#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
HES4	57801	broad.mit.edu	37	1	934921	934921	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:934921G>A	ENST00000304952.6	-	3	414	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C	RP11-54O7.17_ENST00000606034.1_lincRNA|HES4_ENST00000484667.2_Missense_Mutation_p.R61C|HES4_ENST00000428771.2_Missense_Mutation_p.R119C			Q9HCC6	HES4_HUMAN	hes family bHLH transcription factor 4	93					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			lung(2)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCTGCACGCGACGCAGGCTC	0.736																																						uc001aci.2		NaN																	0					0						c.(277-279)CGC>TGC		hairy and enhancer of split 4 isoform 2							9.0	11.0	10.0					1																	934921		2112	4211	6323	SO:0001583	missense	57801				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:934921G>A	BC012351	CCDS5.1, CCDS44034.1	1p36	2013-10-17	2013-10-17		ENSG00000188290	ENSG00000188290		"""Basic helix-loop-helix proteins"""	24149	protein-coding gene	gene with protein product		608060	"""hairy and enhancer of split 4 (Drosophila)"""			11260262, 15254753	Standard	NM_021170		Approved	bHLHb42	uc001aci.2	Q9HCC6	OTTHUMG00000040758	ENST00000304952.6:c.277C>T	1.37:g.934921G>A	ENSP00000304595:p.Arg93Cys					HES4_uc010nyc.1_Missense_Mutation_p.R119C	p.R93C	NM_021170	NP_066993	Q9HCC6	HES4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	3	476	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	93					Q5SVA5	Missense_Mutation	SNP	ENST00000304952.6	37	c.277C>T	CCDS5.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.439033	0.43326	.	.	ENSG00000188290	ENST00000428771;ENST00000304952;ENST00000484667	D;D;T	0.97752	-4.52;-4.52;1.33	3.29	0.97	0.19692	Helix-loop-helix DNA-binding (3);	0.000000	0.28393	U	0.015506	D	0.98346	0.9451	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.917;0.996	D	0.97380	0.9982	10	0.87932	D	0	.	6.4384	0.21837	0.0:0.1475:0.5827:0.2698	.	119;93	E9PB28;Q9HCC6	.;HES4_HUMAN	C	119;93;61	ENSP00000393198:R119C;ENSP00000304595:R93C;ENSP00000425085:R61C	ENSP00000304595:R93C	R	-	1	0	HES4	924784	0.999000	0.42202	0.052000	0.19188	0.882000	0.50991	2.974000	0.49272	0.545000	0.28902	0.407000	0.27541	CGC		0.736	HES4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097944.1		NM_021170		3	10	0	0	0	0.004672	0	3	10		
SPEN	23013	broad.mit.edu	37	1	16261448	16261448	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:16261448G>A	ENST00000375759.3	+	11	8917	c.8713G>A	c.(8713-8715)Gat>Aat	p.D2905N		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2905					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGTGAAGGCCGATAGGCCATC	0.577																																						uc001axk.1		NaN																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(8713-8715)GAT>AAT		spen homolog, transcriptional regulator							85.0	70.0	75.0					1																	16261448		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16261448G>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8713G>A	1.37:g.16261448G>A	ENSP00000364912:p.Asp2905Asn					SPEN_uc010obp.1_Missense_Mutation_p.D2864N	p.D2905N	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	8917	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2905					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.8713G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427907	0.62733	.	.	ENSG00000065526	ENST00000375759	T	0.09817	2.94	5.48	5.48	0.80851	.	.	.	.	.	T	0.22975	0.0555	L	0.44542	1.39	0.47698	D	0.999495	D	0.76494	0.999	P	0.56563	0.801	T	0.00165	-1.1967	9	0.56958	D	0.05	-22.6552	19.3535	0.94401	0.0:0.0:1.0:0.0	.	2905	Q96T58	MINT_HUMAN	N	2905	ENSP00000364912:D2905N	ENSP00000364912:D2905N	D	+	1	0	SPEN	16134035	1.000000	0.71417	0.511000	0.27724	0.726000	0.41606	9.372000	0.97165	2.562000	0.86427	0.561000	0.74099	GAT		0.577	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		NM_015001		18	19	0	0	0	0.014323	0	18	19		
EMC1	23065	broad.mit.edu	37	1	19557916	19557916	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:19557916C>G	ENST00000477853.1	-	16	1825	c.1783G>C	c.(1783-1785)Gag>Cag	p.E595Q	EMC1_ENST00000375199.3_Splice_Site_p.E594Q|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Splice_Site_p.E573Q	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	595						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											ATTCCCGACTCCTAAAATGAG	0.507																																						uc001bbo.2		NaN																	0				ovary(1)	1						c.(1783-1785)GAG>CAG		hypothetical protein LOC23065 precursor							35.0	36.0	36.0					1																	19557916		2203	4300	6503	SO:0001630	splice_region_variant	23065					integral to membrane	protein binding	g.chr1:19557916C>G		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1783-1G>C	1.37:g.19557916C>G						KIAA0090_uc001bbp.2_Missense_Mutation_p.E594Q|KIAA0090_uc001bbq.2_Missense_Mutation_p.E594Q|KIAA0090_uc001bbr.2_Missense_Mutation_p.E573Q	p.E595Q	NM_015047	NP_055862	Q8N766	K0090_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)	16	1826	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)	595			Extracellular (Potential).		A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	c.1783G>C	CCDS190.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.69|12.69	2.013276|2.013276	0.35511|0.35511	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208|ENST00000375197	T;T;T|.	0.23147|.	1.93;1.92;1.92|.	4.87|4.87	3.93|3.93	0.45458|0.45458	.|.	0.206547|.	0.49916|.	D|.	0.000133|.	T|T	0.54127|0.54127	0.1839|0.1839	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.27416|.	0.004;0.004;0.178;0.112|.	B;B;B;B|.	0.28139|.	0.043;0.033;0.086;0.039|.	T|T	0.48592|0.48592	-0.9022|-0.9022	10|5	0.25751|.	T|.	0.34|.	.|.	11.0675|11.0675	0.47985|0.47985	0.0:0.9066:0.0:0.0934|0.0:0.9066:0.0:0.0934	.|.	573;594;594;595|.	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766|.	.;.;.;K0090_HUMAN|.	Q|A	595;594;573|328	ENSP00000420608:E595Q;ENSP00000364345:E594Q;ENSP00000364354:E573Q|.	ENSP00000364345:E594Q|.	E|G	-|-	1|2	0|0	KIAA0090|KIAA0090	19430503|19430503	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.726000|0.726000	0.41606|0.41606	4.437000|4.437000	0.59955|0.59955	2.408000|2.408000	0.81797|0.81797	0.462000|0.462000	0.41574|0.41574	GAG|GGA		0.507	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2		NM_015047	Missense_Mutation	5	13	0	0	0	0.001168	0	5	13		
TMEM50A	23585	broad.mit.edu	37	1	25678151	25678151	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:25678151G>T	ENST00000374358.4	+	4	794	c.241G>T	c.(241-243)Gat>Tat	p.D81Y	TMEM50A_ENST00000480937.1_3'UTR	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	81						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		AGTCCGAGGTGATAGTTACAG	0.358																																						uc001bke.2		NaN																	0					0						c.(241-243)GAT>TAT		small membrane protein 1							176.0	164.0	168.0					1																	25678151		2203	4300	6503	SO:0001583	missense	23585					endoplasmic reticulum|integral to membrane		g.chr1:25678151G>T	AY071927	CCDS264.1	1p36.11	2008-02-05			ENSG00000183726	ENSG00000183726			30590	protein-coding gene	gene with protein product	"""small membrane protein 1"""	605348				10938938, 10845894	Standard	NM_014313		Approved	SMP1	uc001bke.3	O95807	OTTHUMG00000007651	ENST00000374358.4:c.241G>T	1.37:g.25678151G>T	ENSP00000363478:p.Asp81Tyr					TMEM50A_uc010oeq.1_Missense_Mutation_p.D81Y|TMEM50A_uc009vrr.2_RNA|TMEM50A_uc009vrs.2_RNA	p.D81Y	NM_014313	NP_055128	O95807	TM50A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)	4	391	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	81						Missense_Mutation	SNP	ENST00000374358.4	37	c.241G>T	CCDS264.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606483	0.87157	.	.	ENSG00000183726	ENST00000374358	T	0.35048	1.33	5.64	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	M	0.83012	2.62	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.70487	0.965;0.969	T	0.66779	-0.5837	10	0.59425	D	0.04	.	13.2834	0.60228	0.0766:0.0:0.9234:0.0	.	81;81	B7Z5M7;O95807	.;TM50A_HUMAN	Y	81	ENSP00000363478:D81Y	ENSP00000363478:D81Y	D	+	1	0	TMEM50A	25550738	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	8.873000	0.92357	1.397000	0.46682	0.645000	0.84053	GAT		0.358	TMEM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020313.1				44	46	1	0	1.20466e-24	0.01441	1.30241e-24	44	46		
PTAFR	5724	broad.mit.edu	37	1	28476921	28476921	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:28476921G>T	ENST00000373857.3	-	2	1246	c.612C>A	c.(610-612)ttC>ttA	p.F204L	PTAFR_ENST00000539896.1_Missense_Mutation_p.F204L|PTAFR_ENST00000305392.3_Missense_Mutation_p.F204L	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	204					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGTTGCAGAAGAGGATGA	0.567																																						uc001bpl.2		NaN																	0					0						c.(610-612)TTC>TTA		platelet-activating factor receptor							117.0	87.0	98.0					1																	28476921		2203	4300	6503	SO:0001583	missense	5724				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	g.chr1:28476921G>T	BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"""GPCR / Class A : Platelet-activating factor receptors"""	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.612C>A	1.37:g.28476921G>T	ENSP00000362965:p.Phe204Leu					PTAFR_uc001bpm.3_Missense_Mutation_p.F204L|PTAFR_uc009vte.2_Missense_Mutation_p.F204L	p.F204L	NM_000952	NP_000943	P25105	PTAFR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)	2	739	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	204			Helical; Name=5; (Potential).		A3KMC8|A8K2H5	Missense_Mutation	SNP	ENST00000373857.3	37	c.612C>A	CCDS318.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480030	0.26598	.	.	ENSG00000169403	ENST00000373857;ENST00000539896;ENST00000305392	T;T;T	0.37584	1.19;1.19;1.19	5.38	-0.37	0.12530	GPCR, rhodopsin-like superfamily (1);	0.767899	0.12837	N	0.435149	T	0.23688	0.0573	L	0.43152	1.355	0.27982	N	0.936005	B	0.06786	0.001	B	0.15052	0.012	T	0.33599	-0.9862	10	0.11182	T	0.66	.	6.5353	0.22350	0.2815:0.3136:0.4049:0.0	.	204	P25105	PTAFR_HUMAN	L	204	ENSP00000362965:F204L;ENSP00000442658:F204L;ENSP00000301974:F204L	ENSP00000301974:F204L	F	-	3	2	PTAFR	28349508	0.023000	0.18921	0.982000	0.44146	0.996000	0.88848	-0.265000	0.08644	-0.032000	0.13758	0.563000	0.77884	TTC		0.567	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011258.1		NM_000952		15	13	1	0	2.32078e-09	0.003163	2.42404e-09	15	13		
PTAFR	5724	broad.mit.edu	37	1	28477482	28477482	+	Silent	SNP	G	G	C	rs143590918		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:28477482G>C	ENST00000373857.3	-	2	685	c.51C>G	c.(49-51)ctC>ctG	p.L17L	PTAFR_ENST00000539896.1_Silent_p.L17L|PTAFR_ENST00000305392.3_Silent_p.L17L	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	17					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CAATCGGGAAGAGAGTGTATC	0.527																																						uc001bpl.2		NaN																	0					0						c.(49-51)CTC>CTG		platelet-activating factor receptor							81.0	72.0	75.0					1																	28477482		2203	4300	6503	SO:0001819	synonymous_variant	5724				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	g.chr1:28477482G>C	BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"""GPCR / Class A : Platelet-activating factor receptors"""	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.51C>G	1.37:g.28477482G>C						PTAFR_uc001bpm.3_Silent_p.L17L|PTAFR_uc009vte.2_Silent_p.L17L	p.L17L	NM_000952	NP_000943	P25105	PTAFR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)	2	178	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	17			Helical; Name=1; (Potential).		A3KMC8|A8K2H5	Silent	SNP	ENST00000373857.3	37	c.51C>G	CCDS318.1																																																																																				0.527	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011258.1		NM_000952		30	29	0	0	0	0.007835	0	30	29		
ZMYM4	9202	broad.mit.edu	37	1	35851047	35851047	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:35851047C>G	ENST00000314607.6	+	10	1654	c.1574C>G	c.(1573-1575)tCa>tGa	p.S525*	ZMYM4_ENST00000373297.2_Intron	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	525					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TAATAGAAATCAGCCAAAATT	0.318																																						uc001byt.2		NaN																	0				large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1573-1575)TCA>TGA		zinc finger protein 262							73.0	77.0	76.0					1																	35851047		2203	4300	6503	SO:0001587	stop_gained	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35851047C>G	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1574C>G	1.37:g.35851047C>G	ENSP00000322915:p.Ser525*					ZMYM4_uc009vuu.2_Nonsense_Mutation_p.S493*|ZMYM4_uc001byu.2_Nonsense_Mutation_p.S201*|ZMYM4_uc009vuv.2_Nonsense_Mutation_p.S264*	p.S525*	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN			10	1654	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	525			MYM-type 4.		A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Nonsense_Mutation	SNP	ENST00000314607.6	37	c.1574C>G	CCDS389.1	.	.	.	.	.	.	.	.	.	.	C	37	6.605245	0.97701	.	.	ENSG00000146463	ENST00000314607	.	.	.	5.11	5.11	0.69529	.	0.398917	0.25747	N	0.028562	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-8.4174	18.8892	0.92391	0.0:1.0:0.0:0.0	.	.	.	.	X	525	.	ENSP00000322915:S525X	S	+	2	0	ZMYM4	35623634	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.304000	0.65744	2.532000	0.85374	0.543000	0.68304	TCA		0.318	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3		NM_005095		29	50	0	0	0	0.009718	0	29	50		
EVA1B	55194	broad.mit.edu	37	1	36788636	36788636	+	Start_Codon_SNP	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:36788636C>T	ENST00000270824.1	-	2	294	c.3G>A	c.(1-3)atG>atA	p.M1I	EVA1B_ENST00000490466.1_5'UTR|SH3D21_ENST00000474766.1_Intron|RP11-268J15.5_ENST00000373137.2_5'Flank	NM_018166.1	NP_060636.1	Q9NVM1	EVA1B_HUMAN	eva-1 homolog B (C. elegans)	1						integral component of membrane (GO:0016021)											GCGGGGCATCCATGCTGCTCT	0.687																																						uc001cai.1		NaN																	0				pancreas(1)	1						c.(1-3)ATG>ATA		hypothetical protein LOC55194							33.0	36.0	35.0					1																	36788636		2203	4300	6503	SO:0001582	initiator_codon_variant	55194					integral to membrane		g.chr1:36788636C>T	AK001509	CCDS406.1	1p34.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000142694	ENSG00000142694			25558	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 78"", ""family with sequence similarity 176, member B"""	C1orf78, FAM176B		14702039	Standard	XM_005270998		Approved	FLJ10647	uc001caj.1	Q9NVM1	OTTHUMG00000007867	ENST00000270824.1:c.3G>A	1.37:g.36788636C>T	ENSP00000270824:p.Met1Ile					C1orf113_uc010oic.1_Intron|FAM176B_uc001caj.1_Missense_Mutation_p.M1I	p.M1I	NM_018166	NP_060636	Q9NVM1	F176B_HUMAN			1	214	-			1					D3DPS7	Missense_Mutation	SNP	ENST00000270824.1	37	c.3G>A	CCDS406.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641945	0.67244	.	.	ENSG00000142694	ENST00000270824	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	T	0.53722	0.1814	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.53092	-0.8487	7	0.48119	T	0.1	-19.4375	13.9482	0.64099	0.0:1.0:0.0:0.0	.	1	Q9NVM1	F176B_HUMAN	I	1	.	ENSP00000270824:M1I	M	-	3	0	FAM176B	36561223	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.580000	0.67464	2.052000	0.61016	0.462000	0.41574	ATG		0.687	EVA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021689.1		NM_018166	Missense_Mutation	37	44	0	0	0	0.013114	0	37	44		
HIVEP3	59269	broad.mit.edu	37	1	42041338	42041338	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:42041338G>A	ENST00000372583.1	-	5	5969	c.5084C>T	c.(5083-5085)tCc>tTc	p.S1695F	HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1695F|HIVEP3_ENST00000372584.1_Missense_Mutation_p.S1695F|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1695F	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1695					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S1695F(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCCTTCCGGGGAAACCAGTGA	0.542																																						uc001cgz.3		NaN																	1	Substitution - Missense(1)		NS(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(5083-5085)TCC>TTC		human immunodeficiency virus type I enhancer							79.0	78.0	78.0					1																	42041338		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42041338G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5084C>T	1.37:g.42041338G>A	ENSP00000361664:p.Ser1695Phe					HIVEP3_uc001cha.3_Missense_Mutation_p.S1695F|HIVEP3_uc001cgy.2_RNA	p.S1695F	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			5	6297	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1695					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.5084C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840399	0.71488	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.07216	3.22;3.21;3.21;3.22	5.12	5.12	0.69794	.	0.000000	0.52532	D	0.000073	T	0.09291	0.0229	L	0.34521	1.04	0.42021	D	0.990986	P;P	0.49090	0.919;0.868	P;B	0.46208	0.507;0.31	T	0.35226	-0.9797	10	0.16420	T	0.52	3.8871	14.0307	0.64613	0.0:0.1511:0.8489:0.0	.	1695;1695	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	F	1695	ENSP00000361665:S1695F;ENSP00000361664:S1695F;ENSP00000247584:S1695F;ENSP00000410828:S1695F	ENSP00000247584:S1695F	S	-	2	0	HIVEP3	41813925	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.679000	0.46909	2.677000	0.91161	0.561000	0.74099	TCC		0.542	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1		NM_024503		39	37	0	0	0	0.013114	0	39	37		
NASP	4678	broad.mit.edu	37	1	46083736	46083736	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:46083736G>A	ENST00000350030.3	+	15	2377	c.2290G>A	c.(2290-2292)Gag>Aag	p.E764K	CCDC17_ENST00000464739.1_5'Flank|NASP_ENST00000351223.3_Missense_Mutation_p.E425K|NASP_ENST00000537798.1_Missense_Mutation_p.E700K|NASP_ENST00000372052.4_Missense_Mutation_p.E398K|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000402363.3_Missense_Mutation_p.E766K	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	764					blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					CTTCCAGGCTGAGAATCAGGC	0.517																																						uc001coi.1		NaN																	0				ovary(1)	1						c.(2290-2292)GAG>AAG		nuclear autoantigenic sperm protein isoform 2							41.0	38.0	39.0					1																	46083736		2203	4300	6503	SO:0001583	missense	4678				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	g.chr1:46083736G>A	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.2290G>A	1.37:g.46083736G>A	ENSP00000255120:p.Glu764Lys					NASP_uc001coh.1_Missense_Mutation_p.E766K|NASP_uc001coj.1_Missense_Mutation_p.E425K|NASP_uc010olr.1_Missense_Mutation_p.E700K|NASP_uc001col.1_Missense_Mutation_p.E272K	p.E764K	NM_002482	NP_002473	P49321	NASP_HUMAN			15	2392	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		764			Potential.		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	c.2290G>A	CCDS524.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644631	0.67358	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000372052;ENST00000351223	T;T;T;T;T	0.53423	0.71;0.62;0.64;0.83;0.83	4.53	3.62	0.41486	.	0.286995	0.37761	N	0.001951	T	0.57902	0.2085	L	0.44542	1.39	0.41804	D	0.989939	D;P;D;D	0.71674	0.996;0.956;0.993;0.998	D;P;D;D	0.78314	0.987;0.899;0.971;0.991	T	0.61093	-0.7132	10	0.87932	D	0	-3.2819	10.8978	0.47034	0.0891:0.0:0.9109:0.0	.	700;425;764;766	F5H3J2;Q5T626;P49321;P49321-3	.;.;NASP_HUMAN;.	K	700;766;664;764;398;425	ENSP00000438871:E700K;ENSP00000384529:E766K;ENSP00000255120:E764K;ENSP00000361122:E398K;ENSP00000255121:E425K	ENSP00000345532:E664K	E	+	1	0	NASP	45856323	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	1.778000	0.38614	1.266000	0.44231	-0.251000	0.11542	GAG		0.517	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2		NM_002482		5	7	0	0	0	0.00308	0	5	7		
RNF11	26994	broad.mit.edu	37	1	51736896	51736896	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:51736896C>T	ENST00000242719.3	+	3	853	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L	RNF11_ENST00000494873.1_3'UTR	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	123					protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		large_intestine(1)	1						CATCTATCACCTGGACTGTAT	0.473																																						uc001csi.3		NaN																	2	Whole gene deletion(2)		thyroid(1)|central_nervous_system(1)		0						c.(367-369)CTG>TTG		ring finger protein 11							238.0	197.0	211.0					1																	51736896		2203	4300	6503	SO:0001819	synonymous_variant	26994				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding	g.chr1:51736896C>T	AB024703	CCDS556.1	1p32	2013-01-09			ENSG00000123091	ENSG00000123091		"""RING-type (C3HC4) zinc fingers"""	10056	protein-coding gene	gene with protein product		612598				10673045, 10810093	Standard	NM_014372		Approved	CGI-123, Sid1669p, MGC51169	uc001csi.4	Q9Y3C5	OTTHUMG00000008190	ENST00000242719.3:c.367C>T	1.37:g.51736896C>T							p.L123L	NM_014372	NP_055187	Q9Y3C5	RNF11_HUMAN			3	851	+			123			RING-type.		A8KAI2|Q5T7R8	Silent	SNP	ENST00000242719.3	37	c.367C>T	CCDS556.1																																																																																				0.473	RNF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022419.1		NM_014372		27	168	0	0	0	0.013726	0	27	168		
ACOT11	26027	broad.mit.edu	37	1	55058277	55058277	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:55058277G>C	ENST00000371316.3	+	4	452	c.370G>C	c.(370-372)Gag>Cag	p.E124Q	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.E124Q	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	124	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CTCCAGCATGGAGGTGTGTGG	0.597																																					Ovarian(148;1440 1861 22015 32453 51933)	uc001cxm.1		NaN																	0				central_nervous_system(1)	1						c.(370-372)GAG>CAG		thioesterase, adipose associated isoform BFIT1							96.0	82.0	87.0					1																	55058277		2203	4300	6503	SO:0001583	missense	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55058277G>C	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.370G>C	1.37:g.55058277G>C	ENSP00000360366:p.Glu124Gln					ACOT11_uc001cxj.1_Missense_Mutation_p.E2Q|ACOT11_uc001cxk.2_Missense_Mutation_p.E90Q|ACOT11_uc001cxl.1_Missense_Mutation_p.E124Q	p.E124Q	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN			4	452	+			124			Acyl coenzyme A hydrolase 1.		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	c.370G>C	CCDS592.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876345	0.91664	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.22945	1.93;1.93	4.3	4.3	0.51218	Thioesterase superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63260	0.2496	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76974	-0.2760	10	0.87932	D	0	-21.3504	17.1448	0.86763	0.0:0.0:1.0:0.0	.	124;124	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	Q	124	ENSP00000340260:E124Q;ENSP00000360366:E124Q	ENSP00000340260:E124Q	E	+	1	0	ACOT11	54830865	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.473000	0.97714	2.121000	0.65114	0.561000	0.74099	GAG		0.597	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1		NM_015547		35	49	0	0	0	0.006999	0	35	49		
FGGY	55277	broad.mit.edu	37	1	60139745	60139745	+	Silent	SNP	C	C	G	rs114601020	byFrequency	TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:60139745C>G	ENST00000303721.7	+	14	1626	c.1452C>G	c.(1450-1452)tcC>tcG	p.S484S	FGGY_ENST00000371212.1_Silent_p.S396S|FGGY_ENST00000371218.4_Silent_p.S508S|FGGY_ENST00000371210.1_Silent_p.S185S	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	484					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					AGGTGGAGTCCGTTCTTGTGG	0.612																																						uc001czi.3		NaN																	0				ovary(1)	1						c.(1450-1452)TCC>TCG		FGGY carbohydrate kinase domain containing							226.0	142.0	171.0					1																	60139745		2203	4300	6503	SO:0001819	synonymous_variant	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:60139745C>G		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.1452C>G	1.37:g.60139745C>G						FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Silent_p.S508S|FGGY_uc001czj.3_Silent_p.S483S|FGGY_uc001czk.3_Silent_p.S372S|FGGY_uc001czl.3_Silent_p.S396S|FGGY_uc001czm.3_Silent_p.S185S	p.S484S	NM_018291	NP_060761	Q96C11	FGGY_HUMAN			14	1664	+	all_cancers(7;7.36e-05)		484					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Silent	SNP	ENST00000303721.7	37	c.1452C>G	CCDS611.2																																																																																				0.612	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2		NM_001113411		15	28	0	0	0	0.010504	0	15	28		
ERICH3	127254	broad.mit.edu	37	1	75037663	75037663	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:75037663G>T	ENST00000326665.5	-	14	3949	c.3731C>A	c.(3730-3732)gCa>gAa	p.A1244E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1244	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATCTTTGGCTGCTAGCTCCTC	0.617																																						uc001dgg.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(3730-3732)GCA>GAA		hypothetical protein LOC127254							80.0	73.0	76.0					1																	75037663		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037663G>T																												ENST00000326665.5:c.3731C>A	1.37:g.75037663G>T	ENSP00000322609:p.Ala1244Glu						p.A1244E	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	3950	-			1244			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3731C>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715450	0.48622	.	.	ENSG00000178965	ENST00000326665	T	0.18016	2.24	4.78	1.73	0.24493	.	.	.	.	.	T	0.03348	0.0097	L	0.40543	1.245	0.09310	N	1	B	0.27882	0.192	B	0.23018	0.043	T	0.44832	-0.9302	9	0.15066	T	0.55	-1.7773	5.4122	0.16354	0.2395:0.0:0.6081:0.1524	.	1244	Q5RHP9	CA173_HUMAN	E	1244	ENSP00000322609:A1244E	ENSP00000322609:A1244E	A	-	2	0	C1orf173	74810251	0.010000	0.17322	0.001000	0.08648	0.001000	0.01503	0.702000	0.25631	0.402000	0.25451	-0.397000	0.06425	GCA		0.617	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1				15	40	1	0	1.01871e-10	0.008871	1.0663e-10	15	40		
HFM1	164045	broad.mit.edu	37	1	91778938	91778938	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:91778938G>A	ENST00000370425.3	-	30	3457	c.3359C>T	c.(3358-3360)tCa>tTa	p.S1120L	HFM1_ENST00000370424.3_Missense_Mutation_p.S799L|HFM1_ENST00000294696.5_Missense_Mutation_p.S352L|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1120					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.S1120L(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AGATATGTCTGAATGTTTAGA	0.328																																						uc001doa.3		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(3358-3360)TCA>TTA		HFM1 protein							123.0	122.0	123.0					1																	91778938		2202	4297	6499	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91778938G>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3359C>T	1.37:g.91778938G>A	ENSP00000359454:p.Ser1120Leu					HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.S799L|HFM1_uc001dob.3_Missense_Mutation_p.S308L|HFM1_uc010osv.1_Missense_Mutation_p.S804L	p.S1120L	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	30	3459	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1120					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.3359C>T	CCDS30769.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.296|6.296	0.422651|0.422651	0.11928|0.11928	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000430465|ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	.|T;T;T	.|0.64803	.|0.27;0.56;-0.12	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.554102	.|0.16443	.|N	.|0.214235	.|T	.|0.39279	.|0.1072	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.33318	.|0.408;0.19;0.363	.|B;B;B	.|0.34489	.|0.184;0.055;0.075	.|T	.|0.37957	.|-0.9683	.|10	.|0.45353	.|T	.|0.12	.|.	4.636|4.636	0.12525|0.12525	0.0819:0.152:0.6084:0.1577|0.0819:0.152:0.6084:0.1577	.|.	.|799;331;1120	.|A6NGI5;B1B0B5;A2PYH4	.|.;.;HFM1_HUMAN	X|L	332|1120;352;799;804	.|ENSP00000359454:S1120L;ENSP00000294696:S352L;ENSP00000359453:S799L	.|ENSP00000294696:S352L	Q|S	-|-	1|2	0|0	HFM1|HFM1	91551526|91551526	0.000000|0.000000	0.05858|0.05858	0.027000|0.027000	0.17364|0.17364	0.085000|0.085000	0.17905|0.17905	0.775000|0.775000	0.26689|0.26689	2.479000|2.479000	0.83701|0.83701	0.591000|0.591000	0.81541|0.81541	CAG|TCA		0.328	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2		NM_001017975		4	74	0	0	0	0.001168	0	4	74		
FNDC7	163479	broad.mit.edu	37	1	109271379	109271379	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:109271379C>T	ENST00000370017.3	+	8	1772	c.1495C>T	c.(1495-1497)Cag>Tag	p.Q499*	FNDC7_ENST00000271311.2_Nonsense_Mutation_p.Q500*	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	499	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		AGGACTGTATCAGTGCAGCAG	0.542																																						uc001dvx.2		NaN																	0				ovary(1)|skin(1)	2						c.(1495-1497)CAG>TAG		fibronectin type III domain containing 7							101.0	85.0	91.0					1																	109271379		2203	4300	6503	SO:0001587	stop_gained	163479					extracellular region		g.chr1:109271379C>T		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1495C>T	1.37:g.109271379C>T	ENSP00000359034:p.Gln499*					FNDC7_uc010ova.1_Nonsense_Mutation_p.Q266*	p.Q499*	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	8	1495	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	500			Fibronectin type-III 6.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Nonsense_Mutation	SNP	ENST00000370017.3	37	c.1495C>T	CCDS44185.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.48|15.48	2.845852|2.845852	0.51164|0.51164	.|.	.|.	ENSG00000143107|ENSG00000143107	ENST00000370017;ENST00000271311|ENST00000445274	.|.	.|.	.|.	5.91|5.91	1.73|1.73	0.24493|0.24493	.|.	0.865252|.	0.10718|.	N|.	0.642087|.	.|T	.|0.24586	.|0.0596	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.08249	.|-1.0731	.|3	0.06099|.	T|.	0.92|.	1.5048|1.5048	7.7299|7.7299	0.28781|0.28781	0.0:0.4786:0.3781:0.1433|0.0:0.4786:0.3781:0.1433	.|.	.|.	.|.	.|.	X|L	499;500|274	.|.	ENSP00000271311:Q500X|.	Q|S	+|+	1|2	0|0	FNDC7|FNDC7	109072902|109072902	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.279000|0.279000	0.26890|0.26890	0.374000|0.374000	0.20501|0.20501	0.060000|0.060000	0.16281|0.16281	0.555000|0.555000	0.69702|0.69702	CAG|TCA		0.542	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4		NM_173532		30	40	0	0	0	0.005524	0	30	40		
IGSF3	3321	broad.mit.edu	37	1	117150798	117150798	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:117150798G>A	ENST00000369486.3	-	5	1753	c.988C>T	c.(988-990)Cct>Tct	p.P330S	IGSF3_ENST00000318837.6_Missense_Mutation_p.P330S|IGSF3_ENST00000369483.1_Missense_Mutation_p.P330S	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	330	Ig-like C2-type 3.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ACAGCGTTAGGACCCATGGTG	0.562																																						uc001egr.1		NaN																	0				ovary(2)	2						c.(988-990)CCT>TCT		immunoglobulin superfamily, member 3 isoform 2							17.0	17.0	17.0					1																	117150798		2187	4278	6465	SO:0001583	missense	3321					integral to membrane		g.chr1:117150798G>A	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.988C>T	1.37:g.117150798G>A	ENSP00000358498:p.Pro330Ser					IGSF3_uc001egq.1_Missense_Mutation_p.P330S|IGSF3_uc001egs.1_Missense_Mutation_p.P3S	p.P330S	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	5	1693	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	330			Ig-like C2-type 3.|Extracellular (Potential).		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.988C>T	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197442	0.79015	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.02498	4.27;4.27;4.27	4.67	4.67	0.58626	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.04092	0.0114	L	0.27053	0.805	0.80722	D	1	D;D;D	0.65815	0.993;0.995;0.995	P;P;D	0.65987	0.901;0.874;0.94	T	0.58255	-0.7668	10	0.46703	T	0.11	-26.7069	15.4322	0.75108	0.0:0.0:1.0:0.0	.	330;330;330	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	S	330	ENSP00000358498:P330S;ENSP00000358495:P330S;ENSP00000321184:P330S	ENSP00000321184:P330S	P	-	1	0	IGSF3	116952321	1.000000	0.71417	0.995000	0.50966	0.894000	0.52154	5.747000	0.68689	2.571000	0.86741	0.557000	0.71058	CCT		0.562	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1		NM_001542		11	13	0	0	0	0.00245	0	11	13		
CD101	9398	broad.mit.edu	37	1	117556174	117556174	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:117556174G>A	ENST00000256652.4	+	4	1046	c.988G>A	c.(988-990)Gat>Aat	p.D330N	CD101_ENST00000369470.1_Missense_Mutation_p.D330N	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	330	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGCTCACATTGATGCTGGTGG	0.493																																						uc010oxb.1		NaN																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(988-990)GAT>AAT		immunoglobulin superfamily, member 2 precursor							113.0	112.0	112.0					1																	117556174		2203	4300	6503	SO:0001583	missense	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117556174G>A	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.988G>A	1.37:g.117556174G>A	ENSP00000256652:p.Asp330Asn					CD101_uc009whd.2_Missense_Mutation_p.D330N|CD101_uc010oxc.1_Missense_Mutation_p.D330N|CD101_uc010oxd.1_Missense_Mutation_p.D268N	p.D330N	NM_004258	NP_004249	Q93033	IGSF2_HUMAN			4	1046	+			330			Ig-like C2-type 3.|Extracellular (Potential).		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.988G>A	CCDS891.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651949	0.29336	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.02631	4.22;4.22	5.85	3.8	0.43715	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.294028	0.28971	N	0.013550	T	0.02012	0.0063	M	0.80183	2.485	0.27037	N	0.964104	B	0.29162	0.235	B	0.31869	0.137	T	0.38243	-0.9670	10	0.38643	T	0.18	-5.7021	8.9731	0.35919	0.1844:0.0:0.8156:0.0	.	330	Q93033	IGSF2_HUMAN	N	330	ENSP00000256652:D330N;ENSP00000358482:D330N	ENSP00000256652:D330N	D	+	1	0	CD101	117357697	0.643000	0.27269	0.417000	0.26559	0.185000	0.23345	3.315000	0.51951	0.694000	0.31654	0.655000	0.94253	GAT		0.493	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1		NM_004258		8	73	0	0	0	0.008291	0	8	73		
ANKRD34A	284615	broad.mit.edu	37	1	145473612	145473612	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:145473612C>T	ENST00000323397.4	+	4	1577	c.284C>T	c.(283-285)tCg>tTg	p.S95L	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	95						cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGGTGGCCTCGCTGCTCCTT	0.721																																						uc001enq.1		NaN																	0					0						c.(283-285)TCG>TTG		ankyrin repeat domain 34							28.0	32.0	30.0					1																	145473612		2198	4294	6492	SO:0001583	missense	284615							g.chr1:145473612C>T	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.284C>T	1.37:g.145473612C>T	ENSP00000314103:p.Ser95Leu					NBPF10_uc001emp.3_Intron	p.S95L	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN			4	1577	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		95			ANK 3.		B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	c.284C>T	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397484	0.62177	.	.	ENSG00000181039	ENST00000323397	T	0.65178	-0.14	5.13	5.13	0.70059	Ankyrin repeat-containing domain (4);	0.597070	0.16302	N	0.220388	T	0.30039	0.0752	N	0.10809	0.05	0.41042	D	0.985232	B	0.31879	0.344	B	0.23275	0.045	T	0.38929	-0.9638	10	0.72032	D	0.01	-6.7011	16.1197	0.81342	0.0:1.0:0.0:0.0	.	95	Q69YU3	AN34A_HUMAN	L	95	ENSP00000314103:S95L	ENSP00000314103:S95L	S	+	2	0	ANKRD34A	144184969	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	5.549000	0.67261	2.658000	0.90341	0.491000	0.48974	TCG		0.721	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1				29	16	0	0	0	0.009535	0	29	16		
