZA3	Nonsense_Mutation	SNP	ENST00000360150.4	37	c.805C>T	CCDS41765.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.336360|5.336360	0.95758|0.95758	.|.	.|.	ENSG00000087502|ENSG00000087502	ENST00000360150;ENST00000201023|ENST00000548909	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.106321|.	0.64402|.	D|.	0.000003|.	.|T	.|0.74861	.|0.3772	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71810	.|-0.4480	.|3	0.87932|.	D|.	0|.	.|.	18.0409|18.0409	0.89318|0.89318	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	269;277|78	.|.	ENSP00000201023:Q277X|.	Q|S	-|-	1|2	0|0	ERGIC2|ERGIC2	29389663|29389663	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.714000|9.714000	0.98744|0.98744	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.303	ERGIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403489.1		NM_016570		42	91	0	0	0	0.002852	0	42	91		
IPO8	10526	broad.mit.edu	37	12	30802107	30802107	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:30802107G>A	ENST00000256079.4	-	20	2570	c.2232C>T	c.(2230-2232)gtC>gtT	p.V744V	IPO8_ENST00000544829.1_Silent_p.V539V	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	744					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAAGAATGATGACTTCCAGAA	0.428																																						uc001rjd.2		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(2230-2232)GTC>GTT		importin 8							263.0	222.0	236.0					12																	30802107		2203	4300	6503	SO:0001819	synonymous_variant	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30802107G>A	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2232C>T	12.37:g.30802107G>A						IPO8_uc001rje.1_Silent_p.V233V|IPO8_uc010sjt.1_Silent_p.V539V	p.V744V	NM_006390	NP_006381	O15397	IPO8_HUMAN			20	2402	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		744					B7Z7M3	Silent	SNP	ENST00000256079.4	37	c.2232C>T	CCDS8719.1																																																																																				0.428	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2		NM_006390		37	77	0	0	0	0.00623	0	37	77		
DENND5B	160518	broad.mit.edu	37	12	31540716	31540716	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:31540716G>T	ENST00000389082.5	-	21	3910	c.3646C>A	c.(3646-3648)Cgc>Agc	p.R1216S	DENND5B_ENST00000536562.1_Missense_Mutation_p.R1251S|DENND5B_ENST00000306833.6_Missense_Mutation_p.R1251S	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1216	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R1216C(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGGAGCAGGCGATCCCTACAG	0.527																																						uc001rki.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|central_nervous_system(1)	2						c.(3646-3648)CGC>AGC		DENN/MADD domain containing 5B							74.0	69.0	70.0					12																	31540716		2032	4185	6217	SO:0001583	missense	160518					integral to membrane		g.chr12:31540716G>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.3646C>A	12.37:g.31540716G>T	ENSP00000373734:p.Arg1216Ser					DENND5B_uc001rkh.1_Missense_Mutation_p.R1251S|DENND5B_uc009zjq.1_Intron	p.R1216S	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			21	3832	-			1216			RUN 2.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.3646C>A	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194913	0.78902	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.30182	1.54;1.54;1.54	5.29	5.29	0.74685	RUN (3);	0.304535	0.31821	N	0.007005	T	0.33702	0.0872	L	0.40543	1.245	0.48632	D	0.999685	B;B	0.33694	0.263;0.421	B;B	0.37650	0.255;0.219	T	0.15838	-1.0423	10	0.72032	D	0.01	-19.5091	19.1165	0.93343	0.0:0.0:1.0:0.0	.	1216;1251	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	S	1216;1251;1251	ENSP00000373734:R1216S;ENSP00000306482:R1251S;ENSP00000444889:R1251S	ENSP00000306482:R1251S	R	-	1	0	DENND5B	31431983	1.000000	0.71417	0.941000	0.38009	0.992000	0.81027	7.502000	0.81614	2.761000	0.94854	0.655000	0.94253	CGC		0.527	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1		NM_144973		15	31	1	0	2.31682e-05	0.003163	2.34923e-05	15	31		
KMT2D	8085	broad.mit.edu	37	12	49427126	49427126	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:49427126G>A	ENST00000301067.7	-	39	11361	c.11362C>T	c.(11362-11364)Cag>Tag	p.Q3788*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3788	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GACAGCTGCTGGACCAGGAGG	0.667																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(11362-11364)CAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							16.0	19.0	19.0					12																	49427126		2005	4164	6169	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49427126G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11362C>T	12.37:g.49427126G>A	ENSP00000301067:p.Gln3788*	HNSCC(34;0.089)					p.Q3788*	NM_003482	NP_003473	O14686	MLL2_HUMAN			39	11362	-			3788			Gln-rich.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.11362C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	51	17.465034	0.99887	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.02	5.02	0.67125	.	0.000000	0.32918	N	0.005490	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.4938	0.87712	0.0:0.0:1.0:0.0	.	.	.	.	X	3788	.	ENSP00000301067:Q3788X	Q	-	1	0	MLL2	47713393	1.000000	0.71417	1.000000	0.80357	0.394000	0.30568	5.116000	0.64661	2.505000	0.84491	0.462000	0.41574	CAG		0.667	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				5	6	0	0	0	0.000602	0	5	6		
FMNL3	91010	broad.mit.edu	37	12	50050233	50050233	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:50050233C>T	ENST00000293590.5	-	9	1072	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	FMNL3_ENST00000335154.5_Missense_Mutation_p.R280Q|FMNL3_ENST00000550488.1_Missense_Mutation_p.R280Q|FMNL3_ENST00000352151.5_Missense_Mutation_p.R229Q			Q8IVF7	FMNL3_HUMAN	formin-like 3	280	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GTGACCTCCTCGCACCAAACA	0.512																																						uc001ruv.1		NaN																	0				breast(2)|pancreas(2)	4						c.(838-840)CGA>CAA		formin-like 3 isoform 1							78.0	80.0	79.0					12																	50050233		2052	4227	6279	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50050233C>T	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.839G>A	12.37:g.50050233C>T	ENSP00000293590:p.Arg280Gln					FMNL3_uc001ruw.1_Missense_Mutation_p.R229Q|FMNL3_uc001ruu.1_Missense_Mutation_p.R130Q	p.R280Q	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN			9	1073	-			280			GBD/FH3.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.839G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.731765	0.96856	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.92740	0.7692	M	0.72118	2.19	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.75484	0.986;0.975	D	0.91006	0.4846	10	0.33141	T	0.24	.	18.4119	0.90554	0.0:1.0:0.0:0.0	.	229;280	Q8IVF7-2;Q8IVF7-3	.;.	Q	280;280;229;280	ENSP00000335655:R280Q;ENSP00000447479:R280Q;ENSP00000344311:R229Q;ENSP00000293590:R280Q	ENSP00000293590:R280Q	R	-	2	0	FMNL3	48336500	0.904000	0.30761	1.000000	0.80357	0.997000	0.91878	7.748000	0.85085	2.732000	0.93576	0.655000	0.94253	CGA		0.512	FMNL3-201	KNOWN	basic	protein_coding	protein_coding			NM_175736		10	32	0	0	0	0.008291	0	10	32		
MYF5	4617	broad.mit.edu	37	12	81111214	81111214	+	Silent	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:81111214C>G	ENST00000228644.3	+	1	524	c.372C>G	c.(370-372)ctC>ctG	p.L124L		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	124	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TGGAGATCCTCAGGAATGCCA	0.597																																						uc001szg.2		NaN																	0				ovary(1)	1						c.(370-372)CTC>CTG		myogenic factor 5							85.0	82.0	83.0					12																	81111214		2203	4300	6503	SO:0001819	synonymous_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81111214C>G		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.372C>G	12.37:g.81111214C>G							p.L124L	NM_005593	NP_005584	P13349	MYF5_HUMAN			1	507	+			124			Helix-loop-helix motif.		Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.372C>G	CCDS9020.1																																																																																				0.597	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1		NM_005593		52	81	0	0	0	0.00361	0	52	81		
SLC17A8	246213	broad.mit.edu	37	12	100751235	100751235	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:100751235G>C	ENST00000323346.5	+	1	379	c.66G>C	c.(64-66)aaG>aaC	p.K22N	SLC17A8_ENST00000392989.3_Missense_Mutation_p.K22N	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	22					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AAGGAGTGAAGAACGCCGTGG	0.413																																						uc010svi.1		NaN																	0				ovary(3)	3						c.(64-66)AAG>AAC		solute carrier family 17 (sodium-dependent							81.0	91.0	87.0					12																	100751235		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100751235G>C	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.66G>C	12.37:g.100751235G>C	ENSP00000316909:p.Lys22Asn					SLC17A8_uc009ztx.2_Missense_Mutation_p.K22N	p.K22N	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			1	379	+			22			Cytoplasmic (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.66G>C	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554270	0.65425	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.72282	-0.24;-0.64	6.01	6.01	0.97437	.	0.046067	0.85682	D	0.000000	T	0.80909	0.4714	L	0.57536	1.79	0.54753	D	0.999986	D;D	0.56287	0.957;0.975	P;P	0.58331	0.691;0.837	T	0.80491	-0.1359	10	0.62326	D	0.03	.	20.1315	0.98000	0.0:0.0:1.0:0.0	.	22;22	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	N	22	ENSP00000316909:K22N;ENSP00000376715:K22N	ENSP00000316909:K22N	K	+	3	2	SLC17A8	99275366	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.184000	0.65070	2.861000	0.98227	0.650000	0.86243	AAG		0.413	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2		NM_139319		36	88	0	0	0	0.003755	0	36	88		
PARPBP	55010	broad.mit.edu	37	12	102576369	102576369	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr12:102576369A>T	ENST00000358383.5	+	9	1272	c.1227A>T	c.(1225-1227)gaA>gaT	p.E409D	PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000392911.2_Missense_Mutation_p.E328D|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000327680.2_Missense_Mutation_p.E328D|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000541394.1_Missense_Mutation_p.E486D			Q9NWS1	PARI_HUMAN	PARP1 binding protein	409					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						CCCTAAGAGAACGCATCTGTG	0.318																																						uc001tjf.2		NaN																	0					0						c.(1225-1227)GAA>GAT		hypothetical protein LOC55010							60.0	60.0	60.0					12																	102576369		2203	4299	6502	SO:0001583	missense	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102576369A>T	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.1227A>T	12.37:g.102576369A>T	ENSP00000351153:p.Glu409Asp					C12orf48_uc001tjg.2_Missense_Mutation_p.E328D|C12orf48_uc010swa.1_Missense_Mutation_p.E486D|C12orf48_uc001tjh.2_Missense_Mutation_p.E328D|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Missense_Mutation_p.E124D|C12orf48_uc001tjk.2_Missense_Mutation_p.E288D|C12orf48_uc009zud.2_Intron	p.E409D	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN			9	1339	+			409					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	c.1227A>T	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	A	11.21	1.570177	0.28003	.	.	ENSG00000185480	ENST00000327680;ENST00000541394;ENST00000358383;ENST00000392911;ENST00000417507	T;T;T;T;T	0.61510	0.91;0.91;0.91;0.91;0.1	5.53	1.9	0.25705	.	0.205867	0.53938	D	0.000059	T	0.63803	0.2542	M	0.69823	2.125	0.26970	N	0.965607	P;P;D	0.58268	0.93;0.93;0.982	P;P;P	0.55615	0.637;0.457;0.78	T	0.56920	-0.7899	10	0.54805	T	0.06	-21.8233	7.1253	0.25469	0.7282:0.0:0.2718:0.0	.	486;288;409	B4DZ31;Q9NWS1-7;Q9NWS1	.;.;PR1BP_HUMAN	D	328;486;409;328;255	ENSP00000332915:E328D;ENSP00000440850:E486D;ENSP00000351153:E409D;ENSP00000376643:E328D;ENSP00000411313:E255D	ENSP00000332915:E328D	E	+	3	2	C12orf48	101100499	1.000000	0.71417	0.999000	0.59377	0.123000	0.20343	0.773000	0.26661	0.139000	0.18822	-0.376000	0.06991	GAA		0.318	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2		NM_017915		12	16	0	0	0	0.001368	0	12	16		
HMGB1	3146	broad.mit.edu	37	13	31037474	31037474	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr13:31037474C>G	ENST00000405805.1	-	3	1106	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	HMGB1_ENST00000326004.4_Missense_Mutation_p.E56Q|HMGB1_ENST00000399489.1_Missense_Mutation_p.E56Q|HMGB1_ENST00000399494.1_Missense_Mutation_p.E56Q|HMGB1_ENST00000339872.4_Missense_Mutation_p.E56Q|HMGB1_ENST00000468384.1_5'UTR|HMGB1_ENST00000341423.5_Missense_Mutation_p.E56Q			P09429	HMGB1_HUMAN	high mobility group box 1	56					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		TTTCCTTTCTCTTTAGCAGAC	0.333																																						uc001usw.2		NaN																	0				ovary(1)	1						c.(166-168)GAG>CAG		high-mobility group box 1							40.0	44.0	42.0					13																	31037474		2203	4300	6503	SO:0001583	missense	3146				base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr13:31037474C>G	D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"""High-mobility group / Canonical"""	4983	protein-coding gene	gene with protein product	"""high mobility group box 1"", ""Sulfoglucuronyl carbohydrate binding protein"", ""Amphoterin"", ""high mobility group protein 1"""	163905	"""high-mobility group (nonhistone chromosomal) protein 1"", ""high-mobility group box 1"""	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.166G>C	13.37:g.31037474C>G	ENSP00000384678:p.Glu56Gln					HMGB1_uc001usz.2_Missense_Mutation_p.E56Q|HMGB1_uc001usv.2_Missense_Mutation_p.E56Q|HMGB1_uc001usx.2_Missense_Mutation_p.E56Q|HMGB1_uc001usy.2_Intron|HMGB1_uc001uta.1_Missense_Mutation_p.E56Q	p.E56Q	NM_002128	NP_002119	P09429	HMGB1_HUMAN		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)	3	350	-		Lung SC(185;0.0257)	56			HMG box 1.		A5D8W9|Q14321|Q5T7C3|Q6IBE1	Missense_Mutation	SNP	ENST00000405805.1	37	c.166G>C	CCDS9335.1	.	.	.	.	.	.	.	.	.	.	C	34	5.324137	0.95708	.	.	ENSG00000189403	ENST00000405805;ENST00000339872;ENST00000341423;ENST00000399489;ENST00000399494;ENST00000426225;ENST00000326004;ENST00000398908	T;T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11;2.11	5.44	5.44	0.79542	High mobility group, HMG1/HMG2, subgroup (1);High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.53938	D	0.000056	T	0.53706	0.1813	M	0.87547	2.89	0.80722	D	1	D;D;P	0.54601	0.967;0.967;0.819	D;D;P	0.68621	0.959;0.923;0.591	T	0.58896	-0.7555	10	0.54805	T	0.06	.	19.2732	0.94019	0.0:1.0:0.0:0.0	.	56;56;56	B7Z965;P09429;Q5T7C4	.;HMGB1_HUMAN;.	Q	56	ENSP00000384678:E56Q;ENSP00000343040:E56Q;ENSP00000345347:E56Q;ENSP00000382412:E56Q;ENSP00000382417:E56Q;ENSP00000369904:E56Q;ENSP00000410465:E56Q	ENSP00000369904:E56Q	E	-	1	0	HMGB1	29935474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.654000	0.83653	2.547000	0.85894	0.643000	0.83706	GAG		0.333	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303998.2		NM_002128		31	36	0	0	0	0.008361	0	31	36		
IRS2	8660	broad.mit.edu	37	13	110435362	110435362	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr13:110435362C>T	ENST00000375856.3	-	1	3553	c.3039G>A	c.(3037-3039)ccG>ccA	p.P1013P		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1013					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			acggcggATACGGGGAGGAGG	0.766																																					Melanoma(100;613 2409 40847)	uc001vqv.2		NaN																	0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8						c.(3037-3039)CCG>CCA		insulin receptor substrate 2							2.0	2.0	2.0					13																	110435362		1322	2872	4194	SO:0001819	synonymous_variant	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110435362C>T	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3039G>A	13.37:g.110435362C>T							p.P1013P	NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	3553	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	1013					Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	ENST00000375856.3	37	c.3039G>A	CCDS9510.1																																																																																				0.766	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1		NM_003749		3	2	0	0	0	0.004672	0	3	2		
TMEM55B	90809	broad.mit.edu	37	14	20929450	20929450	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:20929450G>A	ENST00000250489.4	-	1	321	c.35C>T	c.(34-36)tCt>tTt	p.S12F	TMEM55B_ENST00000398020.4_Missense_Mutation_p.S12F|TMEM55B_ENST00000554028.1_5'Flank			Q86T03	TM55B_HUMAN	transmembrane protein 55B	12						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		GATGGGCTCAGACAGCAGCGG	0.751																																						uc001vxl.2		NaN																	0					0						c.(34-36)TCT>TTT		transmembrane protein 55B isoform 2							5.0	6.0	5.0					14																	20929450		1858	3834	5692	SO:0001583	missense	90809					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr14:20929450G>A	BC002867	CCDS9551.1, CCDS41911.1	14q11.1	2002-11-27	2005-07-18	2005-07-18	ENSG00000165782	ENSG00000165782			19299	protein-coding gene	gene with protein product		609865	"""chromosome 14 open reading frame 9"""	C14orf9			Standard	NM_144568		Approved	MGC26684	uc001vxk.2	Q86T03	OTTHUMG00000029545	ENST00000250489.4:c.35C>T	14.37:g.20929450G>A	ENSP00000250489:p.Ser12Phe					TMEM55B_uc001vxk.2_Missense_Mutation_p.S12F	p.S12F	NM_144568	NP_653169	Q86T03	TM55B_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	1	188	-	all_cancers(95;0.00123)	all_lung(585;0.235)	12					B2RA35|Q86U09|Q8WUC0|Q9BU67|Q9NSU8	Missense_Mutation	SNP	ENST00000250489.4	37	c.35C>T	CCDS9551.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854647	0.71719	.	.	ENSG00000165782	ENST00000250489;ENST00000398020	.	.	.	4.93	4.93	0.64822	.	0.148220	0.47852	D	0.000201	T	0.66848	0.2831	L	0.53249	1.67	0.80722	D	1	D;B	0.56287	0.975;0.126	P;B	0.54815	0.761;0.102	T	0.70479	-0.4860	9	0.72032	D	0.01	-5.2093	17.0804	0.86597	0.0:0.0:1.0:0.0	.	12;12	Q86T03;Q86T03-2	TM55B_HUMAN;.	F	12	.	ENSP00000250489:S12F	S	-	2	0	TMEM55B	19999290	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.292000	0.59031	2.562000	0.86427	0.655000	0.94253	TCT		0.751	TMEM55B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073643.3		NM_144568		3	4	0	0	0	0.009096	0	3	4		
PRMT5	10419	broad.mit.edu	37	14	23397792	23397792	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:23397792G>T	ENST00000324366.8	-	2	366	c.143C>A	c.(142-144)cCg>cAg	p.P48Q	PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000397441.2_Missense_Mutation_p.P31Q|PRMT5-AS1_ENST00000599580.2_RNA|RP11-298I3.1_ENST00000548819.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.P48Q|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.P31Q|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000538452.1_Intron|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.P31Q	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	48	TIM barrel. {ECO:0000269|PubMed:23071334}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)	p.P48L(1)|p.P31L(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CTTGAAACGCGGATGGAAGAC	0.537																																						uc001whm.1		NaN																	2	Substitution - Missense(2)		kidney(2)	ovary(1)	1						c.(142-144)CCG>CAG		protein arginine methyltransferase 5 isoform a							124.0	112.0	116.0					14																	23397792		2203	4300	6503	SO:0001583	missense	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23397792G>T	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.143C>A	14.37:g.23397792G>T	ENSP00000319169:p.Pro48Gln					PRMT5_uc001whl.1_Missense_Mutation_p.P31Q|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Intron|PRMT5_uc010tng.1_Missense_Mutation_p.P31Q|PRMT5_uc010tnh.1_Missense_Mutation_p.P48Q|PRMT5_uc001whn.1_Missense_Mutation_p.P31Q	p.P48Q	NM_006109	NP_006100	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	2	234	-	all_cancers(95;2.76e-05)		48					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	c.143C>A	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694235	0.88735	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000553897;ENST00000553550;ENST00000554867;ENST00000554910;ENST00000421938	.	.	.	5.27	5.27	0.74061	.	0.052297	0.85682	D	0.000000	D	0.83603	0.5290	M	0.84683	2.71	0.80722	D	1	D;D;D;D;P	0.89917	0.999;0.992;0.966;1.0;0.89	D;P;P;D;P	0.72982	0.979;0.818;0.473;0.97;0.505	D	0.85509	0.1196	9	0.62326	D	0.03	-13.99	17.8216	0.88652	0.0:0.0:1.0:0.0	.	48;31;31;48;31	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91	.;.;.;ANM5_HUMAN;.	Q	48;31;31;31;48;48;48;6;48	.	ENSP00000216350:P31Q	P	-	2	0	PRMT5	22467632	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.041000	0.89428	2.735000	0.93741	0.557000	0.71058	CCG		0.537	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3				25	78	1	0	3.01185e-09	0.003954	3.10831e-09	25	78		
CPNE6	9362	broad.mit.edu	37	14	24543758	24543758	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:24543758G>C	ENST00000397016.2	+	7	828	c.517G>C	c.(517-519)Gac>Cac	p.D173H	CPNE6_ENST00000537691.1_Missense_Mutation_p.D228H|CPNE6_ENST00000216775.2_Missense_Mutation_p.D173H	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	173	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CAGCAAGTCTGACCCTTTCAT	0.547																																						uc001wll.2		NaN																	0				skin(2)|ovary(1)	3						c.(517-519)GAC>CAC		copine 6							105.0	101.0	102.0					14																	24543758		2203	4300	6503	SO:0001583	missense	9362				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	g.chr14:24543758G>C	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.517G>C	14.37:g.24543758G>C	ENSP00000380211:p.Asp173His					CPNE6_uc010tnv.1_Missense_Mutation_p.D228H|CPNE6_uc001wlm.2_5'UTR|CPNE6_uc001wln.2_5'Flank	p.D173H	NM_006032	NP_006023	O95741	CPNE6_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	6	616	+			173			C2 2.		B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	ENST00000397016.2	37	c.517G>C	CCDS9607.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351744	0.82132	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.60040	0.22;0.22;0.22	5.19	5.19	0.71726	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000016	D	0.85927	0.5811	H	0.99379	4.54	0.51767	D	0.999935	P;D	0.59357	0.929;0.985	P;D	0.64595	0.666;0.927	D	0.92084	0.5675	10	0.87932	D	0	-28.3028	16.2033	0.82103	0.0:0.0:1.0:0.0	.	228;173	F5GXN1;O95741	.;CPNE6_HUMAN	H	228;173;173	ENSP00000440077:D228H;ENSP00000380211:D173H;ENSP00000216775:D173H	ENSP00000216775:D173H	D	+	1	0	CPNE6	23613598	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.331000	0.96430	2.435000	0.82474	0.313000	0.20887	GAC		0.547	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5				23	64	0	0	0	0.003954	0	23	64		
RALGAPA1	253959	broad.mit.edu	37	14	36121033	36121033	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:36121033G>A	ENST00000389698.3	-	30	4526	c.4136C>T	c.(4135-4137)tCa>tTa	p.S1379L	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.S1426L|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S1379L|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S1392L	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1379	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTCATAAGATGAAGCCTCTGT	0.274																																						uc001wti.2		NaN																	0				ovary(3)|breast(1)	4						c.(4135-4137)TCA>TTA		Ral GTPase activating protein, alpha subunit 1							71.0	78.0	75.0					14																	36121033		2203	4286	6489	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36121033G>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4136C>T	14.37:g.36121033G>A	ENSP00000374348:p.Ser1379Leu					RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.S1379L|RALGAPA1_uc010tpv.1_Missense_Mutation_p.S1392L|RALGAPA1_uc010tpw.1_Missense_Mutation_p.S1426L	p.S1379L	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN			30	4527	-			1379			Minimal domain that binds to TCF3/E12 (By similarity).		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.4136C>T	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971814	0.92919	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;1.52;-0.32;-0.32	5.41	5.41	0.78517	.	0.211116	0.42682	D	0.000670	T	0.80008	0.4545	M	0.67397	2.05	0.58432	D	0.999997	D;P;D;P	0.63880	0.982;0.948;0.993;0.945	P;P;P;P	0.61940	0.802;0.722;0.896;0.658	T	0.81883	-0.0728	10	0.87932	D	0	-10.1116	19.203	0.93719	0.0:0.0:1.0:0.0	.	1426;1392;1379;1379	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	L	1379;1379;1379;1426;17;1392;1426	ENSP00000374348:S1379L;ENSP00000302647:S1379L;ENSP00000258840:S1426L;ENSP00000451133:S17L;ENSP00000371803:S1392L;ENSP00000451877:S1426L	ENSP00000258840:S1426L	S	-	2	0	RALGAPA1	35190784	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.173000	0.89680	2.535000	0.85469	0.591000	0.81541	TCA		0.274	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1		XM_210022		25	64	0	0	0	0.004656	0	25	64		
FAM179B	23116	broad.mit.edu	37	14	45478126	45478126	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:45478126C>G	ENST00000361577.3	+	6	3129	c.2915C>G	c.(2914-2916)tCt>tGt	p.S972C	FAM179B_ENST00000382233.2_Intron|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361462.2_Missense_Mutation_p.S972C	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	972	Ser-rich.									endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ATGCATAGCTCTCTTAGGTCC	0.338																																						uc001wvv.2		NaN																	0				skin(2)|upper_aerodigestive_tract(1)	3						c.(2914-2916)TCT>TGT		hypothetical protein LOC23116							88.0	82.0	84.0					14																	45478126		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45478126C>G	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2915C>G	14.37:g.45478126C>G	ENSP00000355045:p.Ser972Cys					FAM179B_uc001wvw.2_Missense_Mutation_p.S972C|FAM179B_uc010anc.2_Intron	p.S972C	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN			6	3124	+			972			Ser-rich.		Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.2915C>G	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988724	0.74589	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462	T;T	0.04194	3.68;3.68	5.84	4.9	0.64082	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.13628	0.0330	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.01146	-1.1437	10	0.56958	D	0.05	-13.7049	16.0756	0.80967	0.0:0.8659:0.1341:0.0	.	972;972	G3XAE9;Q9Y4F4	.;F179B_HUMAN	C	972	ENSP00000355045:S972C;ENSP00000354917:S972C	ENSP00000354917:S972C	S	+	2	0	FAM179B	44547876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.662000	0.54510	2.751000	0.94390	0.655000	0.94253	TCT		0.338	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1		XM_113781		21	47	0	0	0	0.008871	0	21	47		
SIPA1L1	26037	broad.mit.edu	37	14	72125097	72125097	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:72125097G>A	ENST00000555818.1	+	6	2389	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E156K|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E681K|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E681K	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	681	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				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)		CAAAGATTATGAAATTATGTT	0.348																																						uc001xms.2		NaN																	0				ovary(3)|breast(1)	4						c.(2041-2043)GAA>AAA		signal-induced proliferation-associated 1 like							87.0	81.0	83.0					14																	72125097		2203	4300	6503	SO:0001583	missense	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.chr14:72125097G>A	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.2041G>A	14.37:g.72125097G>A	ENSP00000450832:p.Glu681Lys					SIPA1L1_uc001xmt.2_Missense_Mutation_p.E681K|SIPA1L1_uc001xmu.2_Missense_Mutation_p.E681K|SIPA1L1_uc001xmv.2_Missense_Mutation_p.E681K|SIPA1L1_uc010ttm.1_Missense_Mutation_p.E156K	p.E681K	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)	6	2389	+			681			Rap-GAP.		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.2041G>A	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	36	5.605430	0.96626	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413;ENST00000555066	D;D;D;D;D	0.96745	-4.11;-4.11;-4.11;-4.11;-4.11	5.95	5.95	0.96441	Rap/ran-GAP (2);	0.042687	0.85682	D	0.000000	D	0.98887	0.9623	H	0.96460	3.825	0.80722	D	1	D;P;D;D;D	0.76494	0.967;0.708;0.999;0.982;0.997	P;P;D;P;D	0.79108	0.841;0.728;0.973;0.841;0.992	D	0.99120	1.0849	10	0.87932	D	0	-27.6776	20.3747	0.98911	0.0:0.0:1.0:0.0	.	156;681;156;681;681	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	K	681;681;681;156;197	ENSP00000370630:E681K;ENSP00000450832:E681K;ENSP00000351352:E681K;ENSP00000440682:E156K;ENSP00000452450:E197K	ENSP00000351352:E681K	E	+	1	0	SIPA1L1	71194850	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.869000	0.99810	2.817000	0.96982	0.563000	0.77884	GAA		0.348	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1		NM_015556		20	35	0	0	0	0.00333	0	20	35		
LTBP2	4053	broad.mit.edu	37	14	75017811	75017811	+	Nonsense_Mutation	SNP	G	G	A	rs137854855		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:75017811G>A	ENST00000261978.4	-	7	2028	c.1642C>T	c.(1642-1644)Cga>Tga	p.R548*	CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_5'UTR|LTBP2_ENST00000556690.1_Nonsense_Mutation_p.R548*	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	548					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGCAGTCCTCGAGGCCTGGGT	0.652																																						uc001xqa.2		NaN																	0				liver(1)|skin(1)	2						c.(1642-1644)CGA>TGA		latent transforming growth factor beta binding							34.0	37.0	36.0					14																	75017811		2203	4300	6503	SO:0001587	stop_gained	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75017811G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.1642C>T	14.37:g.75017811G>A	ENSP00000261978:p.Arg548*						p.R548*	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	7	2029	-			548					Q99907|Q9NS51	Nonsense_Mutation	SNP	ENST00000261978.4	37	c.1642C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	40	8.512993	0.98843	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	.	.	.	4.73	1.34	0.21922	.	2.246270	0.02146	N	0.057590	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	7.178	0.25755	0.1934:0.1505:0.6561:0.0	.	.	.	.	X	548	.	ENSP00000261978:R548X	R	-	1	2	LTBP2	74087564	0.014000	0.17966	0.129000	0.21949	0.890000	0.51754	1.841000	0.39240	0.466000	0.27193	0.462000	0.41574	CGA		0.652	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1		NM_000428		15	39	0	0	0	0.003163	0	15	39		
TRIP11	9321	broad.mit.edu	37	14	92471361	92471361	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:92471361G>C	ENST00000267622.4	-	11	3332	c.2959C>G	c.(2959-2961)Caa>Gaa	p.Q987E		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	987					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTATCTGTTTGAATGTCCTGT	0.333			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NaN		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(2959-2961)CAA>GAA		thyroid hormone receptor interactor 11							74.0	75.0	74.0					14																	92471361		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471361G>C	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2959C>G	14.37:g.92471361G>C	ENSP00000267622:p.Gln987Glu					TRIP11_uc010auf.1_Missense_Mutation_p.Q723E	p.Q987E	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	3747	-			987			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.2959C>G	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.608|7.608	0.674256|0.674256	0.14841|0.14841	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.04917|.	3.53|.	5.95|5.95	5.04|5.04	0.67666|0.67666	.|.	0.617589|.	0.17227|.	N|.	0.182090|.	T|.	0.39759|.	0.1090|.	L|L	0.27053|0.27053	0.805|0.805	0.27753|0.27753	N|N	0.944071|0.944071	B;B|.	0.29301|.	0.241;0.061|.	B;B|.	0.28011|.	0.085;0.015|.	T|.	0.28933|.	-1.0028|.	10|.	0.11794|.	T|.	0.64|.	.|.	16.9669|16.9669	0.86288|0.86288	0.0:0.1277:0.8723:0.0|0.0:0.1277:0.8723:0.0	.|.	723;987|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	E|X	987;723|702	ENSP00000267622:Q987E|.	ENSP00000267622:Q987E|.	Q|S	-|-	1|2	0|0	TRIP11|TRIP11	91541114|91541114	0.994000|0.994000	0.37717|0.37717	0.079000|0.079000	0.20413|0.20413	0.535000|0.535000	0.34838|0.34838	4.002000|4.002000	0.57053|0.57053	1.478000|1.478000	0.48253|0.48253	0.563000|0.563000	0.77884|0.77884	CAA|TCA		0.333	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1				15	36	0	0	0	0.003163	0	15	36		
SERPINA12	145264	broad.mit.edu	37	14	94964104	94964104	+	Missense_Mutation	SNP	G	G	C	rs61757459	byFrequency	TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:94964104G>C	ENST00000341228.2	-	3	1426	c.631C>G	c.(631-633)Cga>Gga	p.R211G	SERPINA12_ENST00000556881.1_Missense_Mutation_p.R211G	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	211					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GCCTTACCTCGAAAGAAAATA	0.408																																						uc001ydj.2		NaN																	0				central_nervous_system(2)|ovary(1)|lung(1)	4						c.(631-633)CGA>GGA		serine (or cysteine) proteinase inhibitor, clade							61.0	60.0	60.0					14																	94964104		2203	4300	6503	SO:0001583	missense	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94964104G>C	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.631C>G	14.37:g.94964104G>C	ENSP00000342109:p.Arg211Gly						p.R211G	NM_173850	NP_776249	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	3	1427	-			211						Missense_Mutation	SNP	ENST00000341228.2	37	c.631C>G	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805032	0.50315	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.88277	-2.36;-2.36	5.38	5.38	0.77491	Serpin domain (3);	1.156130	0.06436	N	0.725125	D	0.90810	0.7114	M	0.82517	2.595	0.41617	D	0.988943	P	0.49253	0.921	P	0.44860	0.462	D	0.87557	0.2469	10	0.72032	D	0.01	.	7.4262	0.27100	0.084:0.0:0.703:0.213	.	211	Q8IW75	SPA12_HUMAN	G	211	ENSP00000451738:R211G;ENSP00000342109:R211G	ENSP00000342109:R211G	R	-	1	2	SERPINA12	94033857	1.000000	0.71417	0.181000	0.23098	0.806000	0.45545	4.323000	0.59221	2.507000	0.84556	0.655000	0.94253	CGA		0.408	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1		NM_173850		14	41	0	0	0	0.001855	0	14	41		
RTL1	388015	broad.mit.edu	37	14	101349412	101349412	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:101349412C>G	ENST00000534062.1	-	1	1772	c.1714G>C	c.(1714-1716)Gat>Cat	p.D572H	MIR431_ENST00000385266.1_RNA|MIR127_ENST00000384876.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR136_ENST00000385207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	572					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GTCTCATCATCTGCTTCCTTC	0.572																																						uc010txj.1		NaN																	0				pancreas(1)	1						c.(1714-1716)GAT>CAT		retrotransposon-like 1							58.0	54.0	55.0					14																	101349412		1568	3582	5150	SO:0001583	missense	388015							g.chr14:101349412C>G		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.1714G>C	14.37:g.101349412C>G	ENSP00000435342:p.Asp572His					uc001yig.3_RNA|MIR127_hsa-mir-127|MI0000472_RNA|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	p.D572H	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN			1	1773	-			572					E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	c.1714G>C	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.201676	0.58234	.	.	ENSG00000254656	ENST00000534062	T	0.26067	1.76	3.43	3.43	0.39272	.	0.000000	0.35615	N	0.003087	T	0.47040	0.1424	M	0.73598	2.24	0.29323	N	0.867226	D	0.76494	0.999	D	0.73380	0.98	T	0.40136	-0.9579	10	0.72032	D	0.01	.	10.6799	0.45809	0.0:1.0:0.0:0.0	.	572	E9PKS8	.	H	572	ENSP00000435342:D572H	ENSP00000435342:D572H	D	-	1	0	RTL1	100419165	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.917000	0.39996	2.227000	0.72691	0.591000	0.81541	GAT		0.572	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1		NM_001134888		7	13	0	0	0	0.00308	0	7	13		
AHNAK2	113146	broad.mit.edu	37	14	105413526	105413526	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:105413526C>A	ENST00000333244.5	-	7	8381	c.8262G>T	c.(8260-8262)aaG>aaT	p.K2754N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2754						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGTTGGGGCCCTTAACATCTA	0.612																																						uc010axc.1		NaN																	0				ovary(1)	1						c.(8260-8262)AAG>AAT		AHNAK nucleoprotein 2							125.0	138.0	134.0					14																	105413526		1851	4080	5931	SO:0001583	missense	113146					nucleus		g.chr14:105413526C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8262G>T	14.37:g.105413526C>A	ENSP00000353114:p.Lys2754Asn					AHNAK2_uc001ypx.2_Missense_Mutation_p.K2654N	p.K2754N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	8382	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2754					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.8262G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	1.648	-0.514652	0.04200	.	.	ENSG00000185567	ENST00000333244	T	0.02280	4.36	2.49	-3.11	0.05299	.	.	.	.	.	T	0.01800	0.0057	L	0.49513	1.565	0.09310	N	1	P	0.41784	0.762	B	0.37304	0.246	T	0.41574	-0.9501	9	0.17832	T	0.49	.	1.259	0.01997	0.1242:0.2674:0.2385:0.3699	.	2754	Q8IVF2	AHNK2_HUMAN	N	2754	ENSP00000353114:K2754N	ENSP00000353114:K2754N	K	-	3	2	AHNAK2	104484571	0.000000	0.05858	0.007000	0.13788	0.009000	0.06853	-1.520000	0.02241	-0.433000	0.07286	-0.683000	0.03753	AAG		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420		100	172	1	0	4.31119e-35	0.00361	4.63053e-35	100	172		
ACTC1	70	broad.mit.edu	37	15	35083368	35083368	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr15:35083368C>G	ENST00000290378.4	-	6	1592	c.937G>C	c.(937-939)Gat>Cat	p.D313H	ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	313					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TGCATACGATCAGCAATACCA	0.443																																						uc001ziu.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2	GRCh37	CM086760	ACTC1	M		c.(937-939)GAT>CAT		cardiac muscle alpha actin 1 proprotein							328.0	292.0	304.0					15																	35083368		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35083368C>G	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.937G>C	15.37:g.35083368C>G	ENSP00000290378:p.Asp313His					uc001zit.1_Intron	p.D313H	NM_005159	NP_005150	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	6	1180	-		all_lung(180;2.3e-08)	313					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.937G>C	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981156	0.53827	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.94931	-3.56	5.49	5.49	0.81192	.	0.000000	0.53938	U	0.000051	D	0.97829	0.9287	M	0.88181	2.935	0.80722	D	1	P	0.50943	0.94	D	0.77557	0.99	D	0.98206	1.0470	10	0.87932	D	0	.	19.745	0.96248	0.0:1.0:0.0:0.0	.	313	P68032	ACTC_HUMAN	H	313;278	ENSP00000290378:D313H	ENSP00000290378:D313H	D	-	1	0	ACTC1	32870660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.624000	0.83124	2.736000	0.93811	0.655000	0.94253	GAT		0.443	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3		NM_005159		77	152	0	0	0	0.00361	0	77	152		
RPUSD2	27079	broad.mit.edu	37	15	40864067	40864067	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr15:40864067G>A	ENST00000315616.7	+	2	909	c.871G>A	c.(871-873)Gag>Aag	p.E291K	RPUSD2_ENST00000559271.1_Missense_Mutation_p.E230K	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	291					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TGCAGTCTCTGAGAGAATTCA	0.552																																						uc001zmd.1		NaN																	0				skin(1)	1						c.(871-873)GAG>AAG		RNA pseudouridylate synthase domain containing							92.0	94.0	93.0					15																	40864067		2203	4300	6503	SO:0001583	missense	27079				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr15:40864067G>A	AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"""RNA pseudouridylate synthase domain containing"""	24180	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 19"""	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.871G>A	15.37:g.40864067G>A	ENSP00000323288:p.Glu291Lys						p.E291K	NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)	2	871	+		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	291					B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Missense_Mutation	SNP	ENST00000315616.7	37	c.871G>A	CCDS10061.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129593	0.56721	.	.	ENSG00000166133	ENST00000315616;ENST00000417769	T	0.13657	2.57	6.17	6.17	0.99709	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.140352	0.64402	D	0.000009	T	0.06645	0.0170	N	0.04880	-0.145	0.40281	D	0.978392	B	0.12013	0.005	B	0.17098	0.017	T	0.41502	-0.9505	10	0.26408	T	0.33	-26.1683	8.1392	0.31073	0.1799:0.0:0.8201:0.0	.	291	Q8IZ73	RUSD2_HUMAN	K	291;270	ENSP00000323288:E291K	ENSP00000323288:E291K	E	+	1	0	RPUSD2	38651359	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	2.670000	0.46833	2.941000	0.99782	0.655000	0.94253	GAG		0.552	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252308.2		NM_152260		31	81	0	0	0	0.003755	0	31	81		
CTDSPL2	51496	broad.mit.edu	37	15	44778881	44778881	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr15:44778881C>T	ENST00000260327.4	+	4	1021	c.458C>T	c.(457-459)tCa>tTa	p.S153L	CTDSPL2_ENST00000396780.1_Missense_Mutation_p.S153L|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.S153L|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.S153L	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	153							phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		AACTTTTTTTCACCAGCAAAT	0.303																																						uc001ztr.2		NaN																	0					0						c.(457-459)TCA>TTA		CTD (carboxy-terminal domain, RNA polymerase II,							78.0	86.0	83.0					15																	44778881		2198	4297	6495	SO:0001583	missense	51496						phosphoprotein phosphatase activity	g.chr15:44778881C>T	AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.458C>T	15.37:g.44778881C>T	ENSP00000260327:p.Ser153Leu					CTDSPL2_uc001zts.2_Missense_Mutation_p.S153L|CTDSPL2_uc001ztt.2_Missense_Mutation_p.S153L|CTDSPL2_uc010bdv.2_Missense_Mutation_p.S153L	p.S153L	NM_016396	NP_057480	Q05D32	CTSL2_HUMAN		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)	4	874	+		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	153					Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Missense_Mutation	SNP	ENST00000260327.4	37	c.458C>T	CCDS10110.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080419	0.76528	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	D;D	0.88046	-2.33;-2.33	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.89955	0.6865	L	0.32530	0.975	0.34820	D	0.738619	D;P	0.57899	0.981;0.92	D;B	0.69142	0.962;0.386	D	0.89628	0.3853	10	0.27082	T	0.32	-10.7183	19.9653	0.97262	0.0:1.0:0.0:0.0	.	153;153	Q05D32-2;Q05D32	.;CTSL2_HUMAN	L	153	ENSP00000260327:S153L;ENSP00000380000:S153L	ENSP00000260327:S153L	S	+	2	0	CTDSPL2	42566173	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.181000	0.77682	2.716000	0.92895	0.585000	0.79938	TCA		0.303	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1		NM_016396		22	80	0	0	0	0.00333	0	22	80		