PI4KB	5298	broad.mit.edu	37	1	151261980	151261980	+	IGR	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:151261980C>G	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Silent_p.L866L			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTCCTCTGCTCTTTGCCCAAA	0.547																																					Colon(154;765 1838 9854 28443 37492)	uc001exq.2		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(2596-2598)CTC>CTG		zinc finger protein 687							143.0	130.0	134.0					1																	151261980		2203	4300	6503	SO:0001628	intergenic_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151261980C>G	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151261980C>G						ZNF687_uc009wmo.2_Silent_p.L866L|ZNF687_uc009wmp.2_Silent_p.L866L	p.L866L	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		5	2696	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		866			C2H2-type 6.		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	ENST00000368873.1	37	c.2598C>G		.	.	.	.	.	.	.	.	.	.	C	0.021	-1.419234	0.01136	.	.	ENSG00000143373	ENST00000426871	.	.	.	5.13	-3.76	0.04359	.	.	.	.	.	T	0.22044	0.0531	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34354	-0.9832	4	.	.	.	.	2.7769	0.05350	0.0959:0.3036:0.1908:0.4097	.	.	.	.	C	469	.	.	S	+	2	0	ZNF687	149528604	0.751000	0.28327	0.861000	0.33841	0.172000	0.22775	-0.079000	0.11357	-0.899000	0.03901	-2.069000	0.00389	TCT		0.547	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3		NM_002651		33	70	0	0	0	0.004878	0	33	70		
HRNR	388697	broad.mit.edu	37	1	152187697	152187697	+	Silent	SNP	G	G	A	rs558340256	byFrequency	TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:152187697G>A	ENST00000368801.2	-	3	6483	c.6408C>T	c.(6406-6408)caC>caT	p.H2136H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2136					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTAGAGCCGTGTTGTCCGT	0.557													G|||	3	0.000599042	0.0023	0.0	5008	,	,		56528	0.0		0.0	False		,,,				2504	0.0					uc001ezt.1		NaN																	0				skin(2)|ovary(1)	3						c.(6406-6408)CAC>CAT		hornerin							100.0	110.0	106.0					1																	152187697		1607	3273	4880	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187697G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6408C>T	1.37:g.152187697G>A							p.H2136H	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6484	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2136					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.6408C>T	CCDS30859.1																																																																																				0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1		XM_373868		62	546	0	0	0	0.01441	0	62	546		
ARHGEF2	9181	broad.mit.edu	37	1	155921970	155921970	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:155921970G>A	ENST00000361247.4	-	16	2140	c.2041C>T	c.(2041-2043)Cga>Tga	p.R681*	ARHGEF2_ENST00000462460.2_Nonsense_Mutation_p.R726*|ARHGEF2_ENST00000368315.4_Nonsense_Mutation_p.R682*|ARHGEF2_ENST00000368316.1_Nonsense_Mutation_p.R653*|ARHGEF2_ENST00000313695.7_Nonsense_Mutation_p.R653*|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313667.4_Nonsense_Mutation_p.R680*	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	681					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCTGGCTCTCGGGGTGTCAAG	0.602																																					Melanoma(178;35 2768 6610 28839)	uc001fmt.2		NaN																	0		p.N681S(1)		ovary(1)	1						c.(2041-2043)CGA>TGA		Rho/Rac guanine nucleotide exchange factor 2							55.0	52.0	53.0					1																	155921970		2203	4300	6503	SO:0001587	stop_gained	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	g.chr1:155921970G>A	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.2041C>T	1.37:g.155921970G>A	ENSP00000354837:p.Arg681*					ARHGEF2_uc001fmq.2_5'Flank|ARHGEF2_uc001fmr.2_Nonsense_Mutation_p.R653*|ARHGEF2_uc001fms.2_Nonsense_Mutation_p.R680*|ARHGEF2_uc001fmu.2_Nonsense_Mutation_p.R725*	p.R681*	NM_001162383	NP_001155855	Q92974	ARHG2_HUMAN			16	2159	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		681					D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Nonsense_Mutation	SNP	ENST00000361247.4	37	c.2041C>T	CCDS53376.1	.	.	.	.	.	.	.	.	.	.	G	36	5.813397	0.96975	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	.	.	.	5.39	4.44	0.53790	.	0.000000	0.39687	N	0.001289	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-24.7857	11.3831	0.49770	0.0:0.0:0.7027:0.2973	.	.	.	.	X	653;681;682;653;680	.	ENSP00000314787:R680X	R	-	1	2	ARHGEF2	154188594	0.998000	0.40836	0.995000	0.50966	0.962000	0.63368	2.277000	0.43417	2.804000	0.96469	0.655000	0.94253	CGA		0.602	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2		NM_004723		8	63	0	0	0	0.004482	0	8	63		
KCNJ10	3766	broad.mit.edu	37	1	160012277	160012277	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:160012277C>G	ENST00000368089.3	-	2	272	c.46G>C	c.(46-48)Gaa>Caa	p.E16Q	KCNJ10_ENST00000509700.1_5'Flank	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	16					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	GGCCGGCTTTCTGTCTGAGTG	0.532																																					GBM(167;1368 2014 14817 36425 43215)	uc001fuw.1		NaN																	0				ovary(1)	1						c.(46-48)GAA>CAA		potassium inwardly-rectifying channel, subfamily							75.0	69.0	71.0					1																	160012277		2203	4300	6503	SO:0001583	missense	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160012277C>G	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.46G>C	1.37:g.160012277C>G	ENSP00000357068:p.Glu16Gln						p.E16Q	NM_002241	NP_002232	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	196	-	all_hematologic(112;0.093)		16			Cytoplasmic (By similarity).		A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	c.46G>C	CCDS1193.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.230225	0.39399	.	.	ENSG00000177807	ENST00000368089	D	0.87966	-2.32	5.17	5.17	0.71159	.	0.802838	0.11551	N	0.552746	T	0.64260	0.2582	N	0.08118	0	0.46542	D	0.999098	B	0.09022	0.002	B	0.04013	0.001	T	0.52465	-0.8572	10	0.15952	T	0.53	.	16.2022	0.82088	0.0:1.0:0.0:0.0	.	16	P78508	IRK10_HUMAN	Q	16	ENSP00000357068:E16Q	ENSP00000357068:E16Q	E	-	1	0	KCNJ10	158278901	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	5.032000	0.64140	2.688000	0.91661	0.591000	0.81541	GAA		0.532	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1		NM_002241		142	30	0	0	0	0.01441	0	142	30		
NCSTN	23385	broad.mit.edu	37	1	160322686	160322686	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:160322686G>A	ENST00000294785.5	+	9	1131	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N	NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000392212.4_Missense_Mutation_p.D316N|NCSTN_ENST00000535857.1_Missense_Mutation_p.D198N|NCSTN_ENST00000368063.1_Missense_Mutation_p.D316N|NCSTN_ENST00000368065.4_Missense_Mutation_p.D78N	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	336					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAAACTTTTGACTACATTGG	0.502																																						uc001fvx.2		NaN																	0				ovary(1)|lung(1)	2						c.(1006-1008)GAC>AAC		nicastrin precursor							99.0	80.0	86.0					1																	160322686		2203	4300	6503	SO:0001583	missense	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160322686G>A	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.1006G>A	1.37:g.160322686G>A	ENSP00000294785:p.Asp336Asn					NCSTN_uc001fvy.2_Missense_Mutation_p.D316N|NCSTN_uc010pjf.1_Missense_Mutation_p.D198N|NCSTN_uc001fvz.2_Missense_Mutation_p.D116N|NCSTN_uc010pjg.1_Missense_Mutation_p.D78N	p.D336N	NM_015331	NP_056146	Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		9	1130	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		336	DY->AA: Increases production of amyloid beta (beta-APP40 and beta-APP42) in APP processing.		Extracellular (Potential).		Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.1006G>A	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	G	35	5.528777	0.96446	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000421914;ENST00000535857;ENST00000392212;ENST00000368065;ENST00000424754	T;T;T;T;T;T;T	0.79352	-0.57;-0.57;-1.26;-0.57;-0.57;-0.57;-0.57	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.86393	0.5922	M	0.87900	2.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83564	0.0108	10	0.14656	T	0.56	-32.5342	18.3043	0.90175	0.0:0.0:1.0:0.0	.	198;316;336	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	N	336;316;198;198;316;78;80	ENSP00000294785:D336N;ENSP00000357042:D316N;ENSP00000390409:D198N;ENSP00000442605:D198N;ENSP00000376047:D316N;ENSP00000357044:D78N;ENSP00000410124:D80N	ENSP00000294785:D336N	D	+	1	0	NCSTN	158589310	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.521000	0.90569	2.655000	0.90218	0.655000	0.94253	GAC		0.502	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1		NM_015331		22	132	0	0	0	0.00632	0	22	132		
DDR2	4921	broad.mit.edu	37	1	162745932	162745932	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:162745932C>G	ENST00000367922.3	+	17	2493	c.2055C>G	c.(2053-2055)acC>acG	p.T685T	RN7SL861P_ENST00000473793.2_RNA|DDR2_ENST00000367921.3_Silent_p.T685T	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	685	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TCAGTTACACCAATCTGAAGT	0.413																																					NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.2		NaN																	0				lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6						c.(2053-2055)ACC>ACG		discoidin domain receptor family, member 2							148.0	136.0	140.0					1																	162745932		2203	4300	6503	SO:0001819	synonymous_variant	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162745932C>G	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2055C>G	1.37:g.162745932C>G						DDR2_uc001gcg.2_Silent_p.T685T	p.T685T	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		17	2520	+	all_hematologic(112;0.115)		685			Cytoplasmic (Potential).|Protein kinase.		Q7Z730	Silent	SNP	ENST00000367922.3	37	c.2055C>G	CCDS1241.1																																																																																				0.413	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2		NM_006182		231	61	0	0	0	0.01441	0	231	61		
ZBTB41	360023	broad.mit.edu	37	1	197169253	197169253	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:197169253C>G	ENST00000367405.4	-	1	419	c.351G>C	c.(349-351)ttG>ttC	p.L117F	ZBTB41_ENST00000467322.1_5'UTR|CRB1_ENST00000535699.1_5'Flank	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	117	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GATTTTTGCTCAAACACGCAT	0.358																																						uc001gtx.1		NaN																	0				ovary(1)|skin(1)	2						c.(349-351)TTG>TTC		zinc finger and BTB domain containing 41							70.0	68.0	69.0					1																	197169253		2203	4300	6503	SO:0001583	missense	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197169253C>G		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.351G>C	1.37:g.197169253C>G	ENSP00000356375:p.Leu117Phe					ZBTB41_uc009wyz.1_RNA|CRB1_uc010poz.1_5'Flank	p.L117F	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN			1	420	-			117			BTB.		A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	c.351G>C	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.438848	0.25900	.	.	ENSG00000177888	ENST00000367405	T	0.60299	0.2	4.96	3.05	0.35203	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.34906	N	0.003596	T	0.35158	0.0922	N	0.05414	-0.055	0.44129	D	0.996916	B	0.33345	0.409	B	0.35353	0.201	T	0.12426	-1.0548	10	0.40728	T	0.16	.	8.8275	0.35063	0.0:0.6951:0.0:0.3049	.	117	Q5SVQ8	ZBT41_HUMAN	F	117	ENSP00000356375:L117F	ENSP00000356375:L117F	L	-	3	2	ZBTB41	195435876	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.462000	0.35266	0.465000	0.27167	0.305000	0.20034	TTG		0.358	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2		NM_194314		60	26	0	0	0	0.01441	0	60	26		
PCNXL2	80003	broad.mit.edu	37	1	233136233	233136233	+	Missense_Mutation	SNP	C	C	T	rs369348878		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:233136233C>T	ENST00000258229.9	-	30	5380	c.5146G>A	c.(5146-5148)Gag>Aag	p.E1716K	PCNXL2_ENST00000344698.2_Missense_Mutation_p.E368K	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1716						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGGATGGCCTCGTAGAGGACT	0.612																																						uc001hvl.2		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(5146-5148)GAG>AAG		pecanex-like 2		C	LYS/GLU	1,4023		0,1,2011	59.0	61.0	60.0		5146	5.5	1.0	1		60	0,8362		0,0,4181	no	missense	PCNXL2	NM_014801.3	56	0,1,6192	TT,TC,CC		0.0,0.0249,0.0081	probably-damaging	1716/2138	233136233	1,12385	2012	4181	6193	SO:0001583	missense	80003					integral to membrane		g.chr1:233136233C>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5146G>A	1.37:g.233136233C>T	ENSP00000258229:p.Glu1716Lys					PCNXL2_uc001hvk.1_Missense_Mutation_p.E368K|PCNXL2_uc001hvm.1_RNA	p.E1716K	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			30	5381	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1716					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.5146G>A	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	36	5.776316	0.96922	2.49E-4	0.0	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.47177	0.85;0.85	5.51	5.51	0.81932	.	0.090587	0.85682	D	0.000000	T	0.55955	0.1953	L	0.45051	1.395	0.80722	D	1	P;D	0.61697	0.913;0.99	P;P	0.52909	0.624;0.713	T	0.58278	-0.7664	10	0.87932	D	0	.	19.7892	0.96452	0.0:1.0:0.0:0.0	.	1716;368	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	K	368;1716	ENSP00000340759:E368K;ENSP00000258229:E1716K	ENSP00000258229:E1716K	E	-	1	0	PCNXL2	231202856	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	7.476000	0.81055	2.753000	0.94483	0.650000	0.86243	GAG		0.612	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3		NM_014801		7	7	0	0	0	0.00308	0	7	7		
RYR2	6262	broad.mit.edu	37	1	237806719	237806719	+	Silent	SNP	C	C	T	rs374418643		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:237806719C>T	ENST00000366574.2	+	48	7631	c.7314C>T	c.(7312-7314)atC>atT	p.I2438I	RYR2_ENST00000360064.6_Silent_p.I2436I|RYR2_ENST00000542537.1_Silent_p.I2422I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2438	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.I2436M(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTATCAGCATCGCTTTTCAGA	0.438																																						uc001hyl.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7312-7314)ATC>ATT		cardiac muscle ryanodine receptor		C		1,3805		0,1,1902	169.0	159.0	162.0		7314	-6.7	0.8	1		162	0,8254		0,0,4127	no	coding-synonymous	RYR2	NM_001035.2		0,1,6029	TT,TC,CC		0.0,0.0263,0.0083		2438/4968	237806719	1,12059	1903	4127	6030	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237806719C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7314C>T	1.37:g.237806719C>T							p.I2438I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		48	7434	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2438			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.7314C>T	CCDS55691.1																																																																																				0.438	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		42	34	0	0	0	0.011902	0	42	34		
RYR2	6262	broad.mit.edu	37	1	237947553	237947553	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr1:237947553G>A	ENST00000366574.2	+	90	12858	c.12541G>A	c.(12541-12543)Gga>Aga	p.G4181R	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.G4187R|RYR2_ENST00000542537.1_Missense_Mutation_p.G4165R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4181					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAACGAAGGCGGAGAGAAAGA	0.502																																						uc001hyl.1		NaN																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12541-12543)GGA>AGA		cardiac muscle ryanodine receptor							87.0	92.0	90.0					1																	237947553		1986	4175	6161	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947553G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12541G>A	1.37:g.237947553G>A	ENSP00000355533:p.Gly4181Arg					RYR2_uc010pya.1_Missense_Mutation_p.G596R	p.G4181R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12661	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4181					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12541G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094635	0.56075	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97505	-4.41;-4.41;-4.41	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000006	D	0.98732	0.9574	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.963	D	0.99616	1.0982	10	0.87932	D	0	.	19.4843	0.95024	0.0:0.0:1.0:0.0	.	1155;4181	B4DGV4;Q92736	.;RYR2_HUMAN	R	4181;4187;4165;1155	ENSP00000355533:G4181R;ENSP00000353174:G4187R;ENSP00000443798:G4165R	ENSP00000353174:G4187R	G	+	1	0	RYR2	236014176	1.000000	0.71417	0.354000	0.25760	0.068000	0.16541	9.813000	0.99286	2.610000	0.88304	0.655000	0.94253	GGA		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		6	76	0	0	0	0.00308	0	6	76		
IDI2	91734	broad.mit.edu	37	10	1070566	1070566	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:1070566G>A	ENST00000277517.1	-	2	162	c.98C>T	c.(97-99)gCc>gTc	p.A33V	IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000420381.1_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	33					cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		CTTGGTGTCGGCACCAATAAC	0.478																																						uc001ifv.1		NaN																	0					0						c.(97-99)GCC>GTC		isopentenyl-diphosphate delta isomerase 2							142.0	119.0	127.0					10																	1070566		2203	4300	6503	SO:0001583	missense	91734				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1070566G>A	AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.98C>T	10.37:g.1070566G>A	ENSP00000277517:p.Ala33Val					C10orf110_uc010qaf.1_Intron|C10orf110_uc001ifx.3_Intron|C10orf110_uc001ifw.3_Intron|C10orf110_uc001ify.3_Intron	p.A33V	NM_033261	NP_150286	Q9BXS1	IDI2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)	2	163	-		Colorectal(49;0.235)	33						Missense_Mutation	SNP	ENST00000277517.1	37	c.98C>T	CCDS7055.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664579	0.47572	.	.	ENSG00000148377	ENST00000277517	.	.	.	3.21	-0.161	0.13371	NUDIX hydrolase domain-like (1);	0.322402	0.31872	U	0.006928	T	0.43389	0.1245	M	0.74467	2.265	0.09310	N	0.99999	P	0.49559	0.925	P	0.46237	0.508	T	0.43507	-0.9387	9	0.27785	T	0.31	-2.5309	10.8009	0.46487	0.0:0.0:0.5107:0.4892	.	33	Q9BXS1	IDI2_HUMAN	V	33	.	ENSP00000277517:A33V	A	-	2	0	IDI2	1060566	0.095000	0.21747	0.000000	0.03702	0.462000	0.32619	2.151000	0.42263	-0.116000	0.11893	0.134000	0.15878	GCC		0.478	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046411.1		NM_033261		3	43	0	0	0	0.004672	0	3	43		
C10orf71	118461	broad.mit.edu	37	10	50532111	50532111	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:50532111G>A	ENST00000374144.3	+	3	1809	c.1521G>A	c.(1519-1521)cgG>cgA	p.R507R	C10orf71_ENST00000323868.4_Silent_p.R507R			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	507										endometrium(1)	1						AGGACGTGCGGAAGCGTGTTA	0.488																																						uc010qgp.1		NaN																	0					0						c.(1519-1521)CGG>CGA		hypothetical protein LOC118461 isoform 2							53.0	57.0	56.0					10																	50532111		2070	4201	6271	SO:0001819	synonymous_variant	118461							g.chr10:50532111G>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1521G>A	10.37:g.50532111G>A							p.R507R	NM_199459	NP_955629	Q711Q0	CJ071_HUMAN			3	1860	+			507					A0AVL8	Silent	SNP	ENST00000374144.3	37	c.1521G>A	CCDS44387.1																																																																																				0.488	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2		NM_199459		7	17	0	0	0	0.010729	0	7	17		
TFAM	7019	broad.mit.edu	37	10	60148581	60148581	+	Splice_Site	SNP	T	T	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:60148581T>G	ENST00000487519.1	+	4	967		c.e4+2		TFAM_ENST00000373899.3_Splice_Site|TFAM_ENST00000373895.3_Splice_Site	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial						DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAAAAAAAAGTGAGTATCATT	0.269																																						uc001jkf.2		NaN																	0					0						c.e4+2		transcription factor A, mitochondrial precursor							37.0	45.0	42.0					10																	60148581		2193	4294	6487	SO:0001630	splice_region_variant	7019				DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr10:60148581T>G	BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.441+2T>G	10.37:g.60148581T>G						TFAM_uc001jkg.2_Splice_Site|TFAM_uc001jkh.2_Splice_Site_p.K147_splice	p.K147_splice	NM_003201	NP_003192	Q00059	TFAM_HUMAN			4	573	+								A8MRB2|A9QXC6|B5BU05|Q5U0C6	Splice_Site	SNP	ENST00000487519.1	37	c.441_splice	CCDS7253.1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.330655	0.24167	.	.	ENSG00000108064	ENST00000487519;ENST00000373895;ENST00000395377	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0204	0.53340	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TFAM	59818587	1.000000	0.71417	1.000000	0.80357	0.136000	0.21042	4.284000	0.58983	2.096000	0.63516	0.482000	0.46254	.		0.269	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1		NM_003201	Intron	8	19	0	0	0	0.010729	0	8	19		
JMJD1C	221037	broad.mit.edu	37	10	64968350	64968350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:64968350G>A	ENST00000399262.2	-	10	3297	c.3079C>T	c.(3079-3081)Caa>Taa	p.Q1027*	JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q808*|JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.Q808*|JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q845*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1027					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATACTTTCTTGAAGAATTCGA	0.418																																						uc001jmn.2		NaN																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(3079-3081)CAA>TAA		jumonji domain containing 1C isoform a							216.0	201.0	206.0					10																	64968350		1883	4119	6002	SO:0001587	stop_gained	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64968350G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3079C>T	10.37:g.64968350G>A	ENSP00000382204:p.Gln1027*					JMJD1C_uc001jml.2_Nonsense_Mutation_p.Q808*|JMJD1C_uc001jmm.2_Nonsense_Mutation_p.Q739*|JMJD1C_uc010qiq.1_Nonsense_Mutation_p.Q845*|JMJD1C_uc009xpi.2_Nonsense_Mutation_p.Q845*|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Nonsense_Mutation_p.Q64*	p.Q1027*	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			10	3379	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1027					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Nonsense_Mutation	SNP	ENST00000399262.2	37	c.3079C>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	48	14.087244	0.99778	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	.	.	.	5.9	5.9	0.94986	.	0.054504	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-12.8384	20.282	0.98514	0.0:0.0:1.0:0.0	.	.	.	.	X	1027;808;808;845	.	ENSP00000382195:Q808X	Q	-	1	0	JMJD1C	64638356	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.274000	0.78538	2.786000	0.95864	0.563000	0.77884	CAA		0.418	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2		NM_004241		30	72	0	0	0	0.009535	0	30	72		
JMJD1C	221037	broad.mit.edu	37	10	64968353	64968353	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:64968353G>A	ENST00000399262.2	-	10	3294	c.3076C>T	c.(3076-3078)Ctt>Ttt	p.L1026F	JMJD1C_ENST00000402544.1_Missense_Mutation_p.L807F|JMJD1C_ENST00000399251.1_Missense_Mutation_p.L807F|JMJD1C_ENST00000542921.1_Missense_Mutation_p.L844F	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1026					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.L1026F(1)|p.L807F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTTTCTTGAAGAATTCGACGG	0.423																																						uc001jmn.2		NaN																	2	Substitution - Missense(2)		large_intestine(2)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(3076-3078)CTT>TTT		jumonji domain containing 1C isoform a							220.0	204.0	209.0					10																	64968353		1884	4119	6003	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64968353G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3076C>T	10.37:g.64968353G>A	ENSP00000382204:p.Leu1026Phe					JMJD1C_uc001jml.2_Missense_Mutation_p.L807F|JMJD1C_uc001jmm.2_Missense_Mutation_p.L738F|JMJD1C_uc010qiq.1_Missense_Mutation_p.L844F|JMJD1C_uc009xpi.2_Missense_Mutation_p.L844F|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.L63F	p.L1026F	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			10	3376	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1026					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.3076C>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480051	0.63849	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.71579	-0.24;-0.58;1.22;-0.23	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.64997	1.995	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.83786	0.0228	10	0.72032	D	0.01	-14.2854	20.282	0.98514	0.0:0.0:1.0:0.0	.	567;1026;844	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	F	1026;807;807;844	ENSP00000382204:L1026F;ENSP00000384990:L807F;ENSP00000382195:L807F;ENSP00000444682:L844F	ENSP00000382195:L807F	L	-	1	0	JMJD1C	64638359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.318000	0.72866	2.786000	0.95864	0.563000	0.77884	CTT		0.423	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2		NM_004241		31	69	0	0	0	0.012213	0	31	69		
PBLD	64081	broad.mit.edu	37	10	70044041	70044041	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:70044041G>A	ENST00000358769.2	-	10	962	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	PBLD_ENST00000309049.4_Nonsense_Mutation_p.Q254*|PBLD_ENST00000336578.1_Nonsense_Mutation_p.Q221*	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	254					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGGGAACACTGAAAAGCTAAA	0.423																																						uc001jns.1		NaN																	0				skin(2)|ovary(1)	3						c.(760-762)CAG>TAG		MAWD binding protein isoform a							109.0	97.0	101.0					10																	70044041		2203	4300	6503	SO:0001587	stop_gained	64081				biosynthetic process		isomerase activity	g.chr10:70044041G>A	AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.760C>T	10.37:g.70044041G>A	ENSP00000351619:p.Gln254*					PBLD_uc001jnr.1_Nonsense_Mutation_p.Q221*|PBLD_uc001jnt.1_Nonsense_Mutation_p.Q254*	p.Q254*	NM_022129	NP_071412	P30039	PBLD_HUMAN			10	963	-			254					A8MZJ3|C9JIM0|Q9HCC2	Nonsense_Mutation	SNP	ENST00000358769.2	37	c.760C>T	CCDS7277.2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594294	0.86953	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.1385	17.749	0.88429	0.0:0.0:1.0:0.0	.	.	.	.	X	221;254;254	.	ENSP00000308466:Q254X	Q	-	1	0	PBLD	69714047	1.000000	0.71417	1.000000	0.80357	0.182000	0.23217	4.493000	0.60341	2.713000	0.92767	0.655000	0.94253	CAG		0.423	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1		NM_022129		18	31	0	0	0	0.006122	0	18	31		
ZMIZ1	57178	broad.mit.edu	37	10	81072474	81072474	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:81072474G>A	ENST00000334512.5	+	25	3744	c.3172G>A	c.(3172-3174)Gat>Aat	p.D1058N	ZMIZ1_ENST00000446377.2_Missense_Mutation_p.D124N	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1058					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAATAGTAACGATGACCTCCT	0.537																																						uc001kaf.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(3172-3174)GAT>AAT		retinoic acid induced 17							159.0	151.0	153.0					10																	81072474		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81072474G>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.3172G>A	10.37:g.81072474G>A	ENSP00000334474:p.Asp1058Asn					ZMIZ1_uc001kag.2_Missense_Mutation_p.D934N|ZMIZ1_uc010qlq.1_Missense_Mutation_p.D124N	p.D1058N	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		25	3744	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		1058					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.3172G>A	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757117	0.89843	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347;ENST00000446377	T	0.46819	0.86	4.92	4.92	0.64577	.	0.000000	0.39341	U	0.001392	T	0.69593	0.3128	M	0.76170	2.325	0.41401	D	0.987671	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.959	T	0.74551	-0.3628	10	0.87932	D	0	-11.8638	18.4748	0.90788	0.0:0.0:1.0:0.0	.	124;1058	B4DSG4;Q9ULJ6	.;ZMIZ1_HUMAN	N	1058;988;959;124	ENSP00000334474:D1058N	ENSP00000334474:D1058N	D	+	1	0	ZMIZ1	80742480	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.386000	0.97228	2.443000	0.82685	0.491000	0.48974	GAT		0.537	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2		NM_020338		54	104	0	0	0	0.01441	0	54	104		
NOC3L	64318	broad.mit.edu	37	10	96116974	96116974	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:96116974G>C	ENST00000371361.3	-	4	565	c.465C>G	c.(463-465)atC>atG	p.I155M	NOC3L_ENST00000371350.1_Missense_Mutation_p.I155M|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	155					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TTTTATCTTTGATAGGAAGTA	0.368																																						uc001kjq.1		NaN																	0				ovary(1)	1						c.(463-465)ATC>ATG		nucleolar complex associated 3 homolog							148.0	140.0	143.0					10																	96116974		2203	4300	6503	SO:0001583	missense	64318					nuclear speck|nucleolus	binding	g.chr10:96116974G>C	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.465C>G	10.37:g.96116974G>C	ENSP00000360412:p.Ile155Met					NOC3L_uc009xuk.1_Translation_Start_Site	p.I155M	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN			4	553	-		Colorectal(252;0.0897)	155					Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	c.465C>G	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099865	0.56183	.	.	ENSG00000173145	ENST00000371361;ENST00000371350	T;T	0.32988	1.43;1.43	5.18	2.24	0.28232	.	0.000000	0.85682	D	0.000000	T	0.36082	0.0954	L	0.32530	0.975	0.51012	D	0.999905	D	0.76494	0.999	D	0.70935	0.971	T	0.16837	-1.0389	10	0.87932	D	0	0.0436	4.6399	0.12543	0.2862:0.0:0.5659:0.1478	.	155	Q8WTT2	NOC3L_HUMAN	M	155	ENSP00000360412:I155M;ENSP00000360401:I155M	ENSP00000360401:I155M	I	-	3	3	NOC3L	96106964	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	3.811000	0.55620	0.663000	0.31027	0.561000	0.74099	ATC		0.368	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1		NM_022451		41	33	0	0	0	0.01441	0	41	33		
SLK	9748	broad.mit.edu	37	10	105763061	105763061	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:105763061C>G	ENST00000369755.3	+	9	2670	c.2125C>G	c.(2125-2127)Cta>Gta	p.L709V	SLK_ENST00000335753.4_Missense_Mutation_p.L709V	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	709					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCAGCCTGTTCTAATACCCAG	0.353																																					NSCLC(111;540 1651 1927 4474 17706)	uc001kxo.1		NaN																	0				ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8						c.(2125-2127)CTA>GTA		serine/threonine kinase 2							61.0	64.0	63.0					10																	105763061		2203	4300	6503	SO:0001583	missense	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105763061C>G		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.2125C>G	10.37:g.105763061C>G	ENSP00000358770:p.Leu709Val					SLK_uc001kxp.1_Missense_Mutation_p.L709V	p.L709V	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	9	2159	+		Colorectal(252;0.178)	709					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	ENST00000369755.3	37	c.2125C>G	CCDS7553.1	.	.	.	.	.	.	.	.	.	.	C	1.789	-0.479889	0.04383	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.68765	-0.35;-0.33	5.71	2.68	0.31781	Protein kinase-like domain (1);	0.946532	0.08983	N	0.865442	T	0.45316	0.1336	L	0.28274	0.84	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.37126	-0.9719	10	0.02654	T	1	.	4.8537	0.13549	0.1492:0.6188:0.0:0.2321	.	709;709	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	V	709	ENSP00000336824:L709V;ENSP00000358770:L709V	ENSP00000336824:L709V	L	+	1	2	SLK	105753051	0.000000	0.05858	0.775000	0.31657	0.912000	0.54170	0.794000	0.26958	0.753000	0.32945	0.555000	0.69702	CTA		0.353	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1		NM_014720		30	20	0	0	0	0.009718	0	30	20		
ZDHHC6	64429	broad.mit.edu	37	10	114192016	114192016	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:114192016C>G	ENST00000369405.3	-	10	1543	c.1120G>C	c.(1120-1122)Gat>Cat	p.D374H	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.D370H|ZDHHC6_ENST00000482410.1_5'UTR	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	374					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		AAGGAATCATCAAGAATTTTG	0.274																																						uc001kzv.2		NaN																	0					0						c.(1120-1122)GAT>CAT		zinc finger, DHHC-type containing 6							64.0	66.0	65.0					10																	114192016		2202	4297	6499	SO:0001583	missense	64429					integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:114192016C>G	AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"""Zinc fingers, DHHC-type"""	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.1120G>C	10.37:g.114192016C>G	ENSP00000358413:p.Asp374His					ZDHHC6_uc001kzw.2_Missense_Mutation_p.D370H	p.D374H	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN		Epithelial(162;0.0291)|all cancers(201;0.117)	10	1544	-		Colorectal(252;0.198)	374					D3DRB6|Q53G45|Q96IV7|Q9H605	Missense_Mutation	SNP	ENST00000369405.3	37	c.1120G>C	CCDS7574.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101126	0.56183	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	T;T	0.09723	2.95;2.95	6.17	5.27	0.74061	Src homology-3 domain (1);Variant SH3 (1);	0.374010	0.34291	N	0.004084	T	0.17450	0.0419	L	0.59436	1.845	0.35811	D	0.823886	P;P	0.39022	0.603;0.655	B;P	0.45998	0.277;0.5	T	0.02610	-1.1134	10	0.66056	D	0.02	-1.325	10.1696	0.42902	0.0:0.8634:0.0:0.1366	.	370;374	Q9H6R6-2;Q9H6R6	.;ZDHC6_HUMAN	H	374;370	ENSP00000358413:D374H;ENSP00000358412:D370H	ENSP00000358412:D370H	D	-	1	0	ZDHHC6	114182006	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	0.990000	0.29642	2.941000	0.99782	0.655000	0.94253	GAT		0.274	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050393.1		NM_022494		5	11	0	0	0	0.001168	0	5	11		
MTG1	92170	broad.mit.edu	37	10	135204914	135204914	+	5'Flank	SNP	C	C	T	rs140094339	byFrequency	TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:135204914C>T	ENST00000317502.6	+	0	0				PAOX_ENST00000278060.5_Silent_p.L497L|RP11-108K14.8_ENST00000468317.2_Nonsense_Mutation_p.Q37*|PAOX_ENST00000368539.4_3'UTR|MTG1_ENST00000477902.2_5'Flank|PAOX_ENST00000480071.2_3'UTR|PAOX_ENST00000357296.3_Nonsense_Mutation_p.Q445*|PAOX_ENST00000368535.2_3'UTR	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1						GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		ACCGCCTCCTCAGTCTGTGGG	0.662													c|||	3	0.000599042	0.0	0.0	5008	,	,		16803	0.003		0.0	False		,,,				2504	0.0					uc001lmv.2		NaN																	0					0						c.(1489-1491)CTC>CTT		polyamine oxidase isoform 1		C	,,stop/GLN	1,4403		0,1,2201	44.0	49.0	47.0		1491,,1333	-9.3	0.0	10	dbSNP_134	47	0,8596		0,0,4298	no	coding-synonymous,utr-3,stop-gained	PAOX	NM_152911.2,NM_207127.1,NM_207128.1	,,	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	,,	497/512,,445/487	135204914	1,12999	2202	4298	6500	SO:0001631	upstream_gene_variant	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135204914C>T		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564		10.37:g.135204914C>T	Exception_encountered					PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Nonsense_Mutation_p.Q445*|PAOX_uc001lmy.2_3'UTR|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA|MTG1_uc001lnd.2_5'Flank	p.L497L	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	7	1571	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	635					Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Silent	SNP	ENST00000317502.6	37	c.1491C>T	CCDS31320.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	c|c	18.55|18.55	3.648984|3.648984	0.67358|0.67358	2.27E-4|2.27E-4	0.0|0.0	ENSG00000148832;ENSG00000254536|ENSG00000148832	ENST00000357296;ENST00000468317|ENST00000368544;ENST00000368534	.|.	.|.	.|.	5.05|5.05	-9.33|-9.33	0.00639|0.00639	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33933	.|0.0880	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.38693	.|-0.9649	.|3	0.02654|.	T|.	1|.	-0.7029|-0.7029	10.9363|10.9363	0.47247|0.47247	0.0:0.1759:0.583:0.241|0.0:0.1759:0.583:0.241	.|.	.|.	.|.	.|.	X|L	445;37|56;86	.|.	ENSP00000436767:Q37X|.	Q|S	+|+	1|2	0|0	PAOX;MTG1|PAOX	135054904|135054904	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-1.852000|-1.852000	0.01667|0.01667	-2.430000|-2.430000	0.00557|0.00557	-0.300000|-0.300000	0.09419|0.09419	CAG|TCA		0.662	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1		NM_138384		24	35	0	0	0	0.003954	0	24	35		
TRPM5	29850	broad.mit.edu	37	11	2436597	2436597	+	Silent	SNP	C	C	T	rs199917878		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:2436597C>T	ENST00000155858.6	-	9	1241	c.1233G>A	c.(1231-1233)acG>acA	p.T411T	TRPM5_ENST00000533060.1_Silent_p.T411T|TRPM5_ENST00000452833.1_Silent_p.T413T|TRPM5_ENST00000528453.1_Silent_p.T411T	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCCGCCCATACGTCAGGAAGT	0.652																																					NSCLC(1;49 61 17205 18850 43201)	uc001lwm.3		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(1231-1233)ACG>ACA		transient receptor potential cation channel,		C		0,4380		0,0,2190	16.0	16.0	16.0		1233	-6.4	1.0	11		16	1,8581		0,1,4290	no	coding-synonymous	TRPM5	NM_014555.3		0,1,6480	TT,TC,CC		0.0117,0.0,0.0077		411/1166	2436597	1,12961	2190	4291	6481	SO:0001819	synonymous_variant	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2436597C>T	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.1233G>A	11.37:g.2436597C>T						TRPM5_uc010qxl.1_Silent_p.T411T|TRPM5_uc009ydn.2_Silent_p.T413T	p.T411T	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	9	1242	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	411			Cytoplasmic (Potential).			Silent	SNP	ENST00000155858.6	37	c.1233G>A	CCDS31340.1																																																																																				0.652	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1		NM_014555		5	9	0	0	0	0.000602	0	5	9		
CCKBR	887	broad.mit.edu	37	11	6281307	6281307	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:6281307G>A	ENST00000334619.2	+	1	342	c.149G>A	c.(148-150)cGa>cAa	p.R50Q	CCKBR_ENST00000525462.1_Missense_Mutation_p.R50Q|CCKBR_ENST00000531712.1_Missense_Mutation_p.R50Q|CCKBR_ENST00000532715.1_Missense_Mutation_p.R50Q|CCKBR_ENST00000525014.1_Missense_Mutation_p.R50Q	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	50					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCCGGGACACGAGGTGGGTGC	0.647																																						uc001mcp.2		NaN																	0				lung(5)|ovary(2)|breast(1)	8						c.(148-150)CGA>CAA		cholecystokinin B receptor	Pentagastrin(DB00183)						16.0	20.0	19.0					11																	6281307		2185	4280	6465	SO:0001583	missense	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6281307G>A	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.149G>A	11.37:g.6281307G>A	ENSP00000335544:p.Arg50Gln					CCKBR_uc001mcq.2_5'UTR|CCKBR_uc001mcr.2_Missense_Mutation_p.R50Q|CCKBR_uc001mcs.2_Missense_Mutation_p.R50Q	p.R50Q	NM_176875	NP_795344	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	1	342	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	50			Extracellular (Potential).		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.149G>A	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	g	13.04	2.117259	0.37339	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525014;ENST00000525462;ENST00000531712	T;T;T;T;T	0.71934	1.2;-0.61;1.2;1.2;0.19	2.77	2.77	0.32553	.	0.233205	0.21653	U	0.071144	T	0.68943	0.3056	L	0.53249	1.67	0.26810	N	0.969025	D;B	0.69078	0.997;0.345	P;B	0.50791	0.65;0.056	T	0.60520	-0.7247	10	0.37606	T	0.19	.	9.2458	0.37525	0.0:0.0:1.0:0.0	.	50;50	P32239-2;P32239	.;GASR_HUMAN	Q	50	ENSP00000335544:R50Q;ENSP00000432079:R50Q;ENSP00000437001:R50Q;ENSP00000435534:R50Q;ENSP00000435675:R50Q	ENSP00000335544:R50Q	R	+	2	0	CCKBR	6237883	0.986000	0.35501	0.998000	0.56505	0.602000	0.36980	0.914000	0.28624	1.868000	0.54150	0.479000	0.44913	CGA		0.647	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2		NM_176875		21	29	0	0	0	0.008361	0	21	29		
KCNC1	3746	broad.mit.edu	37	11	17757753	17757753	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:17757753G>A	ENST00000379472.3	+	1	234	c.204G>A	c.(202-204)ctG>ctA	p.L68L	KCNC1_ENST00000265969.6_Silent_p.L68L	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	68					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)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CGCACATCCTGAACTACTACC	0.672																																						uc001mnk.3		NaN																	0				upper_aerodigestive_tract(1)	1						c.(202-204)CTG>CTA		Shaw-related voltage-gated potassium channel							52.0	48.0	49.0					11																	17757753		2200	4293	6493	SO:0001819	synonymous_variant	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17757753G>A	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.204G>A	11.37:g.17757753G>A						KCNC1_uc009yhc.1_Silent_p.L68L	p.L68L	NM_004976	NP_004967	P48547	KCNC1_HUMAN			1	259	+			68			Cytoplasmic (Potential).		K4DI87	Silent	SNP	ENST00000379472.3	37	c.204G>A	CCDS7827.1																																																																																				0.672	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1		NM_004976		24	33	0	0	0	0.004656	0	24	33		
SLC17A6	57084	broad.mit.edu	37	11	22396376	22396376	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:22396376C>G	ENST00000263160.3	+	9	1554	c.1117C>G	c.(1117-1119)Cta>Gta	p.L373V		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	373					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|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)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGCAGATTTTCTAAGAAGCAA	0.388																																						uc001mqk.2		NaN																	0				ovary(3)|breast(1)	4						c.(1117-1119)CTA>GTA		solute carrier family 17 (sodium-dependent							218.0	215.0	216.0					11																	22396376		2203	4300	6503	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22396376C>G	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1117C>G	11.37:g.22396376C>G	ENSP00000263160:p.Leu373Val						p.L373V	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			9	1530	+			373			Cytoplasmic (Potential).		A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.1117C>G	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752028	0.69533	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.59638	0.25	5.95	4.03	0.46877	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.67869	0.2939	M	0.72353	2.195	0.58432	D	0.999999	P	0.45986	0.87	P	0.57057	0.812	T	0.68236	-0.5462	10	0.72032	D	0.01	.	8.3764	0.32445	0.0:0.6915:0.0:0.3085	.	373	Q9P2U8	VGLU2_HUMAN	V	373;261	ENSP00000263160:L373V	ENSP00000263160:L373V	L	+	1	2	SLC17A6	22352952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.847000	0.39299	0.793000	0.33875	0.579000	0.79373	CTA		0.388	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1		NM_020346		84	103	0	0	0	0.01441	0	84	103		
BBOX1	8424	broad.mit.edu	37	11	27077157	27077157	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:27077157G>A	ENST00000529202.1	+	2	519	c.180G>A	c.(178-180)gtG>gtA	p.V60V	BBOX1_ENST00000525090.1_Silent_p.V60V|BBOX1_ENST00000263182.3_Silent_p.V60V|BBOX1_ENST00000527505.1_3'UTR|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000528583.1_Silent_p.V60V			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	60					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	CTCTTGATGTGAACATTGGAA	0.408																																						uc001mre.1		NaN																	0				ovary(1)	1						c.(178-180)GTG>GTA		gamma-butyrobetaine dioxygenase	Succinic acid(DB00139)|Vitamin C(DB00126)						86.0	83.0	84.0					11																	27077157		2202	4299	6501	SO:0001819	synonymous_variant	8424				carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr11:27077157G>A	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.180G>A	11.37:g.27077157G>A						BBOX1_uc009yih.1_Silent_p.V60V|BBOX1_uc001mrg.1_Silent_p.V60V	p.V60V	NM_003986	NP_003977	O75936	BODG_HUMAN			3	548	+			60					B2R8L7|D3DQZ1|Q6IBJ2	Silent	SNP	ENST00000529202.1	37	c.180G>A	CCDS7862.1																																																																																				0.408	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1		NM_003986		9	12	0	0	0	0.010729	0	9	12		
FNBP4	23360	broad.mit.edu	37	11	47767859	47767859	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:47767859C>G	ENST00000263773.5	-	7	1006	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	332						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TTTATTCCCTCAGGCAATAAA	0.398																																						uc009ylv.2		NaN																	0				ovary(1)	1						c.(994-996)GAG>CAG		formin binding protein 4							100.0	96.0	97.0					11																	47767859		1822	4076	5898	SO:0001583	missense	23360							g.chr11:47767859C>G	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.994G>C	11.37:g.47767859C>G	ENSP00000263773:p.Glu332Gln					FNBP4_uc001ngj.2_Missense_Mutation_p.E239Q|FNBP4_uc001ngl.2_RNA	p.E332Q	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN			7	1147	-			332					Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.994G>C	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510042	0.85282	.	.	ENSG00000109920	ENST00000263773	T	0.35421	1.31	6.17	6.17	0.99709	.	0.208186	0.49916	D	0.000139	T	0.33760	0.0874	N	0.24115	0.695	0.44946	D	0.997963	P	0.47106	0.89	B	0.43413	0.419	T	0.03413	-1.1039	10	0.48119	T	0.1	-20.0007	20.8794	0.99867	0.0:1.0:0.0:0.0	.	332	Q8N3X1	FNBP4_HUMAN	Q	332	ENSP00000263773:E332Q	ENSP00000263773:E332Q	E	-	1	0	FNBP4	47724435	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	3.859000	0.55987	2.941000	0.99782	0.655000	0.94253	GAG		0.398	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3				13	14	0	0	0	0.001855	0	13	14		
OR4C15	81309	broad.mit.edu	37	11	55322235	55322235	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:55322235G>A	ENST00000314644.2	+	1	453	c.453G>A	c.(451-453)atG>atA	p.M151I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AAGGCTGCATGATGCAGCTCT	0.483										HNSCC(20;0.049)																												uc010rig.1		NaN																	0				ovary(1)|skin(1)	2						c.(451-453)ATG>ATA		olfactory receptor, family 4, subfamily C,							147.0	130.0	136.0					11																	55322235		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322235G>A	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.453G>A	11.37:g.55322235G>A	ENSP00000324958:p.Met151Ile	HNSCC(20;0.049)					p.M151I	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	453	+			97			Extracellular (Potential).		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.453G>A	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912674	0.33721	.	.	ENSG00000181939	ENST00000314644	T	0.00359	7.87	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	N	0.17278	0.47	0.29182	N	0.876444	B	0.20368	0.044	B	0.26094	0.066	T	0.48234	-0.9053	9	0.51188	T	0.08	.	11.7166	0.51657	0.0:0.1779:0.8221:0.0	.	97	Q8NGM1	OR4CF_HUMAN	I	151	ENSP00000324958:M151I	ENSP00000324958:M151I	M	+	3	0	OR4C15	55078811	0.000000	0.05858	0.983000	0.44433	0.759000	0.43091	-0.826000	0.04429	2.665000	0.90641	0.385000	0.25706	ATG		0.483	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1		NM_001001920		42	66	0	0	0	0.009718	0	42	66		
OR5L2	26338	broad.mit.edu	37	11	55594854	55594854	+	Missense_Mutation	SNP	C	C	T	rs376554037		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:55594854C>T	ENST00000378397.1	+	1	160	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R54G(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GGTCAGCTCTCGGCTCCACAC	0.473										HNSCC(27;0.073)																												uc001nhy.1		NaN																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(160-162)CGG>TGG		olfactory receptor, family 5, subfamily L,		C	TRP/ARG	0,4400		0,0,2200	282.0	252.0	262.0		160	3.4	0.1	11		262	1,8591		0,1,4295	no	missense	OR5L2	NM_001004739.1	101	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	54/312	55594854	1,12991	2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594854C>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.160C>T	11.37:g.55594854C>T	ENSP00000367650:p.Arg54Trp	HNSCC(27;0.073)					p.R54W	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	160	+		all_epithelial(135;0.208)	54			Cytoplasmic (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.160C>T	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	9.452	1.090738	0.20471	0.0	1.16E-4	ENSG00000205030	ENST00000378397	T	0.01152	5.26	5.31	3.4	0.38934	GPCR, rhodopsin-like superfamily (1);	1.868500	0.02951	N	0.141697	T	0.03011	0.0089	M	0.75777	2.31	0.09310	N	1	D	0.59767	0.986	B	0.42386	0.386	T	0.49899	-0.8890	10	0.87932	D	0	9.4321	8.776	0.34762	0.304:0.5489:0.1471:0.0	.	54	Q8NGL0	OR5L2_HUMAN	W	54	ENSP00000367650:R54W	ENSP00000367650:R54W	R	+	1	2	OR5L2	55351430	0.000000	0.05858	0.107000	0.21349	0.002000	0.02628	-0.584000	0.05800	0.738000	0.32606	-0.201000	0.12746	CGG		0.473	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1		NM_001004739		144	59	0	0	0	0.01441	0	144	59		
SLC15A3	51296	broad.mit.edu	37	11	60718900	60718900	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:60718900C>T	ENST00000227880.3	-	1	357	c.124G>A	c.(124-126)Gag>Aag	p.E42K		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	42					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						TCCAGCATCTCCACCAGCAGC	0.756																																						uc001nqn.2		NaN																	0					0						c.(124-126)GAG>AAG		solute carrier family 15, member 3							5.0	5.0	5.0					11																	60718900		1792	3636	5428	SO:0001583	missense	51296				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr11:60718900C>T	AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"""Solute carriers"""	18068	protein-coding gene	gene with protein product		610408	"""solute carrier family 15, member 3"""			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.124G>A	11.37:g.60718900C>T	ENSP00000227880:p.Glu42Lys					SLC15A3_uc001nqo.2_Missense_Mutation_p.E42K	p.E42K	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN			1	358	-			42			Helical; (Potential).		Q9P2X9	Missense_Mutation	SNP	ENST00000227880.3	37	c.124G>A	CCDS7998.1	.	.	.	.	.	.	.	.	.	.	c	21.3	4.122159	0.77436	.	.	ENSG00000110446	ENST00000227880;ENST00000442626	T	0.58940	0.3	3.48	0.0975	0.14494	Major facilitator superfamily domain, general substrate transporter (1);	0.735989	0.10987	U	0.612009	T	0.80808	0.4694	H	0.94183	3.505	0.29867	N	0.827141	D;B	0.89917	1.0;0.007	D;B	0.69654	0.965;0.012	T	0.76639	-0.2885	10	0.87932	D	0	-5.9123	13.363	0.60667	0.0:0.5078:0.4921:0.0	.	42;42	F5H1C8;Q8IY34	.;S15A3_HUMAN	K	42	ENSP00000227880:E42K	ENSP00000227880:E42K	E	-	1	0	SLC15A3	60475476	0.990000	0.36364	0.976000	0.42696	0.833000	0.47200	1.659000	0.37387	-0.226000	0.09899	-0.508000	0.04489	GAG		0.756	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396366.1		NM_016582		3	7	0	0	0	0.009096	0	3	7		
AHNAK	79026	broad.mit.edu	37	11	62295516	62295516	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:62295516G>T	ENST00000378024.4	-	5	6647	c.6373C>A	c.(6373-6375)Cac>Aac	p.H2125N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2125					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTCAAGTGTAAGTCCACA	0.522																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(6373-6375)CAC>AAC		AHNAK nucleoprotein isoform 1							193.0	207.0	202.0					11																	62295516		2202	4297	6499	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295516G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6373C>A	11.37:g.62295516G>T	ENSP00000367263:p.His2125Asn					AHNAK_uc001ntk.1_Intron	p.H2125N	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	6673	-		Melanoma(852;0.155)	2125					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6373C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-2.897177	0.00059	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.00705	5.81	3.51	-7.02	0.01589	.	.	.	.	.	T	0.00356	0.0011	N	0.01122	-1.005	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.48581	-0.9023	9	0.07813	T	0.8	.	15.9759	0.80063	0.0:0.0:0.7207:0.2793	.	2125	Q09666	AHNK_HUMAN	N	214;2125	ENSP00000367263:H2125N	ENSP00000244934:H214N	H	-	1	0	AHNAK	62052092	0.000000	0.05858	0.000000	0.03702	0.180000	0.23129	-2.290000	0.01148	-1.362000	0.02166	-0.887000	0.02937	CAC		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		5	240	1	0	0.00198382	0.001984	0.00202489	5	240		
AHNAK	79026	broad.mit.edu	37	11	62295522	62295522	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:62295522C>T	ENST00000378024.4	-	5	6641	c.6367G>A	c.(6367-6369)Gac>Aac	p.D2123N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2123					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAGTGTAAGTCCACATCAGGC	0.522																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(6367-6369)GAC>AAC		AHNAK nucleoprotein isoform 1							193.0	207.0	202.0					11																	62295522		2202	4297	6499	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295522C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6367G>A	11.37:g.62295522C>T	ENSP00000367263:p.Asp2123Asn					AHNAK_uc001ntk.1_Intron	p.D2123N	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	6667	-		Melanoma(852;0.155)	2123					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6367G>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	4.001	-0.002512	0.07819	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.02085	4.46	3.51	1.57	0.23409	.	.	.	.	.	T	0.05593	0.0147	M	0.89478	3.035	0.19300	N	0.999978	B	0.13145	0.007	B	0.13407	0.009	T	0.15867	-1.0422	9	0.51188	T	0.08	.	8.8801	0.35370	0.0:0.8095:0.0:0.1905	.	2123	Q09666	AHNK_HUMAN	N	212;2123	ENSP00000367263:D2123N	ENSP00000244934:D212N	D	-	1	0	AHNAK	62052098	0.581000	0.26741	0.001000	0.08648	0.182000	0.23217	2.365000	0.44196	0.124000	0.18369	0.298000	0.19748	GAC		0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		6	237	0	0	0	0.00308	0	6	237		
UQCC3	790955	broad.mit.edu	37	11	62439585	62439585	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:62439585G>A	ENST00000531323.1	+	3	824	c.281G>A	c.(280-282)tGa>tAa	p.*94*	C11orf48_ENST00000431002.2_5'Flank|C11orf48_ENST00000532208.1_5'Flank|C11orf48_ENST00000354588.3_5'Flank|C11orf83_ENST00000377953.3_Silent_p.*94*			Q6UW78	CK083_HUMAN		0						extracellular region (GO:0005576)				cervix(1)|lung(1)|prostate(1)	3						AGGTCACCGTGAGACCGGACT	0.687																																						uc001nui.3		NaN																	0					0						c.(280-282)TGA>TAA		hypothetical protein LOC790955 precursor							14.0	23.0	20.0					11																	62439585		2128	4212	6340	SO:0001819	synonymous_variant	790955					extracellular region		g.chr11:62439585G>A																												ENST00000531323.1:c.281G>A	11.37:g.62439585G>A						C11orf48_uc001nue.2_5'Flank|C11orf48_uc001nuf.2_5'Flank|C11orf48_uc010rmd.1_5'Flank	p.*94*	NM_001085372	NP_001078841	Q6UW78	CK083_HUMAN			2	373	+			94					Q5FVD5	Silent	SNP	ENST00000531323.1	37	c.281G>A	CCDS41658.1																																																																																				0.687	C11orf83-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394992.2				2	1	0	0	0	0.004672	0	2	1		
BBS1	582	broad.mit.edu	37	11	66299177	66299177	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:66299177G>C	ENST00000318312.7	+	16	1710	c.1659G>C	c.(1657-1659)gaG>gaC	p.E553D	CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.E590D|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.E456D|BBS1_ENST00000393994.2_Missense_Mutation_p.E424D	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	553					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						CCTTTGTGGAGAGTCTCAGTA	0.552									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)	uc001oij.1		NaN																	0				ovary(1)	1						c.(1657-1659)GAG>GAC		Bardet-Biedl syndrome 1							177.0	161.0	167.0					11																	66299177		2200	4295	6495	SO:0001583	missense	582	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding	g.chr11:66299177G>C	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1659G>C	11.37:g.66299177G>C	ENSP00000317469:p.Glu553Asp					BBS1_uc001oii.1_Missense_Mutation_p.E590D|BBS1_uc010rpg.1_Missense_Mutation_p.E456D|BBS1_uc001oik.1_Missense_Mutation_p.E477D|BBS1_uc001oil.1_Missense_Mutation_p.E424D|ZDHHC24_uc001oim.1_Intron|ZDHHC24_uc009yrg.1_Intron|BBS1_uc010rph.1_Missense_Mutation_p.E221D	p.E553D	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN			16	1671	+			553					Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	c.1659G>C	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082655	0.76528	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748;ENST00000393994	D;D;D;D	0.97138	-4.19;-4.26;-4.08;-4.07	5.79	4.88	0.63580	.	.	.	.	.	D	0.97390	0.9146	M	0.80616	2.505	0.80722	D	1	P;D;P;D;P;P	0.56746	0.726;0.972;0.935;0.977;0.911;0.948	B;P;P;P;B;P	0.55391	0.258;0.737;0.775;0.641;0.355;0.475	D	0.96939	0.9686	9	0.56958	D	0.05	.	8.6059	0.33773	0.17:0.0:0.83:0.0	.	228;456;424;441;553;590	B4DH75;E7EQH1;Q32MM9;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;.;.;BBS1_HUMAN;.	D	590;553;456;424	ENSP00000398526:E590D;ENSP00000317469:E553D;ENSP00000405764:E456D;ENSP00000377563:E424D	ENSP00000317469:E553D	E	+	3	2	BBS1;CTD-3074O7.11	66055753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.759000	0.38420	1.452000	0.47756	0.655000	0.94253	GAG		0.552	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2				61	99	0	0	0	0.01441	0	61	99		
PRKRIR	5612	broad.mit.edu	37	11	76062117	76062117	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:76062117C>G	ENST00000260045.3	-	5	2182	c.2077G>C	c.(2077-2079)Gag>Cag	p.E693Q	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	693					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CGCTCATTCTCAACCTTCATC	0.418																																						uc001oxh.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(2077-2079)GAG>CAG		protein-kinase, interferon-inducible double							71.0	69.0	69.0					11																	76062117		2200	4291	6491	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76062117C>G	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.2077G>C	11.37:g.76062117C>G	ENSP00000260045:p.Glu693Gln					PRKRIR_uc010rrz.1_Missense_Mutation_p.E518Q	p.E693Q	NM_004705	NP_004696	O43422	P52K_HUMAN			5	2077	-			693					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.2077G>C	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202102	0.79127	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.23950	1.88;1.88	5.68	5.68	0.88126	HAT dimerisation (1);Ribonuclease H-like (1);	0.135227	0.64402	D	0.000002	T	0.30510	0.0767	L	0.46157	1.445	0.43118	D	0.994833	P	0.44429	0.835	B	0.43251	0.413	T	0.01524	-1.1333	10	0.48119	T	0.1	.	18.5062	0.90898	0.0:1.0:0.0:0.0	.	693	O43422	P52K_HUMAN	Q	518;693	ENSP00000436249:E518Q;ENSP00000260045:E693Q	ENSP00000260045:E693Q	E	-	1	0	PRKRIR	75739765	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.390000	0.66261	2.886000	0.99085	0.644000	0.83932	GAG		0.418	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1		NM_004705		34	20	0	0	0	0.00874	0	34	20		
PRKRIR	5612	broad.mit.edu	37	11	76062585	76062585	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:76062585C>G	ENST00000260045.3	-	5	1714	c.1609G>C	c.(1609-1611)Gag>Cag	p.E537Q	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	537					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						GTGGCTTCCTCAAACCAAAAT	0.428																																						uc001oxh.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(1609-1611)GAG>CAG		protein-kinase, interferon-inducible double							14.0	15.0	15.0					11																	76062585		1968	3864	5832	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76062585C>G	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1609G>C	11.37:g.76062585C>G	ENSP00000260045:p.Glu537Gln					PRKRIR_uc010rrz.1_Missense_Mutation_p.E362Q	p.E537Q	NM_004705	NP_004696	O43422	P52K_HUMAN			5	1609	-			537					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.1609G>C	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351571	0.82132	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	.	.	.	5.13	5.13	0.70059	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.63189	0.2490	M	0.66939	2.045	0.80722	D	1	P	0.50369	0.934	P	0.46885	0.53	T	0.61202	-0.7110	9	0.25106	T	0.35	.	19.1244	0.93376	0.0:1.0:0.0:0.0	.	537	O43422	P52K_HUMAN	Q	362;537	.	ENSP00000260045:E537Q	E	-	1	0	PRKRIR	75740233	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.114000	0.77103	2.607000	0.88179	0.644000	0.83932	GAG		0.428	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1		NM_004705		7	13	0	0	0	0.006214	0	7	13		
TENM4	26011	broad.mit.edu	37	11	78516497	78516497	+	Silent	SNP	G	G	A	rs373351012		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:78516497G>A	ENST00000278550.7	-	15	2481	c.2019C>T	c.(2017-2019)tgC>tgT	p.C673C		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	673	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CGCCTCTCACGCAGACACCCC	0.582																																						uc001ozl.3		NaN																	0				ovary(2)|pancreas(2)	4						c.(2017-2019)TGC>TGT		odz, odd Oz/ten-m homolog 4		G		1,4281		0,1,2140	36.0	41.0	39.0		2019	-1.3	1.0	11		39	0,8490		0,0,4245	no	coding-synonymous	ODZ4	NM_001098816.2		0,1,6385	AA,AG,GG		0.0,0.0234,0.0078		673/2770	78516497	1,12771	2141	4245	6386	SO:0001819	synonymous_variant	26011				signal transduction	integral to membrane		g.chr11:78516497G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.2019C>T	11.37:g.78516497G>A							p.C673C	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			15	2482	-			673			EGF-like 4.|Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.2019C>T	CCDS44688.1																																																																																				0.582	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2				4	12	0	0	0	0.001168	0	4	12		
GRM5	2915	broad.mit.edu	37	11	88780766	88780766	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:88780766C>T	ENST00000305447.4	-	1	424	c.275G>A	c.(274-276)gGc>gAc	p.G92D	GRM5_ENST00000305432.5_Missense_Mutation_p.G92D|GRM5_ENST00000393297.1_Missense_Mutation_p.G92D|GRM5_ENST00000393294.3_Missense_Mutation_p.G92D|GRM5_ENST00000455756.2_Missense_Mutation_p.G92D|GRM5_ENST00000418177.2_Missense_Mutation_p.G92D	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	92					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TATCTCACAGCCCAGTGTGAT	0.522																																						uc001pcq.2		NaN																	0		p.G92R(1)		central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(274-276)GGC>GAC		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						85.0	74.0	78.0					11																	88780766		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780766C>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.275G>A	11.37:g.88780766C>T	ENSP00000306138:p.Gly92Asp					GRM5_uc009yvm.2_Missense_Mutation_p.G92D|GRM5_uc009yvn.1_Missense_Mutation_p.G92D	p.G92D	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			1	475	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	92			Extracellular (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.275G>A	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494550	0.85069	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	5.56	5.56	0.83823	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90007	0.6880	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91847	0.5488	9	.	.	.	.	19.5349	0.95247	0.0:1.0:0.0:0.0	.	92;92;92	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	D	92	ENSP00000402912:G92D;ENSP00000405690:G92D;ENSP00000305905:G92D;ENSP00000306138:G92D;ENSP00000376975:G92D;ENSP00000376972:G92D	.	G	-	2	0	GRM5	88420414	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.687000	0.84139	2.605000	0.88082	0.563000	0.77884	GGC		0.522	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1		NM_000842		10	16	0	0	0	0.003163	0	10	16		
AMOTL1	154810	broad.mit.edu	37	11	94533413	94533413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:94533413C>T	ENST00000433060.2	+	3	1198	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*	AMOTL1_ENST00000317837.9_Nonsense_Mutation_p.Q353*|AMOTL1_ENST00000317829.8_Nonsense_Mutation_p.Q303*	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	353					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCCTGCTCCTCAGCCTGTGAG	0.567																																						uc001pfb.2		NaN																	0				ovary(1)|breast(1)	2						c.(1057-1059)CAG>TAG		angiomotin like 1							103.0	104.0	103.0					11																	94533413		2001	4165	6166	SO:0001587	stop_gained	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94533413C>T	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1057C>T	11.37:g.94533413C>T	ENSP00000387739:p.Gln353*					AMOTL1_uc001pfc.2_Nonsense_Mutation_p.Q303*	p.Q353*	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN			3	1227	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	353					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Nonsense_Mutation	SNP	ENST00000433060.2	37	c.1057C>T	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	C	36	5.965009	0.97151	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	.	.	.	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.0259	18.5608	0.91100	0.0:1.0:0.0:0.0	.	.	.	.	X	303;359;353;353	.	.	Q	+	1	0	AMOTL1	94173061	0.999000	0.42202	1.000000	0.80357	0.968000	0.65278	4.634000	0.61325	2.395000	0.81488	0.555000	0.69702	CAG		0.567	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3		NM_130847		54	99	0	0	0	0.01441	0	54	99		
BIRC3	330	broad.mit.edu	37	11	102195686	102195686	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:102195686G>C	ENST00000263464.3	+	2	3196	c.446G>C	c.(445-447)aGa>aCa	p.R149T	BIRC3_ENST00000532808.1_Missense_Mutation_p.R149T	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	149					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		GTAAACTCCAGAGCAAATCAA	0.393			T	MALT1	MALT																																	uc001pgx.2		NaN		Dom	yes		11	11q22-q23	330	T	baculoviral IAP repeat-containing 3			L	MALT1		MALT		0				ovary(3)|skin(1)	4						c.(445-447)AGA>ACA		baculoviral IAP repeat-containing protein 3							132.0	139.0	136.0					11																	102195686		2203	4299	6502	SO:0001583	missense	330				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102195686G>C	L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.446G>C	11.37:g.102195686G>C	ENSP00000263464:p.Arg149Thr						p.R149T	NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)	3	668	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	149					Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	c.446G>C	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	G	9.231	1.035910	0.19590	.	.	ENSG00000023445	ENST00000263464;ENST00000532808	T;T	0.22945	1.93;1.93	5.4	4.49	0.54785	.	0.264422	0.48286	D	0.000194	T	0.26955	0.0660	L	0.52905	1.665	0.31589	N	0.654153	P	0.42161	0.772	B	0.40864	0.342	T	0.39482	-0.9612	10	0.66056	D	0.02	.	11.3552	0.49611	0.1449:0.0:0.8551:0.0	.	149	Q13489	BIRC3_HUMAN	T	149	ENSP00000263464:R149T;ENSP00000432907:R149T	ENSP00000263464:R149T	R	+	2	0	BIRC3	101700896	0.020000	0.18652	0.077000	0.20336	0.062000	0.15995	1.904000	0.39868	1.521000	0.48983	0.591000	0.81541	AGA		0.393	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1		NM_001165		41	73	0	0	0	0.01441	0	41	73		
DYNC2H1	79659	broad.mit.edu	37	11	102980483	102980483	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:102980483C>G	ENST00000375735.2	+	1	324	c.180C>G	c.(178-180)atC>atG	p.I60M	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.I60M|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.I60M	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	60	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACGCAGGAATCTCCTTTTCCA	0.557																																						uc001pho.2		NaN																	0					0						c.(178-180)ATC>ATG		dynein, cytoplasmic 2, heavy chain 1							80.0	79.0	79.0					11																	102980483		1996	4181	6177	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:102980483C>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.180C>G	11.37:g.102980483C>G	ENSP00000364887:p.Ile60Met					DYNC2H1_uc001phn.1_Missense_Mutation_p.I60M|DYNC2H1_uc009yxe.1_Missense_Mutation_p.I60M	p.I60M	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	1	324	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	60			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.180C>G	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	4.277	0.050467	0.08243	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.33216	1.61;1.42;1.61	5.71	0.432	0.16529	.	0.530450	0.15353	U	0.266847	T	0.20088	0.0483	L	0.29908	0.895	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.12156	0.005;0.002;0.007	T	0.17501	-1.0367	10	0.51188	T	0.08	.	7.6725	0.28468	0.0:0.4751:0.3348:0.1901	.	60;60;60	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	M	60	ENSP00000364887:I60M;ENSP00000334021:I60M;ENSP00000381167:I60M	ENSP00000334021:I60M	I	+	3	3	DYNC2H1	102485693	0.001000	0.12720	0.004000	0.12327	0.110000	0.19582	-0.162000	0.10012	-0.165000	0.10908	-0.194000	0.12790	ATC		0.557	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1		XM_370652		27	21	0	0	0	0.012213	0	27	21		