BCL2L10	10017	broad.mit.edu	37	15	52402123	52402123	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr15:52402123C>A	ENST00000561198.1	-	2	648	c.607G>T	c.(607-609)Gag>Tag	p.E203*	BCL2L10_ENST00000260442.3_Missense_Mutation_p.W179C			Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	0					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|female gamete generation (GO:0007292)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		GCTGTTTTCTCCAAAAAGCCA	0.438																																						uc002abq.2		NaN																	0					0						c.(535-537)TGG>TGT		BCL2-like 10 (apoptosis facilitator)							98.0	110.0	106.0					15																	52402123		2195	4293	6488	SO:0001587	stop_gained	10017				activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding	g.chr15:52402123C>A	AF285092	CCDS10148.1	15q21	2007-03-02			ENSG00000137875	ENSG00000137875			993	protein-coding gene	gene with protein product		606910				9829980, 9878060	Standard	NM_020396		Approved	Diva, Boo, BCL-B	uc002abq.3	Q9HD36	OTTHUMG00000131893	ENST00000561198.1:c.607G>T	15.37:g.52402123C>A	ENSP00000453562:p.Glu203*						p.W179C	NM_020396	NP_065129	Q9HD36	B2L10_HUMAN		all cancers(107;0.0148)	2	586	-			169					Q3SX80|Q52LQ9|Q8TCS9	Missense_Mutation	SNP	ENST00000561198.1	37	c.537G>T		.	.	.	.	.	.	.	.	.	.	C	11.39	1.625529	0.28889	.	.	ENSG00000137875	ENST00000260442	T	0.33438	1.41	3.77	2.86	0.33363	.	0.891410	0.09468	N	0.798043	T	0.41903	0.1179	L	0.34521	1.04	0.45452	D	0.998423	D	0.89917	1.0	D	0.76575	0.988	T	0.28996	-1.0026	10	0.87932	D	0	.	7.3144	0.26493	0.0:0.882:0.0:0.118	.	169	Q9HD36	B2L10_HUMAN	C	179	ENSP00000260442:W179C	ENSP00000260442:W179C	W	-	3	0	BCL2L10	50189415	0.067000	0.21026	0.090000	0.20809	0.008000	0.06430	1.591000	0.36665	1.188000	0.43014	-0.136000	0.14681	TGG		0.438	BCL2L10-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000419386.1				65	110	1	0	1.63498e-16	0.00361	1.72416e-16	65	110		
TCF12	6938	broad.mit.edu	37	15	57545488	57545488	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr15:57545488G>C	ENST00000267811.5	+	15	1521	c.1217G>C	c.(1216-1218)aGa>aCa	p.R406T	TCF12_ENST00000438423.2_Missense_Mutation_p.R430T|TCF12_ENST00000343827.3_Missense_Mutation_p.R236T|TCF12_ENST00000333725.5_Missense_Mutation_p.R430T|TCF12_ENST00000559703.1_Missense_Mutation_p.R64T|TCF12_ENST00000452095.2_Missense_Mutation_p.R426T|TCF12_ENST00000543579.1_Missense_Mutation_p.R260T|TCF12_ENST00000559710.1_Missense_Mutation_p.R40T|TCF12_ENST00000537840.1_Missense_Mutation_p.R170T|TCF12_ENST00000557843.1_Missense_Mutation_p.R406T|TCF12_ENST00000560764.1_3'UTR	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	406					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CGTTTAGACAGACTGGATGAT	0.443			T	TEC	extraskeletal myxoid chondrosarcoma																																	uc002aec.2		NaN		Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma		0				central_nervous_system(5)|ovary(2)|lung(1)	8						c.(1216-1218)AGA>ACA		transcription factor 12 isoform b							169.0	132.0	144.0					15																	57545488		2192	4292	6484	SO:0001583	missense	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57545488G>C	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1217G>C	15.37:g.57545488G>C	ENSP00000267811:p.Arg406Thr					TCF12_uc010ugm.1_Missense_Mutation_p.R458T|TCF12_uc010ugn.1_Missense_Mutation_p.R426T|TCF12_uc002aea.2_Missense_Mutation_p.R430T|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Missense_Mutation_p.R430T|TCF12_uc002aed.2_Missense_Mutation_p.R406T|TCF12_uc002aee.2_Missense_Mutation_p.R236T|TCF12_uc010bft.2_Missense_Mutation_p.R260T|TCF12_uc010ugo.1_Missense_Mutation_p.R170T|TCF12_uc010ugp.1_Missense_Mutation_p.R64T|TCF12_uc010ugq.1_Missense_Mutation_p.R40T|TCF12_uc010ugr.1_Missense_Mutation_p.R19T	p.R406T	NM_207038	NP_996921	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	15	1501	+		Colorectal(260;0.0907)	406					Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	c.1217G>C	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.639639	0.87760	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.76877	0.4049	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.993;0.997;0.983;0.99;1.0;0.998;0.989;0.981;0.989	D;D;D;P;D;D;D;D;D;D	0.87578	0.996;0.977;0.989;0.806;0.957;0.998;0.995;0.985;0.966;0.985	T	0.74383	-0.3683	10	0.44086	T	0.13	-8.2833	20.3081	0.98638	0.0:0.0:1.0:0.0	.	426;40;260;170;426;458;260;236;406;430	B4DGI9;B4DZP2;B4DH96;B4E1W1;E9PGY0;F5H6Z6;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;.;.;HTF4_HUMAN;.	T	458;406;430;426;430;260;170;236;19	ENSP00000267811:R406T;ENSP00000388940:R430T;ENSP00000396881:R426T;ENSP00000331057:R430T;ENSP00000440017:R260T;ENSP00000444696:R170T;ENSP00000342459:R236T	ENSP00000267811:R406T	R	+	2	0	TCF12	55332780	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.817000	0.99352	2.795000	0.96236	0.655000	0.94253	AGA		0.443	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3		NM_003205		23	66	0	0	0	0.005443	0	23	66		
CRAMP1L	57585	broad.mit.edu	37	16	1712505	1712505	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:1712505C>G	ENST00000397412.3	+	12	2527	c.2428C>G	c.(2428-2430)Cca>Gca	p.P810A	CRAMP1L_ENST00000436138.3_Missense_Mutation_p.P807A|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.P810A|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.P188A			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	810						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GAGAAACCCTCCAAGACCCCT	0.547																																						uc010uvh.1		NaN																	0					0						c.(2428-2430)CCA>GCA		Crm, cramped-like							94.0	98.0	96.0					16																	1712505		1937	4134	6071	SO:0001583	missense	57585					nucleus	DNA binding	g.chr16:1712505C>G	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.2428C>G	16.37:g.1712505C>G	ENSP00000380559:p.Pro810Ala					CRAMP1L_uc002cmf.2_RNA	p.P810A	NM_020825	NP_065876	Q96RY5	CRML_HUMAN			11	2428	+			810					A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	c.2428C>G	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110937	0.77210	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.67078	0.2855	L	0.36672	1.1	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.68014	-0.5521	9	0.62326	D	0.03	-23.4519	13.9999	0.64427	0.0:0.9276:0.0:0.0724	.	810	Q96RY5	CRML_HUMAN	A	810;810;807;188	.	ENSP00000262317:P188A	P	+	1	0	CRAMP1L	1652506	1.000000	0.71417	0.987000	0.45799	0.982000	0.71751	3.905000	0.56333	2.735000	0.93741	0.655000	0.94253	CCA		0.547	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4				52	98	0	0	0	0.00361	0	52	98		
CREBBP	1387	broad.mit.edu	37	16	3819201	3819201	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:3819201C>T	ENST00000262367.5	-	15	3843	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K	CREBBP_ENST00000382070.3_Missense_Mutation_p.E974K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1012					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E1012K(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCTTTGGATTCACCAGGATCG	0.592			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NaN		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(3034-3036)GAA>AAA		CREB binding protein isoform a							111.0	93.0	99.0					16																	3819201		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3819201C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3034G>A	16.37:g.3819201C>T	ENSP00000262367:p.Glu1012Lys					CREBBP_uc002cvw.2_Missense_Mutation_p.E974K	p.E1012K	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	15	3238	-		Ovarian(90;0.0266)	1012					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.3034G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.482398	0.26598	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83506	-1.73;-1.67	5.45	4.5	0.54988	.	0.076279	0.53938	D	0.000046	T	0.74023	0.3662	L	0.34521	1.04	0.35789	D	0.82225	B;B	0.14438	0.01;0.01	B;B	0.12156	0.007;0.007	T	0.72347	-0.4321	10	0.21014	T	0.42	-2.225	13.5983	0.62004	0.0:0.9251:0.0:0.0749	.	1042;1012	Q4LE28;Q92793	.;CBP_HUMAN	K	1012;1042;974	ENSP00000262367:E1012K;ENSP00000371502:E974K	ENSP00000262367:E1012K	E	-	1	0	CREBBP	3759202	0.984000	0.35163	0.016000	0.15963	0.292000	0.27327	2.725000	0.47294	1.437000	0.47472	-0.142000	0.14014	GAA		0.592	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2		NM_004380		36	57	0	0	0	0.005524	0	36	57		
SEC14L5	9717	broad.mit.edu	37	16	5040888	5040888	+	Missense_Mutation	SNP	G	G	A	rs190855004	byFrequency	TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:5040888G>A	ENST00000251170.7	+	5	646	c.466G>A	c.(466-468)Gtc>Atc	p.V156I		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	156	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CACCGCCAACGTCAAGAGGGT	0.537													G|||	2	0.000399361	0.0	0.0	5008	,	,		20173	0.0		0.002	False		,,,				2504	0.0					uc002cye.2		NaN																	0					0						c.(466-468)GTC>ATC		SEC14-like 5		G	ILE/VAL	1,4251		0,1,2125	35.0	37.0	36.0		466	-0.8	0.7	16		36	0,8464		0,0,4232	no	missense	SEC14L5	NM_014692.1	29	0,1,6357	AA,AG,GG		0.0,0.0235,0.0079	benign	156/697	5040888	1,12715	2126	4232	6358	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5040888G>A	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.466G>A	16.37:g.5040888G>A	ENSP00000251170:p.Val156Ile						p.V156I	NM_014692	NP_055507	O43304	S14L5_HUMAN			5	646	+			156			PRELI/MSF1.			Missense_Mutation	SNP	ENST00000251170.7	37	c.466G>A	CCDS45403.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	2.216	-0.379647	0.05000	2.35E-4	0.0	ENSG00000103184	ENST00000251170	T	0.17370	2.28	4.37	-0.761	0.11038	PRELI/MSF1 (2);	0.468895	0.18546	N	0.138058	T	0.03053	0.0090	N	0.00408	-1.53	0.33503	D	0.590159	B	0.06786	0.001	B	0.09377	0.004	T	0.48305	-0.9047	10	0.02654	T	1	-24.0712	9.0802	0.36547	0.7878:0.0:0.2122:0.0	.	156	O43304	S14L5_HUMAN	I	156	ENSP00000251170:V156I	ENSP00000251170:V156I	V	+	1	0	SEC14L5	4980889	0.997000	0.39634	0.723000	0.30687	0.778000	0.44026	3.313000	0.51935	-0.144000	0.11314	-0.300000	0.09419	GTC		0.537	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1				4	7	0	0	0	0.009096	0	4	7		
PLK1	5347	broad.mit.edu	37	16	23690256	23690256	+	Start_Codon_SNP	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:23690256G>A	ENST00000300093.4	+	1	114	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	1					activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TCGGGAGCATGAGTGCTGCAG	0.682																																					Colon(12;240 564 27038 33155)	uc002dlz.1		NaN																	0				lung(1)|skin(1)	2						c.(1-3)ATG>ATA		polo-like kinase 1							3.0	4.0	4.0					16																	23690256		1957	3929	5886	SO:0001582	initiator_codon_variant	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23690256G>A		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.3G>A	16.37:g.23690256G>A	ENSP00000300093:p.Met1Ile						p.M1I	NM_005030	NP_005021	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	1	56	+			1					Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.3G>A	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003860	0.35320	.	.	ENSG00000166851	ENST00000300093;ENST00000330792	D	0.86627	-2.15	3.82	3.82	0.43975	.	0.094831	0.44902	D	0.000405	T	0.81278	0.4789	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.79596	-0.1738	9	0.87932	D	0	-26.72	9.6235	0.39737	0.0:0.2139:0.7861:0.0	.	1	P53350	PLK1_HUMAN	I	1	ENSP00000300093:M1I	ENSP00000300093:M1I	M	+	3	0	PLK1	23597757	0.752000	0.28338	0.992000	0.48379	0.367000	0.29736	1.223000	0.32527	2.125000	0.65367	0.561000	0.74099	ATG		0.682	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2		NM_005030	Missense_Mutation	3	3	0	0	0	0.004672	0	3	3		
TNRC6A	27327	broad.mit.edu	37	16	24800967	24800967	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:24800967C>T	ENST00000395799.3	+	6	1133	c.1004C>T	c.(1003-1005)tCt>tTt	p.S335F	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S335F	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	335	Interaction with argonaute family proteins.|Ser-rich.|Sufficient for interaction with AGO1, AGO3 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GAAAGCAAATCTGAAAGTAGC	0.438																																						uc002dmm.2		NaN																	0				ovary(2)	2						c.(1003-1005)TCT>TTT		trinucleotide repeat containing 6A							77.0	76.0	76.0					16																	24800967		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24800967C>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.1004C>T	16.37:g.24800967C>T	ENSP00000379144:p.Ser335Phe					TNRC6A_uc010bxs.2_Missense_Mutation_p.S82F|TNRC6A_uc010vcc.1_Missense_Mutation_p.S82F|TNRC6A_uc002dmn.2_Missense_Mutation_p.S82F|TNRC6A_uc002dmo.2_Missense_Mutation_p.S82F	p.S335F	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	1118	+			335			Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Ser-rich.|Sufficient for interaction with EIF2C2.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.1004C>T	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669295	0.29604	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.12879	2.64;2.65	5.84	5.84	0.93424	.	0.603207	0.17277	N	0.180146	T	0.19087	0.0458	L	0.43152	1.355	0.80722	D	1	P;P;P	0.46142	0.763;0.873;0.651	B;B;B	0.42851	0.323;0.4;0.172	T	0.00790	-1.1565	10	0.54805	T	0.06	0.4378	20.1393	0.98055	0.0:1.0:0.0:0.0	.	82;335;335	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	F	335	ENSP00000326900:S335F;ENSP00000379144:S335F	ENSP00000326900:S335F	S	+	2	0	TNRC6A	24708468	0.997000	0.39634	0.557000	0.28306	0.865000	0.49528	3.774000	0.55341	2.759000	0.94783	0.563000	0.77884	TCT		0.438	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1		NM_020847		39	49	0	0	0	0.004878	0	39	49		
CCDC101	112869	broad.mit.edu	37	16	28601977	28601977	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:28601977G>C	ENST00000317058.3	+	8	779	c.592G>C	c.(592-594)Gaa>Caa	p.E198Q		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	198	SGF29 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00851}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|SAGA-type complex (GO:0070461)	methylated histone binding (GO:0035064)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						CATCGATGAAGAAGGCAAAGA	0.577																																						uc002dqf.2		NaN																	0				central_nervous_system(1)	1						c.(592-594)GAA>CAA		coiled-coil domain containing 101							187.0	171.0	177.0					16																	28601977		2197	4300	6497	SO:0001583	missense	112869				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding	g.chr16:28601977G>C	AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476			25156	protein-coding gene	gene with protein product	"""SAGA-associated factor 29 homolog (yeast)"""	613374				17334388	Standard	NM_138414		Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.592G>C	16.37:g.28601977G>C	ENSP00000316114:p.Glu198Gln					uc010vct.1_Intron	p.E198Q	NM_138414	NP_612423	Q96ES7	SGF29_HUMAN			8	777	+			198			SGF29 C-terminal.		Q96MF5	Missense_Mutation	SNP	ENST00000317058.3	37	c.592G>C	CCDS10635.1	.	.	.	.	.	.	.	.	.	.	.	17.30	3.355141	0.61293	.	.	ENSG00000176476	ENST00000317058	.	.	.	5.29	5.29	0.74685	SGF29 tudor-like domain (2);	0.124610	0.53938	D	0.000050	T	0.66228	0.2768	M	0.86420	2.815	0.80722	D	1	P	0.41524	0.753	B	0.34242	0.178	T	0.75388	-0.3335	9	0.66056	D	0.02	.	16.4172	0.83745	0.0:0.0:1.0:0.0	.	198	Q96ES7	SGF29_HUMAN	Q	198	.	ENSP00000316114:E198Q	E	+	1	0	CCDC101	28509478	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	6.770000	0.74990	2.480000	0.83734	0.655000	0.94253	GAA		0.577	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254691.1		NM_138414		77	138	0	0	0	0.00361	0	77	138		
CDH11	1009	broad.mit.edu	37	16	65032529	65032529	+	Silent	SNP	A	A	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:65032529A>G	ENST00000268603.4	-	4	1074	c.459T>C	c.(457-459)aaT>aaC	p.N153N	CDH11_ENST00000566827.1_Silent_p.N27N|CDH11_ENST00000394156.3_Silent_p.N153N	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	153	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GAGGGTTGTCATTAATGTCCT	0.582			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2		NaN		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				lung(10)|ovary(3)|skin(1)	14						c.(457-459)AAT>AAC		cadherin 11, type 2 preproprotein							146.0	123.0	131.0					16																	65032529		2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65032529A>G	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.459T>C	16.37:g.65032529A>G		TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.N153N|CDH11_uc010vin.1_Silent_p.N27N|CDH11_uc010vio.1_Silent_p.N153N	p.N153N	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	4	893	-		Ovarian(137;0.0973)	153			Extracellular (Potential).|Cadherin 1.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.459T>C	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	A	9.982	1.228455	0.22542	.	.	ENSG00000140937	ENST00000536902	.	.	.	5.24	-1.15	0.09709	.	.	.	.	.	T	0.67211	0.2869	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67780	-0.5582	5	0.87932	D	0	.	10.1067	0.42537	0.6428:0.0:0.3572:0.0	.	.	.	.	T	147	.	ENSP00000442264:M147T	M	-	2	0	CDH11	63590030	0.999000	0.42202	0.993000	0.49108	0.996000	0.88848	0.785000	0.26830	-0.310000	0.08766	-0.274000	0.10170	ATG		0.582	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1		NM_033664		29	55	0	0	0	0.008361	0	29	55		
CDH5	1003	broad.mit.edu	37	16	66432402	66432402	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:66432402G>A	ENST00000341529.3	+	10	1677	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	510	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	ATAACACCACGAAACGTGAAG	0.488																																						uc002eom.3		NaN																	0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(1528-1530)CGA>CAA		cadherin 5, type 2 preproprotein							158.0	133.0	141.0					16																	66432402		2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66432402G>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1529G>A	16.37:g.66432402G>A	ENSP00000344115:p.Arg510Gln						p.R510Q	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	10	1685	+		Ovarian(137;0.0955)	510			Cadherin 5.|Extracellular (Potential).		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1529G>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	2.184	-0.386871	0.04966	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262	T	0.51071	0.72	4.95	-9.89	0.00464	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.18759	0.0450	N	0.11427	0.14	0.09310	N	0.999998	B	0.06786	0.001	B	0.13407	0.009	T	0.17198	-1.0377	9	0.41790	T	0.15	.	1.5735	0.02620	0.3967:0.1893:0.2596:0.1543	.	510	P33151	CADH5_HUMAN	Q	510;395;251	ENSP00000344115:R510Q	ENSP00000344115:R510Q	R	+	2	0	CDH5	64989903	0.000000	0.05858	0.000000	0.03702	0.161000	0.22273	-2.423000	0.01030	-2.349000	0.00618	-0.459000	0.05422	CGA		0.488	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1		NM_001795		16	35	0	0	0	0.004007	0	16	35		
PARD6A	50855	broad.mit.edu	37	16	67696116	67696116	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:67696116G>A	ENST00000219255.3	+	3	687	c.607G>A	c.(607-609)Gct>Act	p.A203T	ENKD1_ENST00000602409.1_5'Flank|PARD6A_ENST00000458121.2_Missense_Mutation_p.A202T|ACD_ENST00000219251.8_5'Flank|PARD6A_ENST00000602551.1_Missense_Mutation_p.A173T|ACD_ENST00000393919.4_5'Flank			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	203	Interaction with PARD3 and CDC42. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGGGGGTCTGGCTGAGAGTAC	0.597																																						uc002ett.2		NaN																	0				ovary(1)	1						c.(607-609)GCT>ACT		par-6 partitioning defective 6 homolog alpha							105.0	96.0	99.0					16																	67696116		2198	4300	6498	SO:0001583	missense	50855				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding	g.chr16:67696116G>A		CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"""par-6 (partitioning defective 6, C.elegans) homolog alpha"", ""par-6 partitioning defective 6 homolog alpha (C. elegans)"""			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.607G>A	16.37:g.67696116G>A	ENSP00000219255:p.Ala203Thr					ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Missense_Mutation_p.A202T|PARD6A_uc002etu.2_Missense_Mutation_p.A27T	p.A203T	NM_016948	NP_058644	Q9NPB6	PAR6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	3	698	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	203			PDZ.|Interaction with PARD3 and CDC42 (By similarity).		O14911|Q9NPJ7	Missense_Mutation	SNP	ENST00000219255.3	37	c.607G>A	CCDS10843.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055712	0.93793	.	.	ENSG00000102981	ENST00000458121;ENST00000219255	T;T	0.44482	0.92;0.92	5.39	5.39	0.77823	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.78329	0.4266	H	0.97415	4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.86469	0.1784	10	0.87932	D	0	-9.1773	18.7537	0.91825	0.0:0.0:1.0:0.0	.	203;202	Q9NPB6;Q9NPB6-2	PAR6A_HUMAN;.	T	202;203	ENSP00000392388:A202T;ENSP00000219255:A203T	ENSP00000219255:A203T	A	+	1	0	PARD6A	66253617	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.509000	0.84616	0.563000	0.77884	GCT		0.597	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268863.2		NM_016948		39	67	0	0	0	0.005524	0	39	67		
NFAT5	10725	broad.mit.edu	37	16	69693744	69693744	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:69693744C>G	ENST00000354436.2	+	6	1575	c.1257C>G	c.(1255-1257)atC>atG	p.I419M	NFAT5_ENST00000566899.1_Missense_Mutation_p.I343M|NFAT5_ENST00000349945.1_Missense_Mutation_p.I343M|NFAT5_ENST00000393742.2_Missense_Mutation_p.I343M|NFAT5_ENST00000432919.1_Missense_Mutation_p.I437M|NFAT5_ENST00000567239.1_Missense_Mutation_p.I437M	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	419	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GAGTTAATATCATGAGGAAAG	0.398																																						uc002exm.1		NaN																	0					0						c.(1255-1257)ATC>ATG		nuclear factor of activated T-cells 5 isoform c							155.0	151.0	152.0					16																	69693744		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69693744C>G	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1257C>G	16.37:g.69693744C>G	ENSP00000346420:p.Ile419Met					NFAT5_uc002exh.1_Missense_Mutation_p.I213M|NFAT5_uc002exi.2_Missense_Mutation_p.I343M|NFAT5_uc002exj.1_Missense_Mutation_p.I343M|NFAT5_uc002exk.1_Missense_Mutation_p.I343M|NFAT5_uc002exl.1_Missense_Mutation_p.I437M|NFAT5_uc002exn.1_Missense_Mutation_p.I437M	p.I419M	NM_006599	NP_006590	O94916	NFAT5_HUMAN			6	2465	+			419			RHD.		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.1257C>G	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343256	0.61073	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	4.85	3.89	0.44902	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.62672	0.2447	M	0.72894	2.215	0.80722	D	1	P;D;D;P	0.59767	0.922;0.963;0.986;0.467	P;P;P;B	0.60415	0.798;0.848;0.874;0.398	T	0.66578	-0.5888	10	0.66056	D	0.02	.	12.8975	0.58108	0.0:0.9204:0.0:0.0795	.	437;419;437;343	A2RRB4;O94916;E9PHR7;O94916-2	.;NFAT5_HUMAN;.;.	M	437;437;343;419;343	ENSP00000396538:I437M;ENSP00000338806:I343M;ENSP00000346420:I419M;ENSP00000377343:I343M	ENSP00000338806:I343M	I	+	3	3	NFAT5	68251245	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	4.003000	0.57061	1.043000	0.40175	0.305000	0.20034	ATC		0.398	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2		NM_138714		46	61	0	0	0	0.003214	0	46	61		
HYDIN	54768	broad.mit.edu	37	16	70934909	70934909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:70934909C>A	ENST00000393567.2	-	53	9196	c.9046G>T	c.(9046-9048)Gag>Tag	p.E3016*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3016					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.E2967*(1)|p.E3015*(1)|p.E573*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCCTCACCTCCAACCGAATA	0.532																																						uc002ezr.2		NaN																	3	Substitution - Nonsense(3)		lung(3)	ovary(1)|skin(1)	2						c.(9043-9045)GAG>TAG		hydrocephalus inducing isoform a							77.0	77.0	77.0					16																	70934909		1896	4090	5986	SO:0001587	stop_gained	54768							g.chr16:70934909C>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.9046G>T	16.37:g.70934909C>A	ENSP00000377197:p.Glu3016*						p.E3015*	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			53	9171	-		Ovarian(137;0.0654)	3016					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	ENST00000393567.2	37	c.9043G>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	50	16.344892	0.99861	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	.	.	.	4.39	4.39	0.52855	.	0.000000	0.33253	U	0.005119	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	16.894	0.86095	0.0:1.0:0.0:0.0	.	.	.	.	X	3016;3015	.	ENSP00000313052:E3015X	E	-	1	0	HYDIN	69492410	1.000000	0.71417	0.979000	0.43373	0.399000	0.30720	7.352000	0.79404	2.153000	0.67306	0.195000	0.17529	GAG		0.532	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3				24	181	1	0	1.414e-09	0.003755	1.4645e-09	24	181		
VPS9D1	9605	broad.mit.edu	37	16	89779125	89779125	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:89779125C>T	ENST00000389386.3	-	5	556		c.e5-1		VPS9D1_ENST00000565452.1_5'Flank|VPS9D1_ENST00000561976.1_Splice_Site|VPS9D1-AS1_ENST00000562866.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1						ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										CGTCAGCTCTCTGGAAATGTG	0.607																																						uc002fom.1		NaN																	0					0						c.e5-1		chromosome 16 open reading frame 7							36.0	40.0	39.0					16																	89779125		1936	4145	6081	SO:0001630	splice_region_variant	9605				ATP synthesis coupled proton transport		GTPase activator activity|transporter activity	g.chr16:89779125C>T	AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.432-1G>A	16.37:g.89779125C>T						C16orf7_uc002fol.1_Splice_Site_p.K74_splice|uc002fon.1_RNA	p.K144_splice	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	5	557	-		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)							Splice_Site	SNP	ENST00000389386.3	37	c.432_splice	CCDS42220.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306260	0.81247	.	.	ENSG00000075399	ENST00000389386;ENST00000261625	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5297	0.75948	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C16orf7	88306626	1.000000	0.71417	0.996000	0.52242	0.917000	0.54804	6.768000	0.74980	2.326000	0.78906	0.555000	0.69702	.		0.607	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422508.1		NM_004913	Intron	9	26	0	0	0	0.004482	0	9	26		
FANCA	2175	broad.mit.edu	37	16	89845229	89845229	+	Silent	SNP	C	C	T	rs550064744		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:89845229C>T	ENST00000389301.3	-	20	1836	c.1806G>A	c.(1804-1806)gcG>gcA	p.A602A	FANCA_ENST00000568369.1_Silent_p.A602A|FANCA_ENST00000567284.2_5'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	602					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		ACTCTATAAACGCCACACGGG	0.478			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				C|||	1	0.000199681	0.0008	0.0	5008	,	,		17213	0.0		0.0	False		,,,				2504	0.0					uc002fou.1		NaN	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	D|Mis|N|F|S	"""Fanconi anemia, complementation group A"""			L		AML|leukemia			0				ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(1804-1806)GCG>GCA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group A isoform							89.0	92.0	91.0					16																	89845229		2198	4300	6498	SO:0001819	synonymous_variant	2175	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89845229C>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1806G>A	16.37:g.89845229C>T						FANCA_uc010vpn.1_Silent_p.A602A	p.A602A	NM_000135	NP_000126	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	20	1848	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	602					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	c.1806G>A	CCDS32515.1																																																																																				0.478	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1				44	84	0	0	0	0.00361	0	44	84		
FANCA	2175	broad.mit.edu	37	16	89858462	89858462	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:89858462C>T	ENST00000389301.3	-	13	1128	c.1098G>A	c.(1096-1098)ctG>ctA	p.L366L	FANCA_ENST00000568369.1_Silent_p.L366L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	366					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CCTCTGCACTCAGCATCACAA	0.527			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc002fou.1		NaN	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	D|Mis|N|F|S	"""Fanconi anemia, complementation group A"""			L		AML|leukemia			0				ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(1096-1098)CTG>CTA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group A isoform							113.0	106.0	108.0					16																	89858462		2198	4300	6498	SO:0001819	synonymous_variant	2175	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89858462C>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1098G>A	16.37:g.89858462C>T						FANCA_uc010vpn.1_Silent_p.L366L	p.L366L	NM_000135	NP_000126	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	13	1140	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	366					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	c.1098G>A	CCDS32515.1																																																																																				0.527	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1				21	73	0	0	0	0.002299	0	21	73		
VPS53	55275	broad.mit.edu	37	17	617947	617947	+	Start_Codon_SNP	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:617947C>G	ENST00000571805.1	-	1	139	c.3G>C	c.(1-3)atG>atC	p.M1I	VPS53_ENST00000401468.3_Start_Codon_SNP_p.M1I|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000574029.1_Start_Codon_SNP_p.M1I|VPS53_ENST00000291074.5_Start_Codon_SNP_p.M1I|VPS53_ENST00000437048.2_Start_Codon_SNP_p.M1I			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	1					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		CCTCCTCCATCATTCCGCCAC	0.706																																						uc002frn.2		NaN																	0					0						c.(1-3)ATG>ATC		vacuolar protein sorting 53 isoform 2							53.0	56.0	55.0					17																	617947		2203	4300	6503	SO:0001582	initiator_codon_variant	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:617947C>G		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.3G>C	17.37:g.617947C>G	ENSP00000459312:p.Met1Ile					VPS53_uc010cjo.1_Missense_Mutation_p.M1I|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.M1I|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Missense_Mutation_p.M1I	p.M1I	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	1	150	-			1					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37	c.3G>C		.	.	.	.	.	.	.	.	.	.	C	20.1	3.935662	0.73442	.	.	ENSG00000141252	ENST00000437048;ENST00000291074;ENST00000401468;ENST00000389040	T;T;T;T	0.45276	1.62;1.51;0.9;1.57	4.78	4.78	0.61160	.	0.215137	0.56097	D	0.000034	T	0.51719	0.1691	.	.	.	0.80722	D	1	P;P;P;P	0.39044	0.525;0.656;0.525;0.656	B;P;B;P	0.48627	0.38;0.584;0.38;0.584	T	0.56129	-0.8030	9	0.87932	D	0	-25.8078	13.1881	0.59693	0.0:1.0:0.0:0.0	.	1;1;1;1	E7EVT8;Q5VIR6-4;Q5VIR6;Q5VIR6-2	.;.;VPS53_HUMAN;.	I	1	ENSP00000401435:M1I;ENSP00000291074:M1I;ENSP00000384294:M1I;ENSP00000373692:M1I	ENSP00000291074:M1I	M	-	3	0	VPS53	564697	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	5.236000	0.65354	2.474000	0.83562	0.591000	0.81541	ATG		0.706	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2		NM_018289	Missense_Mutation	35	79	0	0	0	0.004289	0	35	79		
CLEC10A	10462	broad.mit.edu	37	17	6979314	6979314	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:6979314G>A	ENST00000254868.4	-	6	838	c.510C>T	c.(508-510)ctC>ctT	p.L170L	CLEC10A_ENST00000571664.1_Silent_p.L143L|CLEC10A_ENST00000416562.2_Silent_p.L143L|CLEC10A_ENST00000576617.1_Silent_p.L143L	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	170					endocytosis (GO:0006897)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CATTGTTGTTGAGAGTAGCCA	0.547																																						uc002gek.2		NaN																	0					0						c.(508-510)CTC>CTT		C-type lectin, superfamily member 14 isoform 1							85.0	75.0	79.0					17																	6979314		2203	4300	6503	SO:0001819	synonymous_variant	10462				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding	g.chr17:6979314G>A	D50532	CCDS11087.1, CCDS45597.1	17p13.2	2014-05-20	2005-02-09	2005-02-11		ENSG00000132514		"""C-type lectin domain containing"", ""CD molecules"""	16916	protein-coding gene	gene with protein product	"""macrophage lectin 2 (calcium dependent)"""	605999	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived)"""	CLECSF13, CLECSF14		8598452	Standard	XM_005256411		Approved	HML2, HML, CD301	uc002gej.3	Q8IUN9		ENST00000254868.4:c.510C>T	17.37:g.6979314G>A						CLEC10A_uc002gej.2_Silent_p.L143L|CLEC10A_uc002gel.2_Silent_p.L143L|CLEC10A_uc010clv.1_Silent_p.L143L	p.L170L	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN			6	813	-			170			Extracellular (Potential).|Potential.		A8K8J8|Q14538|Q6PIW3	Silent	SNP	ENST00000254868.4	37	c.510C>T	CCDS11087.1																																																																																				0.547	CLEC10A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439837.2		NM_006344		27	51	0	0	0	0.00632	0	27	51		
CLEC10A	10462	broad.mit.edu	37	17	6980295	6980295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:6980295G>A	ENST00000254868.4	-	4	524	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	CLEC10A_ENST00000571664.1_Nonsense_Mutation_p.Q66*|CLEC10A_ENST00000416562.2_Nonsense_Mutation_p.Q66*|CLEC10A_ENST00000576617.1_Nonsense_Mutation_p.Q66*	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	66					endocytosis (GO:0006897)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						AGGTCCCTCTGAAATTTGGAA	0.517																																						uc002gek.2		NaN																	0					0						c.(196-198)CAG>TAG		C-type lectin, superfamily member 14 isoform 1							78.0	79.0	79.0					17																	6980295		2203	4300	6503	SO:0001587	stop_gained	10462				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding	g.chr17:6980295G>A	D50532	CCDS11087.1, CCDS45597.1	17p13.2	2014-05-20	2005-02-09	2005-02-11		ENSG00000132514		"""C-type lectin domain containing"", ""CD molecules"""	16916	protein-coding gene	gene with protein product	"""macrophage lectin 2 (calcium dependent)"""	605999	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived)"""	CLECSF13, CLECSF14		8598452	Standard	XM_005256411		Approved	HML2, HML, CD301	uc002gej.3	Q8IUN9		ENST00000254868.4:c.196C>T	17.37:g.6980295G>A	ENSP00000254868:p.Gln66*					CLEC10A_uc002gej.2_Nonsense_Mutation_p.Q66*|CLEC10A_uc002gel.2_Nonsense_Mutation_p.Q66*|CLEC10A_uc010clv.1_Nonsense_Mutation_p.Q66*	p.Q66*	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN			4	499	-			66			Extracellular (Potential).		A8K8J8|Q14538|Q6PIW3	Nonsense_Mutation	SNP	ENST00000254868.4	37	c.196C>T	CCDS11087.1	.	.	.	.	.	.	.	.	.	.	G	39	7.530703	0.98342	.	.	ENSG00000132514	ENST00000254868;ENST00000416562	.	.	.	4.86	3.86	0.44501	.	0.798993	0.10886	N	0.623261	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	12.1266	0.53920	0.0:0.0:0.821:0.179	.	.	.	.	X	66	.	ENSP00000254868:Q66X	Q	-	1	0	CLEC10A	6921019	0.009000	0.17119	0.040000	0.18447	0.683000	0.39861	1.790000	0.38734	1.335000	0.45486	0.650000	0.86243	CAG		0.517	CLEC10A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439837.2		NM_006344		32	47	0	0	0	0.002096	0	32	47		
ALOX12B	242	broad.mit.edu	37	17	7984221	7984221	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:7984221G>A	ENST00000319144.4	-	4	768	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	ALOX12B_ENST00000577351.1_5'Flank|AC129492.6_ENST00000399413.3_3'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	170	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TTGGGGTTGCGATGCCTCCGC	0.652										Multiple Myeloma(8;0.094)																												uc002gjy.1		NaN																	0					0						c.(508-510)CGC>TGC		arachidonate 12-lipoxygenase, 12R type							73.0	72.0	72.0					17																	7984221		2203	4300	6503	SO:0001583	missense	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7984221G>A	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.508C>T	17.37:g.7984221G>A	ENSP00000315167:p.Arg170Cys	Multiple Myeloma(8;0.094)				uc010cnq.1_RNA	p.R170C	NM_001139	NP_001130	O75342	LX12B_HUMAN			4	769	-			170			Lipoxygenase.			Missense_Mutation	SNP	ENST00000319144.4	37	c.508C>T	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	G	4.074	0.011594	0.07912	.	.	ENSG00000179477	ENST00000319144	D	0.90004	-2.6	3.18	2.15	0.27550	Lipoxygenase, C-terminal (2);	0.503154	0.17486	N	0.172538	T	0.79423	0.4443	N	0.22421	0.69	0.09310	N	0.999995	B	0.18741	0.03	B	0.09377	0.004	T	0.70285	-0.4914	10	0.87932	D	0	-16.3566	7.5045	0.27536	0.0:0.0:0.7435:0.2565	.	170	O75342	LX12B_HUMAN	C	170	ENSP00000315167:R170C	ENSP00000315167:R170C	R	-	1	0	ALOX12B	7924946	0.911000	0.30947	0.375000	0.26029	0.027000	0.11550	1.585000	0.36600	0.615000	0.30124	0.555000	0.69702	CGC		0.652	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3				59	95	0	0	0	0.00361	0	59	95		
DNAH9	1770	broad.mit.edu	37	17	11607583	11607583	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:11607583G>C	ENST00000262442.4	+	25	5283	c.5215G>C	c.(5215-5217)Gag>Cag	p.E1739Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1739Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1739	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCCAGGCTGGAGGAAGGCTA	0.512																																						uc002gne.2		NaN																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(5215-5217)GAG>CAG		dynein, axonemal, heavy chain 9 isoform 2							120.0	114.0	116.0					17																	11607583		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11607583G>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5215G>C	17.37:g.11607583G>C	ENSP00000262442:p.Glu1739Gln					DNAH9_uc010coo.2_Missense_Mutation_p.E1033Q	p.E1739Q	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	25	5283	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1739			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.5215G>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542112	0.85917	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.28255	1.66;1.62	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.46249	0.1383	M	0.78456	2.415	0.80722	D	1	P	0.47677	0.899	P	0.49332	0.607	T	0.36866	-0.9730	10	0.40728	T	0.16	.	15.3829	0.74673	0.0681:0.0:0.9319:0.0	.	1739	Q9NYC9	DYH9_HUMAN	Q	1739;1739;321	ENSP00000262442:E1739Q;ENSP00000414874:E1739Q	ENSP00000262442:E1739Q	E	+	1	0	DNAH9	11548308	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.291000	0.72719	2.813000	0.96785	0.655000	0.94253	GAG		0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2		NM_001372		39	86	0	0	0	0.006999	0	39	86		
SMCR8	140775	broad.mit.edu	37	17	18221435	18221435	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:18221435C>A	ENST00000406438.3	+	1	2812	c.2332C>A	c.(2332-2334)Cag>Aag	p.Q778K		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	778						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TATGGATTTTCAGAAGTGGAA	0.527																																						uc002gsy.3		NaN																	0				central_nervous_system(1)	1						c.(2332-2334)CAG>AAG		Smith-Magenis syndrome chromosome region,							114.0	114.0	114.0					17																	18221435		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18221435C>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.2332C>A	17.37:g.18221435C>A	ENSP00000385025:p.Gln778Lys						p.Q778K	NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN			1	2842	+			778					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.2332C>A	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807384	0.90623	.	.	ENSG00000176994	ENST00000406438	T	0.24723	1.84	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	L	0.51422	1.61	0.58432	D	0.999998	D	0.67145	0.996	P	0.60012	0.867	T	0.04128	-1.0975	10	0.34782	T	0.22	-18.4651	19.861	0.96785	0.0:1.0:0.0:0.0	.	778	Q8TEV9	SMCR8_HUMAN	K	778	ENSP00000385025:Q778K	ENSP00000385025:Q778K	Q	+	1	0	SMCR8	18162160	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.398000	0.79919	2.767000	0.95098	0.655000	0.94253	CAG		0.527	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2		NM_144775		47	92	1	0	1.38658e-30	0.00361	1.48379e-30	47	92		
PSMD11	5717	broad.mit.edu	37	17	30807212	30807212	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:30807212C>T	ENST00000261712.3	+	12	1386	c.1123C>T	c.(1123-1125)Cat>Tat	p.H375Y	PSMD11_ENST00000457654.2_Missense_Mutation_p.H375Y	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	375	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			CAAGAAATTTCATGGTAAGTA	0.408																																					Ovarian(130;1038 1716 9294 11987 19279)	uc010cta.1		NaN																	0				ovary(1)	1						c.(1123-1125)CAT>TAT		proteasome 26S non-ATPase subunit 11							124.0	118.0	120.0					17																	30807212		2203	4300	6503	SO:0001583	missense	5717				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding	g.chr17:30807212C>T	AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"""Proteasome (prosome, macropain) subunits"""	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.1123C>T	17.37:g.30807212C>T	ENSP00000261712:p.His375Tyr					PSMD11_uc002hhm.2_Missense_Mutation_p.H375Y	p.H375Y	NM_002815	NP_002806	O00231	PSD11_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		12	1163	+		Breast(31;0.159)|Ovarian(249;0.182)	375			PCI.		A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	ENST00000261712.3	37	c.1123C>T	CCDS11272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.824|6.824	0.521084|0.521084	0.13005|0.13005	.|.	.|.	ENSG00000108671|ENSG00000108671	ENST00000261712|ENST00000457654	T|.	0.30182|.	1.54|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.49457|0.49457	0.1558|0.1558	N|N	0.15975|0.15975	0.35|0.35	0.58432|0.58432	D|D	0.999996|0.999996	B|.	0.02656|.	0.0|.	B|.	0.14023|.	0.01|.	T|T	0.41910|0.41910	-0.9482|-0.9482	10|5	0.02654|.	T|.	1|.	-8.8689|-8.8689	16.6457|16.6457	0.85176|0.85176	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	375|.	O00231|.	PSD11_HUMAN|.	Y|L	375|112	ENSP00000261712:H375Y|.	ENSP00000261712:H375Y|.	H|S	+|+	1|2	0|0	PSMD11|PSMD11	27831325|27831325	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	5.932000|5.932000	0.70121|0.70121	2.782000|2.782000	0.95742|0.95742	0.557000|0.557000	0.71058|0.71058	CAT|TCA		0.408	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256252.2		NM_002815		46	81	0	0	0	0.00361	0	46	81		
GAS2L2	246176	broad.mit.edu	37	17	34079687	34079687	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:34079687C>T	ENST00000254466.6	-	1	210	c.183G>A	c.(181-183)acG>acA	p.T61T	GAS2L2_ENST00000587565.1_Silent_p.T61T	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	61	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCACCAGGCCCGTTTCCAGCA	0.627																																						uc002hjv.1		NaN																	0				ovary(1)|skin(1)	2						c.(181-183)ACG>ACA		growth arrest-specific 2 like 2							85.0	69.0	75.0					17																	34079687		2203	4300	6503	SO:0001819	synonymous_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34079687C>T	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.183G>A	17.37:g.34079687C>T							p.T61T	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	211	-		Ovarian(249;0.17)	61			CH.		Q8NHY4	Silent	SNP	ENST00000254466.6	37	c.183G>A	CCDS11298.1																																																																																				0.627	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1		NM_139285		25	51	0	0	0	0.00333	0	25	51		
ACACA	31	broad.mit.edu	37	17	35614640	35614640	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:35614640C>T	ENST00000394406.2	-	14	1890	c.1700G>A	c.(1699-1701)aGa>aAa	p.R567K	ACACA_ENST00000335166.5_Missense_Mutation_p.R489K|ACACA_ENST00000353139.5_Missense_Mutation_p.R604K|ACACA_ENST00000360679.3_Missense_Mutation_p.R509K	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	567	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGCCTCTTCTCTGTTTTCTCC	0.378																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1699-1701)AGA>AAA		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						87.0	82.0	84.0					17																	35614640		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35614640C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1700G>A	17.37:g.35614640C>T	ENSP00000377928:p.Arg567Lys					ACACA_uc002hnk.2_Missense_Mutation_p.R489K|ACACA_uc002hnl.2_Missense_Mutation_p.R509K|ACACA_uc002hnn.2_Missense_Mutation_p.R567K|ACACA_uc002hno.2_Missense_Mutation_p.R604K|ACACA_uc010cuz.2_Missense_Mutation_p.R567K	p.R567K	NM_198836	NP_942133	Q13085	ACACA_HUMAN			14	1891	-		Breast(25;0.00157)|Ovarian(249;0.15)	567			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.1700G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	35	5.488671	0.96323	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93	5.93	5.93	0.95920	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95329	0.8484	H	0.96576	3.845	0.80722	D	1	P;D;D	0.71674	0.84;0.998;0.997	P;D;D	0.70227	0.607;0.968;0.947	D	0.96255	0.9186	10	0.87932	D	0	-12.1594	19.3421	0.94347	0.0:1.0:0.0:0.0	.	604;567;509	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	K	604;509;567;591;489	ENSP00000344789:R604K;ENSP00000353898:R509K;ENSP00000377928:R567K;ENSP00000335323:R489K	ENSP00000335323:R489K	R	-	2	0	ACACA	32688753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	AGA		0.378	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1		NM_198836		17	44	0	0	0	0.007413	0	17	44		