EXPH5	23086	broad.mit.edu	37	11	108383904	108383904	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:108383904T>A	ENST00000265843.4	-	6	2440	c.2330A>T	c.(2329-2331)gAt>gTt	p.D777V	EXPH5_ENST00000525344.1_Missense_Mutation_p.D770V|EXPH5_ENST00000443411.1_Missense_Mutation_p.D589V|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000428840.1_Missense_Mutation_p.D701V	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	777			D -> N (in dbSNP:rs3741048).		intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTTGGAGGTATCTTTCCTGGA	0.388																																						uc001pkk.2		NaN																	0				skin(3)|ovary(2)	5						c.(2329-2331)GAT>GTT		exophilin 5 isoform a							118.0	128.0	125.0					11																	108383904		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108383904T>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.2330A>T	11.37:g.108383904T>A	ENSP00000265843:p.Asp777Val					EXPH5_uc010rvy.1_Missense_Mutation_p.D589V|EXPH5_uc010rvz.1_Missense_Mutation_p.D621V|EXPH5_uc010rwa.1_Missense_Mutation_p.D701V	p.D777V	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	2441	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	777					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.2330A>T	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.527473	0.44969	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.08458	3.64;3.56;3.42;3.64;3.45;3.09	5.63	4.51	0.55191	.	0.277739	0.31071	N	0.008320	T	0.22085	0.0532	M	0.67953	2.075	0.44611	D	0.997586	D	0.67145	0.996	D	0.64410	0.925	T	0.00446	-1.1734	10	0.72032	D	0.01	-6.7642	8.7455	0.34583	0.0:0.0883:0.0:0.9117	.	777	Q8NEV8	EXPH5_HUMAN	V	777;701;589;770;701;589	ENSP00000265843:D777V;ENSP00000391966:D701V;ENSP00000411390:D589V;ENSP00000432546:D770V;ENSP00000432683:D701V;ENSP00000446434:D589V	ENSP00000265843:D777V	D	-	2	0	EXPH5	107889114	0.994000	0.37717	0.616000	0.29078	0.242000	0.25591	2.916000	0.48813	1.084000	0.41184	0.460000	0.39030	GAT		0.388	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1		NM_015065		34	52	0	0	0	0.01441	0	34	52		
C11orf57	55216	broad.mit.edu	37	11	111946331	111946331	+	Silent	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:111946331G>T	ENST00000280352.9	+	2	669	c.33G>T	c.(31-33)ctG>ctT	p.L11L	PIH1D2_ENST00000530641.1_5'Flank|PIH1D2_ENST00000431456.1_5'Flank|C11orf57_ENST00000532163.1_5'UTR|C11orf57_ENST00000393047.3_Silent_p.L11L|C11orf57_ENST00000420986.2_Silent_p.L11L|PIH1D2_ENST00000280350.4_5'Flank|PIH1D2_ENST00000521853.2_5'Flank|PIH1D2_ENST00000532211.1_5'Flank|C11orf57_ENST00000530104.1_Silent_p.L11L|PIH1D2_ENST00000528775.1_5'Flank	NM_001082970.1|NM_018195.3	NP_001076439.1|NP_060665.3	Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	11										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		AGGTCCTCCTGAGGAATGTCA	0.413																																						uc001pmr.3		NaN																	0				breast(2)|ovary(1)	3						c.(31-33)CTG>CTT		hypothetical protein LOC55216 isoform b							64.0	62.0	63.0					11																	111946331		1887	4111	5998	SO:0001819	synonymous_variant	55216							g.chr11:111946331G>T	BX538107	CCDS8356.2, CCDS41715.1, CCDS73383.1	11q23.1	2006-03-09			ENSG00000150776	ENSG00000150776			25569	protein-coding gene	gene with protein product						12477932	Standard	NM_001082970		Approved	FLJ10726	uc001pmw.4	Q6ZUT1	OTTHUMG00000150213	ENST00000280352.9:c.33G>T	11.37:g.111946331G>T						PIH1D2_uc009yyl.2_5'Flank|PIH1D2_uc001pmq.3_5'Flank|PIH1D2_uc001pmp.3_5'Flank|PIH1D2_uc010rws.1_5'Flank|C11orf57_uc001pmu.2_Silent_p.L11L|C11orf57_uc001pmw.3_Silent_p.L11L|C11orf57_uc001pmt.3_Silent_p.L11L|C11orf57_uc001pmv.3_Silent_p.L11L|C11orf57_uc001pms.3_5'UTR	p.L11L	NM_001082970	NP_001076439	Q6ZUT1	CK057_HUMAN		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)	2	714	+		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	11					Q5RL41|Q6IN53|Q7Z357|Q8N2T3	Silent	SNP	ENST00000280352.9	37	c.33G>T	CCDS41715.1																																																																																				0.413	C11orf57-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316852.1		NM_018195		22	25	1	0	6.07407e-21	0.007291	6.52401e-21	22	25		
IFT46	56912	broad.mit.edu	37	11	118416128	118416128	+	Nonsense_Mutation	SNP	G	G	C	rs45508996		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:118416128G>C	ENST00000264021.3	-	11	1233	c.815C>G	c.(814-816)tCa>tGa	p.S272*	TMEM25_ENST00000354284.4_Intron|TMEM25_ENST00000442938.2_Intron|IFT46_ENST00000264020.2_Nonsense_Mutation_p.S323*|IFT46_ENST00000530872.1_Intron	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	272					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						GCTCACCTGTGAGTTCTTGAA	0.458																																						uc001ptp.1		NaN																	0					0						c.(814-816)TCA>TGA		IFT46							132.0	135.0	134.0					11																	118416128		2200	4295	6495	SO:0001587	stop_gained	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118416128G>C	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.815C>G	11.37:g.118416128G>C	ENSP00000264021:p.Ser272*					TMEM25_uc001ptl.2_Intron|TMEM25_uc001ptm.2_Intron|TMEM25_uc001ptn.2_Intron|IFT46_uc001pto.1_Nonsense_Mutation_p.S323*|IFT46_uc009zaf.1_Intron	p.S272*	NM_020153	NP_064538	Q9NQC8	IFT46_HUMAN			11	1193	-			272					A8K0F6|Q9H6V5	Nonsense_Mutation	SNP	ENST00000264021.3	37	c.815C>G	CCDS53718.1	.	.	.	.	.	.	.	.	.	.	G	37	6.385241	0.97524	.	.	ENSG00000118096	ENST00000264021;ENST00000264020	.	.	.	6.03	6.03	0.97812	.	0.061208	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.747	20.5666	0.99351	0.0:0.0:1.0:0.0	.	.	.	.	X	272;323	.	ENSP00000264020:S323X	S	-	2	0	IFT46	117921338	1.000000	0.71417	0.999000	0.59377	0.517000	0.34286	5.606000	0.67641	2.854000	0.98071	0.655000	0.94253	TCA		0.458	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1		NM_020153		56	47	0	0	0	0.01441	0	56	47		
HINFP	25988	broad.mit.edu	37	11	119003647	119003647	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:119003647G>T	ENST00000350777.2	+	8	1012	c.949G>T	c.(949-951)Gag>Tag	p.E317*	HINFP_ENST00000527410.1_Nonsense_Mutation_p.E317*	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	317					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTGTGATTTTGAGAACTGCAC	0.517																																						uc001pvp.2		NaN																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(949-951)GAG>TAG		MBD2 (methyl-CpG-binding protein)-interacting							104.0	99.0	100.0					11																	119003647		2200	4295	6495	SO:0001587	stop_gained	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119003647G>T	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.949G>T	11.37:g.119003647G>T	ENSP00000318085:p.Glu317*					HINFP_uc001pvq.2_Nonsense_Mutation_p.E317*|HINFP_uc001pvr.2_Nonsense_Mutation_p.E70*	p.E317*	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN			9	1138	+			317			C2H2-type 8.		B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Nonsense_Mutation	SNP	ENST00000350777.2	37	c.949G>T	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150890	0.94645	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	.	.	.	5.51	4.59	0.56863	.	0.227332	0.45606	D	0.000359	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-18.8339	13.7314	0.62789	0.0737:0.0:0.9263:0.0	.	.	.	.	X	317	.	ENSP00000318085:E317X	E	+	1	0	HINFP	118508857	0.992000	0.36948	0.956000	0.39512	0.980000	0.70556	2.116000	0.41930	2.605000	0.88082	0.655000	0.94253	GAG		0.517	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2		NM_015517		19	42	1	0	1.00905e-13	0.008871	1.06751e-13	19	42		
HSPA8	3312	broad.mit.edu	37	11	122931883	122931883	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:122931883C>T	ENST00000532636.1	-	2	269	c.150G>A	c.(148-150)ttG>ttA	p.L50L	HSPA8_ENST00000453788.2_Silent_p.L50L|HSPA8_ENST00000533540.1_Silent_p.L50L|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000526110.1_Silent_p.L50L|HSPA8_ENST00000534319.1_5'Flank|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Silent_p.L50L|HSPA8_ENST00000534624.1_Silent_p.L50L			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	50					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CATCACCGATCAACCGTTCAG	0.448																																					Colon(21;486 594 5900 6733 14272)	uc001pyo.2		NaN																	0				central_nervous_system(7)|lung(1)	8						c.(148-150)TTG>TTA		heat shock 70kDa protein 8 isoform 1							92.0	77.0	82.0					11																	122931883		2202	4299	6501	SO:0001819	synonymous_variant	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122931883C>T	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.150G>A	11.37:g.122931883C>T						HSPA8_uc009zbc.2_5'Flank|HSPA8_uc001pyp.2_Silent_p.L50L|HSPA8_uc010rzu.1_Silent_p.L50L|HSPA8_uc009zbd.1_Silent_p.L50L|HSPA8_uc010rzv.1_Silent_p.L50L	p.L50L	NM_006597	NP_006588	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	2	228	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	50					Q9H3R6	Silent	SNP	ENST00000532636.1	37	c.150G>A	CCDS8440.1																																																																																				0.448	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1				15	33	0	0	0	0.008871	0	15	33		
OR10G8	219869	broad.mit.edu	37	11	123900527	123900527	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:123900527C>T	ENST00000431524.1	+	1	231	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	66						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(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		ACCTGTCGTTCATTGACATGT	0.542																																						uc001pzp.1		NaN																	0				ovary(1)|skin(1)	2						c.(196-198)TTC>TTT		olfactory receptor, family 10, subfamily G,							254.0	202.0	220.0					11																	123900527		2201	4299	6500	SO:0001819	synonymous_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900527C>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.198C>T	11.37:g.123900527C>T							p.F66F	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	198	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	66			Helical; Name=2; (Potential).		B2RNJ3|Q6IEV2	Silent	SNP	ENST00000431524.1	37	c.198C>T	CCDS31704.1																																																																																				0.542	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1		NM_001004464		48	101	0	0	0	0.01441	0	48	101		
KIRREL3	84623	broad.mit.edu	37	11	126294664	126294664	+	Silent	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:126294664G>T	ENST00000525144.2	-	17	2397	c.2148C>A	c.(2146-2148)ctC>ctA	p.L716L	KIRREL3_ENST00000529097.2_Silent_p.L704L|KIRREL3_ENST00000416561.2_Silent_p.L183L	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	716	Ser-rich.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TGCTGTCGCTGAGGGAGCCTC	0.632																																						uc001qea.2		NaN																	0				ovary(3)	3						c.(2146-2148)CTC>CTA		kin of IRRE like 3 isoform 1							73.0	82.0	79.0					11																	126294664		2174	4278	6452	SO:0001819	synonymous_variant	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126294664G>T	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.2148C>A	11.37:g.126294664G>T						KIRREL3_uc001qeb.2_Silent_p.L704L|ST3GAL4_uc001qdx.1_Intron	p.L716L	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	17	2509	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	716			Cytoplasmic (Potential).|Ser-rich.		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	37	c.2148C>A	CCDS53723.1																																																																																				0.632	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2		NM_032531		11	27	1	0	2.27111e-07	0.013537	2.35717e-07	11	27		
ST14	6768	broad.mit.edu	37	11	130058506	130058506	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:130058506C>T	ENST00000278742.5	+	3	741	c.323C>T	c.(322-324)tCc>tTc	p.S108F		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	108	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TACGAGAACTCCAACTCCACT	0.562																																						uc001qfw.2		NaN																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(322-324)TCC>TTC		matriptase	Urokinase(DB00013)						111.0	100.0	104.0					11																	130058506		2201	4297	6498	SO:0001583	missense	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130058506C>T	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.323C>T	11.37:g.130058506C>T	ENSP00000278742:p.Ser108Phe					ST14_uc010sca.1_5'Flank	p.S108F	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	3	516	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	108			Extracellular (Potential).		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	c.323C>T	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591697	0.86953	.	.	ENSG00000149418	ENST00000278742	T	0.35048	1.33	5.54	5.54	0.83059	SEA (1);	0.236346	0.21974	N	0.066418	T	0.60689	0.2288	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.62324	-0.6878	10	0.66056	D	0.02	.	17.2464	0.87029	0.0:1.0:0.0:0.0	.	108	Q9Y5Y6	ST14_HUMAN	F	108	ENSP00000278742:S108F	ENSP00000278742:S108F	S	+	2	0	ST14	129563716	1.000000	0.71417	0.981000	0.43875	0.870000	0.49936	6.548000	0.73896	2.594000	0.87642	0.655000	0.94253	TCC		0.562	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1				23	50	0	0	0	0.008361	0	23	50		
ST14	6768	broad.mit.edu	37	11	130066275	130066275	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:130066275C>T	ENST00000278742.5	+	10	1573	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	385	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TCAAATTCTTCTACCTGCTGG	0.632																																						uc001qfw.2		NaN																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1153-1155)TTC>TTT		matriptase	Urokinase(DB00013)						65.0	53.0	57.0					11																	130066275		2201	4297	6498	SO:0001819	synonymous_variant	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130066275C>T	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1155C>T	11.37:g.130066275C>T						ST14_uc010sca.1_Silent_p.F195F	p.F385F	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	10	1348	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	385			CUB 2.|Extracellular (Potential).		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	c.1155C>T	CCDS8487.1																																																																																				0.632	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1				6	7	0	0	0	0.006214	0	6	7		
NTM	50863	broad.mit.edu	37	11	132184470	132184470	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:132184470G>A	ENST00000374786.1	+	6	1286	c.807G>A	c.(805-807)gtG>gtA	p.V269V	NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Silent_p.V269V|NTM_ENST00000427481.2_Silent_p.V260V|NTM_ENST00000539799.1_Silent_p.V269V|NTM_ENST00000374791.3_Silent_p.V269V|NTM_ENST00000425719.2_Silent_p.V269V	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	269	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGAAAGGGGTGAAAGTGGAAA	0.433																																						uc001qgp.2		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(805-807)GTG>GTA		neurotrimin isoform 1							95.0	86.0	89.0					11																	132184470		2201	4297	6498	SO:0001819	synonymous_variant	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132184470G>A	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.807G>A	11.37:g.132184470G>A						NTM_uc001qgm.2_Silent_p.V269V|NTM_uc010sch.1_Silent_p.V260V|NTM_uc010sci.1_Silent_p.V269V|NTM_uc010scj.1_Silent_p.V228V|NTM_uc001qgo.2_Silent_p.V269V|NTM_uc001qgq.2_Silent_p.V269V|NTM_uc001qgr.2_Silent_p.V51V	p.V269V	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			6	1471	+			269			Ig-like C2-type 3.		A0MTT2|Q6UXJ3|Q86VJ9	Silent	SNP	ENST00000374786.1	37	c.807G>A	CCDS8491.1																																																																																				0.433	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1		NM_016522		3	22	0	0	0	0.004672	0	3	22		
C1S	716	broad.mit.edu	37	12	7177945	7177945	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:7177945G>A	ENST00000406697.1	+	15	2685	c.2057G>A	c.(2056-2058)cGt>cAt	p.R686H	C1S_ENST00000328916.3_Missense_Mutation_p.R686H|C1S_ENST00000402681.3_Missense_Mutation_p.R519H|C1S_ENST00000360817.5_Missense_Mutation_p.R686H			P09871	C1S_HUMAN	complement component 1, s subcomponent	686					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)	p.R686H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AGCACCCCCCGTGAGGACTAA	0.483																																					GBM(156;750 1943 12971 24779 31015)	uc001qsj.2		NaN																	1	Substitution - Missense(1)		prostate(1)	skin(1)	1						c.(2056-2058)CGT>CAT		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						55.0	61.0	59.0					12																	7177945		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177945G>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.2057G>A	12.37:g.7177945G>A	ENSP00000385035:p.Arg686His					C1S_uc001qsk.2_Missense_Mutation_p.R686H|C1S_uc001qsl.2_Missense_Mutation_p.R686H|C1S_uc009zfr.2_Missense_Mutation_p.R519H|C1S_uc009zfs.2_RNA	p.R686H	NM_201442	NP_958850	P09871	C1S_HUMAN			15	2776	+			686					D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.2057G>A	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	g	12.47	1.947774	0.34377	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	D;D;D;D	0.85171	-1.94;-1.94;-1.94;-1.95	5.16	-4.82	0.03171	.	1.291780	0.05420	N	0.544001	T	0.60011	0.2236	N	0.08118	0	0.09310	N	1	P	0.42556	0.783	B	0.31101	0.124	T	0.58831	-0.7567	10	0.45353	T	0.12	.	1.5884	0.02649	0.4139:0.245:0.2167:0.1245	.	686	P09871	C1S_HUMAN	H	686;686;686;680;519	ENSP00000385035:R686H;ENSP00000328173:R686H;ENSP00000354057:R686H;ENSP00000384171:R519H	ENSP00000328173:R686H	R	+	2	0	C1S	7048206	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.237000	0.08990	-0.841000	0.04200	-0.215000	0.12644	CGT		0.483	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1		NM_001734		45	71	0	0	0	0.01441	0	45	71		
C12orf60	144608	broad.mit.edu	37	12	14975926	14975926	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:14975926C>T	ENST00000330828.2	+	2	261	c.57C>T	c.(55-57)ttC>ttT	p.F19F	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	19										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						CCAAAATGTTCTTCTTTCATG	0.368																																						uc001rcj.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(55-57)TTC>TTT		hypothetical protein LOC144608							92.0	91.0	91.0					12																	14975926		2203	4300	6503	SO:0001819	synonymous_variant	144608							g.chr12:14975926C>T	BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.57C>T	12.37:g.14975926C>T							p.F19F	NM_175874	NP_787070	Q5U649	CL060_HUMAN			2	261	+			19					A8K1M7|Q5XKK8|Q8IXY2	Silent	SNP	ENST00000330828.2	37	c.57C>T	CCDS8667.1																																																																																				0.368	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394735.1		NM_175874		27	48	0	0	0	0.00632	0	27	48		
PLEKHA5	54477	broad.mit.edu	37	12	19427759	19427759	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:19427759C>G	ENST00000299275.6	+	10	1143	c.1137C>G	c.(1135-1137)gtC>gtG	p.V379V	PLEKHA5_ENST00000359180.3_Silent_p.V379V|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000429027.2_Silent_p.V385V|PLEKHA5_ENST00000355397.3_Silent_p.V379V|PLEKHA5_ENST00000317589.4_Silent_p.V379V|PLEKHA5_ENST00000539256.1_Silent_p.V137V|PLEKHA5_ENST00000424268.1_Silent_p.V271V|PLEKHA5_ENST00000538714.1_Silent_p.V379V|PLEKHA5_ENST00000543806.1_Silent_p.V271V|PLEKHA5_ENST00000309364.4_Silent_p.V379V	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	379					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ACAAAATAGTCAATGTTAGCC	0.468																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.2		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(1135-1137)GTC>GTG		pleckstrin homology domain containing, family A							66.0	73.0	70.0					12																	19427759		2203	4300	6503	SO:0001819	synonymous_variant	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19427759C>G	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1137C>G	12.37:g.19427759C>G						PLEKHA5_uc010sie.1_Silent_p.V385V|PLEKHA5_uc001rea.2_Silent_p.V379V|PLEKHA5_uc009zin.2_Silent_p.V137V|PLEKHA5_uc010sif.1_Silent_p.V271V|PLEKHA5_uc010sig.1_Silent_p.V271V|PLEKHA5_uc010sih.1_Silent_p.V271V|PLEKHA5_uc001rec.1_Silent_p.V67V	p.V379V	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			10	1223	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		379					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Silent	SNP	ENST00000299275.6	37	c.1137C>G	CCDS8682.1																																																																																				0.468	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1		NM_019012		29	60	0	0	0	0.009535	0	29	60		
CAPRIN2	65981	broad.mit.edu	37	12	30906540	30906540	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:30906540G>A	ENST00000395805.2	-	1	705	c.158C>T	c.(157-159)tCa>tTa	p.S53L	RP11-77I22.2_ENST00000500076.2_lincRNA|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.S53L|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.S53L|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.S53L	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TGAAACAGATGAGGCTGAAGG	0.463											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rji.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(157-159)TCA>TTA		C1q domain containing 1 isoform 1							94.0	94.0	94.0					12																	30906540		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30906540G>A	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.158C>T	12.37:g.30906540G>A	ENSP00000379150:p.Ser53Leu		OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	820	CAPRIN2_uc001rjg.1_5'Flank|CAPRIN2_uc001rjh.1_Missense_Mutation_p.S53L|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjk.3_Missense_Mutation_p.S53L|CAPRIN2_uc001rjl.3_Missense_Mutation_p.S53L	p.S53L	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN			1	909	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		53						Missense_Mutation	SNP	ENST00000395805.2	37	c.158C>T	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	g	15.18	2.758161	0.49468	.	.	ENSG00000110888	ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045	T;T;T;T	0.73258	-0.73;2.75;-0.7;2.75	5.38	4.49	0.54785	.	0.429079	0.19172	N	0.120907	T	0.53351	0.1791	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.17667	0.014;0.023;0.005;0.008	B;B;B;B	0.23018	0.011;0.043;0.006;0.015	T	0.46233	-0.9206	10	0.29301	T	0.29	-4.2459	11.4155	0.49949	0.1452:0.0:0.8548:0.0	.	53;53;53;53	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2	.;.;CAPR2_HUMAN;.	L	53	ENSP00000298892:S53L;ENSP00000379150:S53L;ENSP00000251071:S53L;ENSP00000391479:S53L	ENSP00000251071:S53L	S	-	2	0	CAPRIN2	30797807	0.938000	0.31826	0.975000	0.42487	0.730000	0.41778	1.618000	0.36954	1.285000	0.44548	-0.119000	0.15052	TCA		0.463	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2		NM_023925		46	50	0	0	0	0.01441	0	46	50		
DENND5B	160518	broad.mit.edu	37	12	31540565	31540565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:31540565C>T	ENST00000389082.5	-	21	4061	c.3797G>A	c.(3796-3798)gGa>gAa	p.G1266E	DENND5B_ENST00000306833.6_Missense_Mutation_p.G1301E|DENND5B_ENST00000536562.1_Missense_Mutation_p.G1301E	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1266	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)			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						GATGAGTGATCCTTCTAGGAC	0.498																																						uc001rki.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3796-3798)GGA>GAA		DENN/MADD domain containing 5B							94.0	88.0	90.0					12																	31540565		1941	4148	6089	SO:0001583	missense	160518					integral to membrane		g.chr12:31540565C>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.3797G>A	12.37:g.31540565C>T	ENSP00000373734:p.Gly1266Glu					DENND5B_uc001rkh.1_Missense_Mutation_p.G1301E|DENND5B_uc009zjq.1_Intron	p.G1266E	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			21	3983	-			1266			RUN 2.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.3797G>A	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598304	0.46318	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.12039	2.72;2.72;2.72	4.98	4.98	0.66077	RUN (1);	0.360695	0.26341	N	0.024931	T	0.16428	0.0395	L	0.36672	1.1	0.49915	D	0.99983	B;B	0.33345	0.409;0.356	B;B	0.38755	0.281;0.185	T	0.04737	-1.0930	10	0.33940	T	0.23	-21.0892	18.4229	0.90597	0.0:1.0:0.0:0.0	.	1266;1301	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	E	1266;1301;1301	ENSP00000373734:G1266E;ENSP00000306482:G1301E;ENSP00000444889:G1301E	ENSP00000306482:G1301E	G	-	2	0	DENND5B	31431832	1.000000	0.71417	0.966000	0.40874	0.963000	0.63663	5.938000	0.70170	2.597000	0.87782	0.591000	0.81541	GGA		0.498	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1		NM_144973		20	33	0	0	0	0.00632	0	20	33		
DENND5B	160518	broad.mit.edu	37	12	31540607	31540607	+	Missense_Mutation	SNP	C	C	T	rs369858605		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:31540607C>T	ENST00000389082.5	-	21	4019	c.3755G>A	c.(3754-3756)cGa>cAa	p.R1252Q	DENND5B_ENST00000306833.6_Missense_Mutation_p.R1287Q|DENND5B_ENST00000536562.1_Missense_Mutation_p.R1287Q	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1252	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)			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						CTGCAGAATTCGGATAAGGGA	0.488																																						uc001rki.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3754-3756)CGA>CAA		DENN/MADD domain containing 5B		C	GLN/ARG	1,3963		0,1,1981	107.0	100.0	102.0		3755	5.0	1.0	12		102	0,8314		0,0,4157	no	missense	DENND5B	NM_144973.3	43	0,1,6138	TT,TC,CC		0.0,0.0252,0.0081	benign	1252/1275	31540607	1,12277	1982	4157	6139	SO:0001583	missense	160518					integral to membrane		g.chr12:31540607C>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.3755G>A	12.37:g.31540607C>T	ENSP00000373734:p.Arg1252Gln					DENND5B_uc001rkh.1_Missense_Mutation_p.R1287Q|DENND5B_uc009zjq.1_Intron	p.R1252Q	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			21	3941	-			1252			RUN 2.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.3755G>A	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878789	0.51801	2.52E-4	0.0	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.29142	1.58;1.58;1.58	4.98	4.98	0.66077	RUN (3);	0.157591	0.42821	D	0.000642	T	0.24509	0.0594	L	0.41079	1.255	0.80722	D	1	B;B	0.28378	0.209;0.174	B;B	0.20577	0.03;0.017	T	0.06588	-1.0818	10	0.08179	T	0.78	-22.7112	18.4229	0.90597	0.0:1.0:0.0:0.0	.	1252;1287	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	Q	1252;1287;1287	ENSP00000373734:R1252Q;ENSP00000306482:R1287Q;ENSP00000444889:R1287Q	ENSP00000306482:R1287Q	R	-	2	0	DENND5B	31431874	1.000000	0.71417	0.981000	0.43875	0.973000	0.67179	7.416000	0.80143	2.597000	0.87782	0.591000	0.81541	CGA		0.488	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1		NM_144973		16	29	0	0	0	0.006122	0	16	29		
DENND5B	160518	broad.mit.edu	37	12	31540637	31540637	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:31540637C>G	ENST00000389082.5	-	21	3989	c.3725G>C	c.(3724-3726)cGa>cCa	p.R1242P	DENND5B_ENST00000306833.6_Missense_Mutation_p.R1277P|DENND5B_ENST00000536562.1_Missense_Mutation_p.R1277P	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1242	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)			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						CATGCGGTCTCGCAGGAGAGC	0.498																																						uc001rki.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3724-3726)CGA>CCA		DENN/MADD domain containing 5B							101.0	96.0	98.0					12																	31540637		2018	4179	6197	SO:0001583	missense	160518					integral to membrane		g.chr12:31540637C>G	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.3725G>C	12.37:g.31540637C>G	ENSP00000373734:p.Arg1242Pro					DENND5B_uc001rkh.1_Missense_Mutation_p.R1277P|DENND5B_uc009zjq.1_Intron	p.R1242P	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			21	3911	-			1242			RUN 2.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.3725G>C	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853816	0.71719	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.14144	2.53;2.53;2.53	4.98	4.98	0.66077	RUN (3);	0.090457	0.45361	D	0.000368	T	0.37128	0.0992	M	0.68593	2.085	0.58432	D	0.999996	D;D	0.67145	0.996;0.995	D;D	0.71656	0.974;0.956	T	0.10567	-1.0624	10	0.72032	D	0.01	-8.4323	18.4229	0.90597	0.0:1.0:0.0:0.0	.	1242;1277	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	P	1242;1277;1277	ENSP00000373734:R1242P;ENSP00000306482:R1277P;ENSP00000444889:R1277P	ENSP00000306482:R1277P	R	-	2	0	DENND5B	31431904	0.207000	0.23482	0.998000	0.56505	0.987000	0.75469	1.457000	0.35212	2.597000	0.87782	0.591000	0.81541	CGA		0.498	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1		NM_144973		22	28	0	0	0	0.00632	0	22	28		
DIP2B	57609	broad.mit.edu	37	12	51072628	51072628	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:51072628G>A	ENST00000301180.5	+	8	1117	c.1083G>A	c.(1081-1083)atG>atA	p.M361I		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	361						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CACTGGACATGACAGGGAAAC	0.468																																						uc001rwv.2		NaN																	0				ovary(4)|breast(1)|pancreas(1)	6						c.(1081-1083)ATG>ATA		DIP2 disco-interacting protein 2 homolog B							74.0	70.0	71.0					12																	51072628		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51072628G>A	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.1083G>A	12.37:g.51072628G>A	ENSP00000301180:p.Met361Ile					DIP2B_uc001rwu.2_Missense_Mutation_p.M361I|DIP2B_uc009zls.1_Missense_Mutation_p.M243I	p.M361I	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			8	1239	+			361					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.1083G>A	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995444	0.35226	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.41065	1.01	4.88	1.79	0.24919	.	0.105407	0.64402	D	0.000004	T	0.15349	0.0370	N	0.03608	-0.345	0.27765	N	0.943675	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07028	-1.0794	10	0.39692	T	0.17	-5.8652	2.2127	0.03952	0.1665:0.2085:0.4447:0.1803	.	361;371	Q9P265;E9PHD6	DIP2B_HUMAN;.	I	371;361	ENSP00000301180:M361I	ENSP00000301180:M361I	M	+	3	0	DIP2B	49358895	0.998000	0.40836	0.736000	0.30914	0.922000	0.55478	0.570000	0.23653	0.740000	0.32651	0.467000	0.42956	ATG		0.468	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1		NM_173602		30	56	0	0	0	0.005524	0	30	56		
KRT6C	286887	broad.mit.edu	37	12	52865237	52865237	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:52865237C>T	ENST00000252250.6	-	4	927	c.880G>A	c.(880-882)Gag>Aag	p.E294K		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	294	Coil 1B.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		AAGTTGATCTCATCTGTGAGA	0.488																																						uc001sal.3		NaN																	0				ovary(2)	2						c.(880-882)GAG>AAG		keratin 6C							191.0	167.0	175.0					12																	52865237		2203	4300	6503	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52865237C>T	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.880G>A	12.37:g.52865237C>T	ENSP00000252250:p.Glu294Lys						p.E294K	NM_173086	NP_775109	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	4	928	-			294			Coil 1B.|Rod.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.880G>A	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	C	35	5.495845	0.96355	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.93019	-3.15	3.33	3.33	0.38152	Filament (1);	0.103989	0.41712	D	0.000831	D	0.97489	0.9178	H	0.95816	3.725	0.47737	D	0.999505	D	0.76494	0.999	D	0.75020	0.985	D	0.98816	1.0745	10	0.87932	D	0	.	15.1818	0.72965	0.0:1.0:0.0:0.0	.	294	P48668	K2C6C_HUMAN	K	294;279	ENSP00000252250:E294K	ENSP00000252250:E294K	E	-	1	0	KRT6C	51151504	1.000000	0.71417	0.894000	0.35097	0.669000	0.39330	7.472000	0.80996	1.848000	0.53677	0.448000	0.29417	GAG		0.488	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1		NM_173086		42	74	0	0	0	0.01441	0	42	74		
KRT79	338785	broad.mit.edu	37	12	53227586	53227586	+	Silent	SNP	G	G	A	rs376301539		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:53227586G>A	ENST00000330553.5	-	1	493	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	153	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGAAGGAGGCGAACTTGTTGT	0.607																																						uc001sbb.2		NaN																	0				ovary(2)|skin(2)	4						c.(457-459)TTC>TTT		keratin 6L		G		3,4403	6.2+/-15.9	0,3,2200	128.0	126.0	127.0		459	-8.5	0.4	12		127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT79	NM_175834.2		0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308		153/536	53227586	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	338785					keratin filament	structural molecule activity	g.chr12:53227586G>A	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.459C>T	12.37:g.53227586G>A							p.F153F	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			1	492	-			153			Rod.|Coil 1A.		Q6P465|Q7Z793	Silent	SNP	ENST00000330553.5	37	c.459C>T	CCDS8839.1																																																																																				0.607	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1		NM_175834		81	122	0	0	0	0.01441	0	81	122		
KRT79	338785	broad.mit.edu	37	12	53227664	53227664	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:53227664G>C	ENST00000330553.5	-	1	415	c.381C>G	c.(379-381)ctC>ctG	p.L127L		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	127	Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTCCACATGGAGGGGGGTCA	0.602																																						uc001sbb.2		NaN																	0				ovary(2)|skin(2)	4						c.(379-381)CTC>CTG		keratin 6L							88.0	90.0	90.0					12																	53227664		2203	4300	6503	SO:0001819	synonymous_variant	338785					keratin filament	structural molecule activity	g.chr12:53227664G>C	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.381C>G	12.37:g.53227664G>C							p.L127L	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			1	414	-			127			Head.		Q6P465|Q7Z793	Silent	SNP	ENST00000330553.5	37	c.381C>G	CCDS8839.1																																																																																				0.602	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1		NM_175834		46	70	0	0	0	0.01441	0	46	70		
GDF11	10220	broad.mit.edu	37	12	56137466	56137466	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:56137466C>G	ENST00000257868.5	+	1	403	c.366C>G	c.(364-366)gaC>gaG	p.D122E		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	122					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						TCCAGGGCGACGCGCTGCAGC	0.667																																						uc001shq.2		NaN																	0				kidney(1)	1						c.(364-366)GAC>GAG		growth differentiation factor 11 precursor							25.0	30.0	29.0					12																	56137466		2195	4281	6476	SO:0001583	missense	10220				growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:56137466C>G	AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.366C>G	12.37:g.56137466C>G	ENSP00000257868:p.Asp122Glu					GDF11_uc010spv.1_Missense_Mutation_p.D122E	p.D122E	NM_005811	NP_005802	O95390	GDF11_HUMAN			1	403	+			122					Q9UID1|Q9UID2	Missense_Mutation	SNP	ENST00000257868.5	37	c.366C>G	CCDS8891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.052563|4.052563	0.75960|0.75960	.|.	.|.	ENSG00000135414|ENSG00000135414	ENST00000257868|ENST00000546799	T|.	0.63744|.	-0.06|.	2.8|2.8	0.928|0.928	0.19443|0.19443	Transforming growth factor-beta, N-terminal (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.58652|0.58652	0.2137|0.2137	M|M	0.64404|0.64404	1.975|1.975	0.40761|0.40761	D|D	0.983002|0.983002	D|.	0.55385|.	0.971|.	P|.	0.61800|.	0.894|.	T|T	0.54214|0.54214	-0.8327|-0.8327	10|5	0.12103|.	T|.	0.63|.	-10.9151|-10.9151	6.8169|6.8169	0.23835|0.23835	0.0:0.7455:0.0:0.2545|0.0:0.7455:0.0:0.2545	.|.	122|.	O95390|.	GDF11_HUMAN|.	E|R	122|95	ENSP00000257868:D122E|.	ENSP00000257868:D122E|.	D|T	+|+	3|2	2|0	GDF11|GDF11	54423733|54423733	0.996000|0.996000	0.38824|0.38824	0.999000|0.999000	0.59377|0.59377	0.986000|0.986000	0.74619|0.74619	0.781000|0.781000	0.26774|0.26774	0.255000|0.255000	0.21593|0.21593	0.456000|0.456000	0.33151|0.33151	GAC|ACG		0.667	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3				24	19	0	0	0	0.00632	0	24	19		
DGKA	1606	broad.mit.edu	37	12	56345848	56345848	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:56345848C>T	ENST00000331886.5	+	19	2071	c.1617C>T	c.(1615-1617)atC>atT	p.I539I	DGKA_ENST00000551156.1_Silent_p.I539I|DGKA_ENST00000394147.1_Silent_p.I539I|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	539					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GATTCCACATCATGCGAGAGA	0.522																																						uc001sij.2		NaN																	0				ovary(3)|pancreas(1)	4						c.(1615-1617)ATC>ATT		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						108.0	97.0	100.0					12																	56345848		2203	4300	6503	SO:0001819	synonymous_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56345848C>T	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.1617C>T	12.37:g.56345848C>T						DGKA_uc001sii.1_Silent_p.I397I|DGKA_uc009zod.1_Silent_p.I458I|DGKA_uc001sik.2_Silent_p.I539I|DGKA_uc001sil.2_Silent_p.I539I|DGKA_uc001sim.2_Silent_p.I539I|DGKA_uc001sin.2_Silent_p.I539I|DGKA_uc009zof.2_Silent_p.I185I|DGKA_uc001sio.2_Silent_p.I281I	p.I539I	NM_001345	NP_001336	P23743	DGKA_HUMAN			19	1881	+			539					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Silent	SNP	ENST00000331886.5	37	c.1617C>T	CCDS8896.1																																																																																				0.522	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1				73	53	0	0	0	0.01441	0	73	53		
PAN2	9924	broad.mit.edu	37	12	56717846	56717846	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:56717846G>C	ENST00000425394.2	-	13	2428	c.2052C>G	c.(2050-2052)ctC>ctG	p.L684L	PAN2_ENST00000548043.1_Silent_p.L684L|PAN2_ENST00000257931.5_Silent_p.L683L|PAN2_ENST00000440411.3_Silent_p.L684L	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CAGGGTAGGAGAGTGTGAAAA	0.532																																						uc001skx.2		NaN																	0				ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(2050-2052)CTC>CTG		PAN2 polyA specific ribonuclease subunit homolog							118.0	118.0	118.0					12																	56717846		2203	4300	6503	SO:0001819	synonymous_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56717846G>C	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2052C>G	12.37:g.56717846G>C						PAN2_uc001skw.2_5'UTR|PAN2_uc001skz.2_Silent_p.L683L|PAN2_uc001sky.2_Silent_p.L684L	p.L684L	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			13	2425	-			684						Silent	SNP	ENST00000425394.2	37	c.2052C>G	CCDS44922.1																																																																																				0.532	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1		NM_014871		99	80	0	0	0	0.01441	0	99	80		
TMBIM4	51643	broad.mit.edu	37	12	66531814	66531814	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:66531814T>C	ENST00000358230.3	-	7	763	c.643A>G	c.(643-645)Atc>Gtc	p.I215V	TMBIM4_ENST00000542724.1_Missense_Mutation_p.I184V|TMBIM4_ENST00000286424.7_Missense_Mutation_p.I262V|TMBIM4_ENST00000539652.1_3'UTR|TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000544599.1_Missense_Mutation_p.I38V|TMBIM4_ENST00000398033.4_3'UTR	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	215					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TAGAGGCTGATGGCAGCTAAT	0.418																																						uc001stc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(643-645)ATC>GTC		transmembrane BAX inhibitor motif containing 4							133.0	130.0	131.0					12																	66531814		1935	4147	6082	SO:0001583	missense	51643					integral to membrane	protein binding	g.chr12:66531814T>C	AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.643A>G	12.37:g.66531814T>C	ENSP00000350965:p.Ile215Val					LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Missense_Mutation_p.I184V|TMBIM4_uc009zqr.2_Missense_Mutation_p.I262V|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_3'UTR|TMBIM4_uc009zqs.2_3'UTR	p.I215V	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN		GBM - Glioblastoma multiforme(28;0.0745)	7	719	-			215			Helical; (Potential).		Q542Z6|Q9UHY5|Q9Y3C2	Missense_Mutation	SNP	ENST00000358230.3	37	c.643A>G	CCDS41805.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046731	0.55110	.	.	ENSG00000155957	ENST00000358230;ENST00000544599;ENST00000286424;ENST00000539427;ENST00000542724	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.73	5.73	0.89815	.	0.050226	0.85682	D	0.000000	T	0.36771	0.0979	L	0.33792	1.035	0.80722	D	1	B;B;B	0.31519	0.078;0.318;0.327	B;B;B	0.39971	0.124;0.254;0.315	T	0.19877	-1.0292	9	.	.	.	-13.5199	10.6314	0.45538	0.0:0.0715:0.0:0.9285	.	262;184;215	G3XAA5;G3V1M2;Q9HC24	.;.;TMBI4_HUMAN	V	215;38;262;260;184	ENSP00000350965:I215V;ENSP00000444639:I38V;ENSP00000286424:I262V;ENSP00000441291:I184V	.	I	-	1	0	TMBIM4	64818081	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.339000	0.65953	2.308000	0.77769	0.533000	0.62120	ATC		0.418	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2		NM_016056		35	80	0	0	0	0.01441	0	35	80		
ATP2B1	490	broad.mit.edu	37	12	89997570	89997570	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:89997570G>C	ENST00000428670.3	-	17	3223	c.2767C>G	c.(2767-2769)Ctc>Gtc	p.L923V	ATP2B1_ENST00000348959.3_Missense_Mutation_p.L923V|ATP2B1_ENST00000393164.2_Missense_Mutation_p.L666V|ATP2B1_ENST00000261173.2_Missense_Mutation_p.L923V|ATP2B1_ENST00000359142.3_Missense_Mutation_p.L923V			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	923					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CGTGAGATGAGAGGCTTATTT	0.418																																						uc001tbh.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2767-2769)CTC>GTC		plasma membrane calcium ATPase 1 isoform 1b							134.0	122.0	126.0					12																	89997570		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:89997570G>C	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2767C>G	12.37:g.89997570G>C	ENSP00000392043:p.Leu923Val					ATP2B1_uc001tbg.2_Missense_Mutation_p.L923V|ATP2B1_uc001tbf.2_Missense_Mutation_p.L593V	p.L923V	NM_001682	NP_001673	P20020	AT2B1_HUMAN			16	2948	-			923			Cytoplasmic (Potential).		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.2767C>G	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314446	0.60524	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43;-4.43	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.98441	0.9481	M	0.90814	3.15	0.80722	D	1	D;D;P	0.71674	0.998;0.967;0.828	D;P;P	0.77557	0.99;0.766;0.556	D	0.98521	1.0623	10	0.87932	D	0	-13.4964	10.4065	0.44260	0.1494:0.0:0.8506:0.0	.	923;923;923	P20020-3;P20020-2;P20020-6	.;.;.	V	923;923;923;923;666	ENSP00000261173:L923V;ENSP00000343599:L923V;ENSP00000352054:L923V;ENSP00000392043:L923V;ENSP00000376869:L666V	ENSP00000261173:L923V	L	-	1	0	ATP2B1	88521701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.357000	0.59436	2.882000	0.98803	0.655000	0.94253	CTC		0.418	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1		NM_001682		48	67	0	0	0	0.01441	0	48	67		
GLT8D2	83468	broad.mit.edu	37	12	104388223	104388223	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:104388223G>A	ENST00000360814.4	-	9	1062	c.657C>T	c.(655-657)atC>atT	p.I219I	GLT8D2_ENST00000546436.1_Silent_p.I219I|GLT8D2_ENST00000548660.1_Silent_p.I219I	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	219						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TGCTGGGGCTGATGCCAAGGT	0.483																																						uc001tkh.1		NaN																	0				ovary(1)|skin(1)	2						c.(655-657)ATC>ATT		glycosyltransferase 8 domain containing 2							130.0	115.0	120.0					12																	104388223		2203	4300	6503	SO:0001819	synonymous_variant	83468					integral to membrane	transferase activity, transferring glycosyl groups	g.chr12:104388223G>A	BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.657C>T	12.37:g.104388223G>A						GLT8D2_uc001tki.1_Silent_p.I219I	p.I219I	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN			9	1063	-			219			Lumenal (Potential).		Q96KA2	Silent	SNP	ENST00000360814.4	37	c.657C>T	CCDS9096.1																																																																																				0.483	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1		NM_031302		28	27	0	0	0	0.013726	0	28	27		
APPL2	55198	broad.mit.edu	37	12	105582222	105582222	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:105582222G>T	ENST00000258530.3	-	17	1688	c.1463C>A	c.(1462-1464)tCt>tAt	p.S488Y	APPL2_ENST00000539978.2_Missense_Mutation_p.S445Y|APPL2_ENST00000551662.1_Missense_Mutation_p.S494Y	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTGCAAAAGAGAATCTGGAAG	0.418																																						uc001tlf.1		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1462-1464)TCT>TAT		adaptor protein, phosphotyrosine interaction, PH							74.0	74.0	74.0					12																	105582222		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105582222G>T	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1463C>A	12.37:g.105582222G>T	ENSP00000258530:p.Ser488Tyr					APPL2_uc010swt.1_Missense_Mutation_p.S445Y|APPL2_uc001tlg.1_Missense_Mutation_p.S242Y|APPL2_uc010swu.1_Missense_Mutation_p.S494Y|APPL2_uc009zuq.2_Missense_Mutation_p.S445Y	p.S488Y	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN			17	1681	-			488			PID.		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.1463C>A	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051799	0.75960	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.32753	2.23;1.44;1.99	5.35	5.35	0.76521	.	0.123577	0.64402	D	0.000017	T	0.50394	0.1613	M	0.65498	2.005	0.58432	D	0.999996	D;P;D	0.67145	0.996;0.916;0.962	D;P;P	0.64776	0.929;0.529;0.839	T	0.51903	-0.8646	10	0.72032	D	0.01	-17.546	12.4168	0.55498	0.077:0.0:0.923:0.0	.	494;445;488	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	Y	488;445;494	ENSP00000258530:S488Y;ENSP00000444472:S445Y;ENSP00000446917:S494Y	ENSP00000258530:S488Y	S	-	2	0	APPL2	104106352	1.000000	0.71417	0.982000	0.44146	0.809000	0.45718	8.061000	0.89467	2.497000	0.84241	0.637000	0.83480	TCT		0.418	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3		NM_018171		17	20	1	0	2.37509e-13	0.010504	2.50732e-13	17	20		
MYO1H	283446	broad.mit.edu	37	12	109872912	109872912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:109872912C>T	ENST00000431443.2	+	20	2116	c.2116C>T	c.(2116-2118)Caa>Taa	p.Q706*	MYO1H_ENST00000310903.5_Nonsense_Mutation_p.Q696*	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	706	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TAGTAAACATCAACTAGGTAT	0.343																																						uc010sxn.1		NaN																	0					0						c.(2086-2088)CAA>TAA		myosin 1H							97.0	86.0	90.0					12																	109872912		1828	4079	5907	SO:0001587	stop_gained	283446					myosin complex	motor activity	g.chr12:109872912C>T		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2116C>T	12.37:g.109872912C>T	ENSP00000444076:p.Gln706*						p.Q696*	NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN			20	2086	+			Error:Variant_position_missing_in_B4DNW6_after_alignment					F5H3C6	Nonsense_Mutation	SNP	ENST00000431443.2	37	c.2086C>T		.	.	.	.	.	.	.	.	.	.	C	38	6.638897	0.97726	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	15.3452	0.74330	0.0:1.0:0.0:0.0	.	.	.	.	X	696;706	.	ENSP00000439182:Q696X	Q	+	1	0	MYO1H	108357295	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.790000	0.62453	2.285000	0.76669	0.655000	0.94253	CAA		0.343	MYO1H-201	KNOWN	basic	protein_coding	protein_coding			NM_173597		10	18	0	0	0	0.013537	0	10	18		
RBM19	9904	broad.mit.edu	37	12	114392942	114392942	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:114392942G>A	ENST00000545145.2	-	7	993	c.915C>T	c.(913-915)gtC>gtT	p.V305V	RBM19_ENST00000261741.5_Silent_p.V305V|RBM19_ENST00000392561.3_Silent_p.V305V	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	305	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					ATACCTCTGTGACATTGAACG	0.572																																						uc009zwi.2		NaN																	0				skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6						c.(913-915)GTC>GTT		RNA binding motif protein 19							143.0	128.0	133.0					12																	114392942		2203	4300	6503	SO:0001819	synonymous_variant	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114392942G>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.915C>T	12.37:g.114392942G>A						RBM19_uc001tvn.3_Silent_p.V305V|RBM19_uc001tvm.2_Silent_p.V305V	p.V305V	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN			7	1059	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		305			RRM 2.		A8K5X9|Q9BPY6|Q9UFN5	Silent	SNP	ENST00000545145.2	37	c.915C>T	CCDS9172.1																																																																																				0.572	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1		NM_016196		4	155	0	0	0	0.001168	0	4	155		
FBXO21	23014	broad.mit.edu	37	12	117595695	117595695	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:117595695G>A	ENST00000330622.5	-	10	1520	c.1521C>T	c.(1519-1521)ctC>ctT	p.L507L	FBXO21_ENST00000427718.2_Silent_p.L500L			O94952	FBX21_HUMAN	F-box protein 21	507					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		GCTTCATAATGAGCCCGATGG	0.562																																					GBM(168;452 2038 13535 17701 43680)	uc001twk.2		NaN																	0				kidney(1)	1						c.(1519-1521)CTC>CTT		F-box only protein 21 isoform 1							143.0	119.0	127.0					12																	117595695		2203	4300	6503	SO:0001819	synonymous_variant	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117595695G>A	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1521C>T	12.37:g.117595695G>A						FBXO21_uc001twj.2_Silent_p.L500L|FBXO21_uc009zwq.2_Silent_p.L440L|FBXO21_uc001twl.1_Silent_p.L120L	p.L507L	NM_033624	NP_296373	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	10	1560	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		507					B3KMF0|Q5BJG0|Q9H087	Silent	SNP	ENST00000330622.5	37	c.1521C>T	CCDS9184.1	.	.	.	.	.	.	.	.	.	.	G	9.159	1.018339	0.19355	.	.	ENSG00000135108	ENST00000550180	.	.	.	5.02	4.11	0.48088	.	.	.	.	.	T	0.56731	0.2005	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53655	-0.8408	4	.	.	.	-12.9944	7.4053	0.26987	0.1536:0.2045:0.642:0.0	.	.	.	.	Y	384	.	.	H	-	1	0	FBXO21	116080078	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.975000	0.29449	1.307000	0.44944	0.655000	0.94253	CAT		0.562	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1		NM_033624		51	65	0	0	0	0.01441	0	51	65		
WSB2	55884	broad.mit.edu	37	12	118490215	118490215	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:118490215C>G	ENST00000315436.3	-	2	223	c.82G>C	c.(82-84)Gaa>Caa	p.E28Q	WSB2_ENST00000535496.1_Missense_Mutation_p.E30Q|WSB2_ENST00000544233.1_5'UTR|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000441406.2_Missense_Mutation_p.E45Q	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	28					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCAGGTTTCACAGCTGGAC	0.587																																						uc001twr.2		NaN																	0				ovary(1)	1						c.(82-84)GAA>CAA		WD SOCS-box protein 2							96.0	102.0	100.0					12																	118490215		2203	4300	6503	SO:0001583	missense	55884				intracellular signal transduction			g.chr12:118490215C>G	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.82G>C	12.37:g.118490215C>G	ENSP00000319474:p.Glu28Gln					WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_5'UTR|WSB2_uc009zws.1_Missense_Mutation_p.E28Q	p.E28Q	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN			2	180	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		28					B4DIE6|B4DPV6|Q9NRX9	Missense_Mutation	SNP	ENST00000315436.3	37	c.82G>C	CCDS9186.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015657	0.93404	.	.	ENSG00000176871	ENST00000315436;ENST00000441406;ENST00000535496;ENST00000537945	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.48	5.48	0.80851	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85340	0.5674	M	0.73962	2.25	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.82438	-0.0457	10	0.24483	T	0.36	-19.7694	18.1384	0.89630	0.0:1.0:0.0:0.0	.	28	Q9NYS7	WSB2_HUMAN	Q	28;45;30;30	ENSP00000319474:E28Q;ENSP00000409131:E45Q;ENSP00000439450:E30Q;ENSP00000440386:E30Q	ENSP00000319474:E28Q	E	-	1	0	WSB2	116974598	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.261000	0.78400	2.563000	0.86464	0.591000	0.81541	GAA		0.587	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1		NM_018639		78	106	0	0	0	0.01441	0	78	106		
HCAR1	27198	broad.mit.edu	37	12	123214482	123214482	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:123214482G>A	ENST00000436083.2	-	1	908	c.405C>T	c.(403-405)atC>atT	p.I135I	HCAR1_ENST00000356987.2_Silent_p.I135I|HCAR1_ENST00000432564.1_Silent_p.I135I			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	135					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						GGGTGCAGACGATGCCAGCCG	0.592																																						uc001ucz.2		NaN																	0					0						c.(403-405)ATC>ATT		G protein-coupled receptor 81							58.0	60.0	59.0					12																	123214482		2203	4300	6503	SO:0001819	synonymous_variant	27198				response to estradiol stimulus	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:123214482G>A	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	4532	protein-coding gene	gene with protein product	"""lactate receptor 1"""	606923	"""G protein-coupled receptor 104"", ""G protein-coupled receptor 81"""	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.405C>T	12.37:g.123214482G>A						GPR81_uc001ucw.1_RNA	p.I135I	NM_032554	NP_115943	Q9BXC0	HCAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197)	1	648	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		135			Helical; Name=4; (Potential).		B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Silent	SNP	ENST00000436083.2	37	c.405C>T	CCDS9236.1																																																																																				0.592	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1				63	60	0	0	0	0.01441	0	63	60		
DNAH10	196385	broad.mit.edu	37	12	124415937	124415937	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:124415937C>G	ENST00000409039.3	+	73	12505	c.12480C>G	c.(12478-12480)ctC>ctG	p.L4160L	DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4160					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGTTTGGTCTCCACCCCAACG	0.577																																						uc001uft.3		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(12478-12480)CTC>CTG		dynein, axonemal, heavy chain 10							57.0	63.0	61.0					12																	124415937		2122	4229	6351	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124415937C>G	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.12480C>G	12.37:g.124415937C>G						DNAH10_uc001ufu.3_Silent_p.L73L	p.L4160L	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	73	12505	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		4160					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.12480C>G	CCDS9255.2																																																																																				0.577	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3				29	49	0	0	0	0.004878	0	29	49		
DHX37	57647	broad.mit.edu	37	12	125451375	125451375	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr12:125451375C>T	ENST00000308736.2	-	12	1652	c.1554G>A	c.(1552-1554)aaG>aaA	p.K518K	DHX37_ENST00000544745.1_Silent_p.K305K	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	518	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCCTTGACTTCTTAAACTTCC	0.617																																						uc001ugy.2		NaN																	0				skin(1)	1						c.(1552-1554)AAG>AAA		DEAH (Asp-Glu-Ala-His) box polypeptide 37							125.0	120.0	121.0					12																	125451375		2203	4300	6503	SO:0001819	synonymous_variant	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125451375C>T	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.1554G>A	12.37:g.125451375C>T							p.K518K	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	12	1653	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		518			Helicase C-terminal.		Q9BUI7|Q9P211	Silent	SNP	ENST00000308736.2	37	c.1554G>A	CCDS9261.1																																																																																				0.617	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_032656		34	58	0	0	0	0.013114	0	34	58		
ZMYM2	7750	broad.mit.edu	37	13	20608481	20608481	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:20608481G>A	ENST00000382874.2	+	12	2246	c.2056G>A	c.(2056-2058)Gag>Aag	p.E686K	ZMYM2_ENST00000382883.3_Missense_Mutation_p.E168K|ZMYM2_ENST00000382871.2_Missense_Mutation_p.E686K|ZMYM2_ENST00000382869.3_Missense_Mutation_p.E686K	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	686					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		ATACTGTCAAGAGGAGAAGAC	0.358																																						uc001umr.2		NaN																	0				lung(3)|ovary(2)|prostate(1)	6						c.(2056-2058)GAG>AAG		zinc finger protein 198							126.0	120.0	122.0					13																	20608481		1866	4110	5976	SO:0001583	missense	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20608481G>A	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2056G>A	13.37:g.20608481G>A	ENSP00000372327:p.Glu686Lys					ZMYM2_uc001ums.2_Missense_Mutation_p.E686K|ZMYM2_uc001umt.2_Missense_Mutation_p.E686K|ZMYM2_uc010tco.1_RNA|ZMYM2_uc001umv.2_Missense_Mutation_p.E66K|ZMYM2_uc001umw.2_Missense_Mutation_p.E139K	p.E686K	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	12	2354	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	686			MYM-type 7.		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	c.2056G>A	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623886	0.87460	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382883;ENST00000382870	T;T;T;T	0.43294	2.21;2.21;2.21;0.95	5.58	5.58	0.84498	TRASH (1);	0.000000	0.85682	D	0.000000	T	0.51975	0.1706	N	0.22421	0.69	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.47749	-0.9093	10	0.34782	T	0.22	-14.2	19.5662	0.95393	0.0:0.0:1.0:0.0	.	686	Q9UBW7	ZMYM2_HUMAN	K	686;686;686;686;168;66	ENSP00000372322:E686K;ENSP00000372327:E686K;ENSP00000372324:E686K;ENSP00000372336:E168K	ENSP00000372322:E686K	E	+	1	0	ZMYM2	19506481	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.647000	0.83462	2.608000	0.88229	0.655000	0.94253	GAG		0.358	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2		NM_003453		30	53	0	0	0	0.013726	0	30	53		
SACS	26278	broad.mit.edu	37	13	23909330	23909330	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:23909330G>A	ENST00000382292.3	-	9	8958	c.8685C>T	c.(8683-8685)aaC>aaT	p.N2895N	SACS_ENST00000382298.3_Silent_p.N2895N|SACS_ENST00000402364.1_Silent_p.N2145N			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2895					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CACGCCACAGGTTCCTTCTGG	0.433																																						uc001uon.2		NaN																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(8683-8685)AAC>AAT		sacsin							80.0	79.0	79.0					13																	23909330		2203	4299	6502	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23909330G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8685C>T	13.37:g.23909330G>A						SACS_uc001uoo.2_Silent_p.N2748N|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.N2895N	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	9274	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2895					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.8685C>T	CCDS9300.2																																																																																				0.433	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363		35	28	0	0	0	0.00623	0	35	28		
SACS	26278	broad.mit.edu	37	13	23915753	23915753	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:23915753G>A	ENST00000382292.3	-	9	2535	c.2262C>T	c.(2260-2262)ttC>ttT	p.F754F	SACS_ENST00000382298.3_Silent_p.F754F|SACS_ENST00000402364.1_Silent_p.F4F			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	754					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGCCAGGCCAGAATGTATTCA	0.373																																						uc001uon.2		NaN																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2260-2262)TTC>TTT		sacsin							51.0	51.0	51.0					13																	23915753		2203	4299	6502	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23915753G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2262C>T	13.37:g.23915753G>A						SACS_uc001uoo.2_Silent_p.F607F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Silent_p.F607F	p.F754F	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	2851	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	754					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.2262C>T	CCDS9300.2																																																																																				0.373	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363		31	52	0	0	0	0.009718	0	31	52		
TEX26	122046	broad.mit.edu	37	13	31506889	31506889	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:31506889C>T	ENST00000380473.3	+	1	50	c.37C>T	c.(37-39)Ctc>Ttc	p.L13F	TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000411835.2_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000587596.1_RNA|TEX26-AS1_ENST00000429200.2_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000591300.1_RNA|TEX26-AS1_ENST00000588425.1_RNA|TEX26-AS1_ENST00000585582.1_RNA|TEX26-AS1_ENST00000589840.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000591131.1_RNA	NM_152325.1	NP_689538.1	Q8N6G2	TEX26_HUMAN	testis expressed 26	13																	GGATCCCTCTCTCTGCCACCA	0.672																																						uc001uti.2		NaN																	0				ovary(2)|skin(1)	3						c.(37-39)CTC>TTC		hypothetical protein LOC122046							20.0	23.0	22.0					13																	31506889		2203	4300	6503	SO:0001583	missense	122046							g.chr13:31506889C>T	BC030277	CCDS9339.1	13q12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000175664	ENSG00000175664			28622	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 26"""	C13orf26		12477932	Standard	NM_152325		Approved	MGC40178	uc001uti.3	Q8N6G2	OTTHUMG00000016682	ENST00000380473.3:c.37C>T	13.37:g.31506889C>T	ENSP00000369840:p.Leu13Phe					uc001utg.1_5'Flank	p.L13F	NM_152325	NP_689538	Q8N6G2	CM026_HUMAN		all cancers(112;0.0176)|Epithelial(112;0.0768)|OV - Ovarian serous cystadenocarcinoma(117;0.0852)	1	56	+		Lung SC(185;0.0281)	13						Missense_Mutation	SNP	ENST00000380473.3	37	c.37C>T	CCDS9339.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917373	0.33815	.	.	ENSG00000175664	ENST00000380473	T	0.44881	0.91	3.74	0.826	0.18829	.	0.996520	0.08121	N	0.994640	T	0.22859	0.0552	N	0.08118	0	0.09310	N	1	P	0.43094	0.799	B	0.36092	0.217	T	0.15549	-1.0433	10	0.49607	T	0.09	-0.0022	11.3349	0.49498	0.0:0.4403:0.5597:0.0	.	13	Q8N6G2	CM026_HUMAN	F	13	ENSP00000369840:L13F	ENSP00000369840:L13F	L	+	1	0	C13orf26	30404889	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.077000	0.14738	0.137000	0.18759	-0.175000	0.13238	CTC		0.672	TEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044380.2		NM_152325		15	22	0	0	0	0.007413	0	15	22		
RXFP2	122042	broad.mit.edu	37	13	32366994	32366994	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:32366994G>C	ENST00000298386.2	+	16	1626	c.1555G>C	c.(1555-1557)Gag>Cag	p.E519Q	RXFP2_ENST00000380314.1_Missense_Mutation_p.E495Q	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	519					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTTGACTTTGGAGAAGTTCCT	0.517																																						uc001utt.2		NaN																	0					0						c.(1555-1557)GAG>CAG		relaxin/insulin-like family peptide receptor 2							111.0	92.0	98.0					13																	32366994		2203	4300	6503	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32366994G>C	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1555G>C	13.37:g.32366994G>C	ENSP00000298386:p.Glu519Gln					RXFP2_uc010aba.2_Missense_Mutation_p.E478Q	p.E519Q	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	16	1626	+		Lung SC(185;0.0262)	519			Cytoplasmic (Potential).		B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.1555G>C	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003812	0.93287	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.74526	-0.85;-0.85	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.87265	0.6134	M	0.81239	2.535	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.967	D	0.88267	0.2927	10	0.87932	D	0	.	18.4913	0.90849	0.0:0.0:1.0:0.0	.	495;519	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	Q	495;519	ENSP00000369670:E495Q;ENSP00000298386:E519Q	ENSP00000298386:E519Q	E	+	1	0	RXFP2	31264994	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.647000	0.98478	2.721000	0.93114	0.655000	0.94253	GAG		0.517	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1		NM_130806		20	28	0	0	0	0.003954	0	20	28		
TRPC4	7223	broad.mit.edu	37	13	38225530	38225530	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:38225530C>A	ENST00000379705.3	-	8	2808	c.1951G>T	c.(1951-1953)Ggt>Tgt	p.G651C	TRPC4_ENST00000355779.2_Missense_Mutation_p.G651C|TRPC4_ENST00000358477.2_Missense_Mutation_p.G651C|TRPC4_ENST00000338947.5_Missense_Mutation_p.G478C|TRPC4_ENST00000379681.3_Missense_Mutation_p.G651C|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379679.1_Missense_Mutation_p.G478C|TRPC4_ENST00000447043.1_Missense_Mutation_p.G651C|TRPC4_ENST00000379673.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	651	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGCAGAGTACCTCCTTCTTCA	0.433																																						uc001uws.2		NaN																	0				ovary(3)|skin(2)|breast(1)	6						c.(1951-1953)GGT>TGT		transient receptor potential cation channel,							140.0	137.0	138.0					13																	38225530		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38225530C>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1951G>T	13.37:g.38225530C>A	ENSP00000369027:p.Gly651Cys					TRPC4_uc010abv.2_Missense_Mutation_p.G231C|TRPC4_uc001uwt.2_Missense_Mutation_p.G651C|TRPC4_uc010tey.1_Missense_Mutation_p.G651C|TRPC4_uc010abw.2_Missense_Mutation_p.G478C|TRPC4_uc010abx.2_Missense_Mutation_p.G651C|TRPC4_uc010aby.2_Intron	p.G651C	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	8	2186	-			651			Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.1951G>T	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201776	0.79015	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000447043	D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.5	5.5	0.81552	.	0.044434	0.85682	D	0.000000	D	0.89136	0.6629	L	0.52573	1.65	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.999;1.0;0.999;0.999	D;D;D;D;D	0.80764	0.967;0.958;0.994;0.978;0.968	D	0.87590	0.2490	10	0.41790	T	0.15	-21.4131	19.7571	0.96298	0.0:1.0:0.0:0.0	.	651;651;478;651;651	Q9UBN4-3;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;TRPC4_HUMAN	C	651;651;478;478;651;651;651	ENSP00000369027:G651C;ENSP00000369003:G651C;ENSP00000342580:G478C;ENSP00000369001:G478C;ENSP00000348025:G651C;ENSP00000351264:G651C;ENSP00000414316:G651C	ENSP00000342580:G478C	G	-	1	0	TRPC4	37123530	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.758000	0.94735	0.561000	0.74099	GGT		0.433	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2		NM_003306		60	47	1	0	3.13765e-25	0.01441	3.40719e-25	60	47		
UTP14C	9724	broad.mit.edu	37	13	52603133	52603133	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:52603133G>C	ENST00000521776.2	+	2	926	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	65					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TGAGAGGTCTGAGGCTAGTCT	0.468																																						uc001vgb.2		NaN																	0				ovary(3)|large_intestine(1)|breast(1)	5						c.(193-195)GAG>CAG		UTP14, U3 small nucleolar ribonucleoprotein,							218.0	224.0	222.0					13																	52603133		2203	4300	6503	SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52603133G>C	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.193G>C	13.37:g.52603133G>C	ENSP00000428619:p.Glu65Gln					UTP14C_uc001vga.2_3'UTR|UTP14C_uc001vgc.2_RNA	p.E65Q	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	728	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	65					Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.193G>C	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788970	0.49997	.	.	ENSG00000253797	ENST00000521776	T	0.19669	2.13	2.41	2.41	0.29592	.	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	M	0.90977	3.165	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	T	0.60722	-0.7207	10	0.87932	D	0	-28.6743	10.5045	0.44826	0.0:0.0:1.0:0.0	.	65	Q5TAP6	UT14C_HUMAN	Q	65	ENSP00000428619:E65Q	ENSP00000428619:E65Q	E	+	1	0	UTP14C	51501134	1.000000	0.71417	0.990000	0.47175	0.502000	0.33828	5.611000	0.67674	1.360000	0.45960	0.551000	0.68910	GAG		0.468	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2		NM_021645		74	164	0	0	0	0.01441	0	74	164		
TBC1D4	9882	broad.mit.edu	37	13	75933988	75933988	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:75933988G>A	ENST00000377636.3	-	3	1433	c.1087C>T	c.(1087-1089)Cga>Tga	p.R363*	TBC1D4_ENST00000377625.2_Nonsense_Mutation_p.R363*|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Nonsense_Mutation_p.R363*	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	363	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ATCTCAAATCGCCCAACCTTA	0.274																																						uc001vjl.1		NaN																	0		p.R363Q(1)		ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1087-1089)CGA>TGA		TBC1 domain family, member 4							62.0	59.0	60.0					13																	75933988		1788	4068	5856	SO:0001587	stop_gained	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75933988G>A	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1087C>T	13.37:g.75933988G>A	ENSP00000366863:p.Arg363*					TBC1D4_uc010aer.2_Nonsense_Mutation_p.R363*|TBC1D4_uc010aes.2_Nonsense_Mutation_p.R363*	p.R363*	NM_014832	NP_055647	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	3	1434	-		Prostate(6;0.014)|Breast(118;0.0982)	363			PID 2.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Nonsense_Mutation	SNP	ENST00000377636.3	37	c.1087C>T	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	G	42	9.263918	0.99118	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	.	.	.	5.86	5.01	0.66863	.	0.000000	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.9467	15.159	0.72767	0.0:0.0:0.7305:0.2695	.	.	.	.	X	363	.	ENSP00000366852:R363X	R	-	1	2	TBC1D4	74831989	1.000000	0.71417	0.964000	0.40570	0.994000	0.84299	6.583000	0.74053	1.598000	0.50083	0.650000	0.86243	CGA		0.274	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1		NM_014832		11	38	0	0	0	0.010729	0	11	38		