HELZ	9931	broad.mit.edu	37	17	65104787	65104787	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:65104787G>A	ENST00000358691.5	-	30	4711	c.4545C>T	c.(4543-4545)ttC>ttT	p.F1515F	HELZ_ENST00000580168.1_Silent_p.F1516F	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1515						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)					TCCACTGCTGGAACCGTGCCT	0.502																																						uc010wqk.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(4546-4548)TTC>TTT		helicase with zinc finger domain							104.0	116.0	112.0					17																	65104787		2182	4280	6462	SO:0001819	synonymous_variant	9931							g.chr17:65104787G>A	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.4545C>T	17.37:g.65104787G>A						HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Silent_p.F1515F|HELZ_uc010der.2_Silent_p.F59F	p.F1516F	NM_014877	NP_055692					30	4735	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Silent	SNP	ENST00000358691.5	37	c.4548C>T	CCDS42374.1																																																																																				0.502	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1		NM_014877		37	61	0	0	0	0.004878	0	37	61		
KIAA0195	9772	broad.mit.edu	37	17	73491426	73491426	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:73491426C>T	ENST00000314256.7	+	21	3184	c.2790C>T	c.(2788-2790)atC>atT	p.I930I	KIAA0195_ENST00000579208.1_Silent_p.I581I|KIAA0195_ENST00000375248.5_Silent_p.I940I|AC100787.1_ENST00000579379.1_RNA	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	930						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGACCTCATCAGCTTCCAGC	0.597																																						uc002jnz.3		NaN																	0				ovary(1)	1						c.(2788-2790)ATC>ATT		hypothetical protein LOC9772							71.0	67.0	68.0					17																	73491426		2203	4300	6503	SO:0001819	synonymous_variant	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73491426C>T		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2790C>T	17.37:g.73491426C>T						KIAA0195_uc010wsa.1_Silent_p.I940I|KIAA0195_uc010wsb.1_Silent_p.I570I|KIAA0195_uc002job.3_5'Flank	p.I930I	NM_014738	NP_055553	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		21	3065	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		930					O75536|Q86XF1	Silent	SNP	ENST00000314256.7	37	c.2790C>T	CCDS32732.1																																																																																				0.597	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1		NM_014738		16	53	0	0	0	0.007413	0	16	53		
EVPL	2125	broad.mit.edu	37	17	74005847	74005847	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr17:74005847C>T	ENST00000301607.3	-	22	3692	c.3439G>A	c.(3439-3441)Ggg>Agg	p.G1147R	EVPL_ENST00000586740.1_Missense_Mutation_p.G1169R	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1147	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGAGGAGCCCTGGGTCCTGC	0.632																																						uc002jqi.2		NaN																	0				pancreas(2)|central_nervous_system(1)|skin(1)	4						c.(3439-3441)GGG>AGG		envoplakin							41.0	41.0	41.0					17																	74005847		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005847C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.3439G>A	17.37:g.74005847C>T	ENSP00000301607:p.Gly1147Arg					EVPL_uc010wss.1_Missense_Mutation_p.G1169R|EVPL_uc010wst.1_Missense_Mutation_p.G617R	p.G1147R	NM_001988	NP_001979	Q92817	EVPL_HUMAN			22	3667	-			1147			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.3439G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.343079	0.24339	.	.	ENSG00000167880	ENST00000301607	T	0.41400	1.0	5.14	1.98	0.26296	.	0.405061	0.26407	N	0.024558	T	0.27313	0.0670	L	0.33485	1.01	0.20403	N	0.999901	B;B	0.14012	0.009;0.004	B;B	0.10450	0.005;0.005	T	0.18587	-1.0332	10	0.21014	T	0.42	-25.9843	8.2255	0.31566	0.0:0.7264:0.1296:0.144	.	1169;1147	B7ZLH8;Q92817	.;EVPL_HUMAN	R	1147	ENSP00000301607:G1147R	ENSP00000301607:G1147R	G	-	1	0	EVPL	71517442	0.356000	0.24930	0.014000	0.15608	0.943000	0.58893	1.682000	0.37628	0.184000	0.20083	0.485000	0.47835	GGG		0.632	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1		NM_001988		30	55	0	0	0	0.004878	0	30	55		
NDC80	10403	broad.mit.edu	37	18	2608705	2608705	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:2608705G>C	ENST00000261597.4	+	15	1746	c.1564G>C	c.(1564-1566)Gag>Cag	p.E522Q		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	522	Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						ATAGGAAGCAGAGGAAGAGGA	0.388																																						uc002kli.2		NaN																	0				ovary(1)	1						c.(1564-1566)GAG>CAG		kinetochore associated 2							97.0	92.0	94.0					18																	2608705		2203	4300	6503	SO:0001583	missense	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2608705G>C	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1564G>C	18.37:g.2608705G>C	ENSP00000261597:p.Glu522Gln						p.E522Q	NM_006101	NP_006092	O14777	NDC80_HUMAN			15	1746	+			522			Potential.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.|Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.		Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	c.1564G>C	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263019	0.59431	.	.	ENSG00000080986	ENST00000261597	T	0.41065	1.01	5.53	5.53	0.82687	.	0.047329	0.85682	D	0.000000	T	0.59018	0.2163	L	0.60455	1.87	0.51012	D	0.999907	D	0.76494	0.999	D	0.63488	0.915	T	0.50491	-0.8822	10	0.22706	T	0.39	-14.8684	19.0474	0.93027	0.0:0.0:1.0:0.0	.	522	O14777	NDC80_HUMAN	Q	522	ENSP00000261597:E522Q	ENSP00000261597:E522Q	E	+	1	0	NDC80	2598705	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	6.297000	0.72757	2.600000	0.87896	0.491000	0.48974	GAG		0.388	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1		NM_006101		24	40	0	0	0	0.005443	0	24	40		
CEP192	55125	broad.mit.edu	37	18	13068356	13068356	+	Splice_Site	SNP	A	A	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:13068356A>G	ENST00000325971.8	+	22	4563		c.e22-1		CEP192_ENST00000506447.1_Splice_Site|CEP192_ENST00000430049.2_Splice_Site			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa						centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTAATTTTATAGGATCCAGAA	0.294																																						uc010xac.1		NaN																	0				ovary(4)|pancreas(1)	5						c.e24-2		centrosomal protein 192kDa							61.0	64.0	63.0					18																	13068356		2203	4298	6501	SO:0001630	splice_region_variant	55125							g.chr18:13068356A>G	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2971-1A>G	18.37:g.13068356A>G						CEP192_uc010dlf.1_Splice_Site|CEP192_uc010xad.1_Splice_Site_p.D1112_splice|CEP192_uc002kru.2_Splice_Site|CEP192_uc002krv.2_Splice_Site_p.D9_splice|CEP192_uc002krw.2_5'Flank	p.D1587_splice	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			24	4839	+								A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Splice_Site	SNP	ENST00000325971.8	37	c.4759_splice		.	.	.	.	.	.	.	.	.	.	A	21.5	4.152845	0.78001	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.665	0.77221	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP192	13058356	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.011000	0.88624	2.156000	0.67533	0.528000	0.53228	.		0.294	CEP192-201	KNOWN	basic	protein_coding	protein_coding			NM_032142	Intron	18	27	0	0	0	0.006122	0	18	27		
TRAPPC8	22878	broad.mit.edu	37	18	29437531	29437531	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:29437531C>T	ENST00000283351.4	-	20	3495	c.3160G>A	c.(3160-3162)Gaa>Aaa	p.E1054K	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.E1000K	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1054					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTGACACTTTCATAGTAAAAC	0.348																																						uc002kxc.3		NaN																	0					0						c.(3160-3162)GAA>AAA		hypothetical protein LOC22878							40.0	39.0	40.0					18																	29437531		2203	4299	6502	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29437531C>T	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3160G>A	18.37:g.29437531C>T	ENSP00000283351:p.Glu1054Lys					KIAA1012_uc002kxb.3_Missense_Mutation_p.E1000K|KIAA1012_uc002kxd.3_RNA	p.E1054K	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN			20	3524	-			1054					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.3160G>A	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920633	0.33908	.	.	ENSG00000153339	ENST00000283351	T	0.19394	2.15	5.3	4.41	0.53225	.	0.149706	0.64402	D	0.000017	T	0.44767	0.1309	M	0.72894	2.215	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	T	0.44034	-0.9354	10	0.48119	T	0.1	.	16.1518	0.81626	0.0:0.8662:0.1338:0.0	.	1054	Q9Y2L5	TPPC8_HUMAN	K	1054	ENSP00000283351:E1054K	ENSP00000283351:E1054K	E	-	1	0	TRAPPC8	27691529	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.504000	0.53347	1.320000	0.45209	0.563000	0.77884	GAA		0.348	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1		NM_014939		18	37	0	0	0	0.007413	0	18	37		
SMAD2	4087	broad.mit.edu	37	18	45372078	45372078	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:45372078T>G	ENST00000402690.2	-	9	1485	c.1091A>C	c.(1090-1092)cAg>cCg	p.Q364P	SMAD2_ENST00000262160.6_Missense_Mutation_p.Q364P|SMAD2_ENST00000591214.1_Missense_Mutation_p.Q334P|SMAD2_ENST00000586040.1_Missense_Mutation_p.Q334P|SMAD2_ENST00000356825.4_Missense_Mutation_p.Q334P	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	364	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|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)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						GCCATATCTCTGATTACAATT	0.418																																						uc002lcy.2		NaN																	0				large_intestine(3)|lung(1)|central_nervous_system(1)	5						c.(1090-1092)CAG>CCG		Sma- and Mad-related protein 2 isoform 1							98.0	95.0	96.0					18																	45372078		2203	4300	6503	SO:0001583	missense	4087				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:45372078T>G	U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.1091A>C	18.37:g.45372078T>G	ENSP00000384449:p.Gln364Pro					SMAD2_uc002lcz.2_Missense_Mutation_p.Q364P|SMAD2_uc010xdc.1_Missense_Mutation_p.Q334P|SMAD2_uc010xdd.1_Missense_Mutation_p.Q334P	p.Q364P	NM_005901	NP_005892	Q15796	SMAD2_HUMAN			9	1339	-			364			MH2.			Missense_Mutation	SNP	ENST00000402690.2	37	c.1091A>C	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311007	0.60414	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	D;D;D	0.98822	-5.16;-5.16;-5.16	6.05	6.05	0.98169	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.96364	0.8814	N	0.17723	0.515	0.80722	D	1	B;B;B	0.25563	0.129;0.106;0.043	B;B;B	0.31016	0.123;0.035;0.086	D	0.94438	0.7656	10	0.46703	T	0.11	.	16.5932	0.84781	0.0:0.0:0.0:1.0	.	334;334;364	B7Z5N5;Q15796-2;Q15796	.;.;SMAD2_HUMAN	P	364;334;364	ENSP00000262160:Q364P;ENSP00000349282:Q334P;ENSP00000384449:Q364P	ENSP00000262160:Q364P	Q	-	2	0	SMAD2	43626076	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.040000	0.89188	2.320000	0.78422	0.528000	0.53228	CAG		0.418	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1		NM_005901		42	52	0	0	0	0.007835	0	42	52		
MYO5B	4645	broad.mit.edu	37	18	47379927	47379927	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:47379927C>T	ENST00000285039.7	-	31	4412	c.4113G>A	c.(4111-4113)gaG>gaA	p.E1371E	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.E486E	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1371					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GTTTGTCCATCTCCTCCTTCA	0.617																																						uc002leb.2		NaN																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(4111-4113)GAG>GAA		myosin VB							84.0	87.0	86.0					18																	47379927		2079	4221	6300	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47379927C>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.4113G>A	18.37:g.47379927C>T						MYO5B_uc002lea.2_Silent_p.E486E	p.E1371E	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	31	4401	-			1371			Potential.		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.4113G>A	CCDS42436.1																																																																																				0.617	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2				21	51	0	0	0	0.002299	0	21	51		
PIGN	23556	broad.mit.edu	37	18	59824982	59824982	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:59824982G>T	ENST00000357637.5	-	5	696	c.281C>A	c.(280-282)tCt>tAt	p.S94Y	PIGN_ENST00000400334.3_Missense_Mutation_p.S94Y	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	94					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				ACCTGGCCGAGATTCTGTTGG	0.378																																						uc002lii.3		NaN																	0				breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5						c.(280-282)TCT>TAT		phosphatidylinositol glycan anchor biosynthesis,							60.0	58.0	58.0					18																	59824982		1917	4152	6069	SO:0001583	missense	23556				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups	g.chr18:59824982G>T	AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.281C>A	18.37:g.59824982G>T	ENSP00000350263:p.Ser94Tyr					PIGN_uc002lij.3_Missense_Mutation_p.S94Y	p.S94Y	NM_176787	NP_789744	O95427	PIGN_HUMAN			5	729	-		Colorectal(73;0.187)	94			Lumenal (Potential).		Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	ENST00000357637.5	37	c.281C>A	CCDS45879.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953650	0.92660	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.47528	0.84;0.84	5.47	5.47	0.80525	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.78304	0.4262	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83543	0.0097	9	.	.	.	-23.9094	19.6948	0.96021	0.0:0.0:1.0:0.0	.	94;94	B2RCI8;O95427	.;PIGN_HUMAN	Y	94	ENSP00000350263:S94Y;ENSP00000383188:S94Y	.	S	-	2	0	PIGN	57975962	1.000000	0.71417	0.975000	0.42487	0.912000	0.54170	7.859000	0.86982	2.723000	0.93209	0.655000	0.94253	TCT		0.378	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2		NM_176787		5	20	1	0	0.000602214	0.000602	0.000606396	5	20		
SERPINB3	6317	broad.mit.edu	37	18	61328322	61328322	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:61328322T>A	ENST00000283752.5	-	2	272	c.129A>T	c.(127-129)ttA>ttT	p.L43F	SERPINB3_ENST00000332821.8_Missense_Mutation_p.L43F|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	43					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CTTTGGCTCCTAAGAGGACCA	0.438																																						uc002ljg.2		NaN																	0				ovary(2)|lung(1)	3						c.(127-129)TTA>TTT		SubName: Full=Squamous cell carcinoma antigen 2;							232.0	201.0	211.0					18																	61328322		2203	4300	6503	SO:0001583	missense	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61328322T>A	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.129A>T	18.37:g.61328322T>A	ENSP00000283752:p.Leu43Phe					SERPINB3_uc002lji.2_Missense_Mutation_p.L43F|SERPINB3_uc010dqa.2_Missense_Mutation_p.L43F|SERPINB3_uc010dqb.2_Missense_Mutation_p.L43F|SERPINB3_uc010dqc.2_Missense_Mutation_p.L43F	p.L43F			P48594	SPB4_HUMAN			1	155	-			43					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.129A>T	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.842494	0.32606	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.85484	-1.99;-1.99	3.26	-5.99	0.02213	Serpin domain (3);	0.000000	0.30920	N	0.008602	D	0.87212	0.6121	M	0.73430	2.235	0.19775	N	0.999954	D;P;D;P;P	0.89917	1.0;0.783;0.998;0.783;0.783	D;B;D;B;B	0.75484	0.979;0.205;0.986;0.205;0.205	T	0.79577	-0.1746	10	0.66056	D	0.02	.	5.2146	0.15336	0.1332:0.5419:0.1351:0.1898	.	43;43;43;43;43	B3W5Y6;A8K847;P29508-2;P29508;Q5K684	.;.;.;SPB3_HUMAN;.	F	43	ENSP00000283752:L43F;ENSP00000329498:L43F	ENSP00000283752:L43F	L	-	3	2	SERPINB3	59479302	0.006000	0.16342	0.001000	0.08648	0.006000	0.05464	-1.185000	0.03073	-1.345000	0.02214	0.454000	0.30748	TTA		0.438	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1		NM_006919		40	100	0	0	0	0.00361	0	40	100		
ZNF236	7776	broad.mit.edu	37	18	74616410	74616411	+	Missense_Mutation	DNP	AG	AG	GA			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:74616410_74616411AG>GA	ENST00000253159.8	+	12	2161_2162	c.1963_1964AG>GA	c.(1963-1965)AGa>GAa	p.R655E	ZNF236_ENST00000320610.9_Missense_Mutation_p.R657E	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	655					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)		TGAAGCAGATAGACCATACAAG	0.347																																						uc002lmi.2		NaN																	0				ovary(4)	4						c.(1963-1965)AGA>GAA		zinc finger protein 236																																				SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74616410_74616411AG>GA	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		Exception_encountered	18.37:g.74616410_74616411delinsGA	ENSP00000253159:p.Arg655Glu					ZNF236_uc002lmj.2_RNA	p.R655E	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	12	2161_2162	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	655					B2RTX9|Q9UL37	Missense_Mutation	DNP	ENST00000253159.8	37	c.1963_1964AG>GA	CCDS42447.1																																																																																				0.347	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1				18	23	0	0	0	0.004672	0	18	23		
PTPRS	5802	broad.mit.edu	37	19	5222225	5222225	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:5222225G>A	ENST00000587303.1	-	18	3209	c.3110C>T	c.(3109-3111)cCc>cTc	p.P1037L	PTPRS_ENST00000262963.6_Missense_Mutation_p.P1033L|PTPRS_ENST00000592099.1_Missense_Mutation_p.P606L|PTPRS_ENST00000372412.4_Missense_Mutation_p.P1038L|PTPRS_ENST00000348075.2_Missense_Mutation_p.P1015L|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1015L|PTPRS_ENST00000353284.2_Missense_Mutation_p.P606L|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1037L			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1037	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GAAGTTCTTGGGCGAGACTGC	0.607																																						uc002mbv.2		NaN																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(3109-3111)CCC>CTC		protein tyrosine phosphatase, receptor type,							98.0	88.0	91.0					19																	5222225		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5222225G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3110C>T	19.37:g.5222225G>A	ENSP00000467537:p.Pro1037Leu					PTPRS_uc002mbu.1_Missense_Mutation_p.P606L|PTPRS_uc010xin.1_Missense_Mutation_p.P606L|PTPRS_uc002mbw.2_Missense_Mutation_p.P1015L|PTPRS_uc002mbx.2_Missense_Mutation_p.P610L|PTPRS_uc002mby.2_Missense_Mutation_p.P606L	p.P1037L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	19	3344	-			1037			Extracellular (Potential).|Fibronectin type-III 8.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.3110C>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455057	0.63290	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	D;T;T;T;T	0.84146	-1.81;-1.3;-1.3;-1.3;0.02	3.41	3.41	0.39046	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.179093	0.36628	N	0.002486	D	0.88559	0.6469	L	0.46157	1.445	0.80722	D	1	P;P;D;B;P;D	0.62365	0.712;0.717;0.991;0.414;0.62;0.984	P;P;D;P;B;P	0.65010	0.559;0.476;0.931;0.546;0.41;0.704	D	0.89774	0.3956	10	0.62326	D	0.03	.	15.0519	0.71881	0.0:0.0:1.0:0.0	.	619;606;610;1015;1037;632	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	L	632;1038;1037;1037;1028;1033;1015;619;610;606	ENSP00000361489:P1038L;ENSP00000349932:P1037L;ENSP00000262963:P1033L;ENSP00000269907:P1015L;ENSP00000327313:P606L	ENSP00000262963:P1033L	P	-	2	0	PTPRS	5173225	1.000000	0.71417	0.987000	0.45799	0.967000	0.64934	9.185000	0.94900	1.740000	0.51718	0.558000	0.71614	CCC		0.607	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2				3	39	0	0	0	0.004672	0	3	39		
AP1M2	10053	broad.mit.edu	37	19	10689595	10689595	+	Silent	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:10689595G>C	ENST00000250244.6	-	8	943	c.861C>G	c.(859-861)tcC>tcG	p.S287S	AP1M2_ENST00000590923.1_Silent_p.S289S	NM_005498.4	NP_005489.2	Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	287	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein targeting (GO:0006605)|regulation of defense response to virus by virus (GO:0050690)|vesicle targeting (GO:0006903)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CGCGGCTGTGGGAGAACTTCT	0.512																																						uc002mpc.2		NaN																	0				ovary(2)	2						c.(859-861)TCC>TCG		adaptor-related protein complex 1, mu 2 subunit							53.0	54.0	54.0					19																	10689595		1924	4146	6070	SO:0001819	synonymous_variant	10053				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:10689595G>C	AF020797	CCDS45964.1	19p13.2	2008-10-07				ENSG00000129354			558	protein-coding gene	gene with protein product		607309				10338135	Standard	NM_005498		Approved	HSMU1B, mu2, AP1-mu2	uc002mpc.3	Q9Y6Q5		ENST00000250244.6:c.861C>G	19.37:g.10689595G>C						AP1M2_uc002mpd.2_Silent_p.S289S	p.S287S	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)		8	945	-			287			MHD.		B2RDV5|Q9BSI8	Silent	SNP	ENST00000250244.6	37	c.861C>G	CCDS45964.1																																																																																				0.512	AP1M2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452034.1				3	18	0	0	0	0.004672	0	3	18		
SMARCA4	6597	broad.mit.edu	37	19	11168977	11168977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:11168977C>T	ENST00000429416.3	+	32	4752	c.4471C>T	c.(4471-4473)Cga>Tga	p.R1491*	SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.R1460*|SMARCA4_ENST00000358026.2_Nonsense_Mutation_p.R1523*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.R1461*|SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.R1491*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.R1460*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.R1457*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.R1461*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.R1458*	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1491	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|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 transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R1491*(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCTGCCCTCGCGAAAGGAGCT	0.637			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NaN		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		3	Substitution - Nonsense(2)|Unknown(1)		lung(1)|liver(1)|central_nervous_system(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(4471-4473)CGA>TGA		SWI/SNF-related matrix-associated							65.0	56.0	59.0					19																	11168977		2203	4300	6503	SO:0001587	stop_gained	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11168977C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4471C>T	19.37:g.11168977C>T	ENSP00000395654:p.Arg1491*					SMARCA4_uc010dxp.2_Nonsense_Mutation_p.R1491*|SMARCA4_uc010dxo.2_Nonsense_Mutation_p.R1523*|SMARCA4_uc010dxq.2_Nonsense_Mutation_p.R1458*|SMARCA4_uc010dxr.2_Nonsense_Mutation_p.R1457*|SMARCA4_uc002mqj.3_Nonsense_Mutation_p.R1461*|SMARCA4_uc010dxs.2_Nonsense_Mutation_p.R1460*|SMARCA4_uc002mqh.3_Nonsense_Mutation_p.R581*	p.R1491*	NM_003072	NP_003063	P51532	SMCA4_HUMAN			31	4755	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1491			Bromo.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Nonsense_Mutation	SNP	ENST00000429416.3	37	c.4471C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	41	9.147408	0.99080	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	.	.	.	4.72	2.4	0.29515	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.3495	12.3193	0.54975	0.3053:0.6947:0.0:0.0	.	.	.	.	X	1491;1523;1525;1491;1458;1457;1460;1461	.	ENSP00000343896:R1491X	R	+	1	2	SMARCA4	11029977	0.900000	0.30661	0.809000	0.32408	0.610000	0.37248	1.847000	0.39299	1.166000	0.42689	0.561000	0.74099	CGA		0.637	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2		NM_003072		13	28	0	0	0	0.001368	0	13	28		
FKBP8	23770	broad.mit.edu	37	19	18650429	18650429	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:18650429C>G	ENST00000596558.2	-	3	503	c.394G>C	c.(394-396)Gag>Cag	p.E132Q	FKBP8_ENST00000597960.3_Missense_Mutation_p.E132Q|FKBP8_ENST00000453489.2_Missense_Mutation_p.E161Q|FKBP8_ENST00000608443.1_Missense_Mutation_p.E132Q|FKBP8_ENST00000222308.4_Missense_Mutation_p.E132Q|FKBP8_ENST00000610101.1_Intron			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	132	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GTGCCATTCTCCAGCGACGTC	0.667																																						uc002njk.1		NaN																	0				ovary(1)	1						c.(394-396)GAG>CAG		FK506-binding protein 8							125.0	129.0	128.0					19																	18650429		2203	4300	6503	SO:0001583	missense	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18650429C>G	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.394G>C	19.37:g.18650429C>G	ENSP00000472302:p.Glu132Gln					FKBP8_uc002nji.1_5'UTR|FKBP8_uc010xqi.1_Missense_Mutation_p.E161Q|FKBP8_uc002njj.1_Missense_Mutation_p.E132Q|FKBP8_uc002njl.1_Missense_Mutation_p.E132Q|FKBP8_uc002njm.1_Missense_Mutation_p.E132Q|FKBP8_uc010ebr.1_Intron|FKBP8_uc002njn.2_RNA	p.E132Q	NM_012181	NP_036313	Q14318	FKBP8_HUMAN			3	507	-			132			PPIase FKBP-type.		C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37	c.394G>C		.	.	.	.	.	.	.	.	.	.	C	15.69	2.906593	0.52333	.	.	ENSG00000105701	ENST00000222308;ENST00000453489	D;D	0.87334	-2.24;-2.24	3.5	3.5	0.40072	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.266935	0.35013	N	0.003508	D	0.89870	0.6840	L	0.52266	1.64	0.80722	D	1	D;D;D	0.65815	0.976;0.995;0.988	P;D;P	0.63597	0.625;0.916;0.564	D	0.89446	0.3727	10	0.41790	T	0.15	-25.2679	14.2036	0.65721	0.0:1.0:0.0:0.0	.	161;132;132	B7Z6M0;Q14318;Q14318-2	.;FKBP8_HUMAN;.	Q	132;161	ENSP00000222308:E132Q;ENSP00000388891:E161Q	ENSP00000222308:E132Q	E	-	1	0	FKBP8	18511429	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	2.164000	0.42387	1.786000	0.52430	0.561000	0.74099	GAG		0.667	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3		NM_012181		71	83	0	0	0	0.00361	0	71	83		
FKBP8	23770	broad.mit.edu	37	19	18650529	18650529	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:18650529C>T	ENST00000596558.2	-	3	403	c.294G>A	c.(292-294)ggG>ggA	p.G98G	FKBP8_ENST00000597960.3_Splice_Site_p.G98G|FKBP8_ENST00000453489.2_Splice_Site_p.G127G|FKBP8_ENST00000608443.1_Splice_Site_p.G98G|FKBP8_ENST00000222308.4_Splice_Site_p.G98G|FKBP8_ENST00000610101.1_Intron			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	98					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						ACAGCCCGTTCCCTGCCAGGG	0.662																																						uc002njk.1		NaN																	0				ovary(1)	1						c.(292-294)GGG>GGA		FK506-binding protein 8							82.0	86.0	85.0					19																	18650529		2203	4300	6503	SO:0001630	splice_region_variant	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18650529C>T	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.293-1G>A	19.37:g.18650529C>T						FKBP8_uc002nji.1_5'UTR|FKBP8_uc010xqi.1_Silent_p.G127G|FKBP8_uc002njj.1_Silent_p.G98G|FKBP8_uc002njl.1_Silent_p.G98G|FKBP8_uc002njm.1_Silent_p.G98G|FKBP8_uc010ebr.1_Intron|FKBP8_uc002njn.2_RNA	p.G98G	NM_012181	NP_036313	Q14318	FKBP8_HUMAN			3	407	-			98					C8C9T5|Q53GU3|Q7Z349|Q86YK6	Silent	SNP	ENST00000596558.2	37	c.294G>A																																																																																					0.662	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3		NM_012181	Silent	66	84	0	0	0	0.00361	0	66	84		
SUGP2	10147	broad.mit.edu	37	19	19136463	19136463	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:19136463G>A	ENST00000601879.1	-	3	991	c.694C>T	c.(694-696)Cag>Tag	p.Q232*	SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000337018.6_Nonsense_Mutation_p.Q232*|SUGP2_ENST00000600377.1_Nonsense_Mutation_p.Q246*|SUGP2_ENST00000452918.2_Nonsense_Mutation_p.Q232*			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	232					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						AGCAGGCCCTGAGTCTCCCCC	0.522																																						uc002nkx.2		NaN																	0					0						c.(694-696)CAG>TAG		splicing factor, arginine/serine-rich 14							101.0	96.0	98.0					19																	19136463		2203	4300	6503	SO:0001587	stop_gained	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19136463G>A	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.694C>T	19.37:g.19136463G>A	ENSP00000472286:p.Gln232*					SFRS14_uc002nkz.1_Nonsense_Mutation_p.Q246*|SFRS14_uc002nla.1_Nonsense_Mutation_p.Q232*|SFRS14_uc002nlb.2_Nonsense_Mutation_p.Q232*|SFRS14_uc010xqk.1_Intron	p.Q232*	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)		3	840	-			232					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Nonsense_Mutation	SNP	ENST00000601879.1	37	c.694C>T	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	G	35	5.561842	0.96527	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918	.	.	.	5.11	2.84	0.33178	.	0.205839	0.33327	N	0.005021	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-12.7282	6.6154	0.22774	0.0:0.1421:0.5447:0.3132	.	.	.	.	X	232	.	ENSP00000332373:Q232X	Q	-	1	0	SUGP2	18997463	0.828000	0.29307	0.980000	0.43619	0.879000	0.50718	2.718000	0.47236	1.120000	0.41904	0.313000	0.20887	CAG		0.522	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1		NM_001017392		36	37	0	0	0	0.004878	0	36	37		
ZNF682	91120	broad.mit.edu	37	19	20118011	20118011	+	Silent	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:20118011C>A	ENST00000397165.2	-	4	460	c.300G>T	c.(298-300)ctG>ctT	p.L100L	ZNF682_ENST00000397162.1_Silent_p.L68L|ZNF682_ENST00000597972.1_Silent_p.L106L|ZNF682_ENST00000358523.5_Silent_p.L68L|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000593468.1_3'UTR|ZNF682_ENST00000595736.1_Silent_p.L24L	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L100L(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						CATATCTTCTCAGTATCACTT	0.358																																						uc002noq.2		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)|pancreas(1)	2						c.(298-300)CTG>CTT		zinc finger protein 682 isoform 1							92.0	85.0	87.0					19																	20118011		1916	4170	6086	SO:0001819	synonymous_variant	91120				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20118011C>A	AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.300G>T	19.37:g.20118011C>A						ZNF682_uc002noo.2_Silent_p.L68L|ZNF682_uc002nop.2_Silent_p.L68L|ZNF682_uc010eck.2_Silent_p.L24L	p.L100L	NM_033196	NP_149973	O95780	ZN682_HUMAN			4	423	-			100					B3KU64|E9PFJ5|Q96JV9	Silent	SNP	ENST00000397165.2	37	c.300G>T	CCDS42533.1																																																																																				0.358	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1		NM_033196		9	5	1	0	7.48243e-07	0.006214	7.64051e-07	9	5		
ANKRD27	84079	broad.mit.edu	37	19	33096819	33096819	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:33096819C>G	ENST00000306065.4	-	24	2573	c.2415G>C	c.(2413-2415)aaG>aaC	p.K805N	SNORA68_ENST00000364518.1_RNA	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	805					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TGAGGTCCTTCTTATTGGGTT	0.512																																						uc002ntn.1		NaN																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(2413-2415)AAG>AAC		ankyrin repeat domain 27 (VPS9 domain)							158.0	151.0	153.0					19																	33096819		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33096819C>G	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.2415G>C	19.37:g.33096819C>G	ENSP00000304292:p.Lys805Asn						p.K805N	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN			24	2571	-	Esophageal squamous(110;0.137)		805			ANK 9.		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.2415G>C	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.051889	0.55218	.	.	ENSG00000105186	ENST00000306065	T	0.71698	-0.59	5.81	-2.19	0.07015	Ankyrin repeat-containing domain (4);	0.186840	0.36854	N	0.002376	T	0.64046	0.2563	L	0.33093	0.98	0.80722	D	1	P	0.49253	0.921	P	0.53185	0.72	T	0.59037	-0.7529	10	0.20046	T	0.44	-21.1634	11.915	0.52761	0.0:0.4021:0.0:0.5979	.	805	Q96NW4	ANR27_HUMAN	N	805	ENSP00000304292:K805N	ENSP00000304292:K805N	K	-	3	2	ANKRD27	37788659	0.978000	0.34361	0.924000	0.36721	0.738000	0.42128	0.023000	0.13533	-0.884000	0.03976	-0.143000	0.13931	AAG		0.512	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1		NM_032139		41	40	0	0	0	0.00874	0	41	40		
GPI	2821	broad.mit.edu	37	19	34868692	34868692	+	Missense_Mutation	SNP	G	G	A	rs148548669	byFrequency	TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:34868692G>A	ENST00000356487.5	+	6	780	c.539G>A	c.(538-540)cGc>cAc	p.R180H	GPI_ENST00000586425.1_Missense_Mutation_p.R180H|GPI_ENST00000415930.3_Missense_Mutation_p.R191H	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	180					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GGAGGTCCCCGCGTCTGGTAT	0.532																																						uc002nvg.1		NaN																	0				ovary(1)|kidney(1)	2						c.(538-540)CGC>CAC		glucose phosphate isomerase		G	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	86.0	82.0	83.0		539,572	4.8	0.9	19	dbSNP_134	83	0,8600		0,0,4300	no	missense,missense	GPI	NM_000175.3,NM_001184722.1	29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	180/559,191/570	34868692	2,13004	2203	4300	6503	SO:0001583	missense	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34868692G>A	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.539G>A	19.37:g.34868692G>A	ENSP00000348877:p.Arg180His					GPI_uc002nvf.2_Missense_Mutation_p.R219H|GPI_uc010xrv.1_Missense_Mutation_p.R191H|GPI_uc010xrw.1_Missense_Mutation_p.R152H|GPI_uc010edl.1_Missense_Mutation_p.R180H	p.R180H	NM_000175	NP_000166	P06744	G6PI_HUMAN			6	642	+	Esophageal squamous(110;0.162)		180					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	ENST00000356487.5	37	c.539G>A	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.391751	0.42410	4.54E-4	0.0	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.94138	-3.36;-3.36	5.82	4.79	0.61399	.	0.048916	0.85682	D	0.000000	D	0.91005	0.7171	L	0.53249	1.67	0.48762	D	0.999709	B;B;B;B	0.13594	0.001;0.008;0.007;0.0	B;B;B;B	0.14023	0.005;0.01;0.009;0.002	D	0.87603	0.2498	10	0.37606	T	0.19	-19.5253	14.6868	0.69055	0.0694:0.0:0.9306:0.0	.	152;191;163;180	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	H	191;180	ENSP00000405573:R191H;ENSP00000348877:R180H	ENSP00000348877:R180H	R	+	2	0	GPI	39560532	0.974000	0.33945	0.867000	0.34043	0.722000	0.41435	2.695000	0.47043	1.476000	0.48215	0.655000	0.94253	CGC		0.532	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3				34	53	0	0	0	0.005524	0	34	53		
LRFN1	57622	broad.mit.edu	37	19	39798949	39798949	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:39798949G>C	ENST00000248668.4	-	2	1639	c.1640C>G	c.(1639-1641)tCg>tGg	p.S547W		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	547						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GACGAGGACCGAGGCGACGAT	0.667																																						uc002okw.2		NaN																	0				ovary(2)	2						c.(1639-1641)TCG>TGG		leucine rich repeat and fibronectin type III							26.0	31.0	29.0					19																	39798949		2179	4283	6462	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39798949G>C	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1640C>G	19.37:g.39798949G>C	ENSP00000248668:p.Ser547Trp						p.S547W	NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		2	1640	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		547			Helical; (Potential).		Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.1640C>G	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245035	0.79912	.	.	ENSG00000128011	ENST00000248668	T	0.66099	-0.19	4.17	4.17	0.49024	.	0.000000	0.32608	N	0.005879	T	0.71567	0.3355	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.75048	-0.3455	10	0.87932	D	0	.	14.0383	0.64658	0.0:0.0:1.0:0.0	.	547	Q9P244	LRFN1_HUMAN	W	547	ENSP00000248668:S547W	ENSP00000248668:S547W	S	-	2	0	LRFN1	44490789	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.438000	0.97539	2.176000	0.68965	0.462000	0.41574	TCG		0.667	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1		NM_020862		11	34	0	0	0	0.008291	0	11	34		
LRFN1	57622	broad.mit.edu	37	19	39804928	39804928	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:39804928C>T	ENST00000248668.4	-	1	1048	c.1049G>A	c.(1048-1050)cGg>cAg	p.R350Q	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	350	Ig-like.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCCGTCCCCCCGGACCCGGGT	0.692																																						uc002okw.2		NaN																	0				ovary(2)	2						c.(1048-1050)CGG>CAG		leucine rich repeat and fibronectin type III							14.0	18.0	16.0					19																	39804928		2074	4185	6259	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39804928C>T	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1049G>A	19.37:g.39804928C>T	ENSP00000248668:p.Arg350Gln						p.R350Q	NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	1049	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		350			Ig-like.|Extracellular (Potential).		Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.1049G>A	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722478	0.68959	.	.	ENSG00000128011	ENST00000248668	T	0.66995	-0.24	4.53	4.53	0.55603	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41823	D	0.000815	T	0.57814	0.2079	N	0.16201	0.385	0.32635	N	0.521495	P	0.48503	0.911	P	0.53185	0.72	T	0.66480	-0.5913	10	0.51188	T	0.08	.	8.3951	0.32553	0.0:0.895:0.0:0.105	.	350	Q9P244	LRFN1_HUMAN	Q	350	ENSP00000248668:R350Q	ENSP00000248668:R350Q	R	-	2	0	LRFN1	44496768	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	3.914000	0.56401	2.352000	0.79861	0.655000	0.94253	CGG		0.692	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1		NM_020862		7	16	0	0	0	0.001984	0	7	16		
PSG1	5669	broad.mit.edu	37	19	43372352	43372352	+	Missense_Mutation	SNP	G	G	A	rs534643202		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:43372352G>A	ENST00000436291.2	-	5	1260	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C	PSG1_ENST00000312439.6_Missense_Mutation_p.R382C|PSG1_ENST00000403380.3_Missense_Mutation_p.R289C|PSG1_ENST00000244296.2_Missense_Mutation_p.R382C|PSG1_ENST00000595124.1_Missense_Mutation_p.R289C|PSG1_ENST00000595356.1_Missense_Mutation_p.R382C	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	382	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GTAATATGGCGGATAAAGAGC	0.463													.|||	1	0.000199681	0.0	0.0	5008	,	,		19158	0.001		0.0	False		,,,				2504	0.0					uc002ovb.2		NaN																	0				ovary(2)	2						c.(1144-1146)CGC>TGC		pregnancy specific beta-1-glycoprotein 1							188.0	195.0	193.0					19																	43372352		2201	4298	6499	SO:0001583	missense	5669				female pregnancy	extracellular region		g.chr19:43372352G>A		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.1144C>T	19.37:g.43372352G>A	ENSP00000413041:p.Arg382Cys					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_Intron|PSG1_uc002our.1_Missense_Mutation_p.R382C|PSG1_uc010eio.1_Missense_Mutation_p.R382C|PSG1_uc002oux.1_Missense_Mutation_p.R311C|PSG1_uc002ouy.1_Missense_Mutation_p.R289C|PSG1_uc002ouz.1_Missense_Mutation_p.R382C|PSG1_uc002ova.1_Missense_Mutation_p.R289C|PSG1_uc002ovc.2_Missense_Mutation_p.R289C|PSG1_uc002ovd.1_Missense_Mutation_p.R382C	p.R382C	NM_006905	NP_008836	P11464	PSG1_HUMAN			5	1282	-		Prostate(69;0.00682)	382			Ig-like C2-type 3.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.1144C>T	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	10.39	1.337983	0.24253	.	.	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	1.07	1.07	0.20283	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22003	0.0530	M	0.64997	1.995	0.09310	N	1	P;D;P;D;P;D;D	0.60160	0.719;0.972;0.872;0.981;0.753;0.966;0.987	B;P;P;P;B;P;P	0.55011	0.443;0.655;0.69;0.69;0.371;0.717;0.766	T	0.08576	-1.0715	9	0.48119	T	0.1	.	5.469	0.16660	0.0:0.0:1.0:0.0	.	382;289;382;289;382;289;254	P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;B4DTG5	.;.;PSG1_HUMAN;.;.;.;.	C	382;289;382;382	ENSP00000413041:R382C;ENSP00000385386:R289C;ENSP00000308970:R382C;ENSP00000244296:R382C	ENSP00000244296:R382C	R	-	1	0	PSG1	48064192	0.017000	0.18338	0.018000	0.16275	0.002000	0.02628	1.671000	0.37513	0.860000	0.35481	0.195000	0.17529	CGC		0.463	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1				87	198	0	0	0	0.00361	0	87	198		
ZNF226	7769	broad.mit.edu	37	19	44680638	44680638	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:44680638C>G	ENST00000590089.1	+	7	1590	c.1223C>G	c.(1222-1224)tCc>tGc	p.S408C	ZNF226_ENST00000454662.2_Missense_Mutation_p.S408C|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.S408C			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	408					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)						Prostate(69;0.0352)|all_neural(266;0.202)				CATCTTCAATCCCATCAAAGA	0.443																																					Pancreas(115;581 1665 13228 19278 50070)	uc002oyp.2		NaN																	0					0						c.(1222-1224)TCC>TGC		zinc finger protein 226 isoform a							64.0	68.0	67.0					19																	44680638		2198	4299	6497	SO:0001583	missense	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44680638C>G	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.1223C>G	19.37:g.44680638C>G	ENSP00000465121:p.Ser408Cys					ZNF226_uc002oyq.2_Missense_Mutation_p.S291C|ZNF226_uc002oyr.2_Missense_Mutation_p.S291C|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Missense_Mutation_p.S408C|ZNF226_uc002oyt.2_Missense_Mutation_p.S408C	p.S408C	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN			6	1367	+		Prostate(69;0.0352)|all_neural(266;0.202)	408			C2H2-type 6.		Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	c.1223C>G	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098221	0.37048	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.08102	3.13;3.13	3.92	2.79	0.32731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.564716	0.13501	N	0.383210	T	0.22437	0.0541	L	0.52905	1.665	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.01889	-1.1253	10	0.56958	D	0.05	.	12.2773	0.54744	0.1699:0.83:0.0:0.0	.	408	Q9NYT6	ZN226_HUMAN	C	408	ENSP00000336719:S408C;ENSP00000393265:S408C	ENSP00000336719:S408C	S	+	2	0	ZNF226	49372478	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-1.425000	0.02446	2.201000	0.70794	0.655000	0.94253	TCC		0.443	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1				24	33	0	0	0	0.00278	0	24	33		
APOC1	341	broad.mit.edu	37	19	45418151	45418151	+	Start_Codon_SNP	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:45418151G>A	ENST00000588750.1	+	3	328	c.3G>A	c.(1-3)atG>atA	p.M1I	APOC1_ENST00000586638.1_Start_Codon_SNP_p.M1I|APOC1_ENST00000252491.4_Start_Codon_SNP_p.M1I|APOC1_ENST00000588802.1_Start_Codon_SNP_p.M1I|APOC1_ENST00000589781.1_Start_Codon_SNP_p.M1I|APOC1_ENST00000592885.1_Start_Codon_SNP_p.M1I			P02654	APOC1_HUMAN	apolipoprotein C-I	1					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phosphatidylcholine catabolic process (GO:0010900)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|plasma lipoprotein particle remodeling (GO:0034369)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|regulation of cholesterol transport (GO:0032374)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)|very-low-density lipoprotein particle clearance (GO:0034447)	chylomicron (GO:0042627)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	fatty acid binding (GO:0005504)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipase inhibitor activity (GO:0004859)			cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		GCCTCGCCATGAGGCTCTTCC	0.607																																						uc002pac.1		NaN																	0					0						c.(1-3)ATG>ATA		apolipoprotein C-I precursor							54.0	43.0	47.0					19																	45418151		2203	4300	6503	SO:0001582	initiator_codon_variant	341				cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance	chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle	fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity	g.chr19:45418151G>A	X00570	CCDS12648.1	19q13.2	2013-01-24				ENSG00000130208		"""Apolipoproteins"""	607	protein-coding gene	gene with protein product		107710					Standard	NM_001645		Approved		uc002pae.1	P02654		ENST00000588750.1:c.3G>A	19.37:g.45418151G>A	ENSP00000465356:p.Met1Ile					APOC1_uc002pad.1_Missense_Mutation_p.M1I|APOC1_uc002pae.1_Missense_Mutation_p.M1I|APOC1_uc002paf.1_5'Flank	p.M1I	NM_001645	NP_001636	P02654	APOC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	3	255	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)	1					B2R526|Q6IB97	Missense_Mutation	SNP	ENST00000588750.1	37	c.3G>A	CCDS12648.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387251	0.42308	.	.	ENSG00000130208	ENST00000252491	T	0.51574	0.7	4.12	3.09	0.35607	.	0.000000	0.48286	D	0.000193	T	0.59101	0.2169	.	.	.	0.80722	D	1	D	0.61697	0.99	P	0.60068	0.868	T	0.61362	-0.7078	9	0.87932	D	0	-41.9164	7.7599	0.28946	0.1158:0.0:0.8842:0.0	.	1	P02654	APOC1_HUMAN	I	1	ENSP00000252491:M1I	ENSP00000252491:M1I	M	+	3	0	APOC1	50109991	0.958000	0.32768	0.997000	0.53966	0.255000	0.26057	3.042000	0.49815	1.094000	0.41399	0.561000	0.74099	ATG		0.607	APOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453245.1			Missense_Mutation	10	29	0	0	0	0.000978	0	10	29		
GLTSCR1	29998	broad.mit.edu	37	19	48204667	48204667	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:48204667C>T	ENST00000396720.3	+	15	3872	c.3678C>T	c.(3676-3678)ccC>ccT	p.P1226P	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1226										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCCACGGCCCCCTGTCGTCTT	0.692																																						uc002phh.3		NaN																	0				pancreas(3)	3						c.(3676-3678)CCC>CCT		glioma tumor suppressor candidate region gene 1							10.0	13.0	12.0					19																	48204667		1944	4103	6047	SO:0001819	synonymous_variant	29998						protein binding	g.chr19:48204667C>T	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.3678C>T	19.37:g.48204667C>T						GLTSCR1_uc002phi.3_Silent_p.P984P	p.P1226P	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	15	3872	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	1226					A8MW01	Silent	SNP	ENST00000396720.3	37	c.3678C>T	CCDS46134.1																																																																																				0.692	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1		NM_015711		6	11	0	0	0	0.001168	0	6	11		
LRRC4B	94030	broad.mit.edu	37	19	51021654	51021654	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:51021654G>A	ENST00000599957.1	-	3	1513	c.1316C>T	c.(1315-1317)aCg>aTg	p.T439M	LRRC4B_ENST00000389201.3_Missense_Mutation_p.T439M			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	439	Ig-like C2-type.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGCTGAGTTCGTCACCATGCA	0.706																																						uc002pss.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1315-1317)ACG>ATG		leucine rich repeat containing 4B precursor							56.0	64.0	61.0					19																	51021654		2182	4263	6445	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021654G>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1316C>T	19.37:g.51021654G>A	ENSP00000471502:p.Thr439Met						p.T439M	NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1453	-		all_neural(266;0.131)	439			Extracellular (Potential).|Ig-like C2-type.		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.1316C>T	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723374	0.68959	.	.	ENSG00000131409	ENST00000389201	T	0.69926	-0.44	3.45	3.45	0.39498	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000001	T	0.80019	0.4547	M	0.78223	2.4	0.51233	D	0.999919	D	0.89917	1.0	D	0.74674	0.984	T	0.83131	-0.0113	10	0.87932	D	0	.	12.7732	0.57434	0.0:0.0:1.0:0.0	.	439	Q9NT99	LRC4B_HUMAN	M	439	ENSP00000373853:T439M	ENSP00000373853:T439M	T	-	2	0	LRRC4B	55713466	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.548000	0.60718	1.934000	0.56057	0.462000	0.41574	ACG		0.706	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1		NM_001080457		29	48	0	0	0	0.002445	0	29	48		
KLK15	55554	broad.mit.edu	37	19	51329142	51329142	+	Silent	SNP	G	G	A	rs137922291		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:51329142G>A	ENST00000598239.1	-	5	711	c.681C>T	c.(679-681)gaC>gaT	p.D227D	KLK1_ENST00000448701.2_5'Flank|KLK15_ENST00000326856.4_Silent_p.D226D|KLK15_ENST00000301421.2_3'UTR|KLK15_ENST00000596931.1_3'UTR|KLK15_ENST00000416184.1_Silent_p.D142D|KLK1_ENST00000301420.2_5'Flank	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	227	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CACAAGGGACGTCACCCCAGG	0.557																																					Pancreas(140;10 2513 7143 9246)	uc002ptl.2		NaN																	0				lung(1)|breast(1)	2						c.(679-681)GAC>GAT		kallikrein-related peptidase 15 isoform 4		G	,,	0,4406		0,0,2203	110.0	91.0	97.0		681,,426	-6.9	0.0	19	dbSNP_134	97	1,8599		0,1,4299	no	coding-synonymous,utr-3,coding-synonymous	KLK15	NM_017509.2,NM_138563.1,NM_138564.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	227/257,,142/172	51329142	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51329142G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.681C>T	19.37:g.51329142G>A						KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Silent_p.D142D|KLK15_uc002ptn.2_3'UTR|KLK15_uc002pto.2_Silent_p.D226D|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_3'UTR|KLK15_uc010eod.2_RNA	p.D227D	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	5	712	-		all_neural(266;0.057)	227			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Silent	SNP	ENST00000598239.1	37	c.681C>T	CCDS12805.1																																																																																				0.557	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1		NM_017509		16	28	0	0	0	0.00499	0	16	28		
CNOT3	4849	broad.mit.edu	37	19	54647809	54647809	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:54647809G>T	ENST00000406403.1	+	5	1929	c.326G>T	c.(325-327)gGc>gTc	p.G109V	CNOT3_ENST00000221232.5_Missense_Mutation_p.G109V|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	109					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|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 stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAGGGCCTGGGCCTGGCCCAG	0.547																																						uc002qdj.1		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(325-327)GGC>GTC		CCR4-NOT transcription complex, subunit 3							77.0	74.0	75.0					19																	54647809		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54647809G>T	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.326G>T	19.37:g.54647809G>T	ENSP00000383954:p.Gly109Val					CNOT3_uc010yel.1_Missense_Mutation_p.G109V|CNOT3_uc002qdi.2_Missense_Mutation_p.G22V|CNOT3_uc002qdk.1_Missense_Mutation_p.G109V|CNOT3_uc010ere.1_RNA	p.G109V	NM_014516	NP_055331	O75175	CNOT3_HUMAN			6	637	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		109					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.326G>T	CCDS12880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.519399|4.519399	0.85495|0.85495	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000440571|ENST00000221232;ENST00000406403	.|T;T	.|0.47177	.|0.85;0.85	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Not CCR4-Not complex component, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65893|0.65893	0.2735|0.2735	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	T|T	0.67452|0.67452	-0.5667|-0.5667	5|10	.|0.72032	.|D	.|0.01	-33.9321|-33.9321	18.0727|18.0727	0.89415|0.89415	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|109;109;33	.|B7Z6J7;O75175;Q6ZMJ6	.|.;CNOT3_HUMAN;.	S|V	30|109	.|ENSP00000221232:G109V;ENSP00000383954:G109V	.|ENSP00000221232:G109V	A|G	+|+	1|2	0|0	CNOT3|CNOT3	59339621|59339621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.153000|9.153000	0.94687|0.94687	2.641000|2.641000	0.89580|0.89580	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.547	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3		NM_014516		22	55	1	0	2.37509e-13	0.010504	2.48656e-13	22	55		
TNNT1	7138	broad.mit.edu	37	19	55649415	55649415	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:55649415C>T	ENST00000588981.1	-	10	619	c.415G>A	c.(415-417)Gag>Aag	p.E139K	TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000588426.1_Missense_Mutation_p.E36K|TNNT1_ENST00000587465.2_Missense_Mutation_p.E69K|TNNT1_ENST00000587758.1_Missense_Mutation_p.E128K|TNNT1_ENST00000536926.1_Missense_Mutation_p.E128K|TNNT1_ENST00000356783.5_Missense_Mutation_p.E128K|TNNT1_ENST00000291901.8_Missense_Mutation_p.E139K|TNNT1_ENST00000585321.2_Missense_Mutation_p.E69K	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	139					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)		TTCTTGGCCTCTTCCTCTTCC	0.567																																						uc002qjb.3		NaN																	0				ovary(1)	1						c.(415-417)GAG>AAG		troponin T1, skeletal, slow isoform a							190.0	163.0	172.0					19																	55649415		2203	4300	6503	SO:0001583	missense	7138				muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	g.chr19:55649415C>T		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.415G>A	19.37:g.55649415C>T	ENSP00000467176:p.Glu139Lys					TNNT1_uc002qiz.3_Missense_Mutation_p.E69K|TNNT1_uc002qja.3_Missense_Mutation_p.E69K|TNNT1_uc002qjc.3_Missense_Mutation_p.E139K|TNNT1_uc002qje.3_Missense_Mutation_p.E128K|TNNT1_uc002qjd.3_Missense_Mutation_p.E128K|TNNT1_uc002qjf.2_Missense_Mutation_p.E135K	p.E139K	NM_003283	NP_003274	P13805	TNNT1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	10	504	-			139					O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	37	c.415G>A	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436609	0.83885	.	.	ENSG00000105048	ENST00000291901;ENST00000356783;ENST00000536926;ENST00000537693;ENST00000429737	D;D;D	0.92397	-3.03;-3.03;-3.03	4.37	4.37	0.52481	.	0.248103	0.38778	N	0.001565	D	0.93726	0.7995	M	0.89968	3.075	0.58432	D	0.999999	P;P;P;P;P	0.48294	0.652;0.822;0.908;0.574;0.822	B;B;B;B;B	0.44224	0.444;0.173;0.436;0.388;0.173	D	0.95052	0.8188	10	0.72032	D	0.01	-17.3011	14.7823	0.69776	0.0:1.0:0.0:0.0	.	139;128;139;139;128	Q56R94;P13805-2;P13805-3;P13805;F5H1H4	.;.;.;TNNT1_HUMAN;.	K	139;128;128;69;154	ENSP00000291901:E139K;ENSP00000349233:E128K;ENSP00000439640:E128K	ENSP00000291901:E139K	E	-	1	0	TNNT1	60341227	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.405000	0.66351	2.167000	0.68274	0.484000	0.47621	GAG		0.567	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2		NM_003283		43	79	0	0	0	0.00361	0	43	79		
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						uc002qqo.2		NaN																	10	Substitution - Missense(10)		urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)		0						c.(1210-1212)GAC>GAA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	p.D404E	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			3	1484	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1		XM_001725708		3	16	1	0	0.004672	0.004672	0.00468817	3	16		
DDX1	1653	broad.mit.edu	37	2	15753407	15753407	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:15753407G>C	ENST00000381341.2	+	15	1405	c.1016G>C	c.(1015-1017)gGa>gCa	p.G339A	DDX1_ENST00000233084.3_Splice_Site_p.G339A			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	339	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TTGGAAAATGGAGTAAGTTGT	0.323																																						uc002rce.2		NaN																	0				central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1015-1017)GGA>GCA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 1							59.0	65.0	63.0					2																	15753407		2203	4300	6503	SO:0001630	splice_region_variant	1653				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr2:15753407G>C	X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.1017+1G>C	2.37:g.15753407G>C						DDX1_uc010yjq.1_Missense_Mutation_p.G247A	p.G339A	NM_004939	NP_004930	Q92499	DDX1_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)	14	1304	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	339			Necessary for interaction with RELA.|Helicase ATP-binding.		B4DME8|B4DPN6	Missense_Mutation	SNP	ENST00000381341.2	37	c.1016G>C	CCDS1686.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054988	0.93793	.	.	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	T;T	0.07688	3.17;3.17	5.92	5.92	0.95590	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00158	-1.1976	10	0.87932	D	0	-16.2729	20.33	0.98713	0.0:0.0:1.0:0.0	.	339	Q92499	DDX1_HUMAN	A	339;339;323	ENSP00000370745:G339A;ENSP00000233084:G339A	ENSP00000233084:G339A	G	+	2	0	DDX1	15670858	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.571000	0.90752	2.810000	0.96702	0.585000	0.79938	GGA		0.323	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2		NM_004939	Missense_Mutation	8	28	0	0	0	0.004482	0	8	28		
ITSN2	50618	broad.mit.edu	37	2	24522785	24522785	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:24522785C>G	ENST00000355123.4	-	12	1780	c.1337G>C	c.(1336-1338)aGa>aCa	p.R446T	ITSN2_ENST00000361999.3_Missense_Mutation_p.R446T|ITSN2_ENST00000406921.3_Missense_Mutation_p.R446T	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	446					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACCTCTCGTCTTTCTATGTC	0.289																																						uc002rfe.2		NaN																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(1336-1338)AGA>ACA		intersectin 2 isoform 1							120.0	111.0	114.0					2																	24522785		2203	4299	6502	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24522785C>G	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1337G>C	2.37:g.24522785C>G	ENSP00000347244:p.Arg446Thr					ITSN2_uc002rff.2_Missense_Mutation_p.R446T|ITSN2_uc002rfg.2_Missense_Mutation_p.R446T|ITSN2_uc010eyd.2_Missense_Mutation_p.R471T	p.R446T	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			12	1595	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		446			Potential.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.1337G>C	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878268	0.72294	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;T	0.60797	0.16;0.2;0.16;0.62;1.6	5.76	5.76	0.90799	.	0.000000	0.40302	U	0.001134	T	0.76399	0.3982	M	0.68952	2.095	0.49483	D	0.999794	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.991	T	0.76547	-0.2919	10	0.72032	D	0.01	.	19.9501	0.97195	0.0:1.0:0.0:0.0	.	446;446;446;446	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	T	446;446;446;470;446;471	ENSP00000354561:R446T;ENSP00000347244:R446T;ENSP00000370250:R446T;ENSP00000384499:R446T;ENSP00000391224:R471T	ENSP00000347244:R446T	R	-	2	0	ITSN2	24376289	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.894000	0.99253	0.591000	0.81541	AGA		0.289	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2		NM_006277		14	60	0	0	0	0.003163	0	14	60		
ITSN2	50618	broad.mit.edu	37	2	24522905	24522905	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:24522905C>T	ENST00000355123.4	-	12	1660	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q	ITSN2_ENST00000361999.3_Missense_Mutation_p.R406Q|ITSN2_ENST00000406921.3_Missense_Mutation_p.R406Q	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	406					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCTGTTTTCGTTCCCACTC	0.453																																						uc002rfe.2		NaN																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(1216-1218)CGA>CAA		intersectin 2 isoform 1							276.0	252.0	260.0					2																	24522905		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24522905C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1217G>A	2.37:g.24522905C>T	ENSP00000347244:p.Arg406Gln					ITSN2_uc002rff.2_Missense_Mutation_p.R406Q|ITSN2_uc002rfg.2_Missense_Mutation_p.R406Q|ITSN2_uc010eyd.2_Missense_Mutation_p.R431Q	p.R406Q	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			12	1475	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		406			Potential.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.1217G>A	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046349	0.75846	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;T	0.80653	0.08;0.11;0.08;0.55;-1.4	5.76	5.76	0.90799	.	0.000000	0.31199	U	0.008066	D	0.89935	0.6859	M	0.78049	2.395	0.42354	D	0.992388	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;P	0.66847	0.928;0.947;0.928;0.849	D	0.90333	0.4353	10	0.87932	D	0	.	19.9501	0.97195	0.0:1.0:0.0:0.0	.	406;406;406;406	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	Q	406;406;406;430;406;431	ENSP00000354561:R406Q;ENSP00000347244:R406Q;ENSP00000370250:R406Q;ENSP00000384499:R406Q;ENSP00000391224:R431Q	ENSP00000347244:R406Q	R	-	2	0	ITSN2	24376409	0.806000	0.28996	0.676000	0.29932	0.863000	0.49368	4.680000	0.61656	2.894000	0.99253	0.591000	0.81541	CGA		0.453	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2		NM_006277		30	114	0	0	0	0.002445	0	30	114		
ITSN2	50618	broad.mit.edu	37	2	24522915	24522915	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:24522915C>T	ENST00000355123.4	-	12	1650	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	ITSN2_ENST00000361999.3_Missense_Mutation_p.E403K|ITSN2_ENST00000406921.3_Missense_Mutation_p.E403K	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	403					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTTCCCACTCTTCCTTTTCT	0.453																																						uc002rfe.2		NaN																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(1207-1209)GAG>AAG		intersectin 2 isoform 1							277.0	254.0	262.0					2																	24522915		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24522915C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1207G>A	2.37:g.24522915C>T	ENSP00000347244:p.Glu403Lys					ITSN2_uc002rff.2_Missense_Mutation_p.E403K|ITSN2_uc002rfg.2_Missense_Mutation_p.E403K|ITSN2_uc010eyd.2_Missense_Mutation_p.E428K	p.E403K	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			12	1465	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		403			Potential.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.1207G>A	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647268	0.87958	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;T	0.80824	-0.06;-0.06;-0.06;0.41;-1.42	5.76	5.76	0.90799	.	0.000000	0.37178	U	0.002204	D	0.89897	0.6848	M	0.82716	2.605	0.58432	D	0.999999	D;D;D;D	0.69078	0.997;0.997;0.997;0.996	P;P;P;P	0.60789	0.879;0.879;0.879;0.76	D	0.90475	0.4456	10	0.87932	D	0	.	19.9501	0.97195	0.0:1.0:0.0:0.0	.	403;403;403;403	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	K	403;403;403;427;403;428	ENSP00000354561:E403K;ENSP00000347244:E403K;ENSP00000370250:E403K;ENSP00000384499:E403K;ENSP00000391224:E428K	ENSP00000347244:E403K	E	-	1	0	ITSN2	24376419	1.000000	0.71417	0.997000	0.53966	0.925000	0.55904	5.779000	0.68948	2.894000	0.99253	0.591000	0.81541	GAG		0.453	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2		NM_006277		32	118	0	0	0	0.004878	0	32	118		
ITSN2	50618	broad.mit.edu	37	2	24523032	24523032	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:24523032C>G	ENST00000355123.4	-	12	1533	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q	ITSN2_ENST00000361999.3_Missense_Mutation_p.E364Q|ITSN2_ENST00000406921.3_Missense_Mutation_p.E364Q	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	364					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTTTGTCCTCAAAAGTAACT	0.448																																						uc002rfe.2		NaN																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(1090-1092)GAG>CAG		intersectin 2 isoform 1							135.0	126.0	129.0					2																	24523032		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24523032C>G	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1090G>C	2.37:g.24523032C>G	ENSP00000347244:p.Glu364Gln					ITSN2_uc002rff.2_Missense_Mutation_p.E364Q|ITSN2_uc002rfg.2_Missense_Mutation_p.E364Q|ITSN2_uc010eyd.2_Missense_Mutation_p.E389Q	p.E364Q	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			12	1348	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		364			Potential.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.1090G>C	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941323	0.92526	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;T	0.80909	-0.0;0.02;-0.0;0.48;-1.43	5.76	5.76	0.90799	.	0.000000	0.37483	U	0.002078	D	0.91071	0.7190	M	0.84082	2.675	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.991;0.996;0.998;0.998	D	0.91272	0.5045	10	0.87932	D	0	.	20.3398	0.98759	0.0:1.0:0.0:0.0	.	364;364;364;364	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	Q	364;364;364;388;364;389	ENSP00000354561:E364Q;ENSP00000347244:E364Q;ENSP00000370250:E364Q;ENSP00000384499:E364Q;ENSP00000391224:E389Q	ENSP00000347244:E364Q	E	-	1	0	ITSN2	24376536	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.487000	0.81328	2.894000	0.99253	0.591000	0.81541	GAG		0.448	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2		NM_006277		39	55	0	0	0	0.00874	0	39	55		
NCOA1	8648	broad.mit.edu	37	2	24930608	24930608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:24930608G>T	ENST00000406961.1	+	13	2921	c.2269G>T	c.(2269-2271)Gag>Tag	p.E757*	NCOA1_ENST00000395856.3_Nonsense_Mutation_p.E757*|NCOA1_ENST00000538539.1_Nonsense_Mutation_p.E757*|NCOA1_ENST00000288599.5_Nonsense_Mutation_p.E757*|NCOA1_ENST00000405141.1_Nonsense_Mutation_p.E757*|NCOA1_ENST00000348332.3_Nonsense_Mutation_p.E757*|NCOA1_ENST00000407230.1_Nonsense_Mutation_p.E606*			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	757					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGATAAAGATGAGAAAGATTT	0.378			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2		NaN		Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(2269-2271)GAG>TAG		nuclear receptor coactivator 1 isoform 1							69.0	66.0	67.0					2																	24930608		2203	4300	6503	SO:0001587	stop_gained	8648							g.chr2:24930608G>T	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2269G>T	2.37:g.24930608G>T	ENSP00000385216:p.Glu757*					NCOA1_uc010eye.2_Nonsense_Mutation_p.E757*|NCOA1_uc002rfi.2_Nonsense_Mutation_p.E606*|NCOA1_uc002rfj.2_Nonsense_Mutation_p.E757*|NCOA1_uc002rfl.2_Nonsense_Mutation_p.E757*	p.E757*	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			11	2527	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		757					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Nonsense_Mutation	SNP	ENST00000406961.1	37	c.2269G>T	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	G	43	10.174525	0.99352	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.1899	0.98228	0.0:0.0:1.0:0.0	.	.	.	.	X	757;757;606;757;757;757;757	.	ENSP00000288599:E757X	E	+	1	0	NCOA1	24784112	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.533000	0.90617	2.873000	0.98535	0.563000	0.77884	GAG		0.378	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3		NM_147223		12	25	1	0	6.42651e-13	0.000978	6.70392e-13	12	25		
GCKR	2646	broad.mit.edu	37	2	27746223	27746223	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:27746223G>C	ENST00000264717.2	+	19	1858	c.1795G>C	c.(1795-1797)Gag>Cag	p.E599Q	GCKR_ENST00000424318.2_Missense_Mutation_p.E409Q	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	599					carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TTCTGTCTGTGAGGCTGTCAG	0.597																																						uc002rky.2		NaN																	0				ovary(2)	2						c.(1795-1797)GAG>CAG		glucokinase regulatory protein							69.0	61.0	63.0					2																	27746223		2203	4300	6503	SO:0001583	missense	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27746223G>C	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1795G>C	2.37:g.27746223G>C	ENSP00000264717:p.Glu599Gln					GCKR_uc010ezd.2_Missense_Mutation_p.E597Q|GCKR_uc010ylu.1_Missense_Mutation_p.E409Q	p.E599Q	NM_001486	NP_001477	Q14397	GCKR_HUMAN			19	1861	+	Acute lymphoblastic leukemia(172;0.155)		599					A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	ENST00000264717.2	37	c.1795G>C	CCDS1757.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.405478	0.25378	.	.	ENSG00000084734	ENST00000264717;ENST00000424318	T;T	0.25250	2.12;1.81	3.94	3.05	0.35203	.	0.182883	0.33712	U	0.004633	T	0.21962	0.0529	N	0.20845	0.615	0.26956	N	0.965918	D;P;B	0.57899	0.981;0.454;0.27	P;B;B	0.53401	0.725;0.09;0.09	T	0.03852	-1.0998	10	0.33940	T	0.23	-7.1892	7.3746	0.26821	0.1218:0.0:0.8782:0.0	.	409;597;599	F5H1P6;A8K731;Q14397	.;.;GCKR_HUMAN	Q	599;409	ENSP00000264717:E599Q;ENSP00000409109:E409Q	ENSP00000264717:E599Q	E	+	1	0	GCKR	27599727	1.000000	0.71417	0.951000	0.38953	0.597000	0.36814	2.163000	0.42377	0.969000	0.38237	0.563000	0.77884	GAG		0.597	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1		NM_001486		10	37	0	0	0	0.006214	0	10	37		
GCKR	2646	broad.mit.edu	37	2	27746258	27746258	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:27746258G>C	ENST00000264717.2	+	19	1893	c.1830G>C	c.(1828-1830)caG>caC	p.Q610H	GCKR_ENST00000424318.2_Missense_Mutation_p.Q420H	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	610					carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GGCCAGGTCAGAAGCGCACTG	0.612																																						uc002rky.2		NaN																	0				ovary(2)	2						c.(1828-1830)CAG>CAC		glucokinase regulatory protein							72.0	66.0	68.0					2																	27746258		2203	4300	6503	SO:0001583	missense	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27746258G>C	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1830G>C	2.37:g.27746258G>C	ENSP00000264717:p.Gln610His					GCKR_uc010ezd.2_Missense_Mutation_p.Q608H|GCKR_uc010ylu.1_Missense_Mutation_p.Q420H	p.Q610H	NM_001486	NP_001477	Q14397	GCKR_HUMAN			19	1896	+	Acute lymphoblastic leukemia(172;0.155)		610					A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	ENST00000264717.2	37	c.1830G>C	CCDS1757.1	.	.	.	.	.	.	.	.	.	.	G	4.163	0.028662	0.08054	.	.	ENSG00000084734	ENST00000264717;ENST00000424318	T;T	0.23348	2.22;1.91	4.09	2.24	0.28232	.	1.106060	0.07188	U	0.855232	T	0.15046	0.0363	N	0.08118	0	0.09310	N	0.999999	P;B;B	0.35656	0.514;0.073;0.073	B;B;B	0.38056	0.264;0.034;0.034	T	0.28459	-1.0043	10	0.72032	D	0.01	-0.6899	5.5525	0.17099	0.1116:0.2033:0.6851:0.0	.	420;608;610	F5H1P6;A8K731;Q14397	.;.;GCKR_HUMAN	H	610;420	ENSP00000264717:Q610H;ENSP00000409109:Q420H	ENSP00000264717:Q610H	Q	+	3	2	GCKR	27599762	0.784000	0.28713	0.014000	0.15608	0.031000	0.12232	0.702000	0.25631	0.448000	0.26722	0.563000	0.77884	CAG		0.612	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1		NM_001486		13	54	0	0	0	0.001368	0	13	54		
SUPT7L	9913	broad.mit.edu	37	2	27884012	27884012	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:27884012C>T	ENST00000337768.5	-	3	827	c.258G>A	c.(256-258)caG>caA	p.Q86Q	SUPT7L_ENST00000464789.2_Silent_p.Q84Q|SLC4A1AP_ENST00000326019.6_5'Flank|SUPT7L_ENST00000405491.1_Silent_p.Q84Q|SUPT7L_ENST00000404798.2_Intron|SUPT7L_ENST00000406540.1_Silent_p.Q84Q	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	86					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					GCTGCTGATTCTGGGCCTGAG	0.517																																						uc002rlh.1		NaN																	0				skin(2)	2						c.(256-258)CAG>CAA		SPTF-associated factor 65 gamma							105.0	111.0	109.0					2																	27884012		2124	4227	6351	SO:0001819	synonymous_variant	9913				histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:27884012C>T	AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.258G>A	2.37:g.27884012C>T						SUPT7L_uc002rli.1_Silent_p.Q86Q|SUPT7L_uc010ymf.1_Intron|SUPT7L_uc002rlj.1_Silent_p.Q84Q|SUPT7L_uc010ezh.1_Silent_p.Q84Q|SLC4A1AP_uc002rlk.3_5'Flank	p.Q86Q	NM_014860	NP_055675	O94864	ST65G_HUMAN			3	601	-	Acute lymphoblastic leukemia(172;0.155)		86					B4E3W3|Q6IB21|Q9H2T6	Silent	SNP	ENST00000337768.5	37	c.258G>A	CCDS42667.1																																																																																				0.517	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324568.1		NM_014860		16	47	0	0	0	0.003163	0	16	47		
CAPN13	92291	broad.mit.edu	37	2	30965216	30965216	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:30965216G>A	ENST00000295055.8	-	14	1631	c.1455C>T	c.(1453-1455)agC>agT	p.S485S	CAPN13_ENST00000534090.2_Silent_p.S485S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	485					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGAAATGGCTGCTCAGGTGCC	0.532																																						uc002rnn.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1453-1455)AGC>AGT		calpain 13							48.0	49.0	49.0					2																	30965216		2006	4176	6182	SO:0001819	synonymous_variant	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30965216G>A		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1455C>T	2.37:g.30965216G>A						CAPN13_uc002rnm.2_RNA|CAPN13_uc002rno.2_Silent_p.S39S	p.S485S	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			13	1631	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		485					Q17RF0|Q580X1|Q8TE80	Silent	SNP	ENST00000295055.8	37	c.1455C>T	CCDS46252.1																																																																																				0.532	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2		NM_144575		5	8	0	0	0	0.000602	0	5	8		
VPS54	51542	broad.mit.edu	37	2	64141357	64141357	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:64141357C>G	ENST00000272322.4	-	17	2447	c.2293G>C	c.(2293-2295)Gtt>Ctt	p.V765L	VPS54_ENST00000409558.4_Missense_Mutation_p.V753L|VPS54_ENST00000354504.3_Missense_Mutation_p.V612L			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	765					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TCAGTAGTAACAGATGGGATG	0.348																																						uc002scq.2		NaN																	0					0						c.(2293-2295)GTT>CTT		vacuolar protein sorting 54 isoform 1							121.0	122.0	122.0					2																	64141357		2203	4300	6503	SO:0001583	missense	51542				protein transport|retrograde transport, endosome to Golgi			g.chr2:64141357C>G	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.2293G>C	2.37:g.64141357C>G	ENSP00000272322:p.Val765Leu					VPS54_uc002scp.2_Missense_Mutation_p.V753L|VPS54_uc002scn.2_5'UTR|VPS54_uc002sco.2_Missense_Mutation_p.V250L|VPS54_uc010fct.2_Missense_Mutation_p.V612L	p.V765L	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN			17	2456	-			765					Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	ENST00000272322.4	37	c.2293G>C	CCDS33208.1	.	.	.	.	.	.	.	.	.	.	C	3.557	-0.090366	0.07053	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T;T	0.23754	1.89;1.9;1.9	6.02	4.25	0.50352	.	0.154075	0.64402	D	0.000019	T	0.06962	0.0177	N	0.01128	-1	0.41644	D	0.989099	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.15052	0.003;0.012;0.007	T	0.24404	-1.0161	10	0.02654	T	1	.	8.9324	0.35680	0.0:0.7264:0.0:0.2736	.	612;765;753	Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4	.;VPS54_HUMAN;.	L	612;765;753;753;765	ENSP00000346499:V612L;ENSP00000272322:V765L;ENSP00000386980:V753L	ENSP00000272322:V765L	V	-	1	0	VPS54	63994861	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	2.763000	0.47605	0.887000	0.36136	0.650000	0.86243	GTT		0.348	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2		NM_016516		31	48	0	0	0	0.002836	0	31	48		
REG1B	5968	broad.mit.edu	37	2	79312402	79312402	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:79312402C>G	ENST00000305089.3	-	6	521	c.441G>C	c.(439-441)aaG>aaC	p.K147N		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	147	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CCTTCCATTTCTTGAATCCTA	0.403																																						uc002sny.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(439-441)AAG>AAC		regenerating islet-derived 1 beta precursor							79.0	76.0	77.0					2																	79312402		2203	4300	6503	SO:0001583	missense	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79312402C>G		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.441G>C	2.37:g.79312402C>G	ENSP00000303206:p.Lys147Asn						p.K147N	NM_006507	NP_006498	P48304	REG1B_HUMAN			6	553	-			147			C-type lectin.			Missense_Mutation	SNP	ENST00000305089.3	37	c.441G>C	CCDS1963.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	5.875|5.875	0.345565|0.345565	0.11126|0.11126	.|.	.|.	ENSG00000172023|ENSG00000172023	ENST00000305089|ENST00000454188	T|T	0.07800|0.06687	3.16|3.27	3.28|3.28	0.156|0.156	0.14910|0.14910	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);|.	0.484680|.	0.15277|.	N|.	0.270909|.	T|T	0.04724|0.04724	0.0128|0.0128	N|N	0.16098|0.16098	0.37|0.37	0.09310|0.09310	N|N	1|1	B|.	0.31949|.	0.348|.	B|.	0.37198|.	0.243|.	T|T	0.40346|0.40346	-0.9568|-0.9568	10|7	0.27082|0.46703	T|T	0.32|0.11	.|.	2.5794|2.5794	0.04815|0.04815	0.2298:0.4979:0.0:0.2723|0.2298:0.4979:0.0:0.2723	.|.	147|.	P48304|.	REG1B_HUMAN|.	N|T	147|127	ENSP00000303206:K147N|ENSP00000387410:R127T	ENSP00000303206:K147N|ENSP00000387410:R127T	K|R	-|-	3|2	2|0	REG1B|REG1B	79165910|79165910	0.000000|0.000000	0.05858|0.05858	0.010000|0.010000	0.14722|0.14722	0.291000|0.291000	0.27294|0.27294	0.102000|0.102000	0.15272|0.15272	-0.103000|-0.103000	0.12175|0.12175	0.484000|0.484000	0.47621|0.47621	AAG|AGA		0.403	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2		NM_006507		9	18	0	0	0	0.006214	0	9	18		
MRPS5	64969	broad.mit.edu	37	2	95766234	95766234	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:95766234T>A	ENST00000272418.2	-	10	1124	c.916A>T	c.(916-918)Aag>Tag	p.K306*		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	306					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GGTTGTTTCTTCATCTTGATA	0.323																																						uc002sub.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(916-918)AAG>TAG		mitochondrial ribosomal protein S5							164.0	171.0	169.0					2																	95766234		2203	4299	6502	SO:0001587	stop_gained	64969				translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:95766234T>A	AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.916A>T	2.37:g.95766234T>A	ENSP00000272418:p.Lys306*					MRPS5_uc002suc.2_RNA	p.K306*	NM_031902	NP_114108	P82675	RT05_HUMAN			10	1134	-			306					Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Nonsense_Mutation	SNP	ENST00000272418.2	37	c.916A>T	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	T	39	7.299904	0.98196	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.3224	14.2432	0.65971	0.0:0.0:0.0:1.0	.	.	.	.	X	306	.	ENSP00000272418:K306X	K	-	1	0	MRPS5	95129961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.234000	0.58658	2.251000	0.74343	0.482000	0.46254	AAG		0.323	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1		NM_031902		17	39	0	0	0	0.006122	0	17	39		
LCT	3938	broad.mit.edu	37	2	136562346	136562346	+	Silent	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:136562346G>T	ENST00000264162.2	-	10	4465	c.4455C>A	c.(4453-4455)atC>atA	p.I1485I		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1485	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CCTGGGGCTGGATGCTGGCGG	0.562																																						uc002tuu.1		NaN																	0				ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(4453-4455)ATC>ATA		lactase-phlorizin hydrolase preproprotein							49.0	53.0	52.0					2																	136562346		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136562346G>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.4455C>A	2.37:g.136562346G>T							p.I1485I	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	10	4466	-			1485			Extracellular (Potential).|4.|4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.4455C>A	CCDS2178.1																																																																																				0.562	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1		NM_002299		18	41	1	0	4.96729e-08	0.008871	5.09016e-08	18	41		
NEB	4703	broad.mit.edu	37	2	152553231	152553231	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:152553231G>C	ENST00000172853.10	-	17	1636	c.1489C>G	c.(1489-1491)Cca>Gca	p.P497A	NEB_ENST00000603639.1_Missense_Mutation_p.P497A|NEB_ENST00000397345.3_Missense_Mutation_p.P497A|NEB_ENST00000604864.1_Missense_Mutation_p.P497A|NEB_ENST00000427231.2_Missense_Mutation_p.P497A|NEB_ENST00000409198.1_Missense_Mutation_p.P497A			P20929	NEBU_HUMAN	nebulin	497					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCTTATCTGGATGGACTTTG	0.458																																						uc010fnx.2		NaN																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(1489-1491)CCA>GCA		nebulin isoform 3							202.0	200.0	201.0					2																	152553231		1929	4127	6056	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152553231G>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.1489C>G	2.37:g.152553231G>C	ENSP00000172853:p.Pro497Ala					NEB_uc010fny.1_Missense_Mutation_p.P51A	p.P497A	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	17	1680	-			497					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.1489C>G		.	.	.	.	.	.	.	.	.	.	G	18.08	3.544368	0.65198	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000536533	T;T;T;T	0.04970	3.52;3.54;3.54;3.52	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.22781	0.0550	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.993	T	0.01874	-1.1256	10	0.15952	T	0.53	.	18.128	0.89592	0.0:0.0:1.0:0.0	.	130;497	Q86TG3;P20929	.;NEBU_HUMAN	A	497;497;497;497;223	ENSP00000386259:P497A;ENSP00000380505:P497A;ENSP00000416578:P497A;ENSP00000172853:P497A	ENSP00000172853:P497A	P	-	1	0	NEB	152261477	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	8.205000	0.89743	2.811000	0.96726	0.557000	0.71058	CCA		0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543		10	26	0	0	0	0.006214	0	10	26		
KLHL41	10324	broad.mit.edu	37	2	170371102	170371102	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:170371102G>A	ENST00000284669.1	+	2	1206	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Missense_Mutation_p.E315K|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.E315K	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	377					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											CATAGCATCTGAATGGGTTGG	0.398																																						uc002ueu.1		NaN																	0					0						c.(1129-1131)GAA>AAA		kelch repeat and BTB (POZ) domain containing 10							87.0	85.0	85.0					2																	170371102		2203	4300	6503	SO:0001583	missense	10324				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		g.chr2:170371102G>A	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1129G>A	2.37:g.170371102G>A	ENSP00000284669:p.Glu377Lys					KBTBD10_uc010zdh.1_Missense_Mutation_p.E315K	p.E377K	NM_006063	NP_006054	O60662	KBTBA_HUMAN			2	1206	+			377			Kelch 1.		Q53R42	Missense_Mutation	SNP	ENST00000284669.1	37	c.1129G>A	CCDS2234.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068078	0.93950	.	.	ENSG00000163093;ENSG00000251569;ENSG00000239474	ENST00000554017;ENST00000513963;ENST00000284669	T;T;T	0.65916	-0.18;-0.18;-0.18	6.02	6.02	0.97574	Kelch-type beta propeller (1);	0.096661	0.64402	D	0.000001	T	0.69984	0.3172	L	0.43923	1.385	0.49798	D	0.999828	P;B	0.51351	0.944;0.311	P;B	0.54174	0.744;0.127	T	0.69026	-0.5254	10	0.56958	D	0.05	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	315;377	E9PBE3;O60662	.;KBTBA_HUMAN	K	315;315;377	ENSP00000452313:E315K;ENSP00000424363:E315K;ENSP00000284669:E377K	ENSP00000284669:E377K	E	+	1	0	BBS5;RP11-724O16.1;KBTBD10	170079348	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.596000	0.82721	2.857000	0.98124	0.650000	0.86243	GAA		0.398	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1		NM_006063		24	33	0	0	0	0.004656	0	24	33		
NFE2L2	4780	broad.mit.edu	37	2	178098799	178098799	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:178098799T>A	ENST00000397062.3	-	2	800	c.246A>T	c.(244-246)gaA>gaT	p.E82D	NFE2L2_ENST00000397063.4_Missense_Mutation_p.E66D|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E66D|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E66D|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E66D	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	82					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E82D(8)|p.G81_F83delGEF(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TTGGGAGAAATTCACCTGTCT	0.433			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3		NaN		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		9	Substitution - Missense(8)|Deletion - In frame(1)		endometrium(3)|liver(2)|upper_aerodigestive_tract(1)|cervix(1)|oesophagus(1)|kidney(1)	central_nervous_system(1)	1						c.(244-246)GAA>GAT		nuclear factor erythroid 2-like 2 isoform 1							138.0	137.0	137.0					2																	178098799		1903	4104	6007	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098799T>A		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.246A>T	2.37:g.178098799T>A	ENSP00000380252:p.Glu82Asp	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.E66D|NFE2L2_uc010zfa.1_Missense_Mutation_p.E66D|NFE2L2_uc002uli.3_Missense_Mutation_p.E66D|NFE2L2_uc010fra.2_Missense_Mutation_p.E66D|NFE2L2_uc010frb.2_Missense_Mutation_p.E66D	p.E82D	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	801	-			82					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.246A>T	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.816244	0.90790	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.67;1.67;1.53	5.78	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.87180	2.865	0.53688	D	0.999979	D;D;D;D	0.89917	0.999;0.997;1.0;0.999	D;D;D;D	0.83275	0.991;0.978;0.996;0.991	T	0.64976	-0.6280	10	0.72032	D	0.01	.	11.2269	0.48888	0.0:0.0712:0.0:0.9288	.	66;66;66;82	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	D	66;82;66;66;66;66	ENSP00000380253:E66D;ENSP00000380252:E82D;ENSP00000411575:E66D;ENSP00000400073:E66D;ENSP00000412191:E66D;ENSP00000410015:E66D	ENSP00000380252:E82D	E	-	3	2	NFE2L2	177807045	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.909000	0.39917	2.210000	0.71456	0.460000	0.39030	GAA		0.433	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4		NM_006164		20	33	0	0	0	0.010504	0	20	33		
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:178098810C>G	ENST00000397062.3	-	2	789	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63Q|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63Q|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3		NaN		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		20	Substitution - Missense(20)		lung(13)|oesophagus(4)|upper_aerodigestive_tract(1)|urinary_tract(1)|cervix(1)	central_nervous_system(1)	1						c.(235-237)GAG>CAG		nuclear factor erythroid 2-like 2 isoform 1							147.0	146.0	146.0					2																	178098810		1899	4107	6006	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098810C>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.235G>C	2.37:g.178098810C>G	ENSP00000380252:p.Glu79Gln	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.E63Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63Q|NFE2L2_uc002uli.3_Missense_Mutation_p.E63Q|NFE2L2_uc010fra.2_Missense_Mutation_p.E63Q|NFE2L2_uc010frb.2_Missense_Mutation_p.E63Q	p.E79Q	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	790	-			79					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.235G>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647218	0.67358	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.996;0.994;0.998;0.996	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	63;63;63;79	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	Q	63;79;63;63;63;63;63	ENSP00000380253:E63Q;ENSP00000380252:E79Q;ENSP00000411575:E63Q;ENSP00000391590:E63Q;ENSP00000400073:E63Q;ENSP00000412191:E63Q;ENSP00000410015:E63Q	ENSP00000380252:E79Q	E	-	1	0	NFE2L2	177807056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.737000	0.93849	0.563000	0.77884	GAG		0.443	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4		NM_006164		16	34	0	0	0	0.004007	0	16	34		