MYCBP2	23077	broad.mit.edu	37	13	77667465	77667465	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:77667465T>C	ENST00000544440.2	-	59	10105	c.10088A>G	c.(10087-10089)cAt>cGt	p.H3363R	MYCBP2_ENST00000407578.2_Missense_Mutation_p.H3401R|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.H3363R					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTCATGATGATGCCTGCATTA	0.358																																						uc001vkf.2		NaN																	0				ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(10087-10089)CAT>CGT		MYC binding protein 2							109.0	108.0	108.0					13																	77667465		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77667465T>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.10088A>G	13.37:g.77667465T>C	ENSP00000444596:p.His3363Arg					MYCBP2_uc010aev.2_Missense_Mutation_p.H2767R|MYCBP2_uc001vke.2_5'UTR	p.H3363R	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	60	10179	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3363						Missense_Mutation	SNP	ENST00000544440.2	37	c.10088A>G		.	.	.	.	.	.	.	.	.	.	T	17.67	3.447479	0.63178	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.27402	1.67;1.67;1.67	5.56	5.56	0.83823	.	0.059717	0.64402	D	0.000002	T	0.22399	0.0540	N	0.19112	0.55	0.51767	D	0.999933	B	0.24186	0.099	B	0.19946	0.027	T	0.03394	-1.1041	10	0.34782	T	0.22	.	15.7196	0.77697	0.0:0.0:0.0:1.0	.	3363	O75592	MYCB2_HUMAN	R	3363;3401;3363	ENSP00000349892:H3363R;ENSP00000384288:H3401R;ENSP00000444596:H3363R	ENSP00000349892:H3363R	H	-	2	0	MYCBP2	76565466	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.696000	0.84270	2.113000	0.64589	0.528000	0.53228	CAT		0.358	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1		NM_015057		7	127	0	0	0	0.001984	0	7	127		
DOCK9	23348	broad.mit.edu	37	13	99538841	99538841	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:99538841C>G	ENST00000376460.1	-	19	2161	c.2081G>C	c.(2080-2082)aGa>aCa	p.R694T	DOCK9_ENST00000339416.2_Missense_Mutation_p.R695T|DOCK9_ENST00000442173.1_Missense_Mutation_p.R694T|DOCK9_ENST00000448493.2_Missense_Mutation_p.R706T	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	695	DHR-1.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AAAGGCGCTTCTTGTGAAAAC	0.383																																						uc001vnt.2		NaN																	0				central_nervous_system(1)	1						c.(2083-2085)AGA>ACA		dedicator of cytokinesis 9 isoform a							74.0	74.0	74.0					13																	99538841		1857	4095	5952	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99538841C>G	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.2081G>C	13.37:g.99538841C>G	ENSP00000365643:p.Arg694Thr					DOCK9_uc001vnw.2_Missense_Mutation_p.R694T|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.R695T|DOCK9_uc010tis.1_Missense_Mutation_p.R694T|DOCK9_uc010tit.1_Missense_Mutation_p.R695T|DOCK9_uc010afu.1_Missense_Mutation_p.R510T	p.R695T	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			19	2139	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		695			DHR-1.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.2084G>C	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	4.095	0.015627	0.07959	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	5.86	4.08	0.47627	.	0.190489	0.56097	D	0.000027	T	0.03348	0.0097	N	0.01874	-0.695	0.38694	D	0.952846	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.002;0.004;0.001;0.0;0.001	T	0.39057	-0.9632	9	.	.	.	.	6.3428	0.21332	0.0:0.6572:0.1346:0.2082	.	695;694;694;694;695	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	T	694;695;695;695;694;695;706;694	ENSP00000365643:R694T;ENSP00000341086:R695T;ENSP00000401958:R706T;ENSP00000406883:R694T	.	R	-	2	0	DOCK9	98336842	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	1.596000	0.36718	1.479000	0.48272	0.655000	0.94253	AGA		0.383	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1		NM_015296		13	15	0	0	0	0.007413	0	13	15		
ARHGEF7	8874	broad.mit.edu	37	13	111929934	111929934	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr13:111929934G>A	ENST00000375741.2	+	14	1733	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	ARHGEF7_ENST00000317133.5_Splice_Site_p.E474K|ARHGEF7_ENST00000370623.3_Splice_Site_p.E402K|ARHGEF7_ENST00000218789.5_Splice_Site_p.E317K|ARHGEF7_ENST00000478679.1_Splice_Site_p.E239K|ARHGEF7_ENST00000375739.2_Splice_Site_p.E445K|ARHGEF7_ENST00000544132.1_Splice_Site_p.E151K|ARHGEF7_ENST00000375723.1_Splice_Site_p.E317K|ARHGEF7_ENST00000375737.5_Splice_Site_p.E392K|ARHGEF7_ENST00000426073.2_Splice_Site_p.E317K|ARHGEF7_ENST00000375736.4_Splice_Site_p.E317K	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	495	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TTTGTATTAGGAAAAGAATGA	0.313																																						uc001vrs.2		NaN																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(1483-1485)GAA>AAA		PAK-interacting exchange factor beta isoform c							89.0	90.0	89.0					13																	111929934		2203	4297	6500	SO:0001630	splice_region_variant	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111929934G>A	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1483-1G>A	13.37:g.111929934G>A						ARHGEF7_uc001vrr.2_Missense_Mutation_p.E474K|ARHGEF7_uc001vrt.2_Missense_Mutation_p.E445K|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Missense_Mutation_p.E317K|ARHGEF7_uc001vrv.3_Missense_Mutation_p.E317K|ARHGEF7_uc001vrw.3_Missense_Mutation_p.E317K|ARHGEF7_uc001vrx.3_Missense_Mutation_p.E317K|ARHGEF7_uc010tjo.1_Missense_Mutation_p.E392K|ARHGEF7_uc010tjp.1_Missense_Mutation_p.E239K	p.E495K	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		14	1733	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		495			PH.		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000375741.2	37	c.1483G>A	CCDS45068.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876594	0.72180	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000544132;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.11	5.11	0.69529	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.66694	0.2815	M	0.84082	2.675	0.80722	D	1	B;D;B;P;D	0.54397	0.054;0.966;0.296;0.716;0.958	B;P;B;P;P	0.62740	0.161;0.896;0.261;0.906;0.901	T	0.70278	-0.4916	9	.	.	.	.	18.5704	0.91133	0.0:0.0:1.0:0.0	.	239;392;445;495;474	E9PDQ5;B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;.;ARHG7_HUMAN;.	K	474;495;445;402;472;317;151;317;317;317;392;317;239	ENSP00000325994:E474K;ENSP00000364893:E495K;ENSP00000364891:E445K;ENSP00000359657:E402K;ENSP00000418067:E317K;ENSP00000445384:E151K;ENSP00000218789:E317K;ENSP00000364888:E317K;ENSP00000397068:E317K;ENSP00000364889:E392K;ENSP00000364875:E317K;ENSP00000417596:E239K	.	E	+	1	0	ARHGEF7	110727935	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.304000	0.96190	2.378000	0.81104	0.655000	0.94253	GAA		0.313	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_001113511	Missense_Mutation	9	19	0	0	0	0.008291	0	9	19		
TMEM63C	57156	broad.mit.edu	37	14	77709324	77709324	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:77709324C>G	ENST00000298351.4	+	15	1410	c.1266C>G	c.(1264-1266)ttC>ttG	p.F422L		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	422					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TCCTCTTCTTCTTTCTCACCA	0.552																																						uc001xtf.2		NaN																	0					0						c.(1264-1266)TTC>TTG		transmembrane protein 63C							77.0	82.0	80.0					14																	77709324		2046	4190	6236	SO:0001583	missense	57156					integral to membrane		g.chr14:77709324C>G		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.1266C>G	14.37:g.77709324C>G	ENSP00000298351:p.Phe422Leu					TMEM63C_uc010asq.1_Missense_Mutation_p.F422L	p.F422L	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	15	1478	+			422			Helical; (Potential).		B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	ENST00000298351.4	37	c.1266C>G	CCDS45141.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081434	0.76528	.	.	ENSG00000165548	ENST00000298351	T	0.30714	1.52	4.88	3.97	0.46021	Domain of unknown function DUF221 (1);	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	M	0.65498	2.005	0.80722	D	1	B	0.20459	0.045	B	0.31812	0.136	T	0.16070	-1.0415	10	0.26408	T	0.33	-25.0636	13.5121	0.61519	0.0:0.923:0.0:0.077	.	422	Q9P1W3	TM63C_HUMAN	L	422	ENSP00000298351:F422L	ENSP00000298351:F422L	F	+	3	2	TMEM63C	76779077	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.096000	0.57734	2.259000	0.74868	0.561000	0.74099	TTC		0.552	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1				19	31	0	0	0	0.010504	0	19	31		
SPTLC2	9517	broad.mit.edu	37	14	77984460	77984460	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:77984460C>G	ENST00000216484.2	-	11	1683	c.1490G>C	c.(1489-1491)gGa>gCa	p.G497A		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	497					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	GGCAGGAAATCCAACCACAAC	0.483																																						uc001xub.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1489-1491)GGA>GCA		serine palmitoyltransferase, long chain base	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						104.0	93.0	96.0					14																	77984460		2203	4300	6503	SO:0001583	missense	9517					integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr14:77984460C>G	AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.1490G>C	14.37:g.77984460C>G	ENSP00000216484:p.Gly497Ala						p.G497A	NM_004863	NP_004854	O15270	SPTC2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	11	1678	-			497					Q16685	Missense_Mutation	SNP	ENST00000216484.2	37	c.1490G>C	CCDS9865.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881361	0.72294	.	.	ENSG00000100596	ENST00000216484	D	0.89810	-2.57	5.59	5.59	0.84812	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	M	0.73598	2.24	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.93452	0.6803	10	0.44086	T	0.13	-19.455	19.592	0.95518	0.0:1.0:0.0:0.0	.	497	O15270	SPTC2_HUMAN	A	497	ENSP00000216484:G497A	ENSP00000216484:G497A	G	-	2	0	SPTLC2	77054213	1.000000	0.71417	1.000000	0.80357	0.608000	0.37181	7.818000	0.86416	2.626000	0.88956	0.557000	0.71058	GGA		0.483	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414030.1		NM_004863		25	41	0	0	0	0.004656	0	25	41		
TDP1	55775	broad.mit.edu	37	14	90437609	90437609	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:90437609C>T	ENST00000335725.4	+	6	1000	c.750C>T	c.(748-750)ctC>ctT	p.L250L	TDP1_ENST00000357382.3_Missense_Mutation_p.S23F|TDP1_ENST00000393454.2_Silent_p.L250L|TDP1_ENST00000393452.3_Silent_p.L250L|TDP1_ENST00000555565.1_3'UTR|TDP1_ENST00000555880.1_Silent_p.L250L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	250					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		ACATCTCTCTCTGCCAGGTAA	0.498								Repair of DNA-protein crosslinks																														uc001xxy.2		NaN																	0				ovary(2)	2						c.(748-750)CTC>CTT	Repair_of_DNA-protein_crosslinks	tyrosyl-DNA phosphodiesterase 1							92.0	73.0	80.0					14																	90437609		2203	4300	6503	SO:0001819	synonymous_variant	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90437609C>T	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.750C>T	14.37:g.90437609C>T						TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Silent_p.L250L|TDP1_uc010atn.2_Silent_p.L250L|TDP1_uc001xya.2_Missense_Mutation_p.S23F|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Silent_p.L250L	p.L250L	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	6	1049	+		all_cancers(154;0.185)	250					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Silent	SNP	ENST00000335725.4	37	c.750C>T	CCDS9888.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014422	0.35511	.	.	ENSG00000042088	ENST00000357382	T	0.55930	0.49	5.7	1.27	0.21489	.	.	.	.	.	T	0.35624	0.0938	.	.	.	0.27570	N	0.949929	B	0.06786	0.001	B	0.12156	0.007	T	0.23226	-1.0194	8	0.29301	T	0.29	-23.9017	7.7059	0.28650	0.0:0.3756:0.4213:0.2031	.	23	Q86TV8	.	F	23	ENSP00000349952:S23F	ENSP00000349952:S23F	S	+	2	0	TDP1	89507362	0.932000	0.31603	1.000000	0.80357	0.384000	0.30261	-0.002000	0.12924	0.736000	0.32559	0.561000	0.74099	TCT		0.498	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1		NM_018319		41	29	0	0	0	0.01441	0	41	29		
SERPINA11	256394	broad.mit.edu	37	14	94914896	94914896	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:94914896G>A	ENST00000334708.3	-	2	280	c.216C>T	c.(214-216)aaC>aaT	p.N72N	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	72					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)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		AGAAGAAGATGTTTCCGGGGG	0.567																																						uc001ydd.1		NaN																	0				kidney(1)	1						c.(214-216)AAC>AAT		serpin peptidase inhibitor, clade A (alpha-1							119.0	125.0	123.0					14																	94914896		2203	4300	6503	SO:0001819	synonymous_variant	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94914896G>A	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.216C>T	14.37:g.94914896G>A							p.N72N	NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	276	-			72					B2RV07	Silent	SNP	ENST00000334708.3	37	c.216C>T	CCDS32149.1																																																																																				0.567	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1		NM_001080451		82	107	0	0	0	0.01441	0	82	107		
PAPOLA	10914	broad.mit.edu	37	14	96991650	96991650	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:96991650C>G	ENST00000216277.8	+	4	473	c.253C>G	c.(253-255)Ctt>Gtt	p.L85V	PAPOLA_ENST00000557320.1_Missense_Mutation_p.L85V|PAPOLA_ENST00000557471.1_Missense_Mutation_p.L85V|PAPOLA_ENST00000392990.2_Missense_Mutation_p.L85V|PAPOLA_ENST00000554130.1_Intron	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	85					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TCAACAGAATCTTCCACAATC	0.333																																					NSCLC(19;254 734 11908 35501 39234)	uc001yfq.2		NaN																	0					0						c.(253-255)CTT>GTT		poly(A) polymerase alpha							58.0	64.0	62.0					14																	96991650		2203	4295	6498	SO:0001583	missense	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:96991650C>G	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.253C>G	14.37:g.96991650C>G	ENSP00000216277:p.Leu85Val					PAPOLA_uc001yfo.2_Missense_Mutation_p.L85V|PAPOLA_uc001yfp.2_Missense_Mutation_p.L85V|PAPOLA_uc001yfr.2_Missense_Mutation_p.L85V|PAPOLA_uc010twv.1_Missense_Mutation_p.L85V|PAPOLA_uc010avp.2_Translation_Start_Site	p.L85V	NM_032632	NP_116021	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	4	463	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	85					Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	c.253C>G	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755871	0.49362	.	.	ENSG00000090060	ENST00000216277;ENST00000557320;ENST00000546064;ENST00000557471;ENST00000556619;ENST00000392990	.	.	.	4.81	4.81	0.61882	Poly(A) polymerase, central domain (1);	0.063488	0.64402	D	0.000009	T	0.54886	0.1886	L	0.38838	1.175	0.53005	D	0.999965	B;B;B;B;B	0.21309	0.044;0.054;0.054;0.001;0.02	B;B;B;B;B	0.18561	0.009;0.022;0.015;0.007;0.008	T	0.52990	-0.8501	9	0.45353	T	0.12	.	17.8677	0.88800	0.0:1.0:0.0:0.0	.	101;101;85;85;101	F5H5I8;B4DYF4;P51003;P51003-2;B4DHB8	.;.;PAPOA_HUMAN;.;.	V	85;85;101;85;99;85	.	ENSP00000216277:L85V	L	+	1	0	PAPOLA	96061403	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.539000	0.60657	2.390000	0.81377	0.561000	0.74099	CTT		0.333	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2				15	31	0	0	0	0.010504	0	15	31		
RTL1	388015	broad.mit.edu	37	14	101349286	101349286	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:101349286C>T	ENST00000534062.1	-	1	1898	c.1840G>A	c.(1840-1842)Gcg>Acg	p.A614T	MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR136_ENST00000385207.1_RNA|MIR431_ENST00000385266.1_RNA|MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	614					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						TCCCAAGGCGCGGTGGAGGGA	0.552																																						uc010txj.1		NaN																	0				pancreas(1)	1						c.(1840-1842)GCG>ACG		retrotransposon-like 1							46.0	41.0	42.0					14																	101349286		1568	3582	5150	SO:0001583	missense	388015							g.chr14:101349286C>T		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.1840G>A	14.37:g.101349286C>T	ENSP00000435342:p.Ala614Thr					uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	p.A614T	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN			1	1899	-			614					E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	c.1840G>A	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.404047	0.25291	.	.	ENSG00000254656	ENST00000534062	T	0.23552	1.9	3.54	0.523	0.17060	.	0.641577	0.12040	N	0.505139	T	0.18551	0.0445	L	0.46157	1.445	0.09310	N	1	B	0.25955	0.138	B	0.17098	0.017	T	0.24835	-1.0149	10	0.72032	D	0.01	.	3.5938	0.07998	0.1698:0.5647:0.1652:0.1002	.	614	E9PKS8	.	T	614	ENSP00000435342:A614T	ENSP00000435342:A614T	A	-	1	0	RTL1	100419039	0.817000	0.29147	0.003000	0.11579	0.828000	0.46876	0.897000	0.28390	0.108000	0.17862	0.467000	0.42956	GCG		0.552	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1		NM_001134888		11	29	0	0	0	0.010729	0	11	29		
WDR20	91833	broad.mit.edu	37	14	102606455	102606455	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr14:102606455C>G	ENST00000342702.3	+	1	226	c.195C>G	c.(193-195)ctC>ctG	p.L65L	WDR20_ENST00000556807.1_Silent_p.L65L|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000335263.5_Silent_p.L65L|WDR20_ENST00000299135.6_Silent_p.L65L|HSP90AA1_ENST00000334701.7_5'Flank|WDR20_ENST00000557186.1_3'UTR|WDR20_ENST00000424963.2_5'UTR|WDR20_ENST00000556511.2_Silent_p.L65L|WDR20_ENST00000558567.1_Silent_p.L65L|WDR20_ENST00000322340.5_Silent_p.L65L|WDR20_ENST00000454394.2_Silent_p.L65L|HSP90AA1_ENST00000558600.1_5'Flank	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	65								p.L65L(1)		breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GCGACCGCCTCTGCTTCAATG	0.637																																						uc001ykz.2		NaN																	1	Substitution - coding silent(1)		lung(1)		0						c.(193-195)CTC>CTG		WD repeat domain 20 isoform 2							37.0	41.0	39.0					14																	102606455		2203	4300	6503	SO:0001819	synonymous_variant	91833							g.chr14:102606455C>G	BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.195C>G	14.37:g.102606455C>G						WDR20_uc001yky.1_5'UTR|WDR20_uc001yla.2_5'UTR|WDR20_uc001ylb.2_Silent_p.L65L|WDR20_uc010txu.1_Silent_p.L65L|WDR20_uc001ylc.2_Silent_p.L65L|WDR20_uc001yld.2_Silent_p.L65L|WDR20_uc001yle.2_Silent_p.L65L|WDR20_uc001ylf.2_Silent_p.L65L|HSP90AA1_uc001ykv.3_5'Flank	p.L65L	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN			1	244	+			65					B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Silent	SNP	ENST00000342702.3	37	c.195C>G	CCDS9969.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315912	0.23908	.	.	ENSG00000140153	ENST00000556511	.	.	.	5.35	4.44	0.53790	.	0.262357	0.37530	N	0.002054	T	0.70281	0.3206	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69335	-0.5172	5	.	.	.	.	14.6935	0.69103	0.0:0.7242:0.2758:0.0	.	.	.	.	V	57	.	.	L	+	1	2	WDR20	101676208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.229000	0.58625	1.205000	0.43262	0.557000	0.71058	CTG		0.637	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1		NM_181291		25	25	0	0	0	0.007291	0	25	25		
SLC12A6	9990	broad.mit.edu	37	15	34544565	34544565	+	Missense_Mutation	SNP	C	C	T	rs375887656	byFrequency	TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:34544565C>T	ENST00000354181.3	-	10	1631	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	SLC12A6_ENST00000451844.2_Missense_Mutation_p.R192H|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R321H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R380H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R371H|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R365H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R380H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R321H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R329H|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R192H			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	380					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TGAAAGGGTGCGGTTACCCAG	0.383													C|||	2	0.000399361	0.0	0.0	5008	,	,		19893	0.002		0.0	False		,,,				2504	0.0					uc001zhw.2		NaN																	0				central_nervous_system(5)|ovary(1)|skin(1)	7						c.(1138-1140)CGC>CAC		solute carrier family 12, member 6 isoform a	Potassium Chloride(DB00761)						121.0	113.0	115.0					15																	34544565		2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34544565C>T	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.1139G>A	15.37:g.34544565C>T	ENSP00000346112:p.Arg380His					SLC12A6_uc001zhv.2_Missense_Mutation_p.R329H|SLC12A6_uc001zhx.2_Missense_Mutation_p.R365H|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.R321H|SLC12A6_uc001zib.2_Missense_Mutation_p.R371H|SLC12A6_uc001zic.2_Missense_Mutation_p.R380H|SLC12A6_uc010bau.2_Missense_Mutation_p.R380H|SLC12A6_uc001zid.2_Missense_Mutation_p.R321H|SLC12A6_uc001zht.2_5'Flank|SLC12A6_uc001zhu.2_Missense_Mutation_p.R192H	p.R380H	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	9	1303	-		all_lung(180;2.78e-08)	380			Cytoplasmic (Potential).		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.1139G>A	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.868646	0.91587	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.55	5.55	0.83447	.	0.148153	0.41605	D	0.000841	T	0.71384	0.3333	M	0.68952	2.095	0.80722	D	1	P;P;P;P	0.50943	0.653;0.534;0.94;0.864	B;B;P;B	0.47015	0.147;0.187;0.534;0.426	T	0.71451	-0.4589	10	0.40728	T	0.16	.	18.4277	0.90614	0.0:1.0:0.0:0.0	.	365;380;329;192	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	H	329;365;371;321;321;192	ENSP00000290209:R329H;ENSP00000380819:R365H;ENSP00000380814:R321H;ENSP00000387725:R321H;ENSP00000390199:R192H	ENSP00000290209:R329H	R	-	2	0	SLC12A6	32331857	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	7.651000	0.83577	2.890000	0.99128	0.585000	0.79938	CGC		0.383	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1		NM_005135		23	40	0	0	0	0.007291	0	23	40		
OIP5	11339	broad.mit.edu	37	15	41624731	41624731	+	Nonsense_Mutation	SNP	G	G	C	rs201962885		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:41624731G>C	ENST00000220514.3	-	1	88	c.29C>G	c.(28-30)tCa>tGa	p.S10*	NUSAP1_ENST00000560177.1_5'Flank|NUSAP1_ENST00000450318.1_5'Flank|NUSAP1_ENST00000559596.1_5'Flank|NUSAP1_ENST00000260359.6_5'Flank|NUSAP1_ENST00000414849.2_5'Flank|NUSAP1_ENST00000560747.1_5'Flank|NUSAP1_ENST00000450592.2_5'Flank	NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	10					cell communication (GO:0007154)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	Cajal body (GO:0015030)|chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TGCACAACGTGAGCGATGCCG	0.637																																						uc001znp.2		NaN																	0					0						c.(28-30)TCA>TGA		Opa interacting protein 5		A	stop/SER	1,4405	2.1+/-5.4	0,1,2202	58.0	70.0	66.0		29	-7.5	0.0	15		66	0,8598		0,0,4299	no	stop-gained	OIP5	NM_007280.1		0,1,6501	CC,CG,GG		0.0,0.0227,0.0077		10/230	41624731	1,13003	2203	4299	6502	SO:0001587	stop_gained	11339				cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding	g.chr15:41624731G>C	AF025441	CCDS10074.1	15q14	2011-02-23			ENSG00000104147	ENSG00000104147			20300	protein-coding gene	gene with protein product	"""MIS18 kinetochore protein homolog B (S. pombe)"", ""cancer/testis antigen 86"""	606020				9466265, 17199038	Standard	NM_007280		Approved	MIS18B, hMIS18beta, CT86	uc001znp.3	O43482	OTTHUMG00000130251	ENST00000220514.3:c.29C>G	15.37:g.41624731G>C	ENSP00000220514:p.Ser10*					NUSAP1_uc001znq.3_5'Flank|NUSAP1_uc001znr.3_5'Flank|NUSAP1_uc001zns.3_5'Flank|NUSAP1_uc010bce.2_5'Flank|NUSAP1_uc001znt.3_5'Flank|NUSAP1_uc001znv.3_5'Flank|NUSAP1_uc001znu.3_5'Flank|NUSAP1_uc010ucw.1_5'Flank	p.S10*	NM_007280	NP_009211	O43482	MS18B_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)	1	89	-		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)	10					Q96BX7	Nonsense_Mutation	SNP	ENST00000220514.3	37	c.29C>G	CCDS10074.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	16.75	3.209131	0.58343	2.27E-4	0.0	ENSG00000104147	ENST00000220514	.	.	.	5.65	-7.52	0.01341	.	1.700720	0.03263	N	0.183569	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	0.475	4.1707	0.10327	0.5484:0.1929:0.1613:0.0973	.	.	.	.	X	10	.	ENSP00000220514:S10X	S	-	2	0	OIP5	39412023	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.230000	0.09083	-1.338000	0.02233	-0.812000	0.03155	TCA		0.637	OIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252576.2		NM_007280		59	62	0	0	0	0.01441	0	59	62		
RTF1	23168	broad.mit.edu	37	15	41763545	41763545	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:41763545C>T	ENST00000389629.4	+	8	1213	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	401	Plus3. {ECO:0000255|PROSITE- ProRule:PRU00693}.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		ACCAGTTTACCGGGTTGGTAT	0.443																																						uc001zny.2		NaN																	0				ovary(2)	2						c.(1201-1203)CGG>TGG		Paf1/RNA polymerase II complex component							81.0	72.0	75.0					15																	41763545		2203	4300	6503	SO:0001583	missense	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41763545C>T	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1201C>T	15.37:g.41763545C>T	ENSP00000374280:p.Arg401Trp						p.R401W	NM_015138	NP_055953	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	8	1213	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	401	R->E: Loss of binding to single-stranded DNA.		Plus3.		Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	c.1201C>T	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140899	0.77775	.	.	ENSG00000137815	ENST00000389629	.	.	.	6.02	5.1	0.69264	Plus-3 domain, subgroup (1);Plus-3 (2);	0.000000	0.85682	D	0.000000	D	0.84302	0.5442	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87132	0.2197	9	0.59425	D	0.04	-10.4525	13.9233	0.63945	0.3918:0.6082:0.0:0.0	.	401	Q92541	RTF1_HUMAN	W	401	.	ENSP00000374280:R401W	R	+	1	2	RTF1	39550837	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.565000	0.36386	1.548000	0.49413	0.655000	0.94253	CGG		0.443	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1		NM_015138		27	31	0	0	0	0.007291	0	27	31		
PDIA3	2923	broad.mit.edu	37	15	44057680	44057680	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:44057680C>G	ENST00000300289.5	+	6	783	c.635C>G	c.(634-636)aCt>aGt	p.T212S	PDIA3_ENST00000538521.1_Missense_Mutation_p.T192S	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	212					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)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		TCACATCTCACTAACAAGTTT	0.348																																						uc001zsu.2		NaN																	0				ovary(1)|skin(1)	2						c.(634-636)ACT>AGT		protein disulfide-isomerase A3 precursor							111.0	112.0	112.0					15																	44057680		2198	4298	6496	SO:0001583	missense	2923				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr15:44057680C>G		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.635C>G	15.37:g.44057680C>G	ENSP00000300289:p.Thr212Ser					PDIA3_uc010bdp.2_Missense_Mutation_p.T192S|PDIA3_uc010ued.1_5'UTR	p.T212S	NM_005313	NP_005304	P30101	PDIA3_HUMAN		GBM - Glioblastoma multiforme(94;9.48e-07)	6	783	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	212					Q13453|Q14255|Q8IYF8|Q9UMU7	Missense_Mutation	SNP	ENST00000300289.5	37	c.635C>G	CCDS10101.1	.	.	.	.	.	.	.	.	.	.	C	0.152	-1.090788	0.01858	.	.	ENSG00000167004	ENST00000300289;ENST00000538826;ENST00000538521	T;T	0.03860	3.78;3.88	5.93	-5.72	0.02406	Thioredoxin-like fold (2);	0.945152	0.09106	N	0.847721	T	0.02970	0.0088	N	0.16790	0.44	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48433	-0.9036	10	0.07030	T	0.85	.	16.5001	0.84255	0.0995:0.8062:0.0:0.0943	.	192;212	G5EA52;P30101	.;PDIA3_HUMAN	S	212;187;192	ENSP00000300289:T212S;ENSP00000438260:T192S	ENSP00000300289:T212S	T	+	2	0	PDIA3	41844972	0.000000	0.05858	0.006000	0.13384	0.182000	0.23217	-0.227000	0.09126	-0.955000	0.03636	-0.334000	0.08254	ACT		0.348	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3		NM_005313		33	46	0	0	0	0.005524	0	33	46		
SLC27A2	11001	broad.mit.edu	37	15	50519256	50519256	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:50519256G>C	ENST00000267842.5	+	7	1570	c.1338G>C	c.(1336-1338)gaG>gaC	p.E446D	SLC27A2_ENST00000380902.4_Missense_Mutation_p.E393D|SLC27A2_ENST00000544960.1_Missense_Mutation_p.E211D	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	446					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CTCAGACAGAGAAGAAAAAAC	0.383																																						uc001zxw.2		NaN																	0				ovary(1)|skin(1)	2						c.(1336-1338)GAG>GAC		solute carrier family 27 (fatty acid							81.0	81.0	81.0					15																	50519256		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50519256G>C	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1338G>C	15.37:g.50519256G>C	ENSP00000267842:p.Glu446Asp					SLC27A2_uc010bes.2_Missense_Mutation_p.E393D|SLC27A2_uc001zxx.2_Missense_Mutation_p.E211D	p.E446D	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	7	1570	+		all_lung(180;0.00177)	446			Cytoplasmic (Potential).		A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.1338G>C	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.958353	0.74016	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.50548	0.74;0.96;0.96	5.78	3.74	0.42951	AMP-dependent synthetase/ligase (1);	0.049847	0.85682	D	0.000000	T	0.55893	0.1949	L	0.58969	1.84	0.49915	D	0.999831	B;D	0.55172	0.195;0.97	B;P	0.59546	0.346;0.859	T	0.53809	-0.8386	10	0.52906	T	0.07	.	7.1489	0.25599	0.3059:0.0:0.6941:0.0	.	393;446	Q6PF09;O14975	.;S27A2_HUMAN	D	393;446;211	ENSP00000370289:E393D;ENSP00000267842:E446D;ENSP00000444549:E211D	ENSP00000267842:E446D	E	+	3	2	SLC27A2	48306548	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.247000	0.43151	0.637000	0.30526	0.655000	0.94253	GAG		0.383	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2		NM_003645		10	13	0	0	0	0.008291	0	10	13		
TMOD2	29767	broad.mit.edu	37	15	52090495	52090495	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:52090495G>A	ENST00000249700.4	+	8	1055	c.834G>A	c.(832-834)ctG>ctA	p.L278L	TMOD2_ENST00000435126.2_Silent_p.L242L|TMOD2_ENST00000539962.2_Silent_p.L234L	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	278					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		TAGAGGCACTGAAAGAAAATG	0.453																																						uc002abk.2		NaN																	0				ovary(2)	2						c.(832-834)CTG>CTA		neuronal tropomodulin isoform a							75.0	68.0	70.0					15																	52090495		2195	4293	6488	SO:0001819	synonymous_variant	29767				nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr15:52090495G>A	AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.834G>A	15.37:g.52090495G>A						TMOD2_uc002abl.3_Silent_p.L242L|TMOD2_uc010bfb.2_Silent_p.L234L	p.L278L	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN		all cancers(107;0.00435)	8	1055	+			278					B4DEW6	Silent	SNP	ENST00000249700.4	37	c.834G>A	CCDS10144.1																																																																																				0.453	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2				9	22	0	0	0	0.013537	0	9	22		
HERC1	8925	broad.mit.edu	37	15	64048748	64048748	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:64048748G>A	ENST00000443617.2	-	5	1508	c.1421C>T	c.(1420-1422)aCg>aTg	p.T474M		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	474					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCCTTCTGTCGTAAAGGCTAA	0.393																																						uc002amp.2		NaN																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(1420-1422)ACG>ATG		hect domain and RCC1-like domain 1							108.0	101.0	103.0					15																	64048748		1878	4100	5978	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64048748G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.1421C>T	15.37:g.64048748G>A	ENSP00000390158:p.Thr474Met					HERC1_uc010uil.1_Intron|HERC1_uc010bgt.1_Missense_Mutation_p.T474M	p.T474M	NM_003922	NP_003913	Q15751	HERC1_HUMAN			5	1569	-			474			WD 1.|RCC1 2.		Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.1421C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807207	0.90623	.	.	ENSG00000103657	ENST00000443617	D	0.83591	-1.74	5.14	5.14	0.70334	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	U	0.000000	D	0.91882	0.7430	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.92773	0.6234	10	0.72032	D	0.01	.	18.9606	0.92676	0.0:0.0:1.0:0.0	.	474;474	C9JUT5;Q15751	.;HERC1_HUMAN	M	474	ENSP00000390158:T474M	ENSP00000390158:T474M	T	-	2	0	HERC1	61835801	1.000000	0.71417	0.959000	0.39883	0.984000	0.73092	9.779000	0.99018	2.554000	0.86153	0.561000	0.74099	ACG		0.393	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922		31	29	0	0	0	0.012213	0	31	29		
DENND4A	10260	broad.mit.edu	37	15	65982875	65982875	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:65982875C>G	ENST00000431932.2	-	22	4133	c.3925G>C	c.(3925-3927)Gat>Cat	p.D1309H	DENND4A_ENST00000567323.1_5'UTR|DENND4A_ENST00000443035.3_Missense_Mutation_p.D1352H	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1309					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AGTAGTGTATCTAAGTTAAAT	0.398																																						uc002aph.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(3925-3927)GAT>CAT		DENN/MADD domain containing 4A isoform 2							118.0	111.0	114.0					15																	65982875		1905	4124	6029	SO:0001583	missense	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65982875C>G	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.3925G>C	15.37:g.65982875C>G	ENSP00000396830:p.Asp1309His					DENND4A_uc002api.2_Missense_Mutation_p.D1352H|DENND4A_uc002apj.3_Missense_Mutation_p.D1309H	p.D1309H	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN			22	4303	-			1309					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	c.3925G>C	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202798	0.79127	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.17854	2.35;2.25	5.46	5.46	0.80206	.	0.704071	0.14027	N	0.346387	T	0.43964	0.1271	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.22138	-1.0225	10	0.72032	D	0.01	.	19.3125	0.94195	0.0:1.0:0.0:0.0	.	1352;1309	E7EPL3;Q7Z401	.;MYCPP_HUMAN	H	1352;1309	ENSP00000391167:D1352H;ENSP00000396830:D1309H	ENSP00000396830:D1309H	D	-	1	0	DENND4A	63769929	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.184000	0.77705	2.576000	0.86940	0.650000	0.86243	GAT		0.398	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1		NM_005848		23	32	0	0	0	0.010818	0	23	32		
ITGA11	22801	broad.mit.edu	37	15	68649618	68649618	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:68649618C>G	ENST00000315757.7	-	7	706	c.620G>C	c.(619-621)gGc>gCc	p.G207A	ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000423218.2_Missense_Mutation_p.G207A	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	207	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CACATCTTCGCCATACTGCAC	0.507																																						uc002ari.2		NaN																	0				kidney(2)|pancreas(1)	3						c.(619-621)GGC>GCC		integrin, alpha 11 precursor	Tirofiban(DB00775)						88.0	90.0	89.0					15																	68649618		2070	4205	6275	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68649618C>G	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.620G>C	15.37:g.68649618C>G	ENSP00000327290:p.Gly207Ala					ITGA11_uc010bib.2_Missense_Mutation_p.G207A	p.G207A	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			7	707	-			207			VWFA.|Extracellular (Potential).		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.620G>C	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541837	0.65198	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000537153	T;T	0.54071	0.59;0.59	5.09	5.09	0.68999	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.65080	0.2657	L	0.38733	1.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.68341	-0.5434	10	0.72032	D	0.01	.	17.5009	0.87731	0.0:1.0:0.0:0.0	.	207;207	A8K8T0;Q9UKX5	.;ITA11_HUMAN	A	207	ENSP00000327290:G207A;ENSP00000403392:G207A	ENSP00000327290:G207A	G	-	2	0	ITGA11	66436672	1.000000	0.71417	0.999000	0.59377	0.222000	0.24845	7.770000	0.85390	2.368000	0.80403	0.561000	0.74099	GGC		0.507	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_012211		43	59	0	0	0	0.01441	0	43	59		