DUSP28	285193	broad.mit.edu	37	2	241500413	241500413	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:241500413G>C	ENST00000405954.1	+	1	695	c.312G>C	c.(310-312)aaG>aaC	p.K104N	ANKMY1_ENST00000401804.1_5'Flank|ANKMY1_ENST00000403283.1_5'UTR|DUSP28_ENST00000343217.2_Missense_Mutation_p.K104N|ANKMY1_ENST00000462004.1_5'Flank|ANKMY1_ENST00000405523.3_5'Flank|ANKMY1_ENST00000405002.1_5'UTR|ANKMY1_ENST00000361678.4_5'Flank|ANKMY1_ENST00000536462.1_Intron			Q4G0W2	DUS28_HUMAN	dual specificity phosphatase 28	104	Tyrosine-protein phosphatase.				JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			lung(2)|upper_aerodigestive_tract(1)	3		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)		TCTACTGCAAGAACGGCCGCA	0.741																																					Pancreas(150;1630 2604 23402 46829)	uc002vzg.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(310-312)AAG>AAC		dual specificity phosphatase 28							5.0	5.0	5.0					2																	241500413		1045	2471	3516	SO:0001583	missense	285193						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr2:241500413G>C	BC036198	CCDS33418.1	2q37.1	2011-06-09			ENSG00000188542	ENSG00000188542		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	33237	protein-coding gene	gene with protein product							Standard	XM_006712455		Approved	VHP, DUSP26	uc002vzg.3	Q4G0W2	OTTHUMG00000152310	ENST00000405954.1:c.312G>C	2.37:g.241500413G>C	ENSP00000385885:p.Lys104Asn					ANKMY1_uc002vzd.1_5'Flank|ANKMY1_uc010fze.1_5'Flank|ANKMY1_uc002vze.2_5'Flank|ANKMY1_uc002vzf.2_5'Flank|DUSP28_uc002vzh.2_Missense_Mutation_p.K104N	p.K104N	NM_001033575	NP_001028747	Q4G0W2	DUS28_HUMAN		Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)	1	943	+		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	104			Tyrosine-protein phosphatase.			Missense_Mutation	SNP	ENST00000405954.1	37	c.312G>C	CCDS33418.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053149	0.55218	.	.	ENSG00000188542	ENST00000343217;ENST00000405954	T;T	0.61158	0.13;0.13	3.67	2.77	0.32553	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.049408	0.85682	D	0.000000	T	0.61362	0.2341	L	0.33792	1.035	0.37377	D	0.911895	D	0.89917	1.0	D	0.78314	0.991	T	0.58098	-0.7696	10	0.18276	T	0.48	.	12.1593	0.54096	0.1009:0.0:0.8991:0.0	.	104	Q4G0W2	DUS28_HUMAN	N	104	ENSP00000344235:K104N;ENSP00000385885:K104N	ENSP00000344235:K104N	K	+	3	2	DUSP28	241149086	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	2.281000	0.43452	0.352000	0.24053	-1.641000	0.00772	AAG		0.741	DUSP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325814.1		NM_001033575		4	12	0	0	0	0.009096	0	4	12		
KCNS1	3787	broad.mit.edu	37	20	43723922	43723922	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr20:43723922G>A	ENST00000306117.1	-	5	1566	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	KCNS1_ENST00000537075.1_Silent_p.F390F	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	390					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				CCACACCAGAGAACACTGACA	0.567																																						uc002xnc.2		NaN																	0					0						c.(1168-1170)TTC>TTT		potassium voltage-gated channel							56.0	50.0	52.0					20																	43723922		2203	4300	6503	SO:0001819	synonymous_variant	3787					voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding	g.chr20:43723922G>A	AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.1170C>T	20.37:g.43723922G>A						KCNS1_uc002xnd.2_Silent_p.F390F	p.F390F	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN			5	1567	-		Myeloproliferative disorder(115;0.0122)	390			Helical; Name=Segment S5; (Potential).		A2RUL9|B7ZM31|O43652|Q6DJU6	Silent	SNP	ENST00000306117.1	37	c.1170C>T	CCDS13342.1																																																																																				0.567	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3		NM_002251		14	40	0	0	0	0.00245	0	14	40		
RTFDC1	51507	broad.mit.edu	37	20	55088466	55088466	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr20:55088466G>A	ENST00000023939.4	+	6	680	c.573G>A	c.(571-573)ctG>ctA	p.L191L	RTFDC1_ENST00000357348.5_Silent_p.L221L|RTFDC1_ENST00000395881.3_Silent_p.L191L|GCNT7_ENST00000243913.4_Intron	NM_001283035.1|NM_001283036.1|NM_016407.3	NP_001269964.1|NP_001269965.1|NP_057491.2	Q9BY42	RTF2_HUMAN	replication termination factor 2 domain containing 1	191																	AGAGAAGGCTGAGAGCGAAGC	0.562																																						uc002xxt.2		NaN																	0				ovary(1)	1						c.(571-573)CTG>CTA		hypothetical protein LOC51507							152.0	94.0	114.0					20																	55088466		2203	4300	6503	SO:0001819	synonymous_variant	51507							g.chr20:55088466G>A	AF161513	CCDS13453.1, CCDS63316.1, CCDS63317.1	20q13	2012-10-29	2012-10-29	2012-10-29	ENSG00000022277	ENSG00000022277			15890	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 43"""	C20orf43			Standard	NM_001283035		Approved	HSPC164, CDAO5	uc002xxt.2	Q9BY42	OTTHUMG00000032801	ENST00000023939.4:c.573G>A	20.37:g.55088466G>A						C20orf43_uc010zzf.1_Silent_p.L221L|C20orf43_uc002xxu.2_Silent_p.L191L|C20orf43_uc002xxv.2_Silent_p.L191L|GCNT7_uc010zzg.1_Intron	p.L191L	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	Colorectal(105;0.202)		6	680	+			191					E1P5Z9|Q9BYL7|Q9HCV9|Q9NX29|Q9NZZ8|Q9P002|Q9UHW3	Silent	SNP	ENST00000023939.4	37	c.573G>A	CCDS13453.1																																																																																				0.562	RTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079817.2		NM_016407		3	14	0	0	0	0.004672	0	3	14		
TFAP2C	7022	broad.mit.edu	37	20	55206428	55206428	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr20:55206428G>A	ENST00000201031.2	+	2	459	c.216G>A	c.(214-216)tcG>tcA	p.S72S	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	72	Gln/Pro-rich (transactivation domain).				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			ACTCCCAGTCGGCCGACCCCT	0.701																																						uc002xya.2		NaN																	0				central_nervous_system(1)	1						c.(214-216)TCG>TCA		transcription factor AP-2 gamma							27.0	27.0	27.0					20																	55206428		2203	4300	6503	SO:0001819	synonymous_variant	7022				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr20:55206428G>A		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.216G>A	20.37:g.55206428G>A						TFAP2C_uc010zzi.1_5'UTR	p.S72S	NM_003222	NP_003213	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		2	459	+			72			Gln/Pro-rich (transactivation domain).		B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Silent	SNP	ENST00000201031.2	37	c.216G>A	CCDS13454.1																																																																																				0.701	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2		NM_003222		15	34	0	0	0	0.003163	0	15	34		
NPEPL1	79716	broad.mit.edu	37	20	57268967	57268967	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr20:57268967C>G	ENST00000356091.6	+	2	613	c.325C>G	c.(325-327)Cgc>Ggc	p.R109G	NPEPL1_ENST00000525967.1_Missense_Mutation_p.R81G|NPEPL1_ENST00000525817.1_Missense_Mutation_p.R61G|STX16-NPEPL1_ENST00000530122.1_3'UTR	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	109						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CGGAGCGCATCGCTGCATTGT	0.701																																						uc010zzs.1		NaN																	0					0						c.(325-327)CGC>GGC		aminopeptidase-like 1							10.0	12.0	12.0					20																	57268967		2141	4221	6362	SO:0001583	missense	79716				proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity	g.chr20:57268967C>G	AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.325C>G	20.37:g.57268967C>G	ENSP00000348395:p.Arg109Gly					NPEPL1_uc010zzr.1_Missense_Mutation_p.R61G|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.R81G|NPEPL1_uc002xzp.2_Translation_Start_Site	p.R109G	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)		2	420	+	all_lung(29;0.0175)		109					A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	ENST00000356091.6	37	c.325C>G	CCDS46621.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735418	0.30774	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.32023	1.47;1.48;1.47	4.97	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.28928	0.0718	M	0.63428	1.95	0.80722	D	1	B;B;P	0.36483	0.001;0.001;0.555	B;B;B	0.34536	0.005;0.006;0.185	T	0.07065	-1.0792	10	0.30854	T	0.27	-29.5666	11.8517	0.52415	0.2455:0.7545:0.0:0.0	.	109;61;81	Q8NDH3;G5EA34;E9PN47	PEPL1_HUMAN;.;.	G	81;61;109	ENSP00000434810:R81G;ENSP00000437112:R61G;ENSP00000348395:R109G	ENSP00000348395:R109G	R	+	1	0	NPEPL1	56702374	1.000000	0.71417	0.919000	0.36401	0.368000	0.29767	3.922000	0.56462	2.304000	0.77564	0.505000	0.49811	CGC		0.701	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6		NM_024663		8	17	0	0	0	0.00308	0	8	17		
HRH3	11255	broad.mit.edu	37	20	60794805	60794805	+	Silent	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr20:60794805G>C	ENST00000340177.5	-	1	506	c.222C>G	c.(220-222)ctC>ctG	p.L74L	HRH3_ENST00000317393.6_Silent_p.L74L	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	74					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	TGGCGAGGTTGAGCAGGAAGA	0.682																																						uc002ycf.2		NaN																	0					0						c.(220-222)CTC>CTG		histamine receptor H3	Histamine Phosphate(DB00667)						58.0	59.0	59.0					20																	60794805		2201	4300	6501	SO:0001819	synonymous_variant	11255				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity	g.chr20:60794805G>C	AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"""GPCR / Class A : Histamine receptors"""	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.222C>G	20.37:g.60794805G>C						HRH3_uc002ycg.2_Silent_p.L74L|HRH3_uc002ych.2_Silent_p.L74L|HRH3_uc002yci.2_Silent_p.L74L	p.L74L	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		1	519	-	Breast(26;7.76e-09)		74			Helical; Name=2; (Potential).		Q4QRI7|Q9GZX2|Q9H4K8	Silent	SNP	ENST00000340177.5	37	c.222C>G	CCDS13493.1																																																																																				0.682	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1		NM_007232		18	46	0	0	0	0.001882	0	18	46		
PRDM15	63977	broad.mit.edu	37	21	43298877	43298877	+	Missense_Mutation	SNP	G	G	A	rs75817094		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr21:43298877G>A	ENST00000269844.3	-	3	450	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000538201.1_Intron|AP001619.2_ENST00000432411.1_RNA	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	114					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						GGCTGTACCCGAGGGCGGGGG	0.766																																						uc002yzq.1		NaN																	0					0						c.(340-342)CGG>TGG		PR domain containing 15 isoform 1							6.0	8.0	7.0					21																	43298877		1675	3724	5399	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43298877G>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.340C>T	21.37:g.43298877G>A	ENSP00000269844:p.Arg114Trp					PRDM15_uc002yzo.2_Intron|PRDM15_uc002yzp.2_Intron|PRDM15_uc002yzr.1_Intron	p.R114W	NM_022115	NP_071398	P57071	PRD15_HUMAN			3	451	-			114					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.340C>T	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678093	0.29783	.	.	ENSG00000141956	ENST00000269844	T	0.11277	2.79	1.67	-0.32	0.12721	.	.	.	.	.	T	0.04952	0.0133	N	0.08118	0	0.09310	N	0.999995	B	0.09022	0.002	B	0.01281	0.0	T	0.37776	-0.9691	9	0.87932	D	0	.	4.1151	0.10077	0.421:0.0:0.579:0.0	.	114	P57071	PRD15_HUMAN	W	114	ENSP00000269844:R114W	ENSP00000269844:R114W	R	-	1	2	PRDM15	42171946	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.126000	0.03254	-0.102000	0.12197	0.289000	0.19496	CGG		0.766	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_022115		12	6	0	0	0	0.001855	0	12	6		
SLC25A18	83733	broad.mit.edu	37	22	18070755	18070755	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr22:18070755G>A	ENST00000327451.6	+	9	1178	c.640G>A	c.(640-642)Gag>Aag	p.E214K	SLC25A18_ENST00000399813.1_Missense_Mutation_p.E214K|AC004019.13_ENST00000443935.1_RNA	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	214						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		GGGGTTCAACGAGCTCGCCGG	0.532																																					Colon(118;1560 1625 18964 29606 50093)	uc002zmp.1		NaN																	0					0						c.(640-642)GAG>AAG		solute carrier	L-Glutamic Acid(DB00142)						223.0	179.0	194.0					22																	18070755		2203	4300	6503	SO:0001583	missense	83733					integral to membrane|mitochondrial inner membrane	binding|symporter activity	g.chr22:18070755G>A	AY008285	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902		"""Solute carriers"""	10988	protein-coding gene	gene with protein product		609303	"""solute carrier family 25 (mitochondrial carrier), member 18"""			11381032, 11897791	Standard	NM_031481		Approved		uc002zmp.1	Q9H1K4	OTTHUMG00000150089	ENST00000327451.6:c.640G>A	22.37:g.18070755G>A	ENSP00000329033:p.Glu214Lys					SLC25A18_uc010gqx.2_Missense_Mutation_p.E214K|SLC25A18_uc002zmq.1_Missense_Mutation_p.E214K	p.E214K	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN		Lung(27;0.124)	9	1134	+			214						Missense_Mutation	SNP	ENST00000327451.6	37	c.640G>A	CCDS13744.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713009	0.30413	.	.	ENSG00000182902	ENST00000327451;ENST00000399813	T;T	0.77489	-1.1;-1.1	4.54	3.43	0.39272	Mitochondrial carrier domain (2);	0.788869	0.11830	N	0.525347	T	0.57460	0.2055	N	0.19112	0.55	0.09310	N	1	B	0.16396	0.017	B	0.17722	0.019	T	0.38866	-0.9641	10	0.16420	T	0.52	.	3.119	0.06385	0.0982:0.1759:0.5442:0.1817	.	214	Q9H1K4	GHC2_HUMAN	K	214	ENSP00000329033:E214K;ENSP00000382710:E214K	ENSP00000329033:E214K	E	+	1	0	SLC25A18	16450755	0.067000	0.21026	0.287000	0.24848	0.699000	0.40488	0.867000	0.27968	2.234000	0.73211	0.555000	0.69702	GAG		0.532	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316214.3		NM_031481		42	69	0	0	0	0.007835	0	42	69		
CHEK2	11200	broad.mit.edu	37	22	29091193	29091193	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr22:29091193G>C	ENST00000405598.1	-	13	1488	c.1297C>G	c.(1297-1299)Caa>Gaa	p.Q433E	CHEK2_ENST00000402731.1_Missense_Mutation_p.Q404E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.Q342E|CHEK2_ENST00000382578.1_Missense_Mutation_p.Q342E|CHEK2_ENST00000404276.1_Missense_Mutation_p.Q433E|CHEK2_ENST00000348295.3_Missense_Mutation_p.Q404E|CHEK2_ENST00000328354.6_Missense_Mutation_p.Q433E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382580.2_Missense_Mutation_p.Q476E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000544772.1_Missense_Mutation_p.Q212E			O96017	CHK2_HUMAN	checkpoint kinase 2	433	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AGTGACACTTGAGTCCTATGC	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1		NaN	yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			0				central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						c.(1297-1299)CAA>GAA	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a							67.0	61.0	63.0					22																	29091193		2203	4300	6503	SO:0001583	missense	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091193G>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1297C>G	22.37:g.29091193G>C	ENSP00000386087:p.Gln433Glu					CHEK2_uc003ads.1_Missense_Mutation_p.Q212E|CHEK2_uc010gvh.1_Missense_Mutation_p.Q342E|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.Q476E|CHEK2_uc003adv.1_Missense_Mutation_p.Q404E|CHEK2_uc003adw.1_Missense_Mutation_p.Q433E|CHEK2_uc003adx.1_Missense_Mutation_p.Q212E|CHEK2_uc003ady.1_Missense_Mutation_p.Q422E|CHEK2_uc003adz.1_Missense_Mutation_p.Q237E	p.Q433E	NM_007194	NP_009125	O96017	CHK2_HUMAN			12	1369	-			433			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.1297C>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	3.708	-0.060047	0.07317	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.81	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.280866	0.39759	N	0.001276	T	0.35595	0.0937	N	0.05574	-0.02	0.80722	D	1	B;B;B;B;B;B	0.12630	0.005;0.0;0.003;0.006;0.0;0.001	B;B;B;B;B;B	0.10450	0.004;0.001;0.003;0.005;0.004;0.005	T	0.26643	-1.0097	10	0.02654	T	1	-18.8448	10.7721	0.46330	0.0:0.2639:0.5998:0.1363	.	342;212;433;404;433;476	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	404;342;116;212;433;433;433;476;342;404	ENSP00000329012:Q404E;ENSP00000372021:Q342E;ENSP00000442458:Q212E;ENSP00000329178:Q433E;ENSP00000385747:Q433E;ENSP00000386087:Q433E;ENSP00000372023:Q476E;ENSP00000384919:Q342E;ENSP00000384835:Q404E	ENSP00000329178:Q433E	Q	-	1	0	CHEK2	27421193	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.253000	0.32886	1.417000	0.47077	0.650000	0.86243	CAA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1		NM_001005735		11	28	0	0	0	0.000978	0	11	28		
CHEK2	11200	broad.mit.edu	37	22	29091207	29091207	+	Missense_Mutation	SNP	G	G	A	rs137853011	byFrequency	TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr22:29091207G>A	ENST00000405598.1	-	13	1474	c.1283C>T	c.(1282-1284)tCt>tTt	p.S428F	CHEK2_ENST00000402731.1_Missense_Mutation_p.S399F|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.S337F|CHEK2_ENST00000382578.1_Missense_Mutation_p.S337F|CHEK2_ENST00000404276.1_Missense_Mutation_p.S428F|CHEK2_ENST00000348295.3_Missense_Mutation_p.S399F|CHEK2_ENST00000328354.6_Missense_Mutation_p.S428F|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382580.2_Missense_Mutation_p.S471F|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000544772.1_Missense_Mutation_p.S207F			O96017	CHK2_HUMAN	checkpoint kinase 2	428	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> F (may increase breast cancer risk; dbSNP:rs137853011). {ECO:0000269|PubMed:15649950}.		cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCTATGCTCAGAGAAAGGTGG	0.398			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1		NaN	yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			0				central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20	GRCh37	CM051021	CHEK2	M	rs137853011	c.(1282-1284)TCT>TTT	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a		G	PHE/SER,PHE/SER,PHE/SER	0,4406		0,0,2203	51.0	47.0	48.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1412,1283,1196	5.8	1.0	22	dbSNP_133	48	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	CHEK2	NM_001005735.1,NM_007194.3,NM_145862.2	155,155,155	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	471/587,428/544,399/515	29091207	2,13004	2203	4300	6503	SO:0001583	missense	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091207G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1283C>T	22.37:g.29091207G>A	ENSP00000386087:p.Ser428Phe					CHEK2_uc003ads.1_Missense_Mutation_p.S207F|CHEK2_uc010gvh.1_Missense_Mutation_p.S337F|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.S471F|CHEK2_uc003adv.1_Missense_Mutation_p.S399F|CHEK2_uc003adw.1_Missense_Mutation_p.S428F|CHEK2_uc003adx.1_Missense_Mutation_p.S207F|CHEK2_uc003ady.1_Intron|CHEK2_uc003adz.1_Missense_Mutation_p.S232F	p.S428F	NM_007194	NP_009125	O96017	CHK2_HUMAN			12	1355	-			428		S -> F (increases breast cancer risk approximately 2-fold among Ashkenazi Jewish women).	Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.1283C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937801	0.73557	0.0	2.33E-4	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.348813	0.33895	N	0.004449	T	0.71134	0.3304	N	0.21508	0.67	0.80722	D	1	D;D;D;P;D	0.89917	1.0;0.997;0.998;0.914;1.0	D;D;D;P;D	0.76071	0.985;0.987;0.937;0.536;0.976	T	0.72763	-0.4195	10	0.54805	T	0.06	-13.2166	14.5298	0.67917	0.0:0.0:0.8444:0.1556	.	337;207;399;428;471	O96017-4;Q9HBS5;O96017-12;O96017;O96017-9	.;.;.;CHK2_HUMAN;.	F	399;337;111;207;428;428;428;471;337;399	ENSP00000329012:S399F;ENSP00000372021:S337F;ENSP00000442458:S207F;ENSP00000329178:S428F;ENSP00000385747:S428F;ENSP00000386087:S428F;ENSP00000372023:S471F;ENSP00000384919:S337F;ENSP00000384835:S399F	ENSP00000329178:S428F	S	-	2	0	CHEK2	27421207	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.497000	0.53295	2.747000	0.94245	0.650000	0.86243	TCT		0.398	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1		NM_001005735		11	29	0	0	0	0.000978	0	11	29		
EP300	2033	broad.mit.edu	37	22	41556722	41556722	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr22:41556722C>G	ENST00000263253.7	+	20	4886	c.3667C>G	c.(3667-3669)Caa>Gaa	p.Q1223E		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1223					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)	p.Y1198_L1243del(1)		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						TTCCCAGCCTCAAACGTAAGT	0.413			"""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		1	Deletion - In frame(1)	p.Y1198_L1243del(1)	breast(1)	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.(3667-3669)CAA>GAA		E1A binding protein p300							108.0	89.0	95.0					22																	41556722		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.chr22:41556722C>G	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.3667C>G	22.37:g.41556722C>G	ENSP00000263253:p.Gln1223Glu						p.Q1223E	NM_001429	NP_001420	Q09472	EP300_HUMAN			20	4062	+			1223					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.3667C>G	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951912	0.73787	.	.	ENSG00000100393	ENST00000263253	D	0.84223	-1.82	5.51	5.51	0.81932	.	0.000000	0.47093	D	0.000242	D	0.91791	0.7403	M	0.73217	2.22	0.54753	D	0.999989	P	0.52842	0.956	D	0.65010	0.931	D	0.92163	0.5737	10	0.72032	D	0.01	-6.5138	19.4278	0.94751	0.0:1.0:0.0:0.0	.	1223	Q09472	EP300_HUMAN	E	1223	ENSP00000263253:Q1223E	ENSP00000263253:Q1223E	Q	+	1	0	EP300	39886668	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.595000	0.87683	0.557000	0.71058	CAA		0.413	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		26	41	0	0	0	0.005443	0	26	41		
BRD1	23774	broad.mit.edu	37	22	50216812	50216812	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr22:50216812C>T	ENST00000216267.8	-	1	1640	c.1154G>A	c.(1153-1155)tGt>tAt	p.C385Y	BRD1_ENST00000459821.1_5'UTR|BRD1_ENST00000542442.1_Missense_Mutation_p.C24Y|BRD1_ENST00000404760.1_Missense_Mutation_p.C385Y|BRD1_ENST00000457780.2_Missense_Mutation_p.C385Y|BRD1_ENST00000342989.5_De_novo_Start_OutOfFrame|BRD1_ENST00000404034.1_Missense_Mutation_p.C385Y	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	385					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGGACATCACAGTAAGCGGT	0.542																																						uc003biv.2		NaN																	0				pancreas(1)	1						c.(1153-1155)TGT>TAT		bromodomain containing protein 1							112.0	129.0	124.0					22																	50216812		2203	4300	6503	SO:0001583	missense	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50216812C>T	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1154G>A	22.37:g.50216812C>T	ENSP00000216267:p.Cys385Tyr					BRD1_uc011arf.1_Translation_Start_Site|BRD1_uc011arg.1_Missense_Mutation_p.C385Y|BRD1_uc011arh.1_Missense_Mutation_p.C385Y|BRD1_uc003biu.3_Missense_Mutation_p.C385Y	p.C385Y	NM_014577	NP_055392	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	1641	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	385					A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	c.1154G>A	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188952	0.78789	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442	T;T;T;T;T	0.81163	2.01;2.01;2.01;2.01;-1.46	5.47	5.47	0.80525	Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.94105	0.8110	H	0.98005	4.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.96064	0.9041	10	0.87932	D	0	.	19.3129	0.94198	0.0:1.0:0.0:0.0	.	385;385;385	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	Y	385;385;385;385;24	ENSP00000216267:C385Y;ENSP00000384076:C385Y;ENSP00000385858:C385Y;ENSP00000410042:C385Y;ENSP00000437514:C24Y	ENSP00000216267:C385Y	C	-	2	0	BRD1	48602816	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.329000	0.79170	2.568000	0.86640	0.655000	0.94253	TGT		0.542	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1		NM_014577		66	112	0	0	0	0.00361	0	66	112		
TTLL8	164714	broad.mit.edu	37	22	50470355	50470355	+	Silent	SNP	G	G	A	rs373978372		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr22:50470355G>A	ENST00000266182.6	-	11	1466	c.1467C>T	c.(1465-1467)caC>caT	p.H489H	TTLL8_ENST00000440475.1_Silent_p.H469H			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	505	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CCTTCATGGCGTGGGCGATGG	0.642																																						uc011ark.1		NaN																	0				ovary(2)	2						c.(1465-1467)CAC>CAT		tubulin tyrosine ligase-like family, member 8		G		2,4390		0,2,2194	63.0	68.0	66.0		1497	0.3	1.0	22		66	0,8562		0,0,4281	no	coding-synonymous	TTLL8	XM_003403494.1		0,2,6475	AA,AG,GG		0.0,0.0455,0.0154		499/841	50470355	2,12952	2196	4281	6477	SO:0001819	synonymous_variant	164714							g.chr22:50470355G>A			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.1467C>T	22.37:g.50470355G>A							p.H489H	NM_001080447	NP_001073916				READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	11	1467	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Silent	SNP	ENST00000266182.6	37	c.1467C>T																																																																																					0.642	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_001080447		25	36	0	0	0	0.00278	0	25	36		
PLXNB2	23654	broad.mit.edu	37	22	50717351	50717351	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr22:50717351C>T	ENST00000449103.1	-	28	4619	c.4479G>A	c.(4477-4479)aaG>aaA	p.K1493K	PLXNB2_ENST00000359337.4_Silent_p.K1493K			O15031	PLXB2_HUMAN	plexin B2	1493					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTCAATGATCTTCTCCTTGA	0.642																																						uc003bkv.3		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4477-4479)AAG>AAA		plexin B2 precursor							101.0	105.0	104.0					22																	50717351		2200	4297	6497	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50717351C>T		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4479G>A	22.37:g.50717351C>T						PLXNB2_uc003bkt.1_Silent_p.K285K|PLXNB2_uc003bku.1_Silent_p.K478K	p.K1493K	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	28	4585	-		all_cancers(38;5.78e-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)	1493			Cytoplasmic (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.4479G>A	CCDS43035.1																																																																																				0.642	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3		NM_012401		11	31	0	0	0	0.001368	0	11	31		
MLH1	4292	broad.mit.edu	37	3	37056007	37056007	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:37056007G>C	ENST00000231790.2	+	9	978	c.762G>C	c.(760-762)aaG>aaC	p.K254N	MLH1_ENST00000539477.1_Missense_Mutation_p.K13N|MLH1_ENST00000455445.2_Missense_Mutation_p.K13N|MLH1_ENST00000536378.1_Missense_Mutation_p.K13N|MLH1_ENST00000435176.1_Missense_Mutation_p.K156N|MLH1_ENST00000458205.2_Missense_Mutation_p.K13N	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	254			Missing (in HNPCC2).		ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						ACTCAGTGAAGAAGTGCATCT	0.383		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc003cgl.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	D|Mis|N|F|S	E.coli MutL homolog gene			"""E, O"""		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		1	Whole gene deletion(1)	p.0?(1)	ovary(1)	large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						c.(760-762)AAG>AAC	MMR	MutL protein homolog 1							68.0	63.0	65.0					3																	37056007		2203	4300	6503	SO:0001583	missense	4292	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37056007G>C	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.762G>C	3.37:g.37056007G>C	ENSP00000231790:p.Lys254Asn					MLH1_uc011aye.1_Missense_Mutation_p.K13N|MLH1_uc011ayb.1_Missense_Mutation_p.K13N|MLH1_uc010hge.2_Missense_Mutation_p.K254N|MLH1_uc003cgn.3_Missense_Mutation_p.K13N|MLH1_uc011ayc.1_Missense_Mutation_p.K156N|MLH1_uc011ayd.1_Missense_Mutation_p.K13N|MLH1_uc003cgo.2_Missense_Mutation_p.K13N|MLH1_uc010hgg.1_5'UTR|MLH1_uc010hgh.1_Intron|MLH1_uc010hgi.1_5'UTR|MLH1_uc010hgj.1_Intron|MLH1_uc010hgk.2_5'UTR|MLH1_uc010hgl.1_5'UTR	p.K254N	NM_000249	NP_000240	P40692	MLH1_HUMAN			9	822	+			254		Missing (in HNPCC2).			B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.762G>C	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.847934|4.847934	0.91277|0.91277	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937;ENST00000383761;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000441265;ENST00000536378|ENST00000456676	D;D;D;D;D;D;D|.	0.94793|.	-3.52;-1.89;-1.89;-1.89;-3.52;-3.52;-1.89|.	5.69|5.69	5.69|5.69	0.88448|0.88448	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);|.	0.142187|.	0.64402|.	D|.	0.000006|.	T|T	0.74786|0.74786	0.3762|0.3762	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.83275|.	0.994;0.994;0.996|.	T|T	0.75263|0.75263	-0.3379|-0.3379	10|5	0.87932|.	D|.	0|.	-28.2496|-28.2496	13.0728|13.0728	0.59072|0.59072	0.0731:0.0:0.9269:0.0|0.0731:0.0:0.9269:0.0	.|.	156;254;254|.	E9PCU2;Q53GX1;P40692|.	.;.;MLH1_HUMAN|.	N|T	254;220;220;118;13;13;13;156;13;13|246	ENSP00000231790:K254N;ENSP00000402667:K13N;ENSP00000443665:K13N;ENSP00000398272:K13N;ENSP00000402564:K156N;ENSP00000398392:K13N;ENSP00000444286:K13N|.	ENSP00000231790:K254N|.	K|R	+|+	3|2	2|0	MLH1|MLH1	37031011|37031011	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	6.325000|6.325000	0.72901|0.72901	2.699000|2.699000	0.92147|0.92147	0.591000|0.591000	0.81541|0.81541	AAG|AGA		0.383	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2		NM_000249		17	21	0	0	0	0.006122	0	17	21		
COL7A1	1294	broad.mit.edu	37	3	48622525	48622525	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:48622525G>C	ENST00000328333.8	-	32	4026	c.3919C>G	c.(3919-3921)Cca>Gca	p.P1307A	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1307A	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1307	Interrupted collagenous region.|Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGCTGCCTGGACGCCCATCT	0.682																																						uc003ctz.2		NaN																	0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(3919-3921)CCA>GCA		alpha 1 type VII collagen precursor							21.0	25.0	24.0					3																	48622525		2199	4298	6497	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48622525G>C	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3919C>G	3.37:g.48622525G>C	ENSP00000332371:p.Pro1307Ala						p.P1307A	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	32	3920	-			1307			Triple-helical region.|Interrupted collagenous region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.3919C>G	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.346016	0.41599	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.93247	-3.19;-3.19	5.03	5.03	0.67393	.	0.000000	0.46758	D	0.000276	D	0.95720	0.8608	L	0.58925	1.835	0.45567	D	0.998515	D	0.89917	1.0	D	0.91635	0.999	D	0.95928	0.8936	10	0.66056	D	0.02	.	15.8657	0.79063	0.0:0.0:1.0:0.0	.	1307	Q02388	CO7A1_HUMAN	A	1307	ENSP00000332371:P1307A;ENSP00000412569:P1307A	ENSP00000332371:P1307A	P	-	1	0	COL7A1	48597529	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	4.240000	0.58701	2.489000	0.83994	0.655000	0.94253	CCA		0.682	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1		NM_000094		16	41	0	0	0	0.006122	0	16	41		
COL7A1	1294	broad.mit.edu	37	3	48622544	48622544	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:48622544G>A	ENST00000328333.8	-	32	4007	c.3900C>T	c.(3898-3900)ttC>ttT	p.F1300F	COL7A1_ENST00000454817.1_Silent_p.F1300F	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1300	Interrupted collagenous region.|Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGCTCCAGGGAAGCCCTGAG	0.667																																						uc003ctz.2		NaN																	0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(3898-3900)TTC>TTT		alpha 1 type VII collagen precursor							18.0	21.0	20.0					3																	48622544		2195	4297	6492	SO:0001819	synonymous_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48622544G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3900C>T	3.37:g.48622544G>A							p.F1300F	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	32	3901	-			1300			Triple-helical region.|Interrupted collagenous region.		Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	c.3900C>T	CCDS2773.1																																																																																				0.667	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1		NM_000094		12	37	0	0	0	0.000978	0	12	37		
PPM1M	132160	broad.mit.edu	37	3	52282393	52282393	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:52282393C>G	ENST00000296487.4	+	6	759	c.355C>G	c.(355-357)Ctg>Gtg	p.L119V	PPM1M_ENST00000457351.2_Missense_Mutation_p.L280V|PPM1M_ENST00000323588.4_Missense_Mutation_p.L119V|PPM1M_ENST00000409502.3_Missense_Mutation_p.L68V			Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1M	119	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		GTTCACCCGACTGGAGTTCCC	0.592																																					NSCLC(151;810 2688 34365 49863)	uc003ddf.3		NaN																	0					0						c.(355-357)CTG>GTG		RecName: Full=Protein phosphatase 1M;          EC=3.1.3.16; AltName: Full=Protein phosphatase 2C isoform eta;          Short=PP2C-eta;          Short=PP2CE;							41.0	40.0	40.0					3																	52282393		2203	4300	6503	SO:0001583	missense	132160				protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding	g.chr3:52282393C>G	AK096681	CCDS46840.1	3p21.31	2012-04-17	2010-03-05		ENSG00000164088	ENSG00000164088		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	26506	protein-coding gene	gene with protein product	"""protein phosphatase 2C eta"""	608979	"""protein phosphatase 1M (PP2C domain containing)"""			12477932	Standard	NM_001122870		Approved	PP2Ceta, FLJ32332	uc011bed.2	Q96MI6	OTTHUMG00000153046	ENST00000296487.4:c.355C>G	3.37:g.52282393C>G	ENSP00000296487:p.Leu119Val					PPM1M_uc011bed.1_Missense_Mutation_p.L280V|PPM1M_uc010hmd.2_Missense_Mutation_p.L119V|PPM1M_uc003ddg.3_Missense_Mutation_p.L68V|PPM1M_uc003ddh.3_5'Flank	p.L119V			Q96MI6	PPM1M_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)	6	720	+			119			PP2C-like.		Q8N8J9|Q96DB8	Missense_Mutation	SNP	ENST00000296487.4	37	c.355C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.87|17.87	3.495582|3.495582	0.64186|0.64186	.|.	.|.	ENSG00000164088|ENSG00000164088	ENST00000457454|ENST00000457351;ENST00000296487;ENST00000409502;ENST00000323588	.|T;T;T;T	.|0.47177	.|1.73;1.46;0.85;1.42	4.56|4.56	3.65|3.65	0.41850|0.41850	.|Protein phosphatase 2C-like (2);	.|0.243970	.|0.28958	.|N	.|0.013592	T|T	0.49115|0.49115	0.1538|0.1538	M|M	0.67569|0.67569	2.06|2.06	0.37685|0.37685	D|D	0.923649|0.923649	.|D;P	.|0.53619	.|0.961;0.708	.|P;P	.|0.50082	.|0.63;0.612	T|T	0.57051|0.57051	-0.7877|-0.7877	5|10	.|0.72032	.|D	.|0.01	-1.18|-1.18	3.7328|3.7328	0.08499|0.08499	0.2393:0.613:0.0:0.1477|0.2393:0.613:0.0:0.1477	.|.	.|280;119	.|B7XGB9;Q96MI6	.|.;PPM1M_HUMAN	E|V	174|280;119;68;119	.|ENSP00000393747:L280V;ENSP00000296487:L119V;ENSP00000387046:L68V;ENSP00000319894:L119V	.|ENSP00000296487:L119V	D|L	+|+	3|1	2|2	PPM1M|PPM1M	52257433|52257433	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.978000|0.978000	0.69477|0.69477	1.500000|1.500000	0.35682|0.35682	1.064000|1.064000	0.40671|0.40671	0.561000|0.561000	0.74099|0.74099	GAC|CTG		0.592	PPM1M-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000329230.2		NM_144641		9	23	0	0	0	0.004482	0	9	23		
FAM208A	23272	broad.mit.edu	37	3	56680888	56680888	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:56680888T>C	ENST00000493960.2	-	14	1887	c.1877A>G	c.(1876-1878)aAt>aGt	p.N626S	FAM208A_ENST00000431842.2_Missense_Mutation_p.N230S|FAM208A_ENST00000355628.5_Missense_Mutation_p.N626S	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	626							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AAGTTTTCTATTTTCTTCAAA	0.299																																						uc003did.3		NaN																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(1876-1878)AAT>AGT		retinoblastoma-associated protein 140 isoform b							61.0	60.0	60.0					3																	56680888		2203	4300	6503	SO:0001583	missense	23272							g.chr3:56680888T>C	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.1877A>G	3.37:g.56680888T>C	ENSP00000417509:p.Asn626Ser					C3orf63_uc003dic.3_Missense_Mutation_p.N230S|C3orf63_uc003die.3_Missense_Mutation_p.N626S	p.N626S	NM_015224	NP_056039	Q9UK61	CC063_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)	14	1978	-			626					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.1877A>G	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.056234	0.55325	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.12147	2.71;2.89;2.89	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000006	T	0.24353	0.0590	L	0.32530	0.975	0.42326	D	0.992277	P;D;D	0.71674	0.903;0.991;0.998	P;P;D	0.63488	0.473;0.801;0.915	T	0.01228	-1.1412	10	0.40728	T	0.16	-15.0169	15.1032	0.72299	0.0:0.0:0.0:1.0	.	626;626;230	Q9UK61-3;Q9UK61-4;Q9UK61-2	.;.;.	S	230;626;626	ENSP00000399410:N230S;ENSP00000417509:N626S;ENSP00000347845:N626S	ENSP00000347845:N626S	N	-	2	0	C3orf63	56655928	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.599000	0.54045	2.207000	0.71202	0.533000	0.62120	AAT		0.299	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2		NM_015224		9	25	0	0	0	0.004482	0	9	25		
PDE12	201626	broad.mit.edu	37	3	57543222	57543222	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:57543222G>A	ENST00000311180.8	+	1	1219	c.1116G>A	c.(1114-1116)ggG>ggA	p.G372G	PDE12_ENST00000487257.1_Silent_p.G372G	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	372					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		GGCTCGAGGGGGTGTTTCGAA	0.547																																					Colon(125;308 1634 19198 50622 50717)	uc003diw.3		NaN																	0					0						c.(1114-1116)GGG>GGA		phosphodiesterase 12							45.0	46.0	46.0					3																	57543222		2203	4300	6503	SO:0001819	synonymous_variant	201626						hydrolase activity	g.chr3:57543222G>A	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1116G>A	3.37:g.57543222G>A						PDE12_uc003div.2_Silent_p.G372G	p.G372G	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	1	1242	+			372					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Silent	SNP	ENST00000311180.8	37	c.1116G>A	CCDS33772.1																																																																																				0.547	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2		NM_177966		11	42	0	0	0	0.008291	0	11	42		
DENND6A	201627	broad.mit.edu	37	3	57619051	57619051	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:57619051G>C	ENST00000311128.5	-	15	1364	c.1294C>G	c.(1294-1296)Caa>Gaa	p.Q432E	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	432					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										ATAACACTTTGAGCCTCAGAA	0.303																																						uc003dja.2		NaN																	0				pancreas(1)	1						c.(1294-1296)CAA>GAA		hypothetical protein LOC201627							76.0	80.0	79.0					3																	57619051		2203	4298	6501	SO:0001583	missense	201627							g.chr3:57619051G>C	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1294C>G	3.37:g.57619051G>C	ENSP00000311401:p.Gln432Glu						p.Q432E	NM_152678	NP_689891	Q8IWF6	F116A_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)	15	1365	-			432					Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	37	c.1294C>G	CCDS33773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.6|28.6	4.930767|4.930767	0.92389|0.92389	.|.	.|.	ENSG00000174839|ENSG00000174839	ENST00000311128|ENST00000471531	.|.	.|.	.|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.050743|.	0.85682|.	D|.	0.000000|.	D|.	0.83982|.	0.5372|.	M|M	0.86953|0.86953	2.85|2.85	0.80722|0.80722	D|D	1|1	P|.	0.49696|.	0.927|.	B|.	0.40982|.	0.345|.	D|.	0.85578|.	0.1238|.	9|.	0.35671|.	T|.	0.21|.	-12.6842|-12.6842	19.5103|19.5103	0.95139|0.95139	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	432|.	Q8IWF6|.	F116A_HUMAN|.	E|X	432|3	.|.	ENSP00000311401:Q432E|.	Q|S	-|-	1|2	0|0	FAM116A|FAM116A	57594091|57594091	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	9.313000|9.313000	0.96297|0.96297	2.668000|2.668000	0.90789|0.90789	0.557000|0.557000	0.71058|0.71058	CAA|TCA		0.303	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1		NM_152678		14	33	0	0	0	0.003163	0	14	33		
PSMD6	9861	broad.mit.edu	37	3	64009039	64009039	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:64009039G>C	ENST00000295901.4	-	1	197	c.57C>G	c.(55-57)atC>atG	p.I19M	PSMD6_ENST00000492933.1_Missense_Mutation_p.I19M|PSMD6_ENST00000394431.2_Intron|PSMD6_ENST00000482510.1_Intron	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		GCAGCTGCGCGATACGCAAGT	0.672																																						uc003dma.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(55-57)ATC>ATG		proteasome (prosome, macropain) 26S subunit,							26.0	27.0	27.0					3																	64009039		2203	4300	6503	SO:0001583	missense	9861				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding	g.chr3:64009039G>C	AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"""Proteasome (prosome, macropain) subunits"""	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.57C>G	3.37:g.64009039G>C	ENSP00000295901:p.Ile19Met					PSMD6_uc003dlz.1_Translation_Start_Site|PSMD6_uc003dmb.1_Missense_Mutation_p.I19M|PSMD6_uc003dmc.1_Intron|PSMD6_uc003dmd.1_Intron	p.I19M	NM_014814	NP_055629	Q15008	PSMD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)	1	82	-		Lung NSC(201;0.136)	19					A8K2E0|E9PHI9|Q6UV22	Missense_Mutation	SNP	ENST00000295901.4	37	c.57C>G	CCDS2901.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413835	0.83449	.	.	ENSG00000163636	ENST00000295901;ENST00000492933;ENST00000478185	.	.	.	5.19	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.67449	0.2894	M	0.62723	1.935	0.80722	D	1	P;P	0.50443	0.935;0.628	P;B	0.55260	0.772;0.368	T	0.71839	-0.4471	9	0.87932	D	0	.	13.8894	0.63729	0.0739:0.0:0.9261:0.0	.	19;19	C9IZE4;Q15008	.;PSMD6_HUMAN	M	19	.	ENSP00000295901:I19M	I	-	3	3	PSMD6	63984079	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.666000	0.54540	1.330000	0.45394	0.467000	0.42956	ATC		0.672	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352082.1		NM_014814		12	17	0	0	0	0.001368	0	12	17		
IQCB1	9657	broad.mit.edu	37	3	121491473	121491473	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:121491473C>G	ENST00000310864.6	-	14	1712	c.1498G>C	c.(1498-1500)Gaa>Caa	p.E500Q	IQCB1_ENST00000349820.6_Missense_Mutation_p.E367Q	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	500					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GCTCGCTCTTCTAGGGCCCTG	0.498																																						uc010hre.1		NaN																	0					0						c.(1498-1500)GAA>CAA		IQ motif containing B1 isoform a							187.0	166.0	173.0					3																	121491473		2203	4300	6503	SO:0001583	missense	9657				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	g.chr3:121491473C>G	D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.1498G>C	3.37:g.121491473C>G	ENSP00000311505:p.Glu500Gln					IQCB1_uc003eek.2_Missense_Mutation_p.E367Q|IQCB1_uc010hrf.1_RNA	p.E500Q	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0983)	14	1713	-			500					Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	ENST00000310864.6	37	c.1498G>C	CCDS33837.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672320	0.29693	.	.	ENSG00000173226	ENST00000310864;ENST00000349820	T;T	0.79033	-1.23;-1.23	4.98	3.19	0.36642	.	0.323662	0.33419	N	0.004921	T	0.79673	0.4486	L	0.51422	1.61	0.23653	N	0.997193	D;D	0.67145	0.981;0.996	D;D	0.67900	0.954;0.922	T	0.66830	-0.5824	10	0.21014	T	0.42	-8.7662	6.7636	0.23554	0.0:0.7274:0.1781:0.0945	.	500;367	Q15051;Q15051-2	IQCB1_HUMAN;.	Q	500;367	ENSP00000311505:E500Q;ENSP00000323756:E367Q	ENSP00000311505:E500Q	E	-	1	0	IQCB1	122974163	0.992000	0.36948	0.531000	0.27976	0.353000	0.29299	2.100000	0.41777	0.674000	0.31244	0.650000	0.86243	GAA		0.498	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250573.1		NM_014642		41	84	0	0	0	0.009718	0	41	84		