SIN3A	25942	broad.mit.edu	37	15	75668200	75668200	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:75668200T>C	ENST00000394947.3	-	20	3711	c.3397A>G	c.(3397-3399)Atc>Gtc	p.I1133V	SIN3A_ENST00000394949.4_Missense_Mutation_p.I1133V|SIN3A_ENST00000360439.4_Missense_Mutation_p.I1133V	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CACTTCCGGATCCGCCGTAGA	0.493																																						uc002bai.2		NaN																	0				skin(3)|ovary(1)|lung(1)	5						c.(3397-3399)ATC>GTC		transcriptional co-repressor Sin3A							137.0	131.0	133.0					15																	75668200		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75668200T>C	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.3397A>G	15.37:g.75668200T>C	ENSP00000378402:p.Ile1133Val					SIN3A_uc002baj.2_Missense_Mutation_p.I1133V|SIN3A_uc010uml.1_Missense_Mutation_p.I1133V	p.I1133V	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN			20	3656	-			1133						Missense_Mutation	SNP	ENST00000394947.3	37	c.3397A>G	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.363535	0.41902	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.40225	1.04;1.04;1.04	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	L	0.48362	1.52	0.80722	D	1	B	0.25955	0.138	B	0.24006	0.05	T	0.13308	-1.0514	10	0.16896	T	0.51	-15.4644	14.2605	0.66083	0.0:0.0:0.0:1.0	.	1133	Q96ST3	SIN3A_HUMAN	V	1133	ENSP00000378402:I1133V;ENSP00000378403:I1133V;ENSP00000353622:I1133V	ENSP00000353622:I1133V	I	-	1	0	SIN3A	73455253	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.082000	0.57635	1.980000	0.57719	0.533000	0.62120	ATC		0.493	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1		NM_015477		19	95	0	0	0	0.01441	0	19	95		
SIN3A	25942	broad.mit.edu	37	15	75676654	75676654	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:75676654G>T	ENST00000394947.3	-	17	3460	c.3146C>A	c.(3145-3147)aCg>aAg	p.T1049K	SIN3A_ENST00000394949.4_Missense_Mutation_p.T1049K|SIN3A_ENST00000360439.4_Missense_Mutation_p.T1049K	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CCGCTGATACGTTGACTCCAG	0.493																																						uc002bai.2		NaN																	0				skin(3)|ovary(1)|lung(1)	5						c.(3145-3147)ACG>AAG		transcriptional co-repressor Sin3A							127.0	131.0	130.0					15																	75676654		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75676654G>T	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.3146C>A	15.37:g.75676654G>T	ENSP00000378402:p.Thr1049Lys					SIN3A_uc002baj.2_Missense_Mutation_p.T1049K|SIN3A_uc010uml.1_Missense_Mutation_p.T1049K	p.T1049K	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN			17	3405	-			1049						Missense_Mutation	SNP	ENST00000394947.3	37	c.3146C>A	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436215	0.62955	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.41400	1.0;1.0;1.0	6.0	6.0	0.97389	.	0.355926	0.35436	N	0.003210	T	0.24160	0.0585	N	0.14661	0.345	0.80722	D	1	B	0.31040	0.305	B	0.27608	0.081	T	0.09930	-1.0652	10	0.08179	T	0.78	-4.8966	14.3917	0.66983	0.0:0.0:0.8525:0.1475	.	1049	Q96ST3	SIN3A_HUMAN	K	1049	ENSP00000378402:T1049K;ENSP00000378403:T1049K;ENSP00000353622:T1049K	ENSP00000353622:T1049K	T	-	2	0	SIN3A	73463707	0.890000	0.30428	0.666000	0.29783	0.987000	0.75469	4.718000	0.61930	2.868000	0.98415	0.556000	0.70494	ACG		0.493	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1		NM_015477		8	144	1	0	4.1943e-16	0.008291	4.44686e-16	8	144		
PTPN9	5780	broad.mit.edu	37	15	75798201	75798201	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:75798201G>A	ENST00000306726.2	-	7	1295	c.783C>T	c.(781-783)ttC>ttT	p.F261F	PTPN9_ENST00000564970.1_5'Flank	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	261					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGATCTCATCGAAGGGATCTG	0.527																																						uc002bal.2		NaN																	0				lung(1)|skin(1)	2						c.(781-783)TTC>TTT		protein tyrosine phosphatase, non-receptor type							113.0	103.0	107.0					15																	75798201		2197	4294	6491	SO:0001819	synonymous_variant	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75798201G>A		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.783C>T	15.37:g.75798201G>A							p.F261F	NM_002833	NP_002824	P43378	PTN9_HUMAN			7	1291	-			261					Q53XR9	Silent	SNP	ENST00000306726.2	37	c.783C>T	CCDS10280.1																																																																																				0.527	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1				23	46	0	0	0	0.005443	0	23	46		
ACAN	176	broad.mit.edu	37	15	89398558	89398558	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:89398558G>A	ENST00000561243.1	+	11	2742	c.2742G>A	c.(2740-2742)gtG>gtA	p.V914V	ACAN_ENST00000559004.1_Silent_p.V914V|ACAN_ENST00000439576.2_Silent_p.V914V|ACAN_ENST00000352105.7_Silent_p.V914V			P16112	PGCA_HUMAN	aggrecan	913	CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCCTGCCTGTGGAAAGTGGAC	0.587																																						uc010upo.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2740-2742)GTG>GTA		aggrecan isoform 2 precursor							42.0	47.0	45.0					15																	89398558		1970	4149	6119	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89398558G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2742G>A	15.37:g.89398558G>A						ACAN_uc010upp.1_Silent_p.V914V|ACAN_uc002bna.2_RNA	p.V914V	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	3116	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		914					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.2742G>A	CCDS53970.1																																																																																				0.587	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2		NM_001135		12	16	0	0	0	0.003163	0	12	16		
IQGAP1	8826	broad.mit.edu	37	15	91025471	91025471	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr15:91025471G>A	ENST00000268182.5	+	28	3637	c.3513G>A	c.(3511-3513)ttG>ttA	p.L1171L	IQGAP1_ENST00000560738.1_Silent_p.L599L	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1171	C1.|Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGGACTCGTTGCATGAGAAGT	0.502											OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002bpl.1		NaN																	0				ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8						c.(3511-3513)TTG>TTA		IQ motif containing GTPase activating protein 1							128.0	112.0	117.0					15																	91025471		2198	4298	6496	SO:0001819	synonymous_variant	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91025471G>A	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3513G>A	15.37:g.91025471G>A			OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1279		p.L1171L	NM_003870	NP_003861	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		28	3614	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1171			Ras-GAP.|C1.		A7MBM3	Silent	SNP	ENST00000268182.5	37	c.3513G>A	CCDS10362.1																																																																																				0.502	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1		NM_003870		41	65	0	0	0	0.01441	0	41	65		
CHTF18	63922	broad.mit.edu	37	16	847068	847068	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:847068G>C	ENST00000262315.9	+	20	2772	c.2709G>C	c.(2707-2709)atG>atC	p.M903I	CHTF18_ENST00000455171.2_Missense_Mutation_p.M931I|CHTF18_ENST00000317063.6_Missense_Mutation_p.M1112I	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	903					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				AGCACATCATGAGGCGAGCGG	0.672																																						uc002cke.3		NaN																	0				kidney(1)	1						c.(2707-2709)ATG>ATC		CTF18, chromosome transmission fidelity factor							35.0	45.0	42.0					16																	847068		2048	4199	6247	SO:0001583	missense	63922				cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr16:847068G>C	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.2709G>C	16.37:g.847068G>C	ENSP00000262315:p.Met903Ile					CHTF18_uc002ckf.3_Missense_Mutation_p.M931I|CHTF18_uc010brf.2_Missense_Mutation_p.M485I|CHTF18_uc002ckg.3_Missense_Mutation_p.M421I	p.M903I	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN			20	2772	+		Hepatocellular(780;0.00335)	903					B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	c.2709G>C	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	G	2.244	-0.373194	0.05034	.	.	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.09817	2.94;2.99;2.99	4.42	2.29	0.28610	.	0.314292	0.33834	N	0.004515	T	0.05593	0.0147	N	0.14661	0.345	0.19300	N	0.999974	B;B	0.14438	0.01;0.006	B;B	0.13407	0.009;0.006	T	0.39292	-0.9621	10	0.23302	T	0.38	-15.9098	7.9849	0.30205	0.0925:0.161:0.7465:0.0	.	931;903	Q8WVB6-2;Q8WVB6	.;CTF18_HUMAN	I	1112;931;903	ENSP00000313029:M1112I;ENSP00000406252:M931I;ENSP00000262315:M903I	ENSP00000262315:M903I	M	+	3	0	CHTF18	787069	0.552000	0.26505	0.544000	0.28141	0.563000	0.35712	0.520000	0.22878	0.879000	0.35944	0.313000	0.20887	ATG		0.672	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3		NM_022092		43	48	0	0	0	0.01441	0	43	48		
TPSAB1	7177	broad.mit.edu	37	16	1291238	1291238	+	Missense_Mutation	SNP	G	G	C	rs539365257		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:1291238G>C	ENST00000338844.3	+	3	179	c.146G>C	c.(145-147)aGa>aCa	p.R49T	TPSAB1_ENST00000461509.2_Missense_Mutation_p.R56T	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	49	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				GTGAGCCTGAGAGTCCACGGC	0.706																																						uc002ckz.2		NaN																	0					0						c.(145-147)AGA>ACA		tryptase alpha/beta 1 precursor							64.0	62.0	62.0					16																	1291238		2199	4300	6499	SO:0001583	missense	7177				defense response|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr16:1291238G>C	M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"""tryptase alpha II"", ""tryptase beta I"", ""tryptase-I"", ""tryptase-II"", ""tryptase-III"""	191080	"""tryptase beta 1"""	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.146G>C	16.37:g.1291238G>C	ENSP00000343577:p.Arg49Thr					TPSAB1_uc010uux.1_5'UTR	p.R49T	NM_003294	NP_003285	Q15661	TRYB1_HUMAN			3	198	+		Hepatocellular(780;0.00369)	49			Peptidase S1.		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	ENST00000338844.3	37	c.146G>C	CCDS10431.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595578	0.46318	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	D;D	0.88277	-2.36;-2.36	3.9	2.84	0.33178	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.47455	D	0.000232	D	0.90219	0.6942	L	0.42245	1.32	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80527	-0.1343	10	0.62326	D	0.03	.	8.2153	0.31507	0.0:0.0:0.762:0.238	.	49	Q15661	TRYB1_HUMAN	T	49;56	ENSP00000343577:R49T;ENSP00000418247:R56T	ENSP00000343577:R49T	R	+	2	0	TPSAB1	1231239	0.001000	0.12720	0.310000	0.25168	0.063000	0.16089	1.084000	0.30828	1.905000	0.55150	0.479000	0.44913	AGA		0.706	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000206914.1		NM_003294		27	55	0	0	0	0.010818	0	27	55		
SYNGR3	9143	broad.mit.edu	37	16	2042986	2042986	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:2042986C>T	ENST00000248121.2	+	4	761	c.603C>T	c.(601-603)ggC>ggT	p.G201G	SYNGR3_ENST00000562045.1_3'UTR	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	201					positive regulation of transporter activity (GO:0032411)|substantia nigra development (GO:0021762)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|synaptic vesicle (GO:0008021)				endometrium(1)|lung(2)	3						TGGGCAGCGGCGTGGAGGGCA	0.692																																						uc002cod.2		NaN																	0					0						c.(601-603)GGC>GGT		synaptogyrin 3							25.0	23.0	24.0					16																	2042986		2193	4295	6488	SO:0001819	synonymous_variant	9143				positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle		g.chr16:2042986C>T	AJ002309	CCDS10456.1	16p13.3	2008-05-19			ENSG00000127561	ENSG00000127561			11501	protein-coding gene	gene with protein product		603927				9760194	Standard	NM_004209		Approved		uc002cod.3	O43761	OTTHUMG00000128711	ENST00000248121.2:c.603C>T	16.37:g.2042986C>T							p.G201G	NM_004209	NP_004200	O43761	SNG3_HUMAN			4	739	+			201					B2R9S0	Silent	SNP	ENST00000248121.2	37	c.603C>T	CCDS10456.1																																																																																				0.692	SYNGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250616.1				13	26	0	0	0	0.008871	0	13	26		
ZNF200	7752	broad.mit.edu	37	16	3274554	3274554	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:3274554C>G	ENST00000431561.3	-	5	1138	c.526G>C	c.(526-528)Gat>Cat	p.D176H	ZNF200_ENST00000396871.4_Missense_Mutation_p.D175H|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000414144.2_Missense_Mutation_p.D176H|ZNF200_ENST00000396870.4_Missense_Mutation_p.D175H|ZNF200_ENST00000396868.3_Missense_Mutation_p.D175H|ZNF200_ENST00000575948.1_Missense_Mutation_p.D175H	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						TCTCTATAATCTTCATTTTCT	0.398																																						uc002cuj.2		NaN																	0					0						c.(526-528)GAT>CAT		zinc finger protein 200 isoform 1							89.0	89.0	89.0					16																	3274554		2197	4300	6497	SO:0001583	missense	7752				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr16:3274554C>G	AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.526G>C	16.37:g.3274554C>G	ENSP00000395723:p.Asp176His					ZNF200_uc002cum.3_Missense_Mutation_p.D175H|ZNF200_uc010bti.2_Missense_Mutation_p.D175H|ZNF200_uc002cuk.2_Missense_Mutation_p.D176H|ZNF200_uc002cui.2_Missense_Mutation_p.D175H|ZNF200_uc002cul.3_Missense_Mutation_p.D175H	p.D176H	NM_003454	NP_003445	P98182	ZN200_HUMAN			5	1158	-			176					D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Missense_Mutation	SNP	ENST00000431561.3	37	c.526G>C	CCDS10497.1	.	.	.	.	.	.	.	.	.	.	C	9.410	1.080360	0.20309	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	T;T;T	0.06449	3.3;3.31;3.36	5.0	0.896	0.19253	.	0.503518	0.16736	N	0.201625	T	0.05273	0.0140	L	0.29908	0.895	0.09310	N	0.999993	B;B;P	0.36837	0.435;0.435;0.571	B;B;B	0.38755	0.146;0.146;0.281	T	0.35400	-0.9790	10	0.42905	T	0.14	-19.4369	7.2082	0.25919	0.0:0.6458:0.0:0.3542	.	175;176;175	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	H	176;175;175;175;176	ENSP00000380077:D175H;ENSP00000380080:D175H;ENSP00000395723:D176H	ENSP00000380077:D175H	D	-	1	0	ZNF200	3214555	0.002000	0.14202	0.042000	0.18584	0.029000	0.11900	0.674000	0.25218	0.035000	0.15519	0.455000	0.32223	GAT		0.398	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1				3	41	0	0	0	0.004672	0	3	41		
PPL	5493	broad.mit.edu	37	16	4938143	4938143	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:4938143C>T	ENST00000345988.2	-	20	2563	c.2474G>A	c.(2473-2475)aGa>aAa	p.R825K	PPL_ENST00000590782.2_Missense_Mutation_p.R823K	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	825					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GAGCCTGGCTCTCTTGCTCAC	0.562																																						uc002cyd.1		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2473-2475)AGA>AAA		periplakin							140.0	119.0	126.0					16																	4938143		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4938143C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2474G>A	16.37:g.4938143C>T	ENSP00000340510:p.Arg825Lys						p.R825K	NM_002705	NP_002696	O60437	PEPL_HUMAN			20	2564	-			825			Spectrin 4.		O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.2474G>A	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736087	0.49045	.	.	ENSG00000118898	ENST00000345988	T	0.54675	0.56	5.21	2.22	0.28083	.	0.109450	0.64402	N	0.000009	T	0.36082	0.0954	L	0.33245	0.995	0.39427	D	0.967013	B	0.06786	0.001	B	0.08055	0.003	T	0.12528	-1.0544	10	0.20519	T	0.43	.	8.878	0.35356	0.0:0.6787:0.0:0.3213	.	825	O60437	PEPL_HUMAN	K	825	ENSP00000340510:R825K	ENSP00000340510:R825K	R	-	2	0	PPL	4878144	0.877000	0.30153	0.993000	0.49108	0.909000	0.53808	1.569000	0.36428	0.607000	0.29982	0.561000	0.74099	AGA		0.562	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1		NM_002705		41	41	0	0	0	0.01441	0	41	41		
NOMO1	23420	broad.mit.edu	37	16	14969017	14969017	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:14969017G>A	ENST00000287667.7	+	19	2350	c.2179G>A	c.(2179-2181)Gag>Aag	p.E727K		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	727						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						AAACGGCAATGAGGAAGGCGA	0.567																																						uc002dcv.2		NaN																	0				ovary(1)	1						c.(2179-2181)GAG>AAG		nodal modulator 1 precursor							234.0	240.0	238.0					16																	14969017		2197	4299	6496	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14969017G>A	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.2179G>A	16.37:g.14969017G>A	ENSP00000287667:p.Glu727Lys						p.E727K	NM_014287	NP_055102	Q15155	NOMO1_HUMAN			19	2245	+			727			Extracellular (Potential).		P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.2179G>A	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	9.974	1.226189	0.22542	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.04406	3.63	2.86	2.86	0.33363	.	0.219971	0.45867	D	0.000340	T	0.01695	0.0054	N	0.02539	-0.55	0.52501	D	0.99995	B	0.32245	0.361	B	0.26770	0.073	T	0.50874	-0.8776	10	0.06494	T	0.89	-5.7098	11.5317	0.50614	0.0:0.0:1.0:0.0	.	727	Q15155	NOMO1_HUMAN	K	727;727;560	ENSP00000287667:E727K	ENSP00000287667:E727K	E	+	1	0	NOMO1	14876518	1.000000	0.71417	0.008000	0.14137	0.076000	0.17211	5.541000	0.67212	1.590000	0.49995	0.184000	0.17185	GAG		0.567	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1				78	169	0	0	0	0.01441	0	78	169		
DNAH3	55567	broad.mit.edu	37	16	20990840	20990840	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:20990840C>G	ENST00000261383.3	-	50	7887	c.7888G>C	c.(7888-7890)Gag>Cag	p.E2630Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2630	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGACGCTCTCTTGGAAATAT	0.463																																						uc010vbe.1		NaN																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(7888-7890)GAG>CAG		dynein, axonemal, heavy chain 3							166.0	136.0	146.0					16																	20990840		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20990840C>G	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7888G>C	16.37:g.20990840C>G	ENSP00000261383:p.Glu2630Gln					DNAH3_uc010vbd.1_Missense_Mutation_p.E65Q	p.E2630Q	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	50	7888	-			2630			AAA 4 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.7888G>C	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752391	0.31046	.	.	ENSG00000158486	ENST00000261383	T	0.39056	1.1	6.06	6.06	0.98353	Dynein heavy chain, P-loop containing D4 domain (1);	0.141023	0.49916	D	0.000127	T	0.40322	0.1112	N	0.12831	0.26	0.80722	D	1	D	0.59767	0.986	P	0.55260	0.772	T	0.11324	-1.0592	10	0.11182	T	0.66	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	2630	Q8TD57	DYH3_HUMAN	Q	2630	ENSP00000261383:E2630Q	ENSP00000261383:E2630Q	E	-	1	0	DNAH3	20898341	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	3.719000	0.54926	2.880000	0.98712	0.650000	0.86243	GAG		0.463	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		42	51	0	0	0	0.01441	0	42	51		
ITGAX	3687	broad.mit.edu	37	16	31383090	31383090	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:31383090C>T	ENST00000268296.4	+	17	2266	c.2145C>T	c.(2143-2145)ttC>ttT	p.F715F	ITGAX_ENST00000562522.1_Silent_p.F715F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	715					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GTGAAAACTTCAACCTGCTGC	0.647																																						uc002ebu.1		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2143-2145)TTC>TTT		integrin alpha X precursor							58.0	50.0	53.0					16																	31383090		2197	4300	6497	SO:0001819	synonymous_variant	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31383090C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2145C>T	16.37:g.31383090C>T						ITGAX_uc002ebt.2_Silent_p.F715F	p.F715F	NM_000887	NP_000878	P20702	ITAX_HUMAN			17	2212	+			715			Extracellular (Potential).		Q8IVA6	Silent	SNP	ENST00000268296.4	37	c.2145C>T	CCDS10711.1																																																																																				0.647	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2		NM_000887		24	35	0	0	0	0.003271	0	24	35		
DYNC1LI2	1783	broad.mit.edu	37	16	66766331	66766331	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:66766331G>C	ENST00000258198.2	-	7	1046	c.840C>G	c.(838-840)ctC>ctG	p.L280L	DYNC1LI2_ENST00000379482.2_Intron|RP11-63M22.2_ENST00000569274.1_RNA|DYNC1LI2_ENST00000570201.1_5'Flank|DYNC1LI2_ENST00000443351.2_Silent_p.L203L|DYNC1LI2_ENST00000440564.2_Silent_p.L241L	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	280					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		ACAACAAGTCGAGGTTTTTCT	0.373																																						uc002eqb.1		NaN																	0				central_nervous_system(3)|skin(1)	4						c.(838-840)CTC>CTG		dynein, cytoplasmic, light intermediate							114.0	109.0	111.0					16																	66766331		2200	4300	6500	SO:0001819	synonymous_variant	1783				transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	g.chr16:66766331G>C	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.840C>G	16.37:g.66766331G>C						DYNC1LI2_uc010vis.1_Silent_p.L203L|DYNC1LI2_uc010vit.1_Silent_p.L280L|DYNC1LI2_uc010viu.1_Silent_p.L241L	p.L280L	NM_006141	NP_006132	O43237	DC1L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	7	871	-		Ovarian(137;0.0563)	280					A8K6V1|B4DZP4|Q8TAT3	Silent	SNP	ENST00000258198.2	37	c.840C>G	CCDS10818.1																																																																																				0.373	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1		NM_006141		10	23	0	0	0	0.008291	0	10	23		
TMEM231	79583	broad.mit.edu	37	16	75579280	75579280	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:75579280C>T	ENST00000258173.6	-	4	628	c.552G>A	c.(550-552)ctG>ctA	p.L184L	TMEM231_ENST00000565067.1_Intron|RP11-77K12.8_ENST00000564489.1_RNA|TMEM231_ENST00000568377.1_Silent_p.L213L|RP11-77K12.7_ENST00000460606.1_Silent_p.*16*|TMEM231_ENST00000569294.1_5'UTR	NM_001077418.1	NP_001070886.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231	184					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CACCACAGCTCAGCGGCTGCT	0.517																																						uc002fem.2		NaN																	0					0						c.(550-552)CTG>CTA		transmembrane protein 231 isoform 2							105.0	105.0	105.0					16																	75579280		1940	4130	6070	SO:0001819	synonymous_variant	79583					integral to membrane		g.chr16:75579280C>T		CCDS45530.1	16q23.1	2014-01-28			ENSG00000205084	ENSG00000205084			37234	protein-coding gene	gene with protein product		614949				23012439	Standard	NM_001077416		Approved	FLJ22167, ALYE870, PRO1886, JBTS20, MKS11	uc002fek.4	Q9H6L2		ENST00000258173.6:c.552G>A	16.37:g.75579280C>T						CHST5_uc002fej.1_5'UTR|TMEM231_uc002fek.2_Silent_p.L213L|TMEM231_uc002fel.2_Silent_p.L68L|TMEM231_uc010vne.1_Silent_p.L37L|TMEM231_uc010cgx.1_Silent_p.L148L	p.L184L	NM_001077418	NP_001070886	Q9H6L2	TM231_HUMAN			4	615	-			184					A0JLU1|A6NDZ6|B3KU85|G5E9E3|Q6P450|Q6UWW5	Silent	SNP	ENST00000258173.6	37	c.552G>A	CCDS45530.1																																																																																				0.517	TMEM231-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435481.2		NM_001077416		46	72	0	0	0	0.01441	0	46	72		
USP10	9100	broad.mit.edu	37	16	84778635	84778635	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:84778635C>T	ENST00000219473.7	+	4	661	c.548C>T	c.(547-549)tCa>tTa	p.S183L	USP10_ENST00000562743.1_3'UTR|USP10_ENST00000570191.1_Missense_Mutation_p.S187L	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	183					autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CATGCCAATTCAGCAGTCCCG	0.498																																						uc002fii.2		NaN																	0					0						c.(547-549)TCA>TTA		ubiquitin specific protease 10							42.0	40.0	41.0					16																	84778635		1988	4175	6163	SO:0001583	missense	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84778635C>T	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.548C>T	16.37:g.84778635C>T	ENSP00000219473:p.Ser183Leu					USP10_uc010voe.1_Missense_Mutation_p.S187L|USP10_uc010vof.1_Intron|USP10_uc002fij.2_5'UTR	p.S183L	NM_005153	NP_005144	Q14694	UBP10_HUMAN			4	690	+			183					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	c.548C>T	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	C	6.063	0.379896	0.11466	.	.	ENSG00000103194	ENST00000219473	T	0.07444	3.19	5.17	4.22	0.49857	.	1.070220	0.07119	N	0.843624	T	0.13586	0.0329	M	0.62723	1.935	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.003	T	0.26326	-1.0106	10	0.62326	D	0.03	-1.3496	11.0994	0.48166	0.0:0.9141:0.0:0.0859	.	187;183	Q14694-3;Q14694	.;UBP10_HUMAN	L	183	ENSP00000219473:S183L	ENSP00000219473:S183L	S	+	2	0	USP10	83336136	0.000000	0.05858	0.001000	0.08648	0.258000	0.26162	0.879000	0.28146	1.171000	0.42768	0.491000	0.48974	TCA		0.498	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1				35	38	0	0	0	0.01441	0	35	38		
FOXF1	2294	broad.mit.edu	37	16	86544388	86544388	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr16:86544388G>A	ENST00000262426.4	+	1	256	c.213G>A	c.(211-213)ctG>ctA	p.L71L	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	71					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						GCCTGACGCTGAGCGAGATCT	0.627																																						uc002fjl.2		NaN																	0					0						c.(211-213)CTG>CTA		forkhead box F1							59.0	62.0	61.0					16																	86544388		2198	4300	6498	SO:0001819	synonymous_variant	2294				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr16:86544388G>A	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"""Forkhead boxes"""	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.213G>A	16.37:g.86544388G>A						uc002fjk.1_5'Flank	p.L71L	NM_001451	NP_001442	Q12946	FOXF1_HUMAN			1	256	+			71			Fork-head.		B2RAF4|Q5FWE5	Silent	SNP	ENST00000262426.4	37	c.213G>A	CCDS10957.2																																																																																				0.627	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2		NM_001451		37	27	0	0	0	0.013114	0	37	27		
OR3A2	4995	broad.mit.edu	37	17	3181494	3181494	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:3181494C>T	ENST00000408891.2	-	1	774	c.736G>A	c.(736-738)Gcc>Acc	p.A246T	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	246					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						GTGGAGAAGGCCTTCTTTCGG	0.517																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	uc002fvg.2		NaN																	0				ovary(1)	1						c.(736-738)GCC>ACC		olfactory receptor, family 3, subfamily A,							56.0	60.0	59.0					17																	3181494		2203	4300	6503	SO:0001583	missense	4995				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3181494C>T	U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.736G>A	17.37:g.3181494C>T	ENSP00000386180:p.Ala246Thr						p.A246T	NM_002551	NP_002542	P47893	OR3A2_HUMAN			1	775	-			246			Cytoplasmic (Potential).		Q6IFM3|Q9P1Q3	Missense_Mutation	SNP	ENST00000408891.2	37	c.736G>A	CCDS42233.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.716883	0.68844	.	.	ENSG00000221882	ENST00000408891	T	0.00357	7.89	4.9	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000599	T	0.00580	0.0019	M	0.64630	1.985	0.45883	D	0.998732	B	0.32604	0.377	P	0.47941	0.562	T	0.79085	-0.1948	10	0.72032	D	0.01	-11.13	17.1521	0.86781	0.0:1.0:0.0:0.0	.	246	P47893	OR3A2_HUMAN	T	246	ENSP00000386180:A246T	ENSP00000386180:A246T	A	-	1	0	OR3A2	3128244	0.990000	0.36364	0.999000	0.59377	0.045000	0.14185	2.944000	0.49034	2.715000	0.92844	0.561000	0.74099	GCC		0.517	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1				10	16	0	0	0	0.001855	0	10	16		
CHD3	1107	broad.mit.edu	37	17	7797534	7797534	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:7797534C>T	ENST00000330494.7	+	7	1176	c.1026C>T	c.(1024-1026)gtC>gtT	p.V342V	CHD3_ENST00000380358.4_Silent_p.V401V|CHD3_ENST00000358181.4_Silent_p.V342V	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	342					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATGGCCCTGTCCGCACCAAGA	0.557																																						uc002gje.2		NaN																	0				breast(1)	1						c.(1024-1026)GTC>GTT		chromodomain helicase DNA binding protein 3							85.0	72.0	76.0					17																	7797534		2203	4300	6503	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7797534C>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1026C>T	17.37:g.7797534C>T						CHD3_uc002gjd.2_Silent_p.V401V|CHD3_uc002gjf.2_Silent_p.V342V|CHD3_uc002gjg.1_Silent_p.V170V	p.V342V	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			7	1176	+		Prostate(122;0.202)	342					D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.1026C>T	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	8.092	0.774729	0.16051	.	.	ENSG00000170004	ENST00000452447	.	.	.	4.66	1.58	0.23477	.	.	.	.	.	T	0.51176	0.1659	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36237	-0.9756	4	.	.	.	-13.9304	4.718	0.12904	0.1501:0.6049:0.0:0.245	.	.	.	.	S	213	.	.	P	+	1	0	CHD3	7738259	0.237000	0.23815	0.994000	0.49952	0.982000	0.71751	0.040000	0.13905	0.208000	0.20626	0.650000	0.86243	CCG		0.557	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1		NM_001005273		20	4	0	0	0	0.007413	0	20	4		
UBB	7314	broad.mit.edu	37	17	16285453	16285453	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:16285453C>A	ENST00000395837.1	+	2	413	c.232C>A	c.(232-234)Cag>Aag	p.Q78K	UBB_ENST00000578649.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Missense_Mutation_p.Q78K|UBB_ENST00000535788.1_Intron|UBB_ENST00000302182.3_Missense_Mutation_p.Q78K	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	78	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGGTGGTATGCAGATCTTCGT	0.537																																					Melanoma(163;1126 3406 34901)	uc002gpx.2		NaN																	0				skin(3)	3						c.(232-234)CAG>AAG		ubiquitin B precursor							63.0	63.0	63.0					17																	16285453		2203	4297	6500	SO:0001583	missense	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285453C>A		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.232C>A	17.37:g.16285453C>A	ENSP00000379178:p.Gln78Lys					UBB_uc010vwe.1_Intron	p.Q78K	NM_018955	NP_061828	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	370	+			78			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000395837.1	37	c.232C>A	CCDS11177.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904095	0.52333	.	.	ENSG00000170315	ENST00000302182;ENST00000395839;ENST00000395837	T;T;T	0.31247	1.5;1.5;1.5	4.05	4.05	0.47172	Ubiquitin supergroup (1);Ubiquitin (1);	0.000000	0.50627	U	0.000109	T	0.33059	0.0850	L	0.46614	1.455	0.80722	D	1	P	0.38129	0.619	B	0.40741	0.339	T	0.34054	-0.9844	10	0.87932	D	0	.	15.641	0.77001	0.0:1.0:0.0:0.0	.	78	P0CG47	UBB_HUMAN	K	78	ENSP00000304697:Q78K;ENSP00000379180:Q78K;ENSP00000379178:Q78K	ENSP00000304697:Q78K	Q	+	1	0	UBB	16226178	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.966000	0.76073	1.989000	0.58080	0.644000	0.83932	CAG		0.537	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1		NM_018955		3	41	1	0	6.4e-05	0.004672	6.57333e-05	3	41		
UBB	7314	broad.mit.edu	37	17	16285681	16285681	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:16285681C>A	ENST00000395837.1	+	2	641	c.460C>A	c.(460-462)Cag>Aag	p.Q154K	UBB_ENST00000578649.1_3'UTR|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Missense_Mutation_p.Q154K|UBB_ENST00000535788.1_Missense_Mutation_p.Q78K|UBB_ENST00000302182.3_Missense_Mutation_p.Q154K	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	154	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGGTGGTATGCAGATCTTCGT	0.537																																					Melanoma(163;1126 3406 34901)	uc002gpx.2		NaN																	0				skin(3)	3						c.(460-462)CAG>AAG		ubiquitin B precursor							71.0	69.0	70.0					17																	16285681		2203	4298	6501	SO:0001583	missense	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285681C>A		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.460C>A	17.37:g.16285681C>A	ENSP00000379178:p.Gln154Lys					UBB_uc010vwe.1_Missense_Mutation_p.Q78K	p.Q154K	NM_018955	NP_061828	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	598	+			154			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000395837.1	37	c.460C>A	CCDS11177.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323831	0.60634	.	.	ENSG00000170315	ENST00000302182;ENST00000535788;ENST00000395839;ENST00000395837	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	3.83	3.83	0.44106	Ubiquitin supergroup (1);Ubiquitin (1);	0.000000	0.50627	U	0.000109	T	0.28665	0.0710	L	0.46614	1.455	0.80722	D	1	B	0.30889	0.299	B	0.27500	0.08	T	0.27331	-1.0077	10	0.87932	D	0	.	15.1539	0.72723	0.0:1.0:0.0:0.0	.	154	P0CG47	UBB_HUMAN	K	154;78;154;154	ENSP00000304697:Q154K;ENSP00000437475:Q78K;ENSP00000379180:Q154K;ENSP00000379178:Q154K	ENSP00000304697:Q154K	Q	+	1	0	UBB	16226406	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.293000	0.65680	1.886000	0.54624	0.549000	0.68633	CAG		0.537	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1		NM_018955		3	47	1	0	6.4e-05	0.004672	6.57333e-05	3	47		
KCNJ12	3768	broad.mit.edu	37	17	21319000	21319000	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:21319000G>A	ENST00000583088.1	+	3	1241	c.346G>A	c.(346-348)Gag>Aag	p.E116K	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E116K	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	116					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GGAGCCGGCTGAGGGCCGGGG	0.647										Prostate(3;0.18)																												uc002gyv.1		NaN																	0				ovary(3)|skin(1)	4						c.(346-348)GAG>AAG		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						62.0	49.0	53.0					17																	21319000		2203	4300	6503	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319000G>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.346G>A	17.37:g.21319000G>A	ENSP00000463778:p.Glu116Lys	Prostate(3;0.18)					p.E116K	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1051	+			116			Extracellular (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.346G>A	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526618	0.27299	.	.	ENSG00000184185	ENST00000331718	D	0.93763	-3.28	5.23	5.23	0.72850	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.553740	0.14686	U	0.304493	D	0.85164	0.5634	N	0.12182	0.205	0.33493	D	0.588909	B	0.02656	0.0	B	0.04013	0.001	T	0.80804	-0.1219	10	0.10636	T	0.68	.	13.1449	0.59456	0.0772:0.0:0.9228:0.0	.	116	Q14500	IRK12_HUMAN	K	116	ENSP00000328150:E116K	ENSP00000328150:E116K	E	+	1	0	KCNJ12	21259593	1.000000	0.71417	0.513000	0.27749	0.681000	0.39784	5.290000	0.65661	2.448000	0.82819	0.591000	0.81541	GAG		0.647	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2		NM_021012		13	46	0	0	0	0.00499	0	13	46		