DIRC2	84925	broad.mit.edu	37	3	122598123	122598123	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:122598123C>T	ENST00000261038.5	+	9	1733	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	445					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		TGTCTTGGTTCAACTGGTGCC	0.463																																						uc003efw.3		NaN																	0					0						c.(1333-1335)TTC>TTT		disrupted in renal carcinoma 2							308.0	314.0	312.0					3																	122598123		2203	4300	6503	SO:0001819	synonymous_variant	84925				transport	integral to membrane		g.chr3:122598123C>T	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.1335C>T	3.37:g.122598123C>T						DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Silent_p.F283F|uc003efx.1_RNA	p.F445F	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	9	1474	+			445			Helical; (Potential).		A8K561|Q8NBX9	Silent	SNP	ENST00000261038.5	37	c.1335C>T	CCDS3018.1																																																																																				0.463	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2		NM_032839		103	189	0	0	0	0.00361	0	103	189		
IFT122	55764	broad.mit.edu	37	3	129185821	129185821	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:129185821C>G	ENST00000348417.2	+	8	729	c.652C>G	c.(652-654)Ctg>Gtg	p.L218V	IFT122_ENST00000440957.2_Intron|IFT122_ENST00000349441.2_Intron|IFT122_ENST00000507564.1_Intron|IFT122_ENST00000347300.2_Intron|IFT122_ENST00000296266.3_Missense_Mutation_p.L269V|IFT122_ENST00000431818.2_Missense_Mutation_p.L68V|IFT122_ENST00000504021.1_Intron	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	218					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCCTTCCACTCTGAAGTCAGC	0.498																																						uc003emm.2		NaN																	0				ovary(1)|skin(1)	2						c.(652-654)CTG>GTG		WD repeat domain 10 isoform 2							165.0	163.0	164.0					3																	129185821		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129185821C>G	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.652C>G	3.37:g.129185821C>G	ENSP00000324005:p.Leu218Val					IFT122_uc003eml.2_Missense_Mutation_p.L269V|IFT122_uc003emn.2_Intron|IFT122_uc003emo.2_Intron|IFT122_uc003emp.2_Missense_Mutation_p.L68V|IFT122_uc010htc.2_Intron|IFT122_uc011bky.1_Intron|IFT122_uc003emq.2_Intron|IFT122_uc003emr.2_Intron|IFT122_uc011bla.1_Intron|IFT122_uc011bkx.1_Intron|IFT122_uc011bkz.1_Intron	p.L218V	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN			8	858	+			218					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.652C>G	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901444	0.33535	.	.	ENSG00000163913	ENST00000296266;ENST00000431818;ENST00000348417	T;T;T	0.61859	0.07;0.26;0.54	4.74	3.79	0.43588	WD40 repeat-like-containing domain (1);	0.558476	0.15531	N	0.257509	T	0.33469	0.0864	N	0.08118	0	0.80722	D	1	B;B	0.21606	0.034;0.058	B;B	0.27076	0.021;0.076	T	0.07083	-1.0791	10	0.14252	T	0.57	-1.2708	7.2725	0.26264	0.0:0.8212:0.0:0.1788	.	218;269	Q9HBG6;G3XAB1	IF122_HUMAN;.	V	269;68;218	ENSP00000296266:L269V;ENSP00000410946:L68V;ENSP00000324005:L218V	ENSP00000296266:L269V	L	+	1	2	IFT122	130668511	0.998000	0.40836	1.000000	0.80357	0.899000	0.52679	0.759000	0.26461	1.086000	0.41228	0.462000	0.41574	CTG		0.498	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1		NM_018262		33	64	0	0	0	0.002836	0	33	64		
DNAJC13	23317	broad.mit.edu	37	3	132182552	132182552	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:132182552G>C	ENST00000260818.6	+	17	2031	c.1783G>C	c.(1783-1785)Gaa>Caa	p.E595Q	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	595					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AGGTGATAAAGAAATTGCTAC	0.383																																						uc003eor.2		NaN																	0				ovary(1)|breast(1)	2						c.(1783-1785)GAA>CAA		DnaJ (Hsp40) homolog, subfamily C, member 13							99.0	95.0	96.0					3																	132182552		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132182552G>C	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.1783G>C	3.37:g.132182552G>C	ENSP00000260818:p.Glu595Gln					DNAJC13_uc010htq.1_Missense_Mutation_p.E595Q	p.E595Q	NM_015268	NP_056083	O75165	DJC13_HUMAN			17	1848	+			595					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.1783G>C	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480843	0.63849	.	.	ENSG00000138246	ENST00000260818	T	0.35789	1.29	5.35	5.35	0.76521	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53045	0.1772	L	0.42487	1.325	0.80722	D	1	B;D	0.57899	0.006;0.981	B;D	0.67900	0.023;0.954	T	0.43572	-0.9383	10	0.42905	T	0.14	.	19.2714	0.94011	0.0:0.0:1.0:0.0	.	595;595	A7E2Y5;O75165	.;DJC13_HUMAN	Q	595	ENSP00000260818:E595Q	ENSP00000260818:E595Q	E	+	1	0	DNAJC13	133665242	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.802000	0.85969	2.792000	0.96026	0.557000	0.71058	GAA		0.383	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2		NM_015268		24	42	0	0	0	0.004656	0	24	42		
XRN1	54464	broad.mit.edu	37	3	142144273	142144273	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:142144273C>T	ENST00000264951.4	-	4	631	c.514G>A	c.(514-516)Gag>Aag	p.E172K	XRN1_ENST00000544157.1_Intron|XRN1_ENST00000392981.2_Missense_Mutation_p.E172K|XRN1_ENST00000463916.1_Missense_Mutation_p.E172K	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	172					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|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)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATAATAACCTCATGGCCTGAG	0.279																																						uc003eus.2		NaN																	0				ovary(3)	3						c.(514-516)GAG>AAG		5'-3' exoribonuclease 1 isoform a							50.0	50.0	50.0					3																	142144273		2203	4299	6502	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142144273C>T	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.514G>A	3.37:g.142144273C>T	ENSP00000264951:p.Glu172Lys					XRN1_uc003eut.2_Missense_Mutation_p.E172K|XRN1_uc003euu.2_Missense_Mutation_p.E172K|XRN1_uc003euv.1_Missense_Mutation_p.E33K|XRN1_uc003euw.2_Missense_Mutation_p.E172K|XRN1_uc011bnh.1_Intron	p.E172K	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN			4	581	-			172					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.514G>A	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.850784	0.91277	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916;ENST00000477237	T;T	0.31510	1.49;1.49	5.32	5.32	0.75619	Putative 5-3 exonuclease (1);	0.000000	0.85682	D	0.000000	T	0.51924	0.1703	L	0.54908	1.71	0.80722	D	1	P;P;D;D	0.58620	0.596;0.661;0.979;0.983	B;P;P;D	0.65773	0.4;0.708;0.844;0.938	T	0.49113	-0.8973	10	0.56958	D	0.05	-16.786	19.3569	0.94418	0.0:1.0:0.0:0.0	.	172;33;172;172	Q8IZH2-3;B3KW17;Q8IZH2-2;Q8IZH2	.;.;.;XRN1_HUMAN	K	172;172;172;33	ENSP00000264951:E172K;ENSP00000376707:E172K	ENSP00000264951:E172K	E	-	1	0	XRN1	143626963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.193000	0.77780	2.637000	0.89404	0.650000	0.86243	GAG		0.279	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2		NM_019001		17	6	0	0	0	0.00499	0	17	6		
KLHL24	54800	broad.mit.edu	37	3	183368537	183368537	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:183368537C>T	ENST00000454652.2	+	4	779	c.393C>T	c.(391-393)atC>atT	p.I131I	KLHL24_ENST00000242810.6_Silent_p.I131I|KLHL24_ENST00000476808.1_Silent_p.I131I	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	131	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AGGTGAAGATCACTACAGAGA	0.408																																						uc003flv.2		NaN																	0				ovary(1)	1						c.(391-393)ATC>ATT		DRE1 protein							201.0	184.0	190.0					3																	183368537		2203	4300	6503	SO:0001819	synonymous_variant	54800					axon|cytoplasm|perikaryon		g.chr3:183368537C>T		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.393C>T	3.37:g.183368537C>T						KLHL24_uc003flw.2_Silent_p.I131I|KLHL24_uc003flx.2_Silent_p.I131I	p.I131I	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		3	688	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		131			BTB.		A5PLN8|Q9H620|Q9NXT9	Silent	SNP	ENST00000454652.2	37	c.393C>T	CCDS3246.1																																																																																				0.408	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2		NM_017644		6	137	0	0	0	0.001984	0	6	137		
SMCO1	255798	broad.mit.edu	37	3	196236536	196236536	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr3:196236536C>G	ENST00000397537.2	-	2	211	c.55G>C	c.(55-57)Gac>Cac	p.D19H		NM_001077657.1	NP_001071125.1	Q147U7	SMCO1_HUMAN	single-pass membrane protein with coiled-coil domains 1	19						integral component of membrane (GO:0016021)											AGTTTGTGGTCTACTCTGTAG	0.373																																						uc003fws.2		NaN																	0				ovary(1)	1						c.(55-57)GAC>CAC		hypothetical protein LOC255798							210.0	190.0	196.0					3																	196236536		1858	4107	5965	SO:0001583	missense	255798					integral to membrane		g.chr3:196236536C>G	AK123917	CCDS43192.1	3q29	2013-03-08	2013-03-08	2013-03-08	ENSG00000214097	ENSG00000214097			27407	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 43"""	C3orf43			Standard	NM_001077657		Approved	FLJ41923, DKFZp313B0440		Q147U7	OTTHUMG00000155581	ENST00000397537.2:c.55G>C	3.37:g.196236536C>G	ENSP00000380671:p.Asp19His					C3orf43_uc003fwr.2_Missense_Mutation_p.D11H	p.D19H	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	Epithelial(36;2.13e-23)|all cancers(36;2e-21)|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;0.00298)	2	212	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		19			Potential.		B3KW20	Missense_Mutation	SNP	ENST00000397537.2	37	c.55G>C	CCDS43192.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019421	0.35606	.	.	ENSG00000214097	ENST00000397537	T	0.44881	0.91	5.63	3.83	0.44106	.	.	.	.	.	T	0.30386	0.0763	L	0.27053	0.805	0.51233	D	0.99991	B;B	0.16166	0.016;0.016	B;B	0.19666	0.026;0.026	T	0.08722	-1.0708	9	0.87932	D	0	-3.9856	9.4554	0.38751	0.0:0.781:0.1434:0.0755	.	19;11	Q147U7;E9PGG7	CC043_HUMAN;.	H	19	ENSP00000380671:D19H	ENSP00000380671:D19H	D	-	1	0	C3orf43	197720933	0.998000	0.40836	0.897000	0.35233	0.964000	0.63967	2.852000	0.48310	0.729000	0.32403	0.655000	0.94253	GAC		0.373	SMCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340776.1		NM_001006109		46	86	0	0	0	0.00361	0	46	86		
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNASeq			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr4:1803568C>G	ENST00000260795.2	+	6	848	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000340107.4_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). {ECO:0000269|PubMed:10360402, ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:8589699, ECO:0000269|PubMed:8845844}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	ACAGAGCGCTCCCCGCACCGG	0.736		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		1205	Substitution - Missense(1204)|Deletion - In frame(1)	p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1)	urinary_tract(1168)|skin(27)|cervix(5)|lung(4)|upper_aerodigestive_tract(1)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600	GRCh37	CM950470	FGFR3	M	rs121913483	c.(745-747)TCC>TGC		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						13.0	16.0	15.0					4																	1803568		2180	4267	6447	SO:0001583	missense	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1803568C>G	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.746C>G	4.37:g.1803568C>G	ENSP00000260795:p.Ser249Cys					FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	p.S249C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		7	1002	+		Breast(71;0.212)|all_epithelial(65;0.241)	249		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).	Extracellular (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.746C>G	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	18.75	3.690127	0.68271	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000507588	D;T;T;T;T;T;T	0.82081	-1.57;-1.35;-1.33;-1.33;-1.33;-1.33;-1.32	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	M	0.92412	3.305	0.30597	A	0.239052	D;D;D;D;D;D	0.89917	0.998;0.997;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.80764	0.906;0.978;0.983;0.994;0.968;0.993	D	0.94822	0.7988	9	0.72032	D	0.01	.	16.2883	0.82736	0.0:1.0:0.0:0.0	.	212;249;249;249;249;249	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	C	249;249;249;249;249;249;69	ENSP00000420533:S249C;ENSP00000339824:S249C;ENSP00000414914:S249C;ENSP00000412903:S249C;ENSP00000260795:S249C;ENSP00000231803:S249C;ENSP00000427289:S69C	ENSP00000260795:S249C	S	+	2	0	FGFR3	1773366	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.424000	0.80242	1.903000	0.55091	0.436000	0.28706	TCC		0.736	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		11	19	0	0	0	0.001368	0	11	19		
EVC	2121	broad.mit.edu	37	4	5754566	5754566	+	Missense_Mutation	SNP	G	G	A	rs145645536		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr4:5754566G>A	ENST00000264956.6	+	9	1286	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T	EVC_ENST00000382674.2_Missense_Mutation_p.A368T|EVC_ENST00000509451.1_Missense_Mutation_p.A368T	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	368					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)				TTTGCAGGACGCCCTGGAGAG	0.557																																						uc003gil.1		NaN																	0				ovary(1)|skin(1)	2						c.(1102-1104)GCC>ACC		Ellis van Creveld syndrome protein		G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	68.0	65.0	66.0		1102	-7.7	0.0	4	dbSNP_134	66	0,8600		0,0,4300	no	missense	EVC	NM_153717.2	58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	368/993	5754566	2,13004	2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5754566G>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.1102G>A	4.37:g.5754566G>A	ENSP00000264956:p.Ala368Thr					EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	p.A368T	NM_153717	NP_714928	P57679	EVC_HUMAN			9	1286	+		Myeloproliferative disorder(84;0.117)	368						Missense_Mutation	SNP	ENST00000264956.6	37	c.1102G>A	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	G	3.756	-0.050527	0.07407	4.54E-4	0.0	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.50001	0.76;0.76;0.81	5.56	-7.73	0.01245	.	0.585786	0.17328	N	0.178236	T	0.14270	0.0345	N	0.02802	-0.49	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.32561	-0.9902	10	0.06236	T	0.91	.	10.3558	0.43962	0.3063:0.1214:0.5723:0.0	.	368	P57679	EVC_HUMAN	T	368	ENSP00000264956:A368T;ENSP00000372120:A368T;ENSP00000426774:A368T	ENSP00000264956:A368T	A	+	1	0	EVC	5805467	0.000000	0.05858	0.005000	0.12908	0.029000	0.11900	-0.617000	0.05584	-1.500000	0.01819	-0.459000	0.05422	GCC		0.557	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1				39	64	0	0	0	0.006999	0	39	64		
ADAMTS3	9508	broad.mit.edu	37	4	73185578	73185578	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr4:73185578T>C	ENST00000286657.4	-	8	1241	c.1205A>G	c.(1204-1206)cAt>cGt	p.H402R		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	402	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GACTTACACATGGCCCGTTTC	0.448																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1		NaN																	0				ovary(1)|lung(1)	2						c.(1204-1206)CAT>CGT		ADAM metallopeptidase with thrombospondin type 1							105.0	92.0	97.0					4																	73185578		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73185578T>C	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1205A>G	4.37:g.73185578T>C	ENSP00000286657:p.His402Arg						p.H402R	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		8	1242	-			402			Peptidase M12B.	Zinc; catalytic (By similarity).	A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.1205A>G	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.227714	0.79576	.	.	ENSG00000156140	ENST00000286657	D	0.98684	-5.07	5.86	5.86	0.93980	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.99450	0.9805	H	0.96748	3.875	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	D	0.98292	1.0514	10	0.87932	D	0	.	16.2479	0.82454	0.0:0.0:0.0:1.0	.	402	O15072	ATS3_HUMAN	R	402	ENSP00000286657:H402R	ENSP00000286657:H402R	H	-	2	0	ADAMTS3	73404442	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.241000	0.73720	0.533000	0.62120	CAT		0.448	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2				18	26	0	0	0	0.006122	0	18	26		
AFF1	4299	broad.mit.edu	37	4	88053553	88053553	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr4:88053553A>G	ENST00000307808.6	+	18	3703	c.3283A>G	c.(3283-3285)Att>Gtt	p.I1095V	AFF1_ENST00000395146.4_Missense_Mutation_p.I1102V|AFF1_ENST00000544085.1_Missense_Mutation_p.I733V	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1095					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TTCTCCATGCATTGCAAGGTA	0.343																																						uc003hqj.3		NaN																	0				breast(1)	1						c.(3283-3285)ATT>GTT		myeloid/lymphoid or mixed-lineage leukemia							62.0	64.0	63.0					4																	88053553		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88053553A>G	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.3283A>G	4.37:g.88053553A>G	ENSP00000305689:p.Ile1095Val					AFF1_uc011ccz.1_Missense_Mutation_p.I1102V|AFF1_uc003hqk.3_Missense_Mutation_p.I1095V|AFF1_uc011cda.1_Missense_Mutation_p.I733V	p.I1095V	NM_005935	NP_005926	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	18	3690	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	1095					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.3283A>G	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	A	2.179	-0.388086	0.04932	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.62105	0.05;0.05;0.05	5.11	-5.29	0.02747	.	0.896444	0.09609	N	0.779217	T	0.29850	0.0746	N	0.04787	-0.16	0.09310	N	0.999996	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.41378	-0.9512	10	0.02654	T	1	-0.8728	9.604	0.39622	0.3786:0.1143:0.5071:0.0	.	1102;1095;1095	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	V	1102;1095;733	ENSP00000378578:I1102V;ENSP00000305689:I1095V;ENSP00000440843:I733V	ENSP00000305689:I1095V	I	+	1	0	AFF1	88272577	0.990000	0.36364	0.495000	0.27527	0.738000	0.42128	0.367000	0.20382	-0.872000	0.04037	-0.488000	0.04728	ATT		0.343	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3		NM_005935		17	25	0	0	0	0.006122	0	17	25		
DDIT4L	115265	broad.mit.edu	37	4	101109268	101109268	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr4:101109268C>T	ENST00000273990.2	-	3	362	c.148G>A	c.(148-150)Gag>Aag	p.E50K	RP11-15B17.1_ENST00000515026.1_RNA|RP11-588P8.1_ENST00000515782.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	50					negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		GTTGATTCCTCAAATATTACC	0.368																																						uc003hvq.2		NaN																	0				ovary(1)	1						c.(148-150)GAG>AAG		DNA-damage-inducible transcript 4-like							78.0	82.0	81.0					4																	101109268		2203	4300	6503	SO:0001583	missense	115265				negative regulation of signal transduction	cytoplasm		g.chr4:101109268C>T	BC013592	CCDS34036.1	4q23	2008-02-05				ENSG00000145358			30555	protein-coding gene	gene with protein product	"""regulated in development and DNA damage response 2"", "" similar to Smhs1 protein"""	607730				12477932	Standard	NM_145244		Approved	REDD2, Rtp801L	uc003hvq.3	Q96D03		ENST00000273990.2:c.148G>A	4.37:g.101109268C>T	ENSP00000354830:p.Glu50Lys						p.E50K	NM_145244	NP_660287	Q96D03	DDT4L_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)	3	351	-			50					B2R7C3	Missense_Mutation	SNP	ENST00000273990.2	37	c.148G>A	CCDS34036.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012934	0.93346	.	.	ENSG00000145358	ENST00000273990;ENST00000502763;ENST00000513992	T;T	0.53423	0.62;0.62	5.63	5.63	0.86233	.	0.142206	0.47455	D	0.000222	T	0.51601	0.1684	L	0.27053	0.805	0.49687	D	0.999811	D	0.61697	0.99	P	0.54759	0.76	T	0.54268	-0.8319	10	0.66056	D	0.02	-20.4741	18.4811	0.90812	0.0:1.0:0.0:0.0	.	50	Q96D03	DDT4L_HUMAN	K	50	ENSP00000354830:E50K;ENSP00000427301:E50K	ENSP00000354830:E50K	E	-	1	0	DDIT4L	101328291	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.519000	0.60517	2.652000	0.90054	0.655000	0.94253	GAG		0.368	DDIT4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363423.1		NM_145244		45	72	0	0	0	0.009718	0	45	72		
PCDH10	57575	broad.mit.edu	37	4	134072260	134072260	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr4:134072260C>G	ENST00000264360.5	+	1	1791	c.965C>G	c.(964-966)cCa>cGa	p.P322R	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	322	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GAAGAGAGCCCAGTGTACCAA	0.612																																						uc003iha.2		NaN																	0				ovary(2)	2						c.(964-966)CCA>CGA		protocadherin 10 isoform 1 precursor							85.0	77.0	80.0					4																	134072260		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072260C>G	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.965C>G	4.37:g.134072260C>G	ENSP00000264360:p.Pro322Arg					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.P322R	p.P322R	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1791	+			322			Cadherin 3.|Extracellular (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.965C>G	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	2.790	-0.251455	0.05867	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.01705	4.68	4.34	4.34	0.51931	Cadherin (4);Cadherin-like (1);	0.000000	0.44902	D	0.000416	T	0.01661	0.0053	N	0.20881	0.62	0.32496	N	0.53956	B;B	0.20887	0.049;0.0	B;B	0.24541	0.054;0.004	T	0.33777	-0.9855	10	0.14656	T	0.56	.	12.569	0.56326	0.0:0.7133:0.2867:0.0	.	322;322	Q9P2E7;Q96SF0	PCD10_HUMAN;.	R	322	ENSP00000264360:P322R	ENSP00000264360:P322R	P	+	2	0	PCDH10	134291710	0.992000	0.36948	0.999000	0.59377	0.974000	0.67602	2.390000	0.44416	2.230000	0.72887	0.407000	0.27541	CCA		0.612	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2		NM_032961		41	78	0	0	0	0.002852	0	41	78		
TLR2	7097	broad.mit.edu	37	4	154625251	154625251	+	Missense_Mutation	SNP	C	C	G	rs267600044		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr4:154625251C>G	ENST00000260010.6	+	1	2600	c.1192C>G	c.(1192-1194)Cat>Gat	p.H398D		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	398					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	AAGGCAAAATCATTTGGCATC	0.363																																						uc003inq.2		NaN																	0				ovary(1)|lung(1)|breast(1)	3						c.(1192-1194)CAT>GAT		toll-like receptor 2 precursor							42.0	45.0	44.0					4																	154625251		2203	4299	6502	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154625251C>G	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1192C>G	4.37:g.154625251C>G	ENSP00000260010:p.His398Asp					TLR2_uc003inr.2_Missense_Mutation_p.H398D|TLR2_uc003ins.2_Missense_Mutation_p.H398D	p.H398D	NM_003264	NP_003255	O60603	TLR2_HUMAN			3	1411	+	all_hematologic(180;0.093)	Renal(120;0.117)	398			LRR 9.|Extracellular (Potential).		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.1192C>G	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	C	5.359	0.251454	0.10130	.	.	ENSG00000137462	ENST00000260010	T	0.56444	0.46	6.06	5.14	0.70334	.	1.175280	0.05954	N	0.639415	T	0.47673	0.1458	L	0.42487	1.325	0.26875	N	0.967656	B	0.18013	0.025	B	0.26693	0.072	T	0.29181	-1.0020	10	0.34782	T	0.22	.	6.9753	0.24672	0.2185:0.6709:0.0:0.1105	.	398	O60603	TLR2_HUMAN	D	398	ENSP00000260010:H398D	ENSP00000260010:H398D	H	+	1	0	TLR2	154844701	0.001000	0.12720	0.979000	0.43373	0.191000	0.23601	0.107000	0.15375	2.882000	0.98803	0.655000	0.94253	CAT		0.363	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1				19	47	0	0	0	0.007413	0	19	47		
MARCH6	10299	broad.mit.edu	37	5	10402684	10402684	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr5:10402684C>G	ENST00000274140.5	+	14	1294	c.1162C>G	c.(1162-1164)Ctc>Gtc	p.L388V	MARCH6_ENST00000449913.2_Missense_Mutation_p.L340V|MARCH6_ENST00000510792.1_Missense_Mutation_p.L86V|MARCH6_ENST00000503788.1_Missense_Mutation_p.L283V	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	388					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AGTATTCCCTCTCATTTGTGG	0.358																																						uc003jet.1		NaN																	0				ovary(1)|breast(1)	2						c.(1162-1164)CTC>GTC		membrane-associated ring finger (C3HC4) 6							395.0	378.0	384.0					5																	10402684		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10402684C>G	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1162C>G	5.37:g.10402684C>G	ENSP00000274140:p.Leu388Val					MARCH6_uc011cmu.1_Missense_Mutation_p.L340V|MARCH6_uc003jeu.1_Missense_Mutation_p.L86V|MARCH6_uc011cmv.1_Missense_Mutation_p.L283V	p.L388V	NM_005885	NP_005876	O60337	MARH6_HUMAN			14	1345	+			388			Helical; (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.1162C>G	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518459	0.64634	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.54175	0.1842	L	0.56769	1.78	0.80722	D	1	P;P;P	0.49862	0.911;0.929;0.929	P;B;B	0.50617	0.646;0.386;0.296	T	0.50558	-0.8814	10	0.48119	T	0.1	-12.4073	20.1634	0.98142	0.0:1.0:0.0:0.0	.	283;340;388	B4DKJ2;B4DT33;O60337	.;.;MARH6_HUMAN	V	340;283;388;86	ENSP00000414643:L340V;ENSP00000425930:L283V;ENSP00000274140:L388V;ENSP00000424512:L86V	ENSP00000274140:L388V	L	+	1	0	MARCH6	10455684	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.767000	0.47637	2.773000	0.95371	0.655000	0.94253	CTC		0.358	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2		NM_005885		86	183	0	0	0	0.00361	0	86	183		
FAM151B	167555	broad.mit.edu	37	5	79797732	79797732	+	Silent	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr5:79797732G>C	ENST00000282226.4	+	2	302	c.147G>C	c.(145-147)ctG>ctC	p.L49L	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	49										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		ATGAGGCACTGAAAAGTAAGT	0.368																																						uc003kgv.1		NaN																	0					0						c.(145-147)CTG>CTC		hypothetical protein LOC167555							142.0	143.0	142.0					5																	79797732		2203	4300	6503	SO:0001819	synonymous_variant	167555							g.chr5:79797732G>C		CCDS4051.1	5q14.1	2007-12-18	2007-12-18		ENSG00000152380	ENSG00000152380			33716	protein-coding gene	gene with protein product							Standard	NM_205548		Approved	UNQ9217	uc003kgv.2	Q6UXP7	OTTHUMG00000131303	ENST00000282226.4:c.147G>C	5.37:g.79797732G>C						FAM151B_uc010jal.1_RNA	p.L49L	NM_205548	NP_991111	Q6UXP7	F151B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)	2	290	+		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	49					A2RRE4	Silent	SNP	ENST00000282226.4	37	c.147G>C	CCDS4051.1																																																																																				0.368	FAM151B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254072.1		NM_205548		39	33	0	0	0	0.007835	0	39	33		
EFNA5	1946	broad.mit.edu	37	5	106722987	106722987	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr5:106722987C>A	ENST00000333274.6	-	4	795	c.514G>T	c.(514-516)Gat>Tat	p.D172Y	EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Intron	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	172					axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		AAAACACGATCATGAACACCT	0.328																																						uc003kol.2		NaN																	0					0						c.(514-516)GAT>TAT		ephrin-A5 precursor							85.0	81.0	82.0					5																	106722987		2200	4300	6500	SO:0001583	missense	1946				cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding	g.chr5:106722987C>A	U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"""Ephrins"""	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.514G>T	5.37:g.106722987C>A	ENSP00000328777:p.Asp172Tyr						p.D172Y	NM_001962	NP_001953	P52803	EFNA5_HUMAN		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)	4	796	-		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)	172						Missense_Mutation	SNP	ENST00000333274.6	37	c.514G>T	CCDS4097.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152500	0.78001	.	.	ENSG00000184349	ENST00000333274	D	0.96554	-4.05	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.94703	0.8291	N	0.24115	0.695	0.80722	D	1	D	0.57899	0.981	P	0.48840	0.592	D	0.95079	0.8211	10	0.62326	D	0.03	-13.0389	20.0628	0.97684	0.0:1.0:0.0:0.0	.	172	P52803	EFNA5_HUMAN	Y	172	ENSP00000328777:D172Y	ENSP00000328777:D172Y	D	-	1	0	EFNA5	106750886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.745000	0.94114	0.655000	0.94253	GAT		0.328	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250652.1		NM_001962		8	7	1	0	0.00010058	0.001368	0.000101631	8	7		
MAN2A1	4124	broad.mit.edu	37	5	109051929	109051929	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr5:109051929C>G	ENST00000261483.4	+	3	1551	c.499C>G	c.(499-501)Caa>Gaa	p.Q167E		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	167					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TGAACCCCTTCAAGTCTTTGT	0.378																																						uc003kou.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(499-501)CAA>GAA		mannosidase, alpha, class 2A, member 1							124.0	124.0	124.0					5																	109051929		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109051929C>G		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.499C>G	5.37:g.109051929C>G	ENSP00000261483:p.Gln167Glu						p.Q167E	NM_002372	NP_002363	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	3	1462	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	167			Lumenal (Potential).		Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.499C>G	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145261	0.77888	.	.	ENSG00000112893	ENST00000261483	T	0.21031	2.03	6.06	6.06	0.98353	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.052764	0.85682	D	0.000000	T	0.33411	0.0862	L	0.61387	1.9	0.80722	D	1	B	0.27910	0.193	B	0.37091	0.241	T	0.02829	-1.1105	10	0.40728	T	0.16	-12.8361	20.6397	0.99537	0.0:1.0:0.0:0.0	.	167	Q16706	MA2A1_HUMAN	E	167	ENSP00000261483:Q167E	ENSP00000261483:Q167E	Q	+	1	0	MAN2A1	109079828	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.794000	0.85869	2.880000	0.98712	0.650000	0.86243	CAA		0.378	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1				24	26	0	0	0	0.00278	0	24	26		
LARS	51520	broad.mit.edu	37	5	145557190	145557190	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr5:145557190C>G	ENST00000394434.2	-	2	211	c.45G>C	c.(43-45)aaG>aaC	p.K15N	LARS_ENST00000511505.1_5'UTR|LARS_ENST00000274562.9_Missense_Mutation_p.K15N|LARS_ENST00000510191.1_Intron|LARS_ENST00000545646.1_Missense_Mutation_p.K15N	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	15					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)	p.K15K(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CTTTCTCAATCTTCTTCAAAA	0.363																																						uc003lnx.1		NaN																	1	Substitution - coding silent(1)		kidney(1)		0						c.(43-45)AAG>AAC		leucyl-tRNA synthetase	L-Leucine(DB00149)						134.0	127.0	129.0					5																	145557190		2203	4299	6502	SO:0001583	missense	51520				leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	g.chr5:145557190C>G	AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.45G>C	5.37:g.145557190C>G	ENSP00000377954:p.Lys15Asn					LARS_uc011dbq.1_Missense_Mutation_p.K15N|LARS_uc011dbr.1_Intron|LARS_uc011dbs.1_Missense_Mutation_p.K15N	p.K15N	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	283	-			15					A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	ENST00000394434.2	37	c.45G>C	CCDS34265.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715192	0.48622	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000274562;ENST00000360930	T;T;T	0.76839	-1.05;-1.05;-1.05	5.6	3.81	0.43845	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.097128	0.64402	D	0.000002	T	0.73900	0.3646	L	0.58428	1.81	0.45015	D	0.998039	B;B;B	0.22746	0.002;0.074;0.013	B;B;B	0.31547	0.007;0.132;0.011	T	0.68727	-0.5332	10	0.27082	T	0.32	.	11.5104	0.50490	0.0:0.8529:0.0:0.1471	.	15;15;15	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	N	15	ENSP00000377954:K15N;ENSP00000437791:K15N;ENSP00000274562:K15N	ENSP00000274562:K15N	K	-	3	2	LARS	145537383	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.878000	0.39608	1.352000	0.45808	-0.150000	0.13652	AAG		0.363	LARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000373367.1		NM_020117		20	16	0	0	0	0.010504	0	20	16		
ZNF454	285676	broad.mit.edu	37	5	178392337	178392337	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr5:178392337G>T	ENST00000320129.3	+	5	1235	c.932G>T	c.(931-933)tGc>tTc	p.C311F	ZNF454_ENST00000519564.1_Missense_Mutation_p.C311F	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	311					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(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GCCTTTGTGTGCAGGGCACAC	0.378																																						uc003mjo.1		NaN																	0				ovary(2)|lung(1)	3						c.(931-933)TGC>TTC		zinc finger protein 454							51.0	55.0	54.0					5																	178392337		2203	4300	6503	SO:0001583	missense	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178392337G>T	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.932G>T	5.37:g.178392337G>T	ENSP00000326249:p.Cys311Phe					ZNF454_uc010jkz.1_Missense_Mutation_p.C311F	p.C311F	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	1203	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	311			C2H2-type 5.		Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	c.932G>T	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.801323	0.00611	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.03496	3.91;3.91	4.35	2.52	0.30459	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.327062	0.22554	N	0.058541	T	0.02970	0.0088	N	0.11560	0.145	0.09310	N	1	D	0.54397	0.966	P	0.54965	0.765	T	0.41910	-0.9482	10	0.10636	T	0.68	-0.6847	3.2964	0.06968	0.1905:0.0:0.5837:0.2258	.	311	Q8N9F8	ZN454_HUMAN	F	311	ENSP00000326249:C311F;ENSP00000430354:C311F	ENSP00000326249:C311F	C	+	2	0	ZNF454	178324943	0.000000	0.05858	0.986000	0.45419	0.001000	0.01503	-0.589000	0.05767	1.160000	0.42584	-0.291000	0.09656	TGC		0.378	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2		XM_209718		21	22	1	0	7.33628e-21	0.002299	7.79312e-21	21	22		
HIST1H2AK	8330	broad.mit.edu	37	6	27805964	27805964	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:27805964G>A	ENST00000330180.2	-	1	153	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L	HIST1H2BN_ENST00000396980.3_5'Flank|HIST1H2BN_ENST00000606613.1_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	52						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						ACCGCCGCCAGGTACACCGGC	0.652																																						uc003njs.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(154-156)CTG>TTG		histone cluster 1, H2ak							46.0	50.0	49.0					6																	27805964		2202	4299	6501	SO:0001819	synonymous_variant	8330				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27805964G>A	Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"""Histones / Replication-dependent"""	4726	protein-coding gene	gene with protein product		602788	"""H2A histone family, member D"", ""histone 1, H2ak"""	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.154C>T	6.37:g.27805964G>A						HIST1H2BN_uc003njt.1_5'Flank|HIST1H2BN_uc003nju.1_5'Flank|HIST1H2BN_uc003njv.2_5'Flank	p.L52L	NM_003510	NP_003501	P0C0S8	H2A1_HUMAN			1	154	-			52					P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000330180.2	37	c.154C>T	CCDS4632.1																																																																																				0.652	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043814.1		NM_003510		4	63	0	0	0	0.009096	0	4	63		
C2	717	broad.mit.edu	37	6	31895930	31895930	+	Missense_Mutation	SNP	C	C	T	rs547881286		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:31895930C>T	ENST00000299367.5	+	2	521	c.245C>T	c.(244-246)gCg>gTg	p.A82V	C2_ENST00000418949.2_Missense_Mutation_p.A82V|C2_ENST00000469372.1_Intron|C2_ENST00000452323.2_Intron|CFB_ENST00000456570.1_Missense_Mutation_p.A82V|CFB_ENST00000556679.1_Missense_Mutation_p.A82V|C2_ENST00000442278.2_Intron|CFB_ENST00000477310.1_Missense_Mutation_p.A82V	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	82	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CTGTCTAAGGCGGTCTGCAAA	0.612																																						uc011dor.1		NaN																	0				skin(1)	1						c.(244-246)GCG>GTG		complement factor B preproprotein							12.0	13.0	13.0					6																	31895930		2195	4294	6489	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31895930C>T		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.245C>T	6.37:g.31895930C>T	ENSP00000299367:p.Ala82Val					C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_Intron|C2_uc003nye.3_Missense_Mutation_p.A82V|C2_uc003nyf.2_Missense_Mutation_p.A82V|C2_uc010jtk.2_Intron|C2_uc011doq.1_Missense_Mutation_p.R44W|C2_uc003nyg.2_Intron	p.A82V	NM_001710	NP_001701	P00751	CFAB_HUMAN			2	509	+			156			Sushi 2.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.245C>T	CCDS4728.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794687	0.70452	.	.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000413154;ENST00000299367;ENST00000447952;ENST00000418949;ENST00000556679;ENST00000456570;ENST00000477310	T;T;T;T;T;T;T	0.81078	1.0;0.81;1.0;0.81;-1.45;-1.45;0.81	5.22	4.34	0.51931	Complement control module (2);Sushi/SCR/CCP (1);	0.000000	0.39146	N	0.001448	T	0.52789	0.1756	.	.	.	0.29969	N	0.818708	B;P;P	0.35600	0.4;0.497;0.511	B;B;B	0.23574	0.022;0.047;0.007	T	0.55062	-0.8199	9	0.42905	T	0.14	-19.8222	11.4429	0.50107	0.0:0.9132:0.0:0.0868	.	82;82;82	B4E1Z4;P06681;Q8N6L6	.;CO2_HUMAN;.	V	82	ENSP00000403325:A82V;ENSP00000299367:A82V;ENSP00000391354:A82V;ENSP00000406190:A82V;ENSP00000451848:A82V;ENSP00000410815:A82V;ENSP00000418996:A82V	ENSP00000299367:A82V	A	+	2	0	CFB;C2;XXbac-BPG116M5.17	32003909	0.374000	0.25081	0.412000	0.26496	0.461000	0.32589	0.914000	0.28624	2.720000	0.93068	0.655000	0.94253	GCG		0.612	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9				3	13	0	0	0	0.004672	0	3	13		
UHRF1BP1	54887	broad.mit.edu	37	6	34824635	34824635	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:34824635C>T	ENST00000192788.5	+	11	1531	c.1360C>T	c.(1360-1362)Cag>Tag	p.Q454*	UHRF1BP1_ENST00000452449.2_Nonsense_Mutation_p.Q454*	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	454			Q -> R (in dbSNP:rs11755393).				histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCCTGCCTTTCAGCCTCCAGC	0.502																																						uc003oju.3		NaN																	0				ovary(3)	3						c.(1360-1362)CAG>TAG		ICBP90 binding protein 1							82.0	80.0	80.0					6																	34824635		1924	4131	6055	SO:0001587	stop_gained	54887							g.chr6:34824635C>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1360C>T	6.37:g.34824635C>T	ENSP00000192788:p.Gln454*					UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_5'Flank	p.Q454*	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			11	1594	+			454					Q9NXE0	Nonsense_Mutation	SNP	ENST00000192788.5	37	c.1360C>T	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814642	0.90790	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	.	.	.	5.93	-3.5	0.04710	.	0.890084	0.09897	N	0.741495	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-1.0536	7.65	0.28342	0.0:0.3781:0.342:0.2799	.	.	.	.	X	454	.	ENSP00000192788:Q454X	Q	+	1	0	UHRF1BP1	34932613	0.134000	0.22483	0.736000	0.30914	0.557000	0.35523	-0.192000	0.09587	-0.539000	0.06273	-1.083000	0.02208	CAG		0.502	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1		NM_017754		22	47	0	0	0	0.00278	0	22	47		
DAAM2	23500	broad.mit.edu	37	6	39828707	39828707	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:39828707G>A	ENST00000398904.2	+	3	354	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	DAAM2_ENST00000405961.3_Missense_Mutation_p.E58K|DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000274867.4_Missense_Mutation_p.E58K|DAAM2_ENST00000538976.1_Missense_Mutation_p.E58K			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	58	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TTTGCAGGATGAATTGGATCT	0.448																																						uc003oow.2		NaN																	0				ovary(2)|skin(1)	3						c.(172-174)GAA>AAA		dishevelled associated activator of							95.0	85.0	88.0					6																	39828707		1901	4114	6015	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39828707G>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.172G>A	6.37:g.39828707G>A	ENSP00000381876:p.Glu58Lys					DAAM2_uc010jxc.2_Missense_Mutation_p.E58K|DAAM2_uc003oox.2_Missense_Mutation_p.E58K|DAAM2_uc003oov.3_Missense_Mutation_p.E58K|DAAM2_uc003ooy.3_Missense_Mutation_p.E58K	p.E58K	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN			3	328	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		58			GBD/FH3.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.172G>A	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	35	5.491959	0.96339	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976;ENST00000405961	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	5.36	5.36	0.76844	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.056890	0.64402	D	0.000002	D	0.93808	0.8020	M	0.78223	2.4	0.80722	D	1	P;P;D	0.63046	0.827;0.856;0.992	B;P;D	0.76071	0.442;0.578;0.987	D	0.94338	0.7568	10	0.87932	D	0	.	17.8546	0.88759	0.0:0.0:1.0:0.0	.	58;58;58	G5EA45;Q86T65;F2Z2Q2	.;DAAM2_HUMAN;.	K	58	ENSP00000274867:E58K;ENSP00000381876:E58K;ENSP00000437808:E58K;ENSP00000384637:E58K	ENSP00000274867:E58K	E	+	1	0	DAAM2	39936685	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.405000	0.97313	2.524000	0.85096	0.491000	0.48974	GAA		0.448	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1				9	15	0	0	0	0.004482	0	9	15		
DST	667	broad.mit.edu	37	6	56492874	56492874	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:56492874C>T	ENST00000361203.3	-	29	3935	c.3928G>A	c.(3928-3930)Gaa>Aaa	p.E1310K	DST_ENST00000370765.6_Missense_Mutation_p.E984K|DST_ENST00000312431.6_Missense_Mutation_p.E1310K|DST_ENST00000244364.6_Missense_Mutation_p.E984K|DST_ENST00000421834.2_Missense_Mutation_p.E1310K|DST_ENST00000518935.1_Missense_Mutation_p.E984K|DST_ENST00000370754.5_Missense_Mutation_p.E1488K|DST_ENST00000370769.4_Missense_Mutation_p.E1310K|DST_ENST00000370788.2_Missense_Mutation_p.E1310K|DST_ENST00000446842.2_Missense_Mutation_p.E984K			Q03001	DYST_HUMAN	dystonin	1310					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGAGTAGTTTCAACCTGCTGG	0.388																																						uc003pdf.2		NaN																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(4462-4464)GAA>AAA		dystonin isoform 2							143.0	134.0	137.0					6																	56492874		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56492874C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3928G>A	6.37:g.56492874C>T	ENSP00000354508:p.Glu1310Lys					DST_uc003pcz.3_Missense_Mutation_p.E1310K|DST_uc011dxj.1_Missense_Mutation_p.E1339K|DST_uc011dxk.1_Missense_Mutation_p.E1350K|DST_uc003pcy.3_Missense_Mutation_p.E984K|DST_uc003pdb.2_Missense_Mutation_p.E984K|DST_uc003pdc.3_Missense_Mutation_p.E984K|DST_uc003pdd.3_Missense_Mutation_p.E984K	p.E1488K	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		32	4490	-	Lung NSC(77;0.103)		1310					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.4462G>A		.	.	.	.	.	.	.	.	.	.	C	25.8	4.672771	0.88445	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.45	5.45	0.79879	.	0.000000	0.53938	D	0.000056	T	0.40522	0.1120	N	0.20530	0.585	0.28672	N	0.905562	D;D;D;B;P;P;D;B	0.76494	0.999;0.988;0.997;0.402;0.699;0.499;0.999;0.167	D;P;D;B;B;P;D;B	0.80764	0.994;0.714;0.985;0.074;0.316;0.58;0.994;0.053	T	0.12656	-1.0539	9	0.07325	T	0.83	.	19.6695	0.95905	0.0:1.0:0.0:0.0	.	1310;1310;1488;984;984;984;1310;984	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	K	984;1488;1310;1310;984;1310;1310;1310;984;1350;984;984	ENSP00000244364:E984K;ENSP00000359790:E1488K;ENSP00000359805:E1310K;ENSP00000400883:E1310K;ENSP00000393645:E984K;ENSP00000307959:E1310K;ENSP00000359824:E1310K;ENSP00000354508:E1310K;ENSP00000404924:E984K;ENSP00000431030:E1350K;ENSP00000359801:E984K;ENSP00000431003:E984K	ENSP00000244364:E984K	E	-	1	0	DST	56600833	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.845000	0.69437	2.701000	0.92244	0.650000	0.86243	GAA		0.388	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723		21	48	0	0	0	0.00278	0	21	48		
KCNQ5	56479	broad.mit.edu	37	6	73751677	73751677	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:73751677G>A	ENST00000370398.1	+	3	617	c.508G>A	c.(508-510)Gtc>Atc	p.V170I	KCNQ5_ENST00000414165.2_Missense_Mutation_p.V170I|KCNQ5_ENST00000342056.2_Missense_Mutation_p.V170I|KCNQ5_ENST00000403813.2_Missense_Mutation_p.V170I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.V170I|KCNQ5_ENST00000370392.1_Missense_Mutation_p.V170I|KCNQ5_ENST00000355194.4_Missense_Mutation_p.V170I|KCNQ5_ENST00000355635.3_Missense_Mutation_p.V170I	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	170					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GATGATTGTCGTCTTTGGTTT	0.423																																					GBM(142;1375 1859 14391 23261 44706)	uc003pgk.2		NaN																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(508-510)GTC>ATC		potassium voltage-gated channel, KQT-like							391.0	355.0	367.0					6																	73751677		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73751677G>A	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.508G>A	6.37:g.73751677G>A	ENSP00000359425:p.Val170Ile					KCNQ5_uc003pgj.3_Missense_Mutation_p.V170I|KCNQ5_uc011dyh.1_Missense_Mutation_p.V170I|KCNQ5_uc011dyi.1_Missense_Mutation_p.V170I|KCNQ5_uc010kat.2_Missense_Mutation_p.V170I|KCNQ5_uc011dyj.1_Missense_Mutation_p.V170I|KCNQ5_uc011dyk.1_Intron	p.V170I	NM_019842	NP_062816	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	3	855	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	170			Helical; Name=Segment S2; (Potential).		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.508G>A	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485412	0.63962	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165;ENST00000443915;ENST00000441538	D;D;D;D;D;D;D;D;D;D	0.98060	-4.69;-4.69;-4.69;-4.69;-4.69;-4.69;-4.69;-4.69;-4.25;-4.25	5.99	5.99	0.97316	Ion transport (1);	0.066253	0.64402	D	0.000012	D	0.95626	0.8578	N	0.12182	0.205	0.50313	D	0.999863	B;D;D;P;D;P	0.65815	0.448;0.961;0.979;0.947;0.995;0.919	B;P;P;P;D;P	0.68039	0.127;0.766;0.781;0.799;0.955;0.631	D	0.92942	0.6373	10	0.08837	T	0.75	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	170;170;170;170;170;170	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	I	170;170;170;170;170;170;170;170;170;8;7	ENSP00000345055:V170I;ENSP00000347326:V170I;ENSP00000359425:V170I;ENSP00000359419:V170I;ENSP00000385501:V170I;ENSP00000347853:V170I;ENSP00000384453:V170I;ENSP00000409861:V170I;ENSP00000414829:V8I;ENSP00000391971:V7I	ENSP00000345055:V170I	V	+	1	0	KCNQ5	73808398	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.840000	0.97914	0.655000	0.94253	GTC		0.423	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3		NM_019842		71	141	0	0	0	0.00361	0	71	141		
MDN1	23195	broad.mit.edu	37	6	90402857	90402857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:90402857G>A	ENST00000369393.3	-	63	10007	c.9892C>T	c.(9892-9894)Caa>Taa	p.Q3298*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.Q3298*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3298					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)		TCCATCCTTTGGCGAAGCAGC	0.473																																						uc003pnn.1		NaN																	0				ovary(8)|skin(2)	10						c.(9892-9894)CAA>TAA		MDN1, midasin homolog							34.0	35.0	35.0					6																	90402857		2203	4300	6503	SO:0001587	stop_gained	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90402857G>A	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.9892C>T	6.37:g.90402857G>A	ENSP00000358400:p.Gln3298*						p.Q3298*	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	63	10008	-		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)	3298					O15019|Q5T794	Nonsense_Mutation	SNP	ENST00000369393.3	37	c.9892C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	49	15.924624	0.99849	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	.	.	.	5.05	5.05	0.67936	.	0.379781	0.27076	N	0.021045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	15.3911	0.74744	0.0:0.1493:0.8507:0.0	.	.	.	.	X	3298	.	ENSP00000358400:Q3298X	Q	-	1	0	MDN1	90459578	1.000000	0.71417	0.958000	0.39756	0.095000	0.18619	3.621000	0.54210	2.509000	0.84616	0.491000	0.48974	CAA		0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2				8	26	0	0	0	0.00308	0	8	26		
MMS22L	253714	broad.mit.edu	37	6	97626386	97626386	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:97626386G>A	ENST00000275053.4	-	18	2877	c.2612C>T	c.(2611-2613)tCa>tTa	p.S871L	MMS22L_ENST00000369251.2_Missense_Mutation_p.S831L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	871					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTGGGCCTTTGAGAAAATACT	0.299																																						uc003ppb.2		NaN																	0					0						c.(2611-2613)TCA>TTA		hypothetical protein LOC253714							59.0	64.0	62.0					6																	97626386		2202	4281	6483	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97626386G>A		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.2612C>T	6.37:g.97626386G>A	ENSP00000275053:p.Ser871Leu					C6orf167_uc011eaf.1_Missense_Mutation_p.S831L	p.S871L	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0457)	18	2878	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)	871					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.2612C>T	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157743	0.57368	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.30182	1.54;1.54	5.87	5.87	0.94306	.	0.251595	0.34879	N	0.003601	T	0.17365	0.0417	M	0.67953	2.075	0.39729	D	0.971582	B;B	0.18166	0.026;0.003	B;B	0.19946	0.027;0.006	T	0.06552	-1.0820	10	0.08837	T	0.75	-18.807	15.3131	0.74053	0.0684:0.0:0.9316:0.0	.	831;871	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	L	871;831	ENSP00000275053:S871L;ENSP00000358254:S831L	ENSP00000275053:S871L	S	-	2	0	MMS22L	97733107	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	2.437000	0.44828	2.780000	0.95670	0.655000	0.94253	TCA		0.299	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3		NM_198468		14	46	0	0	0	0.003163	0	14	46		
COQ3	51805	broad.mit.edu	37	6	99823896	99823896	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:99823896C>G	ENST00000254759.3	-	5	673	c.649G>C	c.(649-651)Gat>Cat	p.D217H	COQ3_ENST00000369240.1_Intron|COQ3_ENST00000479163.1_5'Flank|COQ3_ENST00000369242.1_Intron	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	217					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)	p.D217H(1)		cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		ACAACAGCATCAAATGTTTCT	0.388																																						uc003ppk.2		NaN																	1	Substitution - Missense(1)	p.D217H(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)	1						c.(649-651)GAT>CAT		hexaprenyldihydroxybenzoate methyltransferase							202.0	193.0	196.0					6																	99823896		2203	4300	6503	SO:0001583	missense	51805				glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity	g.chr6:99823896C>G	AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"""polyprenyldihydroxybenzoate methyltransferase"""	605196	"""coenzyme Q3 homolog, methyltransferase (yeast)"", ""coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"""			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.649G>C	6.37:g.99823896C>G	ENSP00000254759:p.Asp217His						p.D217H	NM_017421	NP_059117	Q9NZJ6	COQ3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0625)	5	676	-		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)	217					B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Missense_Mutation	SNP	ENST00000254759.3	37	c.649G>C	CCDS5042.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671648	0.67928	.	.	ENSG00000132423	ENST00000254759	T	0.52526	0.66	5.49	5.49	0.81192	Methyltransferase type 11 (1);	0.146073	0.64402	D	0.000012	T	0.77177	0.4092	H	0.97158	3.95	0.80722	D	1	D	0.69078	0.997	D	0.68353	0.957	D	0.85237	0.1036	10	0.87932	D	0	-15.615	19.3648	0.94458	0.0:1.0:0.0:0.0	.	217	Q9NZJ6	COQ3_HUMAN	H	217	ENSP00000254759:D217H	ENSP00000254759:D217H	D	-	1	0	COQ3	99930617	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.390000	0.59646	2.585000	0.87301	0.561000	0.74099	GAT		0.388	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041602.1		NM_017421		40	116	0	0	0	0.00623	0	40	116		
SIM1	6492	broad.mit.edu	37	6	100896129	100896129	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:100896129C>G	ENST00000369208.3	-	8	1526		c.e8-1		SIM1_ENST00000262901.4_Splice_Site			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTCCGCCACCCTGAGGAGAGC	0.637																																						uc003pqj.3		NaN																	0				ovary(4)	4						c.e7-1		single-minded homolog 1							89.0	68.0	75.0					6																	100896129		2203	4300	6503	SO:0001630	splice_region_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100896129C>G	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.744-1G>C	6.37:g.100896129C>G						SIM1_uc010kcu.2_Splice_Site_p.R248_splice	p.R248_splice	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	7	951	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)						Q5TDP7	Splice_Site	SNP	ENST00000369208.3	37	c.744_splice	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417367	0.62622	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	.	.	.	5.16	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7123	0.62675	0.0:0.9259:0.0:0.0741	.	.	.	.	.	-1	.	.	.	-	.	.	SIM1	101002850	1.000000	0.71417	0.999000	0.59377	0.757000	0.42996	7.378000	0.79679	1.182000	0.42928	0.561000	0.74099	.		0.637	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3		NM_005068	Intron	4	25	0	0	0	0.009096	0	4	25		
LAMA4	3910	broad.mit.edu	37	6	112476059	112476059	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:112476059C>G	ENST00000230538.7	-	16	2447	c.2050G>C	c.(2050-2052)Gag>Cag	p.E684Q	LAMA4_ENST00000424408.2_Missense_Mutation_p.E677Q|RP1-142L7.5_ENST00000585373.1_RNA|RP1-142L7.5_ENST00000425503.1_RNA|RP1-142L7.5_ENST00000588689.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.E677Q|LAMA4_ENST00000389463.4_Missense_Mutation_p.E677Q	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	684	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.E677K(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTACTAGACTCTGCCTTTGCT	0.393																																						uc003pvu.2		NaN																	1	Substitution - Missense(1)		skin(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(2050-2052)GAG>CAG		laminin, alpha 4 isoform 1 precursor							191.0	186.0	188.0					6																	112476059		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112476059C>G		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2050G>C	6.37:g.112476059C>G	ENSP00000230538:p.Glu684Gln					LAMA4_uc003pvv.2_Missense_Mutation_p.E677Q|LAMA4_uc003pvt.2_Missense_Mutation_p.E677Q	p.E684Q	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	16	2359	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	684			Domain II and I.|Potential.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.2050G>C	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620290	0.46736	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.12039	2.73;2.72;2.72;2.72	5.44	4.58	0.56647	.	0.646913	0.16948	N	0.193033	T	0.01353	0.0044	N	0.01874	-0.695	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.44922	-0.9296	10	0.10902	T	0.67	.	6.4882	0.22101	0.1323:0.6658:0.1283:0.0736	.	684;677	Q16363;Q16363-2	LAMA4_HUMAN;.	Q	684;677;677;677	ENSP00000230538:E684Q;ENSP00000429488:E677Q;ENSP00000374114:E677Q;ENSP00000416470:E677Q	ENSP00000230538:E684Q	E	-	1	0	LAMA4	112582752	0.996000	0.38824	0.916000	0.36221	0.973000	0.67179	1.160000	0.31761	1.539000	0.49286	0.591000	0.81541	GAG		0.393	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2		NM_001105206		25	58	0	0	0	0.005443	0	25	58		
VNN2	8875	broad.mit.edu	37	6	133073771	133073771	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:133073771G>T	ENST00000326499.6	-	4	779	c.655C>A	c.(655-657)Cct>Act	p.P219T	VNN2_ENST00000525289.1_Intron|VNN2_ENST00000526192.1_5'Flank|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000525270.1_Missense_Mutation_p.P166T	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	219	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GTAACACCAGGATCATAGAAG	0.438																																						uc003qdt.2		NaN																	0					0						c.(655-657)CCT>ACT		vanin 2 isoform 1 precursor							152.0	138.0	143.0					6																	133073771		2203	4300	6503	SO:0001583	missense	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133073771G>T	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.655C>A	6.37:g.133073771G>T	ENSP00000322276:p.Pro219Thr					VNN2_uc003qds.2_Intron|VNN2_uc010kgb.2_Intron|VNN2_uc003qdv.2_Missense_Mutation_p.P166T	p.P219T	NM_004665	NP_004656	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	4	666	-			219			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	c.655C>A	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163184	0.38217	.	.	ENSG00000112303	ENST00000326499;ENST00000525270	D;D	0.86230	-2.09;-2.09	5.41	3.53	0.40419	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.000000	0.64402	D	0.000004	D	0.89670	0.6782	M	0.79926	2.475	0.80722	D	1	D	0.61080	0.989	D	0.66497	0.944	D	0.89374	0.3677	10	0.56958	D	0.05	-10.8567	9.6699	0.40006	0.0803:0.1403:0.7794:0.0	.	219	O95498	VNN2_HUMAN	T	219;166	ENSP00000322276:P219T;ENSP00000436822:P166T	ENSP00000322276:P219T	P	-	1	0	VNN2	133115464	1.000000	0.71417	0.339000	0.25562	0.133000	0.20885	4.619000	0.61218	0.684000	0.31448	0.609000	0.83330	CCT		0.438	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2				45	109	1	0	9.84934e-19	0.002522	1.04245e-18	45	109		
THBS2	7058	broad.mit.edu	37	6	169623541	169623541	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:169623541C>T	ENST00000366787.3	-	19	3052	c.2803G>A	c.(2803-2805)Gat>Aat	p.D935N	THBS2_ENST00000488355.1_5'Flank|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	935					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTGTCAAAATCATCTTTACAA	0.418																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2		NaN																	0				ovary(5)	5						c.(2803-2805)GAT>AAT		thrombospondin 2 precursor							128.0	112.0	117.0					6																	169623541		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169623541C>T		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2803G>A	6.37:g.169623541C>T	ENSP00000355751:p.Asp935Asn						p.D935N	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	19	3051	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	935			TSP type-3 8.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.2803G>A	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118576	0.77323	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.99919	-8.0	4.73	3.85	0.44370	.	0.000000	0.43260	U	0.000600	D	0.99937	0.9972	H	0.94423	3.535	0.49299	D	0.999775	D	0.89917	1.0	D	0.97110	1.0	D	0.95900	0.8914	10	0.87932	D	0	-44.6165	14.8677	0.70430	0.0:0.8555:0.1445:0.0	.	935	P35442	TSP2_HUMAN	N	935;193	ENSP00000355751:D935N	ENSP00000355751:D935N	D	-	1	0	THBS2	169365466	1.000000	0.71417	0.654000	0.29608	0.720000	0.41350	7.272000	0.78516	0.947000	0.37659	0.471000	0.43371	GAT		0.418	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1		NM_003247		28	54	0	0	0	0.007291	0	28	54		
SUN1	23353	broad.mit.edu	37	7	883137	883137	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:883137C>G	ENST00000405266.1	+	5	662	c.638C>G	c.(637-639)tCt>tGt	p.S213C	SUN1_ENST00000425407.2_Missense_Mutation_p.S163C|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000401592.1_Missense_Mutation_p.S213C|SUN1_ENST00000457378.2_Missense_Mutation_p.S234C|SUN1_ENST00000389574.3_Missense_Mutation_p.S163C|SUN1_ENST00000403868.1_Missense_Mutation_p.S213C|SUN1_ENST00000456758.2_Missense_Mutation_p.S271C			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	213	SYNE2-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						AGAGTTTATTCTAGGGACAGG	0.502																																						uc011jvp.1		NaN																	0					0						c.(637-639)TCT>TGT		unc-84 homolog A isoform a							89.0	102.0	98.0					7																	883137		1868	4099	5967	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.chr7:883137C>G	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.638C>G	7.37:g.883137C>G	ENSP00000384116:p.Ser213Cys					SUN1_uc010ksa.1_Missense_Mutation_p.S234C|SUN1_uc003sje.1_Missense_Mutation_p.S213C|SUN1_uc003sjf.2_Missense_Mutation_p.S163C|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_Missense_Mutation_p.S24C	p.S213C	NM_001130965	NP_001124437	O94901	SUN1_HUMAN			6	717	+			213			SYNE2-binding.|Nuclear.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37	c.638C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.03|14.03	2.414050|2.414050	0.42817|0.42817	.|.	.|.	ENSG00000164828|ENSG00000164828	ENST00000419312|ENST00000456758;ENST00000389574;ENST00000457378;ENST00000405266;ENST00000401592;ENST00000403868;ENST00000297445;ENST00000425407;ENST00000429178	.|T;T;T;T;T;T;T;T	.|0.49139	.|0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	4.4|4.4	4.4|4.4	0.53042|0.53042	.|.	.|0.998207	.|0.08110	.|U	.|0.996296	T|T	0.68183|0.68183	0.2973|0.2973	M|M	0.62016|0.62016	1.91|1.91	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.996;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.956;0.991;0.999;0.999	T|T	0.59075|0.59075	-0.7522|-0.7522	5|10	.|0.42905	.|T	.|0.14	-20.3078|-20.3078	15.1434|15.1434	0.72630|0.72630	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|213;234;163;213	.|E9PF23;F8WD13;O94901-5;O94901-3	.|.;.;.;.	V|C	54|271;163;234;213;213;213;213;163;44	.|ENSP00000388743:S271C;ENSP00000374225:S163C;ENSP00000395952:S234C;ENSP00000384116:S213C;ENSP00000384015:S213C;ENSP00000383947:S213C;ENSP00000392309:S163C;ENSP00000409909:S44C	.|ENSP00000297445:S213C	L|S	+|+	1|2	2|0	SUN1|SUN1	849663|849663	0.964000|0.964000	0.33143|0.33143	0.248000|0.248000	0.24265|0.24265	0.032000|0.032000	0.12392|0.12392	2.248000|2.248000	0.43160|0.43160	2.162000|2.162000	0.67917|0.67917	0.591000|0.591000	0.81541|0.81541	CTA|TCT		0.502	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1		NM_025154		79	186	0	0	0	0.00361	0	79	186		
AP5Z1	9907	broad.mit.edu	37	7	4830402	4830402	+	Silent	SNP	C	C	T	rs569992088		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:4830402C>T	ENST00000348624.4	+	16	2131	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	AP5Z1_ENST00000490487.1_Intron|MIR4656_ENST00000579503.1_RNA	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	679					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											CTCTGCTATTCGAGGTCACCC	0.647																																						uc003sne.2		NaN																	0				central_nervous_system(1)	1						c.(2035-2037)TTC>TTT		hypothetical protein LOC9907							38.0	44.0	42.0					7																	4830402		2044	4192	6236	SO:0001819	synonymous_variant	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4830402C>T	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.2037C>T	7.37:g.4830402C>T						KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Silent_p.F156F	p.F679F	NM_014855	NP_055670	O43299	K0415_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)	16	2120	+		Ovarian(82;0.0175)	679					Q8N3X2|Q96H80	Silent	SNP	ENST00000348624.4	37	c.2037C>T	CCDS47528.1																																																																																				0.647	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1				8	11	0	0	0	0.00308	0	8	11		
CCZ1	51622	broad.mit.edu	37	7	5942310	5942310	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:5942310C>G	ENST00000325974.6	+	6	523	c.457C>G	c.(457-459)Ctg>Gtg	p.L153V	CCZ1_ENST00000537980.1_Missense_Mutation_p.L10V	NM_015622.5	NP_056437.4	P86791	CCZ1_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)	153				LKAMEDGGVK -> PESHGRRRVQ (in Ref. 1; AAD34038). {ECO:0000305}.		lysosome (GO:0005764)|membrane (GO:0016020)				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						TGGTACATTTCTGAAAGCCAT	0.323																																						uc003spf.2		NaN																	0					0						c.(457-459)CTG>GTG		hypothetical protein LOC51622							40.0	43.0	42.0					7																	5942310		2195	4292	6487	SO:0001583	missense	51622					lysosomal membrane		g.chr7:5942310C>G	AF151801	CCDS34597.1	7p22.1	2014-02-13	2010-06-29	2010-06-29	ENSG00000122674	ENSG00000122674			21691	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 28A"""	C7orf28A		10810093, 20305638	Standard	NM_015622		Approved	CGI-43, CCZ1A	uc003spf.3	P86791	OTTHUMG00000155502	ENST00000325974.6:c.457C>G	7.37:g.5942310C>G	ENSP00000325681:p.Leu153Val						p.L153V	NM_015622	NP_056437	P86791	CCZ1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)|OV - Ovarian serous cystadenocarcinoma(56;7.91e-15)	6	547	+		Ovarian(82;0.0694)	153	LKAMEDGGVK -> PESHGRRRVQ (in Ref. 1; AAD34038).				A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	ENST00000325974.6	37	c.457C>G	CCDS34597.1	.	.	.	.	.	.	.	.	.	.	C	9.399	1.077470	0.20227	.	.	ENSG00000122674	ENST00000325974;ENST00000537980	.	.	.	5.72	-0.55	0.11825	.	0.423631	0.23007	N	0.053008	T	0.13030	0.0316	N	0.08118	0	0.25452	N	0.987994	B	0.14012	0.009	B	0.11329	0.006	T	0.09618	-1.0666	9	0.30854	T	0.27	-14.7292	1.0377	0.01552	0.2327:0.3978:0.1132:0.2564	.	153	P86790	CCZ1L_HUMAN	V	153;10	.	ENSP00000325681:L153V	L	+	1	2	CCZ1	5908836	0.603000	0.26924	0.993000	0.49108	0.951000	0.60555	0.154000	0.16343	-0.108000	0.12066	-0.806000	0.03193	CTG		0.323	CCZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340391.1		NM_015622		19	33	0	0	0	0.005443	0	19	33		
ABCA13	154664	broad.mit.edu	37	7	48312697	48312697	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:48312697A>G	ENST00000435803.1	+	17	3458	c.3434A>G	c.(3433-3435)cAc>cGc	p.H1145R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1145					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATGTCCATTCACTGTACCGTT	0.353																																						uc003toq.2		NaN																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(3433-3435)CAC>CGC		ATP binding cassette, sub-family A (ABC1),							93.0	88.0	90.0					7																	48312697		1844	4097	5941	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48312697A>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.3434A>G	7.37:g.48312697A>G	ENSP00000411096:p.His1145Arg					ABCA13_uc010kyr.2_Missense_Mutation_p.H648R	p.H1145R	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	3459	+			1145					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.3434A>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.598146	0.28445	.	.	ENSG00000179869	ENST00000435803	D	0.84873	-1.91	5.77	1.95	0.26073	.	0.279231	0.25830	N	0.028021	T	0.76997	0.4066	M	0.62723	1.935	0.80722	D	1	P	0.37330	0.59	B	0.30646	0.118	T	0.67745	-0.5591	9	.	.	.	.	5.7487	0.18134	0.7126:0.1411:0.1463:0.0	.	1145	Q86UQ4	ABCAD_HUMAN	R	1145	ENSP00000411096:H1145R	.	H	+	2	0	ABCA13	48283243	0.123000	0.22298	0.826000	0.32828	0.052000	0.14988	0.389000	0.20751	0.146000	0.19002	0.533000	0.62120	CAC		0.353	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701		15	43	0	0	0	0.006122	0	15	43		
ASL	435	broad.mit.edu	37	7	65548157	65548157	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:65548157G>C	ENST00000304874.9	+	6	544	c.442G>C	c.(442-444)Gag>Cag	p.E148Q	ASL_ENST00000380839.4_Missense_Mutation_p.E148Q|ASL_ENST00000395331.3_Missense_Mutation_p.E148Q|ASL_ENST00000395332.3_Missense_Mutation_p.E148Q	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	148					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GGATCGGGCAGAGGCGTGAGT	0.637																																						uc003tuo.2		NaN																	0				breast(2)	2						c.(442-444)GAG>CAG		argininosuccinate lyase isoform 1	L-Arginine(DB00125)						38.0	36.0	37.0					7																	65548157		2203	4300	6503	SO:0001583	missense	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65548157G>C		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.442G>C	7.37:g.65548157G>C	ENSP00000307188:p.Glu148Gln					ASL_uc011kdu.1_Missense_Mutation_p.E148Q|ASL_uc010kzx.1_3'UTR|ASL_uc011kdv.1_Missense_Mutation_p.E148Q|ASL_uc003tup.2_Missense_Mutation_p.E148Q|ASL_uc003tur.2_Missense_Mutation_p.E148Q|ASL_uc003tuq.2_Missense_Mutation_p.E148Q	p.E148Q	NM_000048	NP_000039	P04424	ARLY_HUMAN			6	553	+			148					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	c.442G>C	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	g	16.38	3.107452	0.56291	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000362000;ENST00000395331	D;D;D;D;D	0.99399	-5.83;-5.83;-5.83;-5.83;-5.83	4.62	4.62	0.57501	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.104354	0.64402	D	0.000005	D	0.98365	0.9457	L	0.39147	1.195	0.40938	D	0.984445	B;B;B;B	0.33940	0.217;0.416;0.384;0.433	B;B;B;B	0.38921	0.113;0.285;0.113;0.173	D	0.99941	1.1411	10	0.66056	D	0.02	.	16.6169	0.84918	0.0:0.0:1.0:0.0	.	148;148;148;148	B4DU69;E9PE48;E7EMI0;P04424	.;.;.;ARLY_HUMAN	Q	148;148;148;83;148	ENSP00000307188:E148Q;ENSP00000370219:E148Q;ENSP00000378741:E148Q;ENSP00000354710:E83Q;ENSP00000378740:E148Q	ENSP00000307188:E148Q	E	+	1	0	ASL	65185592	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	4.356000	0.59430	2.401000	0.81631	0.407000	0.27541	GAG		0.637	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2		NM_000048		16	22	0	0	0	0.004007	0	16	22		
CYP3A4	1576	broad.mit.edu	37	7	99367796	99367796	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:99367796C>T	ENST00000336411.2	-	5	564	c.381G>A	c.(379-381)aaG>aaA	p.K127K	CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	127					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	ATCGTAATCTCTTCCATTCTT	0.378																																						uc003urv.1		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(379-381)AAG>AAA		cytochrome P450, family 3, subfamily A,	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)						143.0	126.0	132.0					7																	99367796		2203	4300	6503	SO:0001819	synonymous_variant	1576				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	g.chr7:99367796C>T	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.381G>A	7.37:g.99367796C>T						CYP3A4_uc003urw.1_Silent_p.K127K|CYP3A4_uc011kiz.1_Intron|CYP3A4_uc011kja.1_Silent_p.K78K|CYP3A4_uc011kjb.1_Intron	p.K127K	NM_017460	NP_059488	P08684	CP3A4_HUMAN			5	485	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		127					P05184|Q16757|Q9UK50	Silent	SNP	ENST00000336411.2	37	c.381G>A	CCDS5674.1																																																																																				0.378	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1				34	58	0	0	0	0.003271	0	34	58		
UBN2	254048	broad.mit.edu	37	7	138968238	138968238	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:138968238C>G	ENST00000473989.3	+	15	2587	c.2587C>G	c.(2587-2589)Cag>Gag	p.Q863E	UBN2_ENST00000288561.8_Missense_Mutation_p.Q780E	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	863						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TTCTTCCATTCAGAACCCTAA	0.463																																						uc011kqr.1		NaN																	0				ovary(1)|skin(1)	2						c.(2587-2589)CAG>GAG		ubinuclein 2							84.0	83.0	84.0					7																	138968238		1884	4102	5986	SO:0001583	missense	254048							g.chr7:138968238C>G	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2587C>G	7.37:g.138968238C>G	ENSP00000418648:p.Gln863Glu						p.Q863E	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN			15	2587	+			863					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.2587C>G	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471448	0.63737	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.32753	1.44;1.47	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000001	T	0.47985	0.1475	L	0.46157	1.445	0.48040	D	0.999572	D	0.54964	0.969	D	0.64877	0.93	T	0.10567	-1.0624	10	0.22109	T	0.4	-10.0751	19.6532	0.95825	0.0:1.0:0.0:0.0	.	863	Q6ZU65	UBN2_HUMAN	E	863;780	ENSP00000418648:Q863E;ENSP00000288561:Q780E	ENSP00000288561:Q780E	Q	+	1	0	UBN2	138618778	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.317000	0.65822	2.718000	0.92993	0.467000	0.42956	CAG		0.463	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3		NM_173569		42	66	0	0	0	0.006999	0	42	66		
ZNF777	27153	broad.mit.edu	37	7	149152725	149152725	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:149152725T>G	ENST00000247930.4	-	2	712	c.389A>C	c.(388-390)cAc>cCc	p.H130P		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	130					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)			TTCAGGGGAGTGAACGGGGGC	0.612																																						uc003wfv.2		NaN																	0				skin(1)	1						c.(388-390)CAC>CCC		zinc finger protein 777							91.0	103.0	100.0					7																	149152725		1857	4094	5951	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149152725T>G	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.389A>C	7.37:g.149152725T>G	ENSP00000247930:p.His130Pro						p.H130P	NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	552	-	Melanoma(164;0.165)		130					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.389A>C	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	T	6.189	0.403106	0.11754	.	.	ENSG00000196453	ENST00000247930	T	0.05447	3.44	4.94	-0.748	0.11087	.	0.641937	0.13663	N	0.371434	T	0.03434	0.0099	L	0.27053	0.805	0.09310	N	1	B	0.25105	0.118	B	0.22753	0.041	T	0.41645	-0.9497	10	0.32370	T	0.25	-4.6203	0.734	0.00962	0.1554:0.1943:0.1874:0.463	.	130	Q9ULD5-2	.	P	130	ENSP00000247930:H130P	ENSP00000247930:H130P	H	-	2	0	ZNF777	148783658	0.998000	0.40836	0.015000	0.15790	0.317000	0.28152	0.188000	0.17018	-0.052000	0.13311	0.379000	0.24179	CAC		0.612	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1		NM_015694		98	192	0	0	0	0.00361	0	98	192		
NOS3	4846	broad.mit.edu	37	7	150699002	150699002	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:150699002G>C	ENST00000484524.1	+	12	1596	c.1596G>C	c.(1594-1596)caG>caC	p.Q532H	NOS3_ENST00000467517.1_Missense_Mutation_p.Q532H|NOS3_ENST00000297494.3_Missense_Mutation_p.Q532H|NOS3_ENST00000461406.1_Missense_Mutation_p.Q326H	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)		GCCGGGCCCAGAGCTACGCAC	0.647																																						uc003wif.2		NaN																	0				central_nervous_system(5)|large_intestine(2)|skin(1)	8						c.(1594-1596)CAG>CAC		nitric oxide synthase 3 isoform 1	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						40.0	44.0	43.0					7																	150699002		2203	4300	6503	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.chr7:150699002G>C		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.1596G>C	7.37:g.150699002G>C	ENSP00000420215:p.Gln532His					NOS3_uc011kuy.1_Missense_Mutation_p.Q326H|NOS3_uc011kuz.1_Missense_Mutation_p.Q532H|NOS3_uc011kva.1_Missense_Mutation_p.Q532H|NOS3_uc011kvb.1_Missense_Mutation_p.Q532H	p.Q532H	NM_000603	NP_000594	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	13	1892	+	all_neural(206;0.219)		532			Flavodoxin-like.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.1596G>C	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.779025	0.49891	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	4.8	4.8	0.61643	Flavodoxin/nitric oxide synthase (2);	0.121589	0.36167	N	0.002754	T	0.81754	0.4889	M	0.62016	1.91	0.40583	D	0.981416	P;P;B;B;B	0.51791	0.948;0.948;0.025;0.004;0.01	P;P;B;B;B	0.57425	0.713;0.82;0.093;0.049;0.081	D	0.84403	0.0561	10	0.66056	D	0.02	-11.1528	15.7394	0.77876	0.0:0.0:1.0:0.0	.	532;532;532;326;532	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	H	532;326;532;532	ENSP00000297494:Q532H;ENSP00000417143:Q326H;ENSP00000420215:Q532H;ENSP00000420551:Q532H	ENSP00000297494:Q532H	Q	+	3	2	NOS3	150329935	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	2.888000	0.48594	2.376000	0.81061	0.655000	0.94253	CAG		0.647	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1		NM_000603		19	39	0	0	0	0.006122	0	19	39		
LGI3	203190	broad.mit.edu	37	8	22005745	22005745	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:22005745C>A	ENST00000306317.2	-	8	1864	c.1575G>T	c.(1573-1575)caG>caT	p.Q525H	LGI3_ENST00000424267.2_Missense_Mutation_p.Q501H	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	525					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCAGGAGTAGCTGGGCGTCCC	0.607																																						uc003xav.2		NaN																	0				ovary(1)	1						c.(1573-1575)CAG>CAT		leucine-rich repeat LGI family, member 3							83.0	79.0	80.0					8																	22005745		2203	4300	6503	SO:0001583	missense	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22005745C>A	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.1575G>T	8.37:g.22005745C>A	ENSP00000302297:p.Gln525His					LGI3_uc010ltu.2_Missense_Mutation_p.Q501H	p.Q525H	NM_139278	NP_644807	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	8	1864	-			525			EAR 7.		A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	ENST00000306317.2	37	c.1575G>T	CCDS6025.1	.	.	.	.	.	.	.	.	.	.	c	14.41	2.528571	0.44969	.	.	ENSG00000168481	ENST00000306317;ENST00000424267	T;T	0.80909	-1.43;-1.43	4.95	3.11	0.35812	.	0.201844	0.43260	N	0.000592	T	0.75148	0.3810	N	0.12182	0.205	0.27009	N	0.964731	D;D	0.61080	0.989;0.977	P;P	0.60789	0.879;0.796	T	0.66984	-0.5785	10	0.54805	T	0.06	-11.2915	7.9354	0.29927	0.3263:0.5157:0.1581:0.0	.	501;525	A5PLP2;Q8N145	.;LGI3_HUMAN	H	525;501	ENSP00000302297:Q525H;ENSP00000399121:Q501H	ENSP00000302297:Q525H	Q	-	3	2	LGI3	22061690	0.898000	0.30612	1.000000	0.80357	0.868000	0.49771	0.112000	0.15479	0.448000	0.26722	-0.219000	0.12488	CAG		0.607	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1				34	39	1	0	7.11191e-15	0.002836	7.47266e-15	34	39		
GSR	2936	broad.mit.edu	37	8	30557646	30557646	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:30557646C>T	ENST00000221130.5	-	6	737	c.647G>A	c.(646-648)aGc>aAc	p.S216N	GSR_ENST00000537535.1_Missense_Mutation_p.S216N|GSR_ENST00000414019.1_Missense_Mutation_p.S173N|GSR_ENST00000541648.1_Missense_Mutation_p.S216N|GSR_ENST00000546342.1_Missense_Mutation_p.S216N	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	216					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	TATTCCTAAGCTGGCACCTAT	0.428																																						uc003xih.1		NaN																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(646-648)AGC>AAC		glutathione reductase precursor	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)						120.0	111.0	114.0					8																	30557646		2203	4300	6503	SO:0001583	missense	2936				cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity	g.chr8:30557646C>T		CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.647G>A	8.37:g.30557646C>T	ENSP00000221130:p.Ser216Asn						p.S216N	NM_000637	NP_000628	P00390	GSHR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	6	738	-			216					C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	ENST00000221130.5	37	c.647G>A	CCDS34877.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.685850	0.29962	.	.	ENSG00000104687	ENST00000221130;ENST00000414019;ENST00000546342;ENST00000541648;ENST00000537535;ENST00000521479	T;T;T;T;T;T	0.45668	1.72;1.72;0.89;0.89;0.89;0.89	5.96	5.09	0.68999	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.199584	0.64402	N	0.000008	T	0.32971	0.0847	L	0.35593	1.075	0.44036	D	0.996762	B	0.02656	0.0	B	0.04013	0.001	T	0.12967	-1.0527	10	0.87932	D	0	0.0088	11.0612	0.47948	0.0:0.9153:0.0:0.0847	.	216	P00390	GSHR_HUMAN	N	216;173;216;216;216;104	ENSP00000221130:S216N;ENSP00000390065:S173N;ENSP00000445516:S216N;ENSP00000444559:S216N;ENSP00000438845:S216N;ENSP00000430825:S104N	ENSP00000221130:S216N	S	-	2	0	GSR	30677188	1.000000	0.71417	0.990000	0.47175	0.190000	0.23558	2.126000	0.42026	1.527000	0.49086	0.655000	0.94253	AGC		0.428	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376519.1				24	25	0	0	0	0.00333	0	24	25		
ADAM32	203102	broad.mit.edu	37	8	39044508	39044508	+	Silent	SNP	C	C	T	rs368424322	byFrequency	TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:39044508C>T	ENST00000379907.4	+	11	1123	c.996C>T	c.(994-996)gaC>gaT	p.D332D	ADAM32_ENST00000519315.1_Intron|ADAM32_ENST00000437682.2_Intron	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	332	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D331D(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TATCATATGACGACCCAAAGA	0.348													T|||	2	0.000399361	0.0	0.0	5008	,	,		13968	0.001		0.0	False		,,,				2504	0.001					uc003xmt.3		NaN																	1	Substitution - coding silent(1)		endometrium(1)	ovary(1)|lung(1)|kidney(1)	3						c.(994-996)GAC>GAT		a disintegrin and metalloprotease domain 32		T		1,3651		0,1,1825	87.0	86.0	87.0		996	3.0	1.0	8		87	0,8176		0,0,4088	no	coding-synonymous	ADAM32	NM_145004.5		0,1,5913	TT,TC,CC		0.0,0.0274,0.0085		332/788	39044508	1,11827	1826	4088	5914	SO:0001819	synonymous_variant	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39044508C>T	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.996C>T	8.37:g.39044508C>T						ADAM32_uc011lch.1_Intron|ADAM32_uc003xmu.3_Intron	p.D332D	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		11	1241	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	332			Peptidase M12B.|Extracellular (Potential).		Q8TC42	Silent	SNP	ENST00000379907.4	37	c.996C>T	CCDS47846.1																																																																																				0.348	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1		NM_145004		103	32	0	0	0	0.00361	0	103	32		
RDH10	157506	broad.mit.edu	37	8	74235043	74235043	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:74235043G>C	ENST00000240285.5	+	5	1578	c.900G>C	c.(898-900)aaG>aaC	p.K300N	RP11-434I12.2_ENST00000514599.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.K135N|RP11-434I12.2_ENST00000517475.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	300					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			CCTTCATGAAGAGGTAACTGG	0.512																																						uc003xzi.2		NaN																	0					0						c.(898-900)AAG>AAC		retinol dehydrogenase 10							113.0	102.0	106.0					8																	74235043		2203	4300	6503	SO:0001583	missense	157506				retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr8:74235043G>C	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	19975	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 4"""	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.900G>C	8.37:g.74235043G>C	ENSP00000240285:p.Lys300Asn					RDH10_uc003xzj.2_Missense_Mutation_p.K135N|uc003xzk.1_Intron	p.K300N	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		5	1160	+	Breast(64;0.0954)		300						Missense_Mutation	SNP	ENST00000240285.5	37	c.900G>C	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.823041	0.71028	.	.	ENSG00000121039	ENST00000240285;ENST00000519380	D;T	0.89681	-2.55;0.7	5.55	4.68	0.58851	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91277	0.7250	M	0.67397	2.05	0.58432	D	0.999999	D	0.76494	0.999	D	0.64144	0.922	D	0.90283	0.4316	10	0.49607	T	0.09	.	6.1103	0.20097	0.2991:0.0:0.7009:0.0	.	300	Q8IZV5	RDH10_HUMAN	N	300;135	ENSP00000240285:K300N;ENSP00000428132:K135N	ENSP00000240285:K300N	K	+	3	2	RDH10	74397597	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.170000	0.50816	1.575000	0.49775	0.591000	0.81541	AAG		0.512	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1				31	51	0	0	0	0.002836	0	31	51		
ZFAND1	79752	broad.mit.edu	37	8	82626198	82626198	+	Silent	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:82626198C>T	ENST00000220669.5	-	6	453	c.435G>A	c.(433-435)ttG>ttA	p.L145L	ZFAND1_ENST00000523096.1_Silent_p.L145L|ZFAND1_ENST00000521287.1_Silent_p.L38L|ZFAND1_ENST00000517588.1_Silent_p.L38L|ZFAND1_ENST00000521895.1_Silent_p.L38L|ZFAND1_ENST00000519523.1_Silent_p.L145L|ZFAND1_ENST00000522520.1_Silent_p.L38L	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	145							zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						TTAATTTCATCAATGCAACCT	0.358																																						uc003ycj.1		NaN																	0				ovary(1)	1						c.(433-435)TTG>TTA		zinc finger, AN1-type domain 1							196.0	169.0	178.0					8																	82626198		2203	4300	6503	SO:0001819	synonymous_variant	79752						zinc ion binding	g.chr8:82626198C>T		CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"""Zinc fingers, AN1-type domain containing"""	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.435G>A	8.37:g.82626198C>T						ZFAND1_uc010lzx.1_Silent_p.L145L|ZFAND1_uc003yck.1_Silent_p.L38L	p.L145L	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN			6	449	-			145					E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Silent	SNP	ENST00000220669.5	37	c.435G>A	CCDS6232.1																																																																																				0.358	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1		NM_024699		19	27	0	0	0	0.007413	0	19	27		
RAD54B	25788	broad.mit.edu	37	8	95392433	95392433	+	Silent	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:95392433G>T	ENST00000336148.5	-	12	2311	c.2187C>A	c.(2185-2187)ctC>ctA	p.L729L		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	729	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ATCCTCCAATGAGGTTAAGTC	0.353								Direct reversal of damage;Homologous recombination																														uc003ygk.2		NaN																	0				kidney(2)|lung(1)|skin(1)	4						c.(2185-2187)CTC>CTA	Direct_reversal_of_damage|Homologous_recombination	RAD54 homolog B							62.0	60.0	61.0					8																	95392433		2203	4300	6503	SO:0001819	synonymous_variant	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95392433G>T	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.2187C>A	8.37:g.95392433G>T						RAD54B_uc010may.1_Silent_p.L536L	p.L729L	NM_012415	NP_036547	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		12	2285	-	Breast(36;4.5e-05)		Error:Variant_position_missing_in_O95073_after_alignment					F6WBS8	Silent	SNP	ENST00000336148.5	37	c.2187C>A	CCDS6262.1																																																																																				0.353	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3		NM_012415		14	19	1	0	1.49906e-05	0.00245	1.52536e-05	14	19		
RAD54B	25788	broad.mit.edu	37	8	95392461	95392461	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:95392461G>C	ENST00000336148.5	-	12	2283	c.2159C>G	c.(2158-2160)tCa>tGa	p.S720*		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	720	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ACCAGCTTTTGAACTTAACAA	0.368								Direct reversal of damage;Homologous recombination																														uc003ygk.2		NaN																	0				kidney(2)|lung(1)|skin(1)	4						c.(2158-2160)TCA>TGA	Direct_reversal_of_damage|Homologous_recombination	RAD54 homolog B							65.0	63.0	63.0					8																	95392461		2203	4300	6503	SO:0001587	stop_gained	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95392461G>C	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.2159C>G	8.37:g.95392461G>C	ENSP00000336606:p.Ser720*					RAD54B_uc010may.1_Nonsense_Mutation_p.S527*	p.S720*	NM_012415	NP_036547	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		12	2257	-	Breast(36;4.5e-05)		Error:Variant_position_missing_in_O95073_after_alignment					F6WBS8	Nonsense_Mutation	SNP	ENST00000336148.5	37	c.2159C>G	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	G	39	7.325909	0.98214	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	.	.	.	5.83	5.83	0.93111	.	0.133198	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.8939	18.2956	0.90145	0.0:0.0:1.0:0.0	.	.	.	.	X	720;392	.	ENSP00000336606:S720X	S	-	2	0	RAD54B	95461637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.624000	0.98398	2.761000	0.94854	0.650000	0.86243	TCA		0.368	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3		NM_012415		11	24	0	0	0	0.008291	0	11	24		
UBR5	51366	broad.mit.edu	37	8	103357737	103357737	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:103357737G>A	ENST00000520539.1	-	8	1379	c.773C>T	c.(772-774)tCt>tTt	p.S258F	UBR5_ENST00000521922.1_Missense_Mutation_p.S258F|UBR5_ENST00000220959.4_Missense_Mutation_p.S258F	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	258				S -> Y (in Ref. 2; AAF88143). {ECO:0000305}.	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)			TGGGTGGGCAGAATGAATGTC	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.(772-774)TCT>TTT		ubiquitin protein ligase E3 component n-recognin							108.0	97.0	101.0					8																	103357737		2203	4300	6503	SO:0001583	missense	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.chr8:103357737G>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.773C>T	8.37:g.103357737G>A	ENSP00000429084:p.Ser258Phe					UBR5_uc003yks.1_Missense_Mutation_p.S258F	p.S258F	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		8	806	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		258	S -> Y (in Ref. 2; AAF88143).				B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.773C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688279	0.88639	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.49139	0.79;0.79;0.79	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.49490	0.1560	L	0.48642	1.525	0.58432	D	0.999998	P;P	0.46512	0.879;0.879	B;B	0.43575	0.424;0.424	T	0.52638	-0.8549	10	0.66056	D	0.02	.	20.0016	0.97412	0.0:0.0:1.0:0.0	.	258;258	E7EMW7;O95071	.;UBR5_HUMAN	F	258	ENSP00000429084:S258F;ENSP00000220959:S258F;ENSP00000427819:S258F	ENSP00000220959:S258F	S	-	2	0	UBR5	103426913	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.009000	0.88606	2.802000	0.96397	0.655000	0.94253	TCT		0.413	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2		NM_015902		17	31	0	0	0	0.006122	0	17	31		
CSMD3	114788	broad.mit.edu	37	8	113529420	113529420	+	Silent	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:113529420G>A	ENST00000297405.5	-	28	4843	c.4599C>T	c.(4597-4599)gtC>gtT	p.V1533V	CSMD3_ENST00000343508.3_Silent_p.V1493V|CSMD3_ENST00000455883.2_Silent_p.V1429V|CSMD3_ENST00000352409.3_Silent_p.V1533V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1533	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATTCATGGGGACCCCTGGGT	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(4597-4599)GTC>GTT		CUB and Sushi multiple domains 3 isoform 1							65.0	58.0	61.0					8																	113529420		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113529420G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4599C>T	8.37:g.113529420G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.V805V|CSMD3_uc003ynt.2_Silent_p.V1493V|CSMD3_uc011lhx.1_Silent_p.V1429V	p.V1533V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			28	4758	-			1533			Extracellular (Potential).|Sushi 8.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.4599C>T	CCDS6315.1																																																																																				0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		17	30	0	0	0	0.007413	0	17	30		
HAS2	3037	broad.mit.edu	37	8	122626714	122626714	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:122626714C>G	ENST00000303924.4	-	4	1831	c.1294G>C	c.(1294-1296)Gtc>Ctc	p.V432L		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	432					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AAGACCATGACGATATTTCCT	0.428																																						uc003yph.2		NaN																HAS2/PLAG1(10)	0				soft_tissue(10)|ovary(5)	15						c.(1294-1296)GTC>CTC		hyaluronan synthase 2							154.0	148.0	150.0					8																	122626714		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122626714C>G	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1294G>C	8.37:g.122626714C>G	ENSP00000306991:p.Val432Leu						p.V432L	NM_005328	NP_005319	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		4	1832	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		432			Helical; Name=5; (Potential).		Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.1294G>C	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666643	0.29604	.	.	ENSG00000170961	ENST00000303924	T	0.44482	0.92	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.33527	0.0866	N	0.17474	0.49	0.80722	D	1	B	0.21606	0.058	B	0.28465	0.09	T	0.08973	-1.0696	10	0.20519	T	0.43	-23.0336	20.5792	0.99380	0.0:1.0:0.0:0.0	.	432	Q92819	HAS2_HUMAN	L	432	ENSP00000306991:V432L	ENSP00000306991:V432L	V	-	1	0	HAS2	122695895	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.972000	0.63756	2.873000	0.98535	0.561000	0.74099	GTC		0.428	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2		NM_005328		9	206	0	0	0	0.004482	0	9	206		
DGAT1	8694	broad.mit.edu	37	8	145540687	145540687	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr8:145540687C>G	ENST00000332324.4	-	15	1519	c.1246G>C	c.(1246-1248)Gag>Cag	p.E416Q	GS1-393G12.12_ENST00000525023.1_RNA|DGAT1_ENST00000527438.1_5'UTR	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	416					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCACTGACCTCGTGGAAGAAG	0.647																																						uc003zbv.3		NaN																	0					0						c.(1246-1248)GAG>CAG		diacylglycerol O-acyltransferase 1							51.0	52.0	52.0					8																	145540687		2203	4296	6499	SO:0001583	missense	8694				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr8:145540687C>G	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.1246G>C	8.37:g.145540687C>G	ENSP00000332258:p.Glu416Gln					DGAT1_uc010mfv.2_Missense_Mutation_p.R250P	p.E416Q	NM_012079	NP_036211	O75907	DGAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		15	1514	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		416			Lumenal (Potential).		B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP	ENST00000332324.4	37	c.1246G>C	CCDS6420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.950133|4.950133	0.92660|0.92660	.|.	.|.	ENSG00000185000|ENSG00000185000	ENST00000332324|ENST00000526479	T|.	0.73681|.	-0.77|.	4.55|4.55	4.55|4.55	0.56014|0.56014	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84392|0.84392	0.5462|0.5462	M|M	0.93062|0.93062	3.375|3.375	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.76494	1.0|0.999	D|D	0.81914|0.85130	0.995|0.997	D|D	0.85025|0.85025	0.0914|0.0914	10|8	0.62326|0.27785	D|T	0.03|0.31	-24.3873|-24.3873	14.8307|14.8307	0.70146|0.70146	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	416|250	O75907|E9PS80	DGAT1_HUMAN|.	Q|P	416|250	ENSP00000332258:E416Q|.	ENSP00000332258:E416Q|ENSP00000435883:R250P	E|R	-|-	1|2	0|0	DGAT1|DGAT1	145511495|145511495	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.923000|0.923000	0.55619|0.55619	7.127000|7.127000	0.77210|0.77210	2.368000|2.368000	0.80403|0.80403	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.647	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3		NM_012079		19	37	0	0	0	0.006122	0	19	37		
TTC16	158248	broad.mit.edu	37	9	130482603	130482603	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr9:130482603G>T	ENST00000373289.3	+	6	666	c.586G>T	c.(586-588)Gag>Tag	p.E196*	TTC16_ENST00000393748.4_Nonsense_Mutation_p.E20*|PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	196										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CATCACCAACGAGCTGAAGCA	0.622																																						uc004brq.1		NaN																	0					0						c.(586-588)GAG>TAG		tetratricopeptide repeat domain 16							112.0	106.0	108.0					9																	130482603		2203	4300	6503	SO:0001587	stop_gained	158248						binding	g.chr9:130482603G>T	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.586G>T	9.37:g.130482603G>T	ENSP00000362386:p.Glu196*					PTRH1_uc011mah.1_Intron|TTC16_uc011mai.1_Nonsense_Mutation_p.E183*|TTC16_uc004brr.1_Nonsense_Mutation_p.E141*|TTC16_uc010mxn.1_5'UTR	p.E196*	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN			6	653	+			196					B4DYG4|B5ME24|Q5JU66|Q96M72	Nonsense_Mutation	SNP	ENST00000373289.3	37	c.586G>T	CCDS6875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.578404|5.578404	0.96565|0.96565	.|.	.|.	ENSG00000167094|ENSG00000167094	ENST00000373289;ENST00000393748;ENST00000316259|ENST00000373288	.|.	.|.	.|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.144238|.	0.46758|.	D|.	0.000280|.	.|T	.|0.65770	.|0.2723	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76716	.|-0.2857	.|4	0.13108|0.87932	T|D	0.6|0	-39.2777|-39.2777	10.8206|10.8206	0.46601|0.46601	0.0873:0.0:0.9127:0.0|0.0873:0.0:0.9127:0.0	.|.	.|.	.|.	.|.	X|L	196;20;141|21	.|.	ENSP00000319048:E141X|ENSP00000362385:R21L	E|R	+|+	1|2	0|0	TTC16|TTC16	129522424|129522424	0.993000|0.993000	0.37304|0.37304	0.814000|0.814000	0.32528|0.32528	0.091000|0.091000	0.18340|0.18340	1.625000|1.625000	0.37029|0.37029	2.414000|2.414000	0.81942|0.81942	0.305000|0.305000	0.20034|0.20034	GAG|CGA		0.622	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1		NM_144965		50	37	1	0	4.18559e-23	0.00361	4.46257e-23	50	37		
TSC1	7248	broad.mit.edu	37	9	135781236	135781236	+	Nonsense_Mutation	SNP	C	C	A	rs118203570|rs118203568|rs118203569		TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr9:135781236C>A	ENST00000298552.3	-	15	1950	c.1729G>T	c.(1729-1731)Gag>Tag	p.E577*	TSC1_ENST00000440111.2_Nonsense_Mutation_p.E577*|TSC1_ENST00000545250.1_Nonsense_Mutation_p.E526*	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	577			E -> D. {ECO:0000269|PubMed:10607950}.		activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ATACTGGTCTCCAAAGAAGTC	0.547			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc004cca.2		NaN	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	D|Mis|N|F|S	tuberous sclerosis 1 gene			"""E, O"""		hamartoma|renal cell			1	Unknown(1)	p.?(1)	bone(1)	lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14	GRCh37	CM981936	TSC1	M	rs118203570	c.(1729-1731)GAG>TAG		tuberous sclerosis 1 protein isoform 1							64.0	70.0	68.0					9																	135781236		2203	4300	6503	SO:0001587	stop_gained	7248	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135781236C>A	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1729G>T	9.37:g.135781236C>A	ENSP00000298552:p.Glu577*					TSC1_uc004ccb.3_Nonsense_Mutation_p.E576*|TSC1_uc011mcq.1_Nonsense_Mutation_p.E526*|TSC1_uc011mcr.1_Intron	p.E577*	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	15	1963	-			577		E -> D.			B7Z897|Q5VVN5	Nonsense_Mutation	SNP	ENST00000298552.3	37	c.1729G>T	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	C	40	8.387821	0.98789	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	.	.	.	5.94	5.94	0.96194	.	0.081299	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-22.2102	19.354	0.94404	0.0:1.0:0.0:0.0	.	.	.	.	X	577;577;526	.	ENSP00000298552:E577X	E	-	1	0	TSC1	134771057	1.000000	0.71417	0.878000	0.34440	0.727000	0.41649	4.026000	0.57232	2.820000	0.97059	0.650000	0.86243	GAG		0.547	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1				22	21	1	0	4.26978e-12	0.00333	4.43812e-12	22	21		
GPSM1	26086	broad.mit.edu	37	9	139250815	139250815	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr9:139250815C>T	ENST00000440944.1	+	13	1854	c.1634C>T	c.(1633-1635)tCg>tTg	p.S545L	GPSM1_ENST00000429455.1_Missense_Mutation_p.S36L|GPSM1_ENST00000392944.1_Missense_Mutation_p.S36L	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	545					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		ATGACGGCCTCGCCCCAGACC	0.721																																						uc004chd.2		NaN																	0					0						c.(1633-1635)TCG>TTG		G-protein signaling modulator 1 (AGS3-like, C.							12.0	15.0	14.0					9																	139250815		2186	4285	6471	SO:0001583	missense	26086				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity	g.chr9:139250815C>T	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.1634C>T	9.37:g.139250815C>T	ENSP00000392828:p.Ser545Leu					GPSM1_uc011mdu.1_Missense_Mutation_p.S36L|GPSM1_uc004che.2_Missense_Mutation_p.S36L	p.S545L	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)	13	1854	+		Myeloproliferative disorder(178;0.0821)	545					A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Missense_Mutation	SNP	ENST00000440944.1	37	c.1634C>T	CCDS48055.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.894851	0.52121	.	.	ENSG00000160360	ENST00000440944;ENST00000354753;ENST00000429455;ENST00000392944;ENST00000291775	D;D	0.91180	-2.8;-2.79	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.91751	0.7391	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91755	0.5415	10	0.40728	T	0.16	-22.5286	17.5228	0.87792	0.0:1.0:0.0:0.0	.	545	Q86YR5	GPSM1_HUMAN	L	545;522;36;36;36	ENSP00000392828:S545L;ENSP00000346797:S522L	ENSP00000291775:S36L	S	+	2	0	GPSM1	138370636	1.000000	0.71417	0.260000	0.24451	0.079000	0.17450	6.890000	0.75633	2.485000	0.83878	0.462000	0.41574	TCG		0.721	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_015597		9	8	0	0	0	0.004482	0	9	8		
CCDC120	90060	broad.mit.edu	37	X	48925325	48925325	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:48925325G>C	ENST00000376396.3	+	10	1789	c.1570G>C	c.(1570-1572)Gaa>Caa	p.E524Q	CCDC120_ENST00000597275.1_Missense_Mutation_p.E524Q|CCDC120_ENST00000603986.1_Missense_Mutation_p.E559Q|CCDC120_ENST00000496529.2_Missense_Mutation_p.E524Q|CCDC120_ENST00000422185.2_Missense_Mutation_p.E524Q|CCDC120_ENST00000536628.2_Missense_Mutation_p.E512Q	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	524	Pro-rich.									breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						AGAGGCTGCCGAAGGCCCTGA	0.657																																						uc010nik.2		NaN																	0				pancreas(1)	1						c.(1570-1572)GAA>CAA		coiled-coil domain containing 120 isoform 3							10.0	12.0	11.0					X																	48925325		2185	4273	6458	SO:0001583	missense	90060						protein binding	g.chrX:48925325G>C	BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.1570G>C	X.37:g.48925325G>C	ENSP00000365577:p.Glu524Gln					CCDC120_uc011mmq.1_Missense_Mutation_p.E512Q|CCDC120_uc004dmf.2_Missense_Mutation_p.E524Q|CCDC120_uc010nil.2_Missense_Mutation_p.E524Q|CCDC120_uc011mmr.1_Missense_Mutation_p.E524Q|CCDC120_uc011mms.1_Missense_Mutation_p.E512Q	p.E524Q	NM_033626	NP_296375	Q96HB5	CC120_HUMAN			10	2077	+			524			Pro-rich.		B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	ENST00000376396.3	37	c.1570G>C	CCDS14316.1	.	.	.	.	.	.	.	.	.	.	G	9.663	1.144625	0.21288	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	4.83	2.84	0.33178	.	0.134339	0.48767	D	0.000166	T	0.45518	0.1346	N	0.22421	0.69	0.09310	N	1	D;B;B;B	0.63880	0.993;0.294;0.294;0.294	D;B;B;B	0.71656	0.974;0.082;0.082;0.12	T	0.18967	-1.0320	9	0.45353	T	0.12	-23.1796	11.1285	0.48333	0.0:0.3553:0.6447:0.0	.	512;559;512;524	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	Q	524;524;512	.	ENSP00000365577:E524Q	E	+	1	0	CCDC120	48812269	0.599000	0.26891	0.748000	0.31131	0.050000	0.14768	1.649000	0.37281	1.987000	0.57996	0.468000	0.43344	GAA		0.657	CCDC120-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056528.1		NM_033626		4	0	0	0	0	0.009096	0	4	0		
UBQLN2	29978	broad.mit.edu	37	X	56591564	56591564	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:56591564C>G	ENST00000338222.5	+	1	1539	c.1258C>G	c.(1258-1260)Cct>Gct	p.P420A		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	420					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						TACTGCAAATCCTCAGCTGCA	0.542																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	uc004dus.2		NaN																	0				ovary(1)|skin(1)	2						c.(1258-1260)CCT>GCT		ubiquilin 2							42.0	35.0	37.0					X																	56591564		2203	4300	6503	SO:0001583	missense	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56591564C>G	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1258C>G	X.37:g.56591564C>G	ENSP00000345195:p.Pro420Ala					UBQLN2_uc011moq.1_Missense_Mutation_p.P420A	p.P420A	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN			1	1493	+			420					O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	c.1258C>G	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.701252	0.48307	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	D	0.84873	-1.91	4.66	4.66	0.58398	Heat shock chaperonin-binding (1);	0.000000	0.64402	D	0.000001	D	0.93429	0.7904	M	0.92970	3.365	0.58432	D	0.999997	D;D	0.69078	0.997;0.997	D;D	0.69654	0.937;0.965	D	0.94726	0.7905	10	0.72032	D	0.01	-6.7703	14.1795	0.65564	0.0:1.0:0.0:0.0	.	420;420	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	A	420	ENSP00000345195:P420A	ENSP00000345195:P420A	P	+	1	0	UBQLN2	56608289	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.951000	0.49089	2.313000	0.78055	0.594000	0.82650	CCT		0.542	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1		NM_013444		12	5	0	0	0	0.000978	0	12	5		
ZC3H12B	340554	broad.mit.edu	37	X	64722819	64722819	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:64722819G>C	ENST00000338957.4	+	5	2308	c.2241G>C	c.(2239-2241)ttG>ttC	p.L747F	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.L736F	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	747							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTATCCCTTGAGTAACAGCC	0.557																																						uc010nko.2		NaN																	0				lung(1)|kidney(1)|pancreas(1)	3						c.(2206-2208)TTG>TTC		zinc finger CCCH-type containing 12B							73.0	71.0	72.0					X																	64722819		2182	4293	6475	SO:0001583	missense	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64722819G>C	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.2241G>C	X.37:g.64722819G>C	ENSP00000340839:p.Leu747Phe						p.L736F	NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN			5	2217	+			736					B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	c.2208G>C	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491501	0.44249	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.32272	1.46;1.47	5.94	3.07	0.35406	.	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.70275	2.135	0.43141	D	0.99489	D	0.76494	0.999	D	0.85130	0.997	T	0.42361	-0.9456	10	0.62326	D	0.03	-13.967	7.7882	0.29103	0.3027:0.0:0.6973:0.0	.	736	Q5HYM0	ZC12B_HUMAN	F	747;736;683	ENSP00000340839:L747F;ENSP00000408077:L736F	ENSP00000218172:L683F	L	+	3	2	ZC3H12B	64639544	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.406000	0.44557	0.191000	0.20236	0.506000	0.49869	TTG		0.557	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2		XM_293334		16	11	0	0	0	0.003163	0	16	11		
TMEM31	203562	broad.mit.edu	37	X	102968912	102968912	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:102968912C>G	ENST00000319560.6	+	3	684	c.493C>G	c.(493-495)Ctg>Gtg	p.L165V	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	165						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						tgtcttcattctgatcttctt	0.378																																						uc004elh.2		NaN																	0					0						c.(493-495)CTG>GTG		transmembrane protein 31							38.0	21.0	27.0					X																	102968912		2201	4290	6491	SO:0001583	missense	203562					integral to membrane		g.chrX:102968912C>G	BC029575	CCDS35359.1	Xq22.2	2008-02-05			ENSG00000179363	ENSG00000179363			28601	protein-coding gene	gene with protein product						12477932	Standard	NM_182541		Approved	MGC39655	uc004elh.3	Q5JXX7	OTTHUMG00000022109	ENST00000319560.6:c.493C>G	X.37:g.102968912C>G	ENSP00000316940:p.Leu165Val					GLRA4_uc011mse.1_Intron	p.L165V	NM_182541	NP_872347	Q5JXX7	TMM31_HUMAN			3	684	+			165			Helical; (Potential).		Q8NHR4	Missense_Mutation	SNP	ENST00000319560.6	37	c.493C>G	CCDS35359.1	.	.	.	.	.	.	.	.	.	.	C	4.741	0.137749	0.09032	.	.	ENSG00000179363	ENST00000319560	.	.	.	3.76	-4.75	0.03239	.	.	.	.	.	T	0.14570	0.0352	N	0.08118	0	0.09310	N	1	B	0.20550	0.046	B	0.19666	0.026	T	0.20438	-1.0275	8	0.87932	D	0	.	2.0534	0.03575	0.1472:0.1718:0.4344:0.2467	.	165	Q5JXX7	TMM31_HUMAN	V	165	.	ENSP00000316940:L165V	L	+	1	2	TMEM31	102855568	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.101000	0.15251	-1.167000	0.02779	0.506000	0.49869	CTG		0.378	TMEM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057741.1		NM_182541		7	2	0	0	0	0.001984	0	7	2		
STAG2	10735	broad.mit.edu	37	X	123176495	123176495	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:123176495G>A	ENST00000371160.1	+	7	752	c.462G>A	c.(460-462)gaG>gaA	p.E154E	STAG2_ENST00000371157.3_Splice_Site_p.E154E|STAG2_ENST00000218089.9_Splice_Site_p.E154E|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Splice_Site_p.E85E|STAG2_ENST00000371145.3_Splice_Site_p.E154E|STAG2_ENST00000371144.3_Splice_Site_p.E154E	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	154					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AATTCGATGAGGTAACTTACT	0.333																																						uc004etz.3		NaN																	0				ovary(4)|skin(1)	5						c.(460-462)GAG>GAA		stromal antigen 2 isoform b							77.0	72.0	74.0					X																	123176495		2203	4300	6503	SO:0001630	splice_region_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123176495G>A	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.462+1G>A	X.37:g.123176495G>A						STAG2_uc004eua.2_Silent_p.E154E|STAG2_uc004eub.2_Silent_p.E154E|STAG2_uc004euc.2_Silent_p.E154E|STAG2_uc004eud.2_Silent_p.E154E|STAG2_uc004eue.2_Silent_p.E154E	p.E154E	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			6	801	+			154					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Silent	SNP	ENST00000371160.1	37	c.462G>A	CCDS14607.1																																																																																				0.333	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2		NM_006603	Silent	15	5	0	0	0	0.00245	0	15	5		
ENOX2	10495	broad.mit.edu	37	X	129771250	129771250	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:129771250C>G	ENST00000370927.1	-	9	1372	c.1351G>C	c.(1351-1353)Gaa>Caa	p.E451Q	ENOX2_ENST00000394363.1_Missense_Mutation_p.E422Q|ENOX2_ENST00000338144.3_Missense_Mutation_p.E451Q|ENOX2_ENST00000370935.1_Missense_Mutation_p.E422Q			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	451					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						AGCTGCTGTTCTTTGTTAGGG	0.473																																					Ovarian(101;828 1506 2951 9500 35258)	uc004evw.2		NaN																	0				ovary(1)	1						c.(1351-1353)GAA>CAA		ecto-NOX disulfide-thiol exchanger 2 isoform b							384.0	316.0	339.0					X																	129771250		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129771250C>G	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1351G>C	X.37:g.129771250C>G	ENSP00000359965:p.Glu451Gln					ENOX2_uc004evx.2_Missense_Mutation_p.E422Q|ENOX2_uc004evy.2_Missense_Mutation_p.E422Q|ENOX2_uc004evv.2_Missense_Mutation_p.E276Q	p.E451Q	NM_182314	NP_872114	Q16206	ENOX2_HUMAN			12	1769	-			451			Potential.		A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1351G>C	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537272	0.45176	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	T;T	0.29917	1.55;1.55	5.09	5.09	0.68999	.	0.278058	0.36972	N	0.002303	T	0.26085	0.0636	L	0.39147	1.195	0.35537	D	0.802729	B;B	0.16396	0.009;0.017	B;B	0.14023	0.007;0.01	T	0.20306	-1.0279	9	.	.	.	-7.62	14.687	0.69057	0.0:1.0:0.0:0.0	.	451;479	Q16206;A4QPE1	ENOX2_HUMAN;.	Q	422;422;451;422;479;451	ENSP00000337146:E451Q;ENSP00000359965:E451Q	.	E	-	1	0	ENOX2	129598931	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	5.139000	0.64801	2.345000	0.79718	0.600000	0.82982	GAA		0.473	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1		NM_182314		83	44	0	0	0	0.00361	0	83	44		
ENOX2	10495	broad.mit.edu	37	X	129771262	129771262	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:129771262C>A	ENST00000370927.1	-	9	1360	c.1339G>T	c.(1339-1341)Gac>Tac	p.D447Y	ENOX2_ENST00000394363.1_Missense_Mutation_p.D418Y|ENOX2_ENST00000338144.3_Missense_Mutation_p.D447Y|ENOX2_ENST00000370935.1_Missense_Mutation_p.D418Y			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	447					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTGTTAGGGTCATCTTCTCTG	0.473																																					Ovarian(101;828 1506 2951 9500 35258)	uc004evw.2		NaN																	0				ovary(1)	1						c.(1339-1341)GAC>TAC		ecto-NOX disulfide-thiol exchanger 2 isoform b							382.0	310.0	335.0					X																	129771262		2203	4300	6503	SO:0001583	missense	10495				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	g.chrX:129771262C>A	AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"""RNA binding motif (RRM) containing"""	2259	protein-coding gene	gene with protein product		300282	"""cytosolic ovarian carcinoma antigen 1"""	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.1339G>T	X.37:g.129771262C>A	ENSP00000359965:p.Asp447Tyr					ENOX2_uc004evx.2_Missense_Mutation_p.D418Y|ENOX2_uc004evy.2_Missense_Mutation_p.D418Y|ENOX2_uc004evv.2_Missense_Mutation_p.D272Y	p.D447Y	NM_182314	NP_872114	Q16206	ENOX2_HUMAN			12	1757	-			447			Potential.		A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	ENST00000370927.1	37	c.1339G>T	CCDS14626.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585555	0.28268	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927	T;T	0.30448	1.53;1.53	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	L	0.42245	1.32	0.42328	D	0.992281	D;D	0.64830	0.984;0.994	P;P	0.62813	0.847;0.907	T	0.15896	-1.0421	9	.	.	.	-18.6419	8.302	0.32019	0.0:0.8939:0.0:0.1061	.	447;475	Q16206;A4QPE1	ENOX2_HUMAN;.	Y	418;418;447;418;475;447	ENSP00000337146:D447Y;ENSP00000359965:D447Y	.	D	-	1	0	ENOX2	129598943	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	3.344000	0.52174	2.345000	0.79718	0.600000	0.82982	GAC		0.473	ENOX2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058277.1		NM_182314		84	41	1	0	5.00475e-40	0.00361	5.39545e-40	84	41		
SPANXC	64663	broad.mit.edu	37	X	140336533	140336533	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chrX:140336533C>T	ENST00000358993.2	-	1	96	c.58G>A	c.(58-60)Gag>Aag	p.E20K		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	20						cytoplasm (GO:0005737)|nucleus (GO:0005634)				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TCATTCACCTCGTTGGATTCA	0.493																																						uc004fbk.2		NaN																	0					0						c.(58-60)GAG>AAG		sperm protein associated with the nucleus, X							81.0	115.0	103.0					X																	140336533		2173	4253	6426	SO:0001583	missense	64663					cytoplasm|nucleus		g.chrX:140336533C>T	AJ238277	CCDS14673.1	Xq27.2	2009-03-25			ENSG00000198573	ENSG00000198573			14331	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 3"""	300330				10626816	Standard	NM_022661		Approved	CTp11, CT11.3	uc004fbk.3	Q9NY87	OTTHUMG00000022556	ENST00000358993.2:c.58G>A	X.37:g.140336533C>T	ENSP00000351884:p.Glu20Lys					SPANXC_uc004fbl.2_Intron	p.E20K	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN			1	114	-	Acute lymphoblastic leukemia(192;7.65e-05)		20					Q32WL9|Q5JX88	Missense_Mutation	SNP	ENST00000358993.2	37	c.58G>A	CCDS14673.1	.	.	.	.	.	.	.	.	.	.	c	11.95	1.790944	0.31685	.	.	ENSG00000198573	ENST00000358993	T	0.08720	3.06	.	.	.	.	.	.	.	.	T	0.17577	0.0422	M	0.63428	1.95	0.09310	N	1	D	0.76494	0.999	D	0.77004	0.989	T	0.14008	-1.0488	7	0.24483	T	0.36	.	.	.	.	.	20	Q9NY87	SPNXC_HUMAN	K	20	ENSP00000351884:E20K	ENSP00000351884:E20K	E	-	1	0	SPANXC	140164199	0.082000	0.21442	0.000000	0.03702	0.000000	0.00434	-1.577000	0.02127	-0.759000	0.04684	-0.773000	0.03387	GAG		0.493	SPANXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058590.1		NM_022661		52	30	0	0	0	0.00361	0	52	30		
IL22RA1	58985	broad.mit.edu	37	1	24463780	24463780	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr1:24463780delC	ENST00000270800.1	-	3	234	c.196delG	c.(196-198)gtgfs	p.V66fs		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	66	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TTCTTTGCCACCCAGTCCCTC	0.587																																						uc001biq.1		NaN																	0				skin(1)	1						c.(196-198)GTGfs		interleukin 22 receptor, alpha 1 precursor							80.0	73.0	75.0					1																	24463780		2203	4300	6503	SO:0001589	frameshift_variant	58985					integral to membrane	interferon receptor activity	g.chr1:24463780delC	AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.196delG	1.37:g.24463780delC	ENSP00000270800:p.Val66fs					IL22RA1_uc010oeg.1_5'UTR|IL22RA1_uc009vrb.1_5'UTR|IL22RA1_uc010oeh.1_Frame_Shift_Del_p.V66fs	p.V66fs	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)	3	235	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	66			Extracellular (Potential).|Fibronectin type-III 1.		A8K839|B2R9Y9|Q9HB22	Frame_Shift_Del	DEL	ENST00000270800.1	37	c.196delG	CCDS247.1																																																																																				0.587	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1				22	75	NaN	NaN	NaN	NaN	NaN	22	75	---	---
ROBO3	64221	broad.mit.edu	37	11	124750448	124750453	+	In_Frame_Del	DEL	CGGAGT	CGGAGT	-	rs55725290|rs56085444|rs71859853	byFrequency	TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr11:124750448_124750453delCGGAGT	ENST00000397801.1	+	27	4285_4290	c.4093_4098delCGGAGT	c.(4093-4098)cggagtdel	p.RS1367del	ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1367					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGgccggagccggagtcggagtcaga	0.66														2107	0.420727	0.6664	0.2392	5008	,	,		17575	0.378		0.2883	False		,,,				2504	0.3978					uc001qbc.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(4093-4098)CGGAGTdel		roundabout, axon guidance receptor, homolog 3				2069,1609		709,651,479						2.4	1.0		dbSNP_130	17	1833,5925		332,1169,2378	no	coding	ROBO3	NM_022370.3		1041,1820,2857	A1A1,A1R,RR		23.6272,43.7466,34.1203				3902,7534				SO:0001651	inframe_deletion	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124750448_124750453delCGGAGT	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.4093_4098delCGGAGT	11.37:g.124750454_124750459delCGGAGT	ENSP00000380903:p.Arg1367_Ser1368del					ROBO3_uc001qbd.2_In_Frame_Del_p.RS292del|ROBO3_uc010sar.1_In_Frame_Del_p.RS416del|ROBO3_uc001qbe.2_In_Frame_Del_p.RS292del|ROBO3_uc001qbf.1_In_Frame_Del_p.RS251del	p.RS1367del	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	27	4285_4290	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1367_1368			Cytoplasmic (Potential).			In_Frame_Del	DEL	ENST00000397801.1	37	c.4093_4098delCGGAGT	CCDS44755.1																																																																																				0.660	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1		XM_370663		3	5	NaN	NaN	NaN	NaN	NaN	3	5	---	---
CAB39L	81617	broad.mit.edu	37	13	49957036	49957037	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr13:49957036_49957037insT	ENST00000355854.4	-	2	507_508	c.10_11insA	c.(10-12)atgfs	p.M4fs	CAB39L_ENST00000409308.1_Frame_Shift_Ins_p.M4fs|CAB39L_ENST00000410043.1_Frame_Shift_Ins_p.M4fs|CAB39L_ENST00000347776.5_Frame_Shift_Ins_p.M4fs|CAB39L_ENST00000476943.1_5'UTR	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	4					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		AAACAAAGGCATTTTTTTCATG	0.287																																						uc001vcw.2		NaN																	0					0						c.(10-12)ATGfs		calcium binding protein 39-like																																				SO:0001589	frameshift_variant	81617				cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding	g.chr13:49957036_49957037insT	AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.11dupA	13.37:g.49957043_49957043dupT	ENSP00000348113:p.Met4fs					CAB39L_uc001vcx.2_Frame_Shift_Ins_p.M4fs|CAB39L_uc010adf.2_Frame_Shift_Ins_p.M1fs	p.M4fs	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)	2	508_509	-		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	4					Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Frame_Shift_Ins	INS	ENST00000355854.4	37	c.10_11insA	CCDS9416.2																																																																																				0.287	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044908.3		NM_030925		16	63	NaN	NaN	NaN	NaN	NaN	16	63	---	---
FOXA1	3169	broad.mit.edu	37	14	38061263	38061263	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr14:38061263delG	ENST00000250448.2	-	2	787	c.726delC	c.(724-726)tccfs	p.S242fs	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Frame_Shift_Del_p.S209fs	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	242					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GCGTCCAGTAGGAGCCCTTGC	0.647																																						uc001wuf.2		NaN																	0					0						c.(724-726)TCCfs		forkhead box A1							36.0	35.0	35.0					14																	38061263		2203	4300	6503	SO:0001589	frameshift_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061263delG	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.726delC	14.37:g.38061263delG	ENSP00000250448:p.Ser242fs					FOXA1_uc010tpz.1_Frame_Shift_Del_p.S209fs	p.S242fs	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	1038	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		242			Fork-head.		B2R9H6|B7ZAP5|Q9H2A0	Frame_Shift_Del	DEL	ENST00000250448.2	37	c.726delC	CCDS9665.1																																																																																				0.647	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1				46	39	NaN	NaN	NaN	NaN	NaN	46	39	---	---
SPG21	51324	broad.mit.edu	37	15	65275846	65275846	+	Splice_Site	DEL	T	T	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr15:65275846delT	ENST00000204566.2	-	2	357	c.62delA	c.(61-63)aag>ag	p.K21fs	SPG21_ENST00000560564.1_Intron|SPG21_ENST00000559199.1_5'Flank|SPG21_ENST00000433215.2_Splice_Site_p.K21fs|SPG21_ENST00000416889.2_Splice_Site_p.K21fs	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	21					antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CATACATACCTTTTTAAGGGG	0.333																																						uc002aod.2		NaN																	0					0						c.(61-63)AAGfs		spastic paraplegia 21 isoform a							73.0	66.0	69.0					15																	65275846		2194	4291	6485	SO:0001630	splice_region_variant	51324				cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding	g.chr15:65275846delT	AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"""maspardin"""	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.63+1A>-	15.37:g.65275846delT						SPG21_uc002aoe.2_Frame_Shift_Del_p.K21fs|SPG21_uc010bhb.2_Frame_Shift_Del_p.K21fs|SPG21_uc010bhc.2_5'UTR	p.K21fs	NM_001127889	NP_001121361	Q9NZD8	SPG21_HUMAN			2	155	-			21					B4DW44|Q6ZMB6	Frame_Shift_Del	DEL	ENST00000204566.2	37	c.62delA	CCDS10198.1																																																																																				0.333	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256758.3		NM_016630	Frame_Shift_Del	2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
TNRC6A	27327	broad.mit.edu	37	16	24807240	24807240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr16:24807240delA	ENST00000395799.3	+	9	3670	c.3541delA	c.(3541-3543)aaafs	p.K1182fs	TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1182	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTGAGTGGCAAAAAAAGGAG	0.398																																						uc002dmm.2		NaN																	0				ovary(2)	2						c.(3541-3543)AAAfs		trinucleotide repeat containing 6A							243.0	224.0	231.0					16																	24807240		2197	4300	6497	SO:0001589	frameshift_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24807240delA	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3541delA	16.37:g.24807240delA	ENSP00000379144:p.Lys1182fs					TNRC6A_uc010bxs.2_Frame_Shift_Del_p.K928fs|TNRC6A_uc010vcc.1_Frame_Shift_Del_p.K928fs|TNRC6A_uc002dmn.2_Frame_Shift_Del_p.K928fs|TNRC6A_uc002dmo.2_Frame_Shift_Del_p.K869fs	p.K1181fs	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	9	3655	+			1181			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Frame_Shift_Del	DEL	ENST00000395799.3	37	c.3541delA	CCDS10624.2																																																																																				0.398	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1		NM_020847		7	164	NaN	NaN	NaN	NaN	NaN	7	164	---	---
MYOM1	8736	broad.mit.edu	37	18	3164366	3164366	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr18:3164366delG	ENST00000356443.4	-	10	1744	c.1411delC	c.(1411-1413)catfs	p.H471fs	MYOM1_ENST00000400569.3_Frame_Shift_Del_p.H471fs|MYOM1_ENST00000261606.7_Frame_Shift_Del_p.H471fs	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	471	Ig-like C2-type 2.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTGTTGAGATGGGAAAATGTC	0.393																																						uc002klp.2		NaN																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(1411-1413)CATfs		myomesin 1 isoform a							74.0	72.0	73.0					18																	3164366		2037	4202	6239	SO:0001589	frameshift_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3164366delG	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1411delC	18.37:g.3164366delG	ENSP00000348821:p.His471fs					MYOM1_uc002klq.2_Frame_Shift_Del_p.H471fs	p.H471fs	NM_003803	NP_003794	P52179	MYOM1_HUMAN			10	1745	-			471			Ig-like C2-type 2.		Q14BD6|Q6H969|Q6ZUU0	Frame_Shift_Del	DEL	ENST00000356443.4	37	c.1411delC	CCDS45824.1																																																																																				0.393	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2		NM_003803		9	15	NaN	NaN	NaN	NaN	NaN	9	15	---	---
NGEF	25791	broad.mit.edu	37	2	233744322	233744324	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr2:233744322_233744324delCTC	ENST00000264051.3	-	15	2286_2288	c.2008_2010delGAG	c.(2008-2010)gagdel	p.E670del	NGEF_ENST00000373552.4_In_Frame_Del_p.E578del|NGEF_ENST00000539537.1_In_Frame_Del_p.E393del	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	670	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GATTCAAGATCTCCTCAGTCATG	0.581																																						uc002vts.2		NaN																	0				ovary(3)|central_nervous_system(3)|skin(1)	7						c.(2008-2010)GAGdel		neuronal guanine nucleotide exchange factor																																				SO:0001651	inframe_deletion	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233744322_233744324delCTC	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.2008_2010delGAG	2.37:g.233744325_233744327delCTC	ENSP00000264051:p.Glu670del					NGEF_uc010zmm.1_In_Frame_Del_p.E393del|NGEF_uc010fyg.1_In_Frame_Del_p.E578del	p.E670del	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	15	2256_2258	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	670			SH3.		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	In_Frame_Del	DEL	ENST00000264051.3	37	c.2008_2010delGAG	CCDS2500.1																																																																																				0.581	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2		XM_044799		44	106	NaN	NaN	NaN	NaN	NaN	44	106	---	---
CDKN1A	1026	broad.mit.edu	37	6	36652009	36652010	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08			-	GG	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:36652009_36652010insGG	ENST00000405375.1	+	2	366_367	c.131_132insGG	c.(130-135)gaggccfs	p.A45fs	CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.A45fs|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.A45fs|CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.A79fs|CDKN1A_ENST00000478800.1_3'UTR	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	45					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						TGCATCCAGGAGGCCCGTGAGC	0.658																																						uc003omm.3		NaN																	0				ovary(1)|breast(1)	2						c.(130-132)GAGfs		cyclin-dependent kinase inhibitor 1A																																				SO:0001589	frameshift_variant	1026	Multiple_Endocrine_Neoplasia_type_1			cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36652009_36652010insGG	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.132_133dupGG	6.37:g.36652010_36652011dupGG	ENSP00000384849:p.Ala45fs					CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.E78fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.E44fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.E44fs	p.E44fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN			2	253_254	+			44					Q14010|Q6FI05|Q9BUT4	Frame_Shift_Ins	INS	ENST00000405375.1	37	c.131_132insGG	CCDS4824.1																																																																																				0.658	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1		NM_078467		17	40	NaN	NaN	NaN	NaN	NaN	17	40	---	---
UNC5CL	222643	broad.mit.edu	37	6	40996310	40996316	+	Frame_Shift_Del	DEL	GGGGCTG	GGGGCTG	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr6:40996310_40996316delGGGGCTG	ENST00000373164.1	-	8	1413_1419	c.1353_1359delCAGCCCC	c.(1351-1359)cgcagccccfs	p.RSP451fs	UNC5CL_ENST00000244565.3_Frame_Shift_Del_p.RSP451fs|UNC5CL_ENST00000470102.1_5'UTR			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	451	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGCCGCTGCGGGGCTGCGCTGGCAGG	0.671																																						uc003opi.2		NaN																	0				ovary(2)	2						c.(1351-1359)CGCAGCCCCfs		unc-5 homolog C-like																																				SO:0001589	frameshift_variant	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:40996310_40996316delGGGGCTG	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1353_1359delCAGCCCC	6.37:g.40996310_40996316delGGGGCTG	ENSP00000362258:p.Arg451fs						p.R451fs	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN			9	1442_1448	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		451_453			Death.|Cytoplasmic (Potential).		Q5TGU1	Frame_Shift_Del	DEL	ENST00000373164.1	37	c.1353_1359delCAGCCCC	CCDS4847.1																																																																																				0.671	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1		NM_173561		12	66	NaN	NaN	NaN	NaN	NaN	12	66	---	---
KMT2C	58508	broad.mit.edu	37	7	151845284	151845288	+	Frame_Shift_Del	DEL	GAAGA	GAAGA	-			TCGA-FD-A3SM-01A-11D-A22Z-08	TCGA-FD-A3SM-10A-01D-A22Z-08			GAAGA	-	GAAGA	GAAGA		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	357a748c-0c33-4408-b31f-dc7f0375031d	6f6c0555-16e2-4b99-8f40-07197d272e0b	g.chr7:151845284_151845288delGAAGA	ENST00000262189.6	-	52	13942_13946	c.13724_13728delTCTTC	c.(13723-13728)ctcttcfs	p.LF4575fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.LF4632fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4575	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.				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)										AGCCCACAGGGAAGAGTGCTTTAGG	0.566																																						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.(13723-13728)CTCTTCfs		myeloid/lymphoid or mixed-lineage leukemia 3																																				SO:0001589	frameshift_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151845284_151845288delGAAGA	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.13724_13728delTCTTC	7.37:g.151845284_151845288delGAAGA	ENSP00000262189:p.Leu4575fs					MLL3_uc003wkz.2_Frame_Shift_Del_p.L3693fs|MLL3_uc003wkx.2_Frame_Shift_Del_p.L733fs|MLL3_uc003wky.2_Frame_Shift_Del_p.L2139fs	p.L4575fs	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)	52	13943_13947	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	4575_4576			FYR N-terminal.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.13724_13728delTCTTC	CCDS5931.1																																																																																				0.566	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				16	41	NaN	NaN	NaN	NaN	NaN	16	41	---	---