GIT1	28964	broad.mit.edu	37	17	27903633	27903633	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:27903633C>T	ENST00000225394.3	-	13	1535	c.1287G>A	c.(1285-1287)ctG>ctA	p.L429L	GIT1_ENST00000579937.1_Silent_p.L429L|GIT1_ENST00000581348.1_Silent_p.L438L|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Silent_p.L438L	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	429					regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GGGCCTTCTTCAGCTCCAGGT	0.617																																					Colon(81;41 1719 20078 35068)	uc002hef.2		NaN																	0					0						c.(1285-1287)CTG>CTA		G protein-coupled receptor kinase interactor 1							79.0	72.0	74.0					17																	27903633		2203	4300	6503	SO:0001819	synonymous_variant	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27903633C>T	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.1287G>A	17.37:g.27903633C>T						GIT1_uc002heg.2_Silent_p.L438L|GIT1_uc010wbg.1_Silent_p.L438L|GIT1_uc010csb.1_Silent_p.L429L	p.L429L	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	13	1501	-			429					B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Silent	SNP	ENST00000225394.3	37	c.1287G>A	CCDS11250.1																																																																																				0.617	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1		NM_014030		25	30	0	0	0	0.005443	0	25	30		
CORO6	84940	broad.mit.edu	37	17	27946116	27946116	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:27946116G>C	ENST00000445145.2	-	3	414	c.413C>G	c.(412-414)tCc>tGc	p.S138C	CORO6_ENST00000388767.3_Missense_Mutation_p.S138C|RP11-68I3.10_ENST00000582367.1_RNA|CORO6_ENST00000580212.1_Missense_Mutation_p.S138C|CORO6_ENST00000584969.1_Missense_Mutation_p.S138C|CORO6_ENST00000456796.3_5'Flank|CORO6_ENST00000345068.5_Missense_Mutation_p.S138C|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_Intron			Q6QEF8	CORO6_HUMAN	coronin 6	138					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						AGGGTGCCAGGAGAGGATGCC	0.597																																						uc002hel.2		NaN																	0					0						c.(412-414)TCC>TGC		coronin 6							44.0	48.0	47.0					17																	27946116		2071	4245	6316	SO:0001583	missense	84940				actin cytoskeleton organization	actin cytoskeleton	actin filament binding	g.chr17:27946116G>C	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.413C>G	17.37:g.27946116G>C	ENSP00000393624:p.Ser138Cys					CORO6_uc002hem.2_5'Flank|CORO6_uc002hen.2_5'Flank	p.S138C	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN			3	415	-			138			WD 2.		B3KU26|Q71MF3|Q8WYH7|Q96K02	Missense_Mutation	SNP	ENST00000445145.2	37	c.413C>G		.	.	.	.	.	.	.	.	.	.	G	12.22	1.873289	0.33069	.	.	ENSG00000167549	ENST00000345068;ENST00000388767;ENST00000445145	T;T	0.62105	0.05;0.05	5.84	4.86	0.63082	.	0.276496	0.35466	N	0.003182	T	0.55609	0.1931	L	0.38649	1.16	0.80722	D	1	B	0.14805	0.011	B	0.17979	0.02	T	0.53711	-0.8400	10	0.62326	D	0.03	-0.3572	16.7169	0.85399	0.0:0.1296:0.8704:0.0	.	138	Q6QEF8-5	.	C	209;138;138	ENSP00000373419:S138C;ENSP00000393624:S138C	ENSP00000344562:S209C	S	-	2	0	CORO6	24970242	0.991000	0.36638	1.000000	0.80357	0.996000	0.88848	1.919000	0.40015	1.463000	0.47967	0.561000	0.74099	TCC		0.597	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1		NM_032854		26	31	0	0	0	0.003954	0	26	31		
LYZL6	57151	broad.mit.edu	37	17	34261801	34261801	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:34261801C>T	ENST00000585556.1	-	5	780	c.446G>A	c.(445-447)tGa>tAa	p.*149*	LYZL6_ENST00000293274.4_Silent_p.*149*|LYZL6_ENST00000492340.2_5'Flank|LYZL6_ENST00000394523.3_Silent_p.*149*			O75951	LYZL6_HUMAN	lysozyme-like 6	0					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CACCCTGTTTCATCTCAGGCG	0.512																																						uc002hkj.1		NaN																	0					0						c.(445-447)TGA>TAA		lysozyme-like 6 precursor							80.0	71.0	74.0					17																	34261801		2203	4300	6503	SO:0001819	synonymous_variant	57151				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr17:34261801C>T	AF088219, AY742214	CCDS11302.1	17q11.2	2014-04-10			ENSG00000161572	ENSG00000275722			29614	protein-coding gene	gene with protein product		612751				10213461	Standard	NM_020426		Approved	LYC1, PRO1485, TKAL754	uc002hkj.2	O75951	OTTHUMG00000188400	ENST00000585556.1:c.446G>A	17.37:g.34261801C>T						LYZL6_uc002hkk.1_Silent_p.*149*	p.*149*	NM_020426	NP_065159	O75951	LYZL6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	596	-			149					Q6UW30	Silent	SNP	ENST00000585556.1	37	c.446G>A	CCDS11302.1																																																																																				0.512	LYZL6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256578.2		NM_020426		40	53	0	0	0	0.01441	0	40	53		
TBC1D3B	414059	broad.mit.edu	37	17	34499268	34499268	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:34499268T>C	ENST00000454519.3	-	7	592	c.443A>G	c.(442-444)gAc>gGc	p.D148G	CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Missense_Mutation_p.D148G	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	148	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCGCTTATGTCCCGGTCGAT	0.547																																						uc002hky.2		NaN																	0					0						c.(442-444)GAC>GGC		TBC1 domain family, member 3B							34.0	29.0	31.0					17																	34499268		1438	2985	4423	SO:0001583	missense	414059					intracellular	Rab GTPase activator activity	g.chr17:34499268T>C	AF540953	CCDS42300.1	17q12	2014-09-16				ENSG00000274226			27011	protein-coding gene	gene with protein product		610144	"""TBC1 domain family, member 3I"""	TBC1D3I		12359748, 16863688	Standard	XM_005257980		Approved	PRC17	uc002hky.2	A6NDS4	OTTHUMG00000188417	ENST00000454519.3:c.443A>G	17.37:g.34499268T>C	ENSP00000390852:p.Asp148Gly					uc002hla.1_5'Flank|uc002hlc.2_5'Flank	p.D148G	NM_001001417	NP_001001417	Q8IZP1	TBC3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	7	593	-		Breast(25;0.102)|Ovarian(249;0.17)	148			Rab-GAP TBC.		A8K892	Missense_Mutation	SNP	ENST00000454519.3	37	c.443A>G	CCDS42300.1	.	.	.	.	.	.	.	.	.	.	.	12.84	2.058654	0.36277	.	.	ENSG00000224226	ENST00000398801;ENST00000454519;ENST00000340106	T;T	0.49139	0.79;0.79	.	.	.	Rab-GAP/TBC domain (4);	0.059350	0.64402	U	0.000004	T	0.72236	0.3435	H	0.95365	3.66	0.42570	D	0.99317	P	0.51791	0.948	D	0.64506	0.926	T	0.75789	-0.3194	8	0.72032	D	0.01	.	.	.	.	.	148	A6NDS4	TBC3B_HUMAN	G	148	ENSP00000381781:D148G;ENSP00000390852:D148G	ENSP00000340678:D148G	D	-	2	0	TBC1D3B	31523381	1.000000	0.71417	0.010000	0.14722	0.010000	0.07245	4.150000	0.58098	0.093000	0.17368	0.092000	0.15492	GAC		0.547	TBC1D3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256087.3		NM_001001417		24	358	0	0	0	0.01441	0	24	358		
GGNBP2	79893	broad.mit.edu	37	17	34910697	34910697	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:34910697G>A	ENST00000304718.4	+	3	446	c.130G>A	c.(130-132)Gat>Aat	p.D44N		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	44					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GTTAAATCTCGATGGACATCA	0.348																																						uc002hnb.2		NaN																	0				ovary(2)	2						c.(130-132)GAT>AAT		zinc finger protein 403							207.0	206.0	207.0					17																	34910697		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34910697G>A	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.130G>A	17.37:g.34910697G>A	ENSP00000307617:p.Asp44Asn					GGNBP2_uc002hna.2_Missense_Mutation_p.D44N	p.D44N	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	3	379	+		Breast(25;0.00957)|Ovarian(249;0.17)	44					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.130G>A	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364990	0.82463	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.62	5.62	0.85841	.	0.049343	0.85682	D	0.000000	T	0.51805	0.1696	L	0.53249	1.67	0.80722	D	1	P;B	0.39352	0.669;0.109	B;B	0.24974	0.057;0.009	T	0.59215	-0.7496	9	0.59425	D	0.04	-19.9771	20.0844	0.97795	0.0:0.0:1.0:0.0	.	44;44	Q9H3C7;Q9H3C7-3	GGNB2_HUMAN;.	N	44	.	ENSP00000307617:D44N	D	+	1	0	GGNBP2	31984810	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.009000	0.93606	2.821000	0.97095	0.650000	0.86243	GAT		0.348	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2		NM_024835		69	94	0	0	0	0.01441	0	69	94		
PIP4K2B	8396	broad.mit.edu	37	17	36955630	36955630	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:36955630G>C	ENST00000269554.3	-	1	528	c.48C>G	c.(46-48)ctC>ctG	p.L16L	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	16					cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TGCTGGCGCTGAGCGGCGCCA	0.682																																						uc002hqs.2		NaN																	0				ovary(1)	1						c.(46-48)CTC>CTG		phosphatidylinositol-5-phosphate 4-kinase, type							42.0	41.0	42.0					17																	36955630		2202	4300	6502	SO:0001819	synonymous_variant	8396				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity	g.chr17:36955630G>C	U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.48C>G	17.37:g.36955630G>C						PIP4K2B_uc010wdt.1_Silent_p.L16L	p.L16L	NM_003559	NP_003550	P78356	PI42B_HUMAN			1	529	-			16					Q5U0E8|Q8TBP2	Silent	SNP	ENST00000269554.3	37	c.48C>G	CCDS11329.1																																																																																				0.682	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256791.1		NM_003559		14	20	0	0	0	0.004007	0	14	20		
MED1	5469	broad.mit.edu	37	17	37564544	37564544	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:37564544C>T	ENST00000300651.6	-	17	4153	c.3930G>A	c.(3928-3930)ctG>ctA	p.L1310L	CTB-131K11.1_ENST00000582842.1_RNA|MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CCCCATGCTTCAGTTTATCTA	0.522										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3		NaN																	0				lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(3928-3930)CTG>CTA		mediator complex subunit 1							76.0	83.0	80.0					17																	37564544		2203	4300	6503	SO:0001819	synonymous_variant	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564544C>T	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3930G>A	17.37:g.37564544C>T		HNSCC(31;0.082)				MED1_uc010wee.1_Silent_p.L1138L|MED1_uc002hru.2_Intron	p.L1310L	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4142	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1310			Ser-rich.|Interaction with TP53.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000300651.6	37	c.3930G>A	CCDS11336.1																																																																																				0.522	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3		NM_004774		44	61	0	0	0	0.01441	0	44	61		
ERBB2	2064	broad.mit.edu	37	17	37879820	37879820	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:37879820G>A	ENST00000269571.5	+	18	2274	c.2115G>A	c.(2113-2115)gcG>gcA	p.A705A	ERBB2_ENST00000406381.2_Silent_p.A675A|ERBB2_ENST00000445658.2_Silent_p.A429A|ERBB2_ENST00000584601.1_Silent_p.A675A|ERBB2_ENST00000541774.1_Silent_p.A690A|ERBB2_ENST00000540147.1_Silent_p.A675A|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584450.1_Silent_p.A705A			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	705					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CTAGCGGAGCGATGCCCAACC	0.652		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		0				lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(2113-2115)GCG>GCA		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						53.0	53.0	53.0					17																	37879820		2202	4299	6501	SO:0001819	synonymous_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37879820G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2115G>A	17.37:g.37879820G>A		TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Silent_p.A675A|ERBB2_uc010cwa.2_Silent_p.A690A|ERBB2_uc002hsp.2_Silent_p.A508A|ERBB2_uc010cwb.2_Silent_p.A705A|ERBB2_uc010wek.1_Silent_p.A429A	p.A705A	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	18	2353	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	705			Cytoplasmic (Potential).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	c.2115G>A	CCDS32642.1																																																																																				0.652	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2				6	8	0	0	0	0.00308	0	6	8		
RAPGEFL1	51195	broad.mit.edu	37	17	38345517	38345517	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:38345517C>T	ENST00000456989.2	+	6	597	c.551C>T	c.(550-552)tCa>tTa	p.S184L	RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.S129L|RAPGEFL1_ENST00000436615.3_Missense_Mutation_p.S129L|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.S178L|RAPGEFL1_ENST00000540388.1_3'UTR			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	335					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						AGCCGCCTTTCAGCATCTGTG	0.537																																					Esophageal Squamous(28;274 750 6870 14218 42203)	uc010cwu.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(385-387)TCA>TTA		Rap guanine nucleotide exchange factor							189.0	180.0	183.0					17																	38345517		2203	4300	6503	SO:0001583	missense	51195				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	g.chr17:38345517C>T	AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"""Link guanine nucleotide exchange factor II"""		"""RAP guanine-nucleotide-exchange factor (GEF)-like 1"""				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.551C>T	17.37:g.38345517C>T	ENSP00000394530:p.Ser184Leu					RAPGEFL1_uc010wfd.1_Missense_Mutation_p.S65L	p.S129L	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN			6	876	+			335						Missense_Mutation	SNP	ENST00000456989.2	37	c.386C>T		.	.	.	.	.	.	.	.	.	.	C	23.4	4.411577	0.83340	.	.	ENSG00000108352	ENST00000456989;ENST00000543876;ENST00000544503;ENST00000537255;ENST00000264644;ENST00000436615	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.27	5.27	0.74061	Ras guanine nucleotide exchange factor, domain (1);	0.076603	0.53938	D	0.000049	T	0.49898	0.1584	L	0.48642	1.525	0.80722	D	1	B;B	0.31077	0.307;0.168	B;B	0.43508	0.422;0.075	T	0.51228	-0.8732	10	0.62326	D	0.03	.	17.8027	0.88592	0.0:1.0:0.0:0.0	.	65;335	B4DGK9;Q9UHV5	.;RPGFL_HUMAN	L	184;129;178;129;334;129	ENSP00000394530:S184L;ENSP00000440226:S129L;ENSP00000438631:S178L;ENSP00000408322:S129L	ENSP00000264644:S334L	S	+	2	0	RAPGEFL1	35599043	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	6.889000	0.75627	2.731000	0.93534	0.655000	0.94253	TCA		0.537	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1		NM_016339		9	246	0	0	0	0.006214	0	9	246		
KRT20	54474	broad.mit.edu	37	17	39041067	39041067	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:39041067A>G	ENST00000167588.3	-	1	412	c.371T>C	c.(370-372)aTt>aCt	p.I124T		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	124	Coil 1B.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				CAGCTCTTCAATTTGTCTGTA	0.458																																						uc002hvl.2		NaN																	0				large_intestine(1)|kidney(1)|skin(1)	3						c.(370-372)ATT>ACT		keratin 20							91.0	89.0	90.0					17																	39041067		2203	4300	6503	SO:0001583	missense	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39041067A>G	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.371T>C	17.37:g.39041067A>G	ENSP00000167588:p.Ile124Thr						p.I124T	NM_019010	NP_061883	P35900	K1C20_HUMAN			1	413	-		Breast(137;0.000301)|Ovarian(249;0.15)	124			Coil 1B.|Rod.		B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	37	c.371T>C	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	A	19.59	3.856890	0.71834	.	.	ENSG00000171431	ENST00000167588	D	0.91521	-2.86	5.5	5.5	0.81552	Filament (1);	0.204006	0.33309	N	0.005060	D	0.96043	0.8711	M	0.91354	3.2	0.54753	D	0.999984	D	0.63880	0.993	D	0.68039	0.955	D	0.96859	0.9631	10	0.72032	D	0.01	.	15.6055	0.76668	1.0:0.0:0.0:0.0	.	124	P35900	K1C20_HUMAN	T	124	ENSP00000167588:I124T	ENSP00000167588:I124T	I	-	2	0	KRT20	36294593	1.000000	0.71417	0.075000	0.20258	0.009000	0.06853	8.775000	0.91772	2.077000	0.62373	0.533000	0.62120	ATT		0.458	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2				38	58	0	0	0	0.01441	0	38	58		
STAT5B	6777	broad.mit.edu	37	17	40370258	40370258	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:40370258C>T	ENST00000293328.3	-	9	1248	c.1080G>A	c.(1078-1080)ctG>ctA	p.L360L		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	360					2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGTGCACGTTCAGCTTCCCGC	0.577																																						uc002hzh.2		NaN																	0				ovary(3)|lung(2)|skin(1)	6						c.(1078-1080)CTG>CTA		signal transducer and activator of transcription	Dasatinib(DB01254)						116.0	94.0	101.0					17																	40370258		2203	4300	6503	SO:0001819	synonymous_variant	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40370258C>T	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1080G>A	17.37:g.40370258C>T						STAT5B_uc002hzi.3_Silent_p.L360L	p.L360L	NM_012448	NP_036580	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	9	1249	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	360					Q8WWS8	Silent	SNP	ENST00000293328.3	37	c.1080G>A	CCDS11423.1																																																																																				0.577	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1		NM_012448		5	105	0	0	0	0.000602	0	5	105		
NBR1	4077	broad.mit.edu	37	17	41345231	41345231	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:41345231G>A	ENST00000422280.1	+	11	1653	c.1194G>A	c.(1192-1194)atG>atA	p.M398I	NBR1_ENST00000590996.1_Missense_Mutation_p.M398I|NBR1_ENST00000542611.1_Missense_Mutation_p.M377I|NBR1_ENST00000589872.1_Missense_Mutation_p.M398I|NBR1_ENST00000341165.6_Missense_Mutation_p.M398I|NBR1_ENST00000389312.4_Missense_Mutation_p.M398I	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	398					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		ACTGGAGGATGAAAAATACAG	0.443																																						uc010czd.2		NaN																	0				skin(1)	1						c.(1192-1194)ATG>ATA		neighbor of BRCA1 gene 1							74.0	68.0	70.0					17																	41345231		1920	4119	6039	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41345231G>A	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.1194G>A	17.37:g.41345231G>A	ENSP00000411250:p.Met398Ile					NBR1_uc010diz.2_Missense_Mutation_p.M398I|NBR1_uc010whu.1_Missense_Mutation_p.M398I|NBR1_uc010whv.1_Missense_Mutation_p.M398I|NBR1_uc010whw.1_Missense_Mutation_p.M377I|NBR1_uc010whx.1_Missense_Mutation_p.M207I	p.M398I	NM_031862	NP_114068	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	11	1334	+		Breast(137;0.00086)	398					Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.1194G>A	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883304	0.91740	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.51817	1.28;0.69;1.28;1.27	5.65	5.65	0.86999	.	0.038984	0.85682	D	0.000000	T	0.48804	0.1520	L	0.45352	1.415	0.80722	D	1	B;B;P;B	0.36110	0.264;0.264;0.537;0.264	B;B;B;B	0.40165	0.119;0.119;0.321;0.119	T	0.41998	-0.9477	10	0.46703	T	0.11	-17.99	19.9142	0.97043	0.0:0.0:1.0:0.0	.	398;377;398;398	A8K1U0;B7Z5R6;Q14596-2;Q14596	.;.;.;NBR1_HUMAN	I	398;377;398;398;398	ENSP00000411250:M398I;ENSP00000437545:M377I;ENSP00000343479:M398I;ENSP00000373963:M398I	ENSP00000343479:M398I	M	+	3	0	NBR1	38598757	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.263000	0.95617	2.941000	0.99782	0.655000	0.94253	ATG		0.443	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1		NM_005899		9	21	0	0	0	0.006214	0	9	21		
ETV4	2118	broad.mit.edu	37	17	41606896	41606896	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:41606896C>T	ENST00000319349.5	-	11	1402	c.1104G>A	c.(1102-1104)gaG>gaA	p.E368E	ETV4_ENST00000586826.1_Silent_p.E91E|ETV4_ENST00000591713.1_Silent_p.E368E|ETV4_ENST00000545089.1_Silent_p.E314E|ETV4_ENST00000538265.1_Silent_p.E329E|ETV4_ENST00000393664.2_Silent_p.E368E|ETV4_ENST00000545954.1_Silent_p.E329E	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	368					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		TGAGCTTGAACTCCATTCCCC	0.587			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	uc002idw.2		NaN		Dom	yes		17	17q21	2118	T	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""			"""M, E"""	EWSR1|TMPRSS2|DDX5|KLK2|CANT1		Ewing sarcoma|Prostate carcinoma	EWSR1/ETV4(6)	0				bone(4)|soft_tissue(2)|ovary(1)	7						c.(1102-1104)GAG>GAA		ets variant gene 4 (E1A enhancer binding							52.0	46.0	48.0					17																	41606896		2203	4300	6503	SO:0001819	synonymous_variant	2118				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:41606896C>T	U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.1104G>A	17.37:g.41606896C>T						ETV4_uc002idv.2_Silent_p.E91E|ETV4_uc010wih.1_Silent_p.E314E|ETV4_uc010czh.2_Silent_p.E367E|ETV4_uc010wii.1_Silent_p.E329E|ETV4_uc002idx.2_Silent_p.E368E|ETV4_uc010wij.1_Silent_p.E329E	p.E368E	NM_001986	NP_001977	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	11	1232	-		Breast(137;0.00908)	368			ETS.		A8K314|B7Z5J3|B7Z9J6|Q96AW9	Silent	SNP	ENST00000319349.5	37	c.1104G>A	CCDS11465.1																																																																																				0.587	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1		NM_001986		28	38	0	0	0	0.008361	0	28	38		
CRHR1	1394	broad.mit.edu	37	17	43912040	43912040	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:43912040G>A	ENST00000398285.3	+	14	1245	c.1245G>A	c.(1243-1245)tcG>tcA	p.S415S	CRHR1_ENST00000577353.1_Silent_p.S372S|CRHR1_ENST00000339069.5_Missense_Mutation_p.R240Q|CRHR1_ENST00000293493.7_Silent_p.S211S|CRHR1_ENST00000314537.5_Silent_p.S386S|CRHR1_ENST00000352855.5_Silent_p.S346S	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	415					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		ACAAGCACTCGATCCGTGCCC	0.637																																					Ovarian(110;57 1568 10207 38216 49865)	uc010dap.2		NaN																	0				lung(3)	3						c.(1243-1245)TCG>TCA		corticotropin releasing hormone receptor 1																																				SO:0001819	synonymous_variant	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43912040G>A	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.1245G>A	17.37:g.43912040G>A						CRHR1_uc010wjx.1_Silent_p.S211S|CRHR1_uc002ijp.2_Missense_Mutation_p.R240Q|CRHR1_uc002ijm.2_Silent_p.S386S|CRHR1_uc002ijn.2_Silent_p.S346S|CRHR1_uc010dar.2_Silent_p.S372S|CRHR1_uc010dao.2_Silent_p.S285S|CRHR1_uc010daq.2_Silent_p.S211S	p.S415S	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	14	1510	+	Colorectal(2;0.0416)		415			Cytoplasmic (Potential).		B4DIE9|Q13008|Q4QRJ1|Q9UK64	Silent	SNP	ENST00000398285.3	37	c.1245G>A	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554206	0.45487	.	.	ENSG00000120088	ENST00000339069	T	0.49139	0.79	5.24	-9.89	0.00464	.	.	.	.	.	T	0.31389	0.0795	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21690	-1.0238	8	0.87932	D	0	.	10.0981	0.42488	0.3089:0.4925:0.1986:0.0	.	240	B4DMR5	.	Q	240	ENSP00000340522:R240Q	ENSP00000340522:R240Q	R	+	2	0	CRHR1	41267821	0.002000	0.14202	0.909000	0.35828	0.941000	0.58515	-1.142000	0.03203	-1.083000	0.03097	-0.263000	0.10527	CGA		0.637	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3				55	58	0	0	0	0.01441	0	55	58		
FAM117A	81558	broad.mit.edu	37	17	47797711	47797711	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:47797711G>C	ENST00000240364.2	-	4	629	c.550C>G	c.(550-552)Cac>Gac	p.H184D	RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	184										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CGCACTGCGTGGTCCCCTAGG	0.587																																						uc002ipk.2		NaN																	0				ovary(1)	1						c.(550-552)CAC>GAC		family with sequence similarity 117, member A							95.0	84.0	88.0					17																	47797711		2203	4300	6503	SO:0001583	missense	81558							g.chr17:47797711G>C	BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"""C/EBP induced protein"""					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.550C>G	17.37:g.47797711G>C	ENSP00000240364:p.His184Asp					FAM117A_uc010wlz.1_5'UTR	p.H184D	NM_030802	NP_110429	Q9C073	F117A_HUMAN			4	619	-			184					B7Z7Q3	Missense_Mutation	SNP	ENST00000240364.2	37	c.550C>G	CCDS11553.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177033	0.57692	.	.	ENSG00000121104	ENST00000240364;ENST00000511743;ENST00000506156	.	.	.	5.16	5.16	0.70880	.	0.204822	0.40385	N	0.001117	T	0.67040	0.2851	M	0.62723	1.935	0.80722	D	1	P	0.39216	0.664	P	0.44359	0.447	T	0.69811	-0.5044	9	0.56958	D	0.05	-16.0052	16.5976	0.84800	0.0:0.0:1.0:0.0	.	184	Q9C073	F117A_HUMAN	D	184;74;152	.	ENSP00000240364:H184D	H	-	1	0	FAM117A	45152710	1.000000	0.71417	0.992000	0.48379	0.449000	0.32228	6.267000	0.72546	2.679000	0.91253	0.643000	0.83706	CAC		0.587	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1		NM_030802		50	99	0	0	0	0.01441	0	50	99		
ITGA3	3675	broad.mit.edu	37	17	48133990	48133990	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:48133990G>A	ENST00000320031.8	+	1	517	c.187G>A	c.(187-189)Gag>Aag	p.E63K	RP11-1094H24.4_ENST00000499842.1_lincRNA|ITGA3_ENST00000544892.1_5'UTR|ITGA3_ENST00000007722.7_Missense_Mutation_p.E63K	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	63					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TCGGCAGACAGAGCGGCAGCA	0.662																																						uc010dbl.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(187-189)GAG>AAG		integrin alpha 3 isoform a precursor							8.0	9.0	8.0					17																	48133990		2180	4266	6446	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48133990G>A	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.187G>A	17.37:g.48133990G>A	ENSP00000315190:p.Glu63Lys					ITGA3_uc010dbm.2_Missense_Mutation_p.E63K	p.E63K	NM_002204	NP_002195	P26006	ITA3_HUMAN			1	651	+			63			FG-GAP 1.|Extracellular (Potential).		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.187G>A	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089388	0.55968	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.71698	-0.59;-0.59	5.57	4.59	0.56863	.	0.195714	0.42821	D	0.000656	T	0.65739	0.2720	L	0.61387	1.9	0.80722	D	1	P;P	0.46142	0.873;0.704	B;B	0.44044	0.439;0.215	T	0.62320	-0.6879	10	0.12430	T	0.62	.	9.5187	0.39122	0.0783:0.1462:0.7756:0.0	.	63;63	P26006-1;P26006	.;ITA3_HUMAN	K	63;49;63	ENSP00000007722:E63K;ENSP00000315190:E63K	ENSP00000007722:E63K	E	+	1	0	ITGA3	45488989	0.966000	0.33281	0.893000	0.35052	0.933000	0.57130	1.641000	0.37197	1.328000	0.45358	0.561000	0.74099	GAG		0.662	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1		NM_005501		12	17	0	0	0	0.00499	0	12	17		
ABCC3	8714	broad.mit.edu	37	17	48750918	48750918	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:48750918G>A	ENST00000285238.8	+	19	2578	c.2498G>A	c.(2497-2499)gGc>gAc	p.G833D		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	833	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TCTGAGATGGGCCCGTACCCA	0.602																																						uc002isl.2		NaN																	0				skin(3)|central_nervous_system(1)	4						c.(2497-2499)GGC>GAC		ATP-binding cassette, sub-family C, member 3	Glibenclamide(DB01016)						125.0	105.0	112.0					17																	48750918		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48750918G>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.2498G>A	17.37:g.48750918G>A	ENSP00000285238:p.Gly833Asp						p.G833D	NM_003786	NP_003777	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		19	2578	+			833			ABC transporter 1.|Cytoplasmic (By similarity).		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.2498G>A	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114359	0.94339	.	.	ENSG00000108846	ENST00000285238	D	0.95272	-3.66	4.83	4.83	0.62350	ABC transporter-like (1);	0.129548	0.52532	D	0.000071	D	0.97698	0.9245	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98427	1.0580	10	0.87932	D	0	-26.5914	18.8069	0.92041	0.0:0.0:1.0:0.0	.	833	O15438	MRP3_HUMAN	D	833	ENSP00000285238:G833D	ENSP00000285238:G833D	G	+	2	0	ABCC3	46105917	1.000000	0.71417	0.545000	0.28153	0.978000	0.69477	9.727000	0.98787	2.616000	0.88540	0.561000	0.74099	GGC		0.602	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2		NM_020038		27	120	0	0	0	0.007291	0	27	120		
ANKRD40	91369	broad.mit.edu	37	17	48784970	48784970	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:48784970C>T	ENST00000285243.6	-	1	315	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	16										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			GCCGCGGCCTCCCGCAGCCTC	0.682																																						uc002iso.2		NaN																	0					0						c.(46-48)GAG>AAG		ankyrin repeat domain 40							77.0	74.0	75.0					17																	48784970		2203	4300	6503	SO:0001583	missense	91369							g.chr17:48784970C>T	BC012978	CCDS11572.1	17q21.33	2013-01-10			ENSG00000154945	ENSG00000154945		"""Ankyrin repeat domain containing"""	28233	protein-coding gene	gene with protein product						12477932	Standard	NM_052855		Approved	MGC15396	uc002iso.3	Q6AI12	OTTHUMG00000162255	ENST00000285243.6:c.46G>A	17.37:g.48784970C>T	ENSP00000285243:p.Glu16Lys						p.E16K	NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.03e-09)		1	301	-			16			ANK 1.		Q96E32	Missense_Mutation	SNP	ENST00000285243.6	37	c.46G>A	CCDS11572.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071205	0.76301	.	.	ENSG00000154945	ENST00000285243	T	0.63580	-0.05	4.28	3.3	0.37823	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.53417	0.1795	L	0.45744	1.44	0.54753	D	0.999986	B	0.24618	0.107	B	0.26094	0.066	T	0.48399	-0.9039	10	0.29301	T	0.29	-11.0872	12.0308	0.53396	0.0:0.9133:0.0:0.0867	.	16	Q6AI12	ANR40_HUMAN	K	16	ENSP00000285243:E16K	ENSP00000285243:E16K	E	-	1	0	ANKRD40	46139969	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.323000	0.72891	0.927000	0.37143	0.549000	0.68633	GAG		0.682	ANKRD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368201.2		NM_052855		65	114	0	0	0	0.01441	0	65	114		
GDPD1	284161	broad.mit.edu	37	17	57335175	57335175	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:57335175G>C	ENST00000284116.4	+	6	687	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q	GDPD1_ENST00000581140.1_Missense_Mutation_p.E184Q|Y_RNA_ENST00000384506.1_RNA|GDPD1_ENST00000581276.1_Missense_Mutation_p.E184Q	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	184	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TGCCAATTATGAAATTGTAGA	0.323																																						uc002ixk.1		NaN																	0					0						c.(550-552)GAA>CAA		glycerophosphodiester phosphodiesterase domain							83.0	87.0	86.0					17																	57335175		2203	4300	6503	SO:0001583	missense	284161				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr17:57335175G>C	AK094770	CCDS11616.1, CCDS58583.1, CCDS58584.1	17q23.2	2011-01-25				ENSG00000153982			20883	protein-coding gene	gene with protein product						14612981	Standard	NM_182569		Approved	FLJ37451, GDE4	uc002ixk.2	Q8N9F7		ENST00000284116.4:c.550G>C	17.37:g.57335175G>C	ENSP00000284116:p.Glu184Gln					GDPD1_uc002ixj.2_Missense_Mutation_p.E184Q	p.E184Q	NM_182569	NP_872375	Q8N9F7	GDPD1_HUMAN			6	687	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		184			Cytoplasmic (Potential).|GDPD.		A8W735|Q56VR1|Q8N4E3	Missense_Mutation	SNP	ENST00000284116.4	37	c.550G>C	CCDS11616.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719603	0.30503	.	.	ENSG00000153982	ENST00000284116	T	0.12361	2.69	5.82	4.73	0.59995	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.196850	0.53938	D	0.000055	T	0.10937	0.0267	L	0.35414	1.06	0.44956	D	0.997971	B;B	0.18741	0.03;0.024	B;B	0.17979	0.018;0.02	T	0.12451	-1.0547	10	0.21014	T	0.42	.	11.6876	0.51497	0.1039:0.0:0.8961:0.0	.	184;184	Q8N9F7;Q8N9F7-2	GDPD1_HUMAN;.	Q	184	ENSP00000284116:E184Q	ENSP00000284116:E184Q	E	+	1	0	GDPD1	54689957	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.796000	0.38794	1.213000	0.43380	0.561000	0.74099	GAA		0.323	GDPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446024.1		NM_182569		40	54	0	0	0	0.01441	0	40	54		
INTS2	57508	broad.mit.edu	37	17	59981823	59981823	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:59981823G>A	ENST00000444766.3	-	9	1404	c.1329C>T	c.(1327-1329)gtC>gtT	p.V443V	INTS2_ENST00000251334.6_Silent_p.V435V	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	443					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TTAGGTACCTGACAAGTGTAG	0.388																																						uc002izn.2		NaN																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(1327-1329)GTC>GTT		integrator complex subunit 2							63.0	62.0	62.0					17																	59981823		1891	4095	5986	SO:0001819	synonymous_variant	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59981823G>A	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.1329C>T	17.37:g.59981823G>A						INTS2_uc002izm.2_Silent_p.V435V	p.V443V	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN			9	1405	-			443			Helical; (Potential).		Q9ULD3	Silent	SNP	ENST00000444766.3	37	c.1329C>T	CCDS45750.1																																																																																				0.388	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1		NM_020748		3	5	0	0	0	0.000602	0	3	5		
WIPI1	55062	broad.mit.edu	37	17	66430741	66430741	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:66430741G>A	ENST00000262139.5	-	7	647	c.648C>T	c.(646-648)gtC>gtT	p.V216V	WIPI1_ENST00000546360.1_Silent_p.V134V|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	216					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GCCCATCAGGGACAGAGAACA	0.488																																						uc010dey.2		NaN																	0					0						c.(646-648)GTC>GTT		WD repeat domain, phosphoinositide interacting							88.0	86.0	86.0					17																	66430741		2203	4300	6503	SO:0001819	synonymous_variant	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66430741G>A		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.648C>T	17.37:g.66430741G>A						WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_Silent_p.V134V|WIPI1_uc002jhe.3_RNA	p.V216V	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN			7	739	-			216			WD 1.		Q8IXM5|Q9NWF8	Silent	SNP	ENST00000262139.5	37	c.648C>T	CCDS11677.1																																																																																				0.488	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1		NM_017983		24	36	0	0	0	0.009535	0	24	36		
ABCA5	23461	broad.mit.edu	37	17	67255906	67255906	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:67255906G>C	ENST00000392676.3	-	28	3736	c.3672C>G	c.(3670-3672)ctC>ctG	p.L1224L	ABCA5_ENST00000392677.2_Silent_p.L1225L|ABCA5_ENST00000588877.1_Silent_p.L1224L			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1224					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	AGTATTGTAAGAGGAAAATCC	0.308																																						uc002jif.2		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(3670-3672)CTC>CTG		ATP-binding cassette, sub-family A , member 5							59.0	58.0	58.0					17																	67255906		2203	4300	6503	SO:0001819	synonymous_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67255906G>C	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3672C>G	17.37:g.67255906G>C						ABCA5_uc002jib.2_Silent_p.L190L|ABCA5_uc002jic.2_Silent_p.L447L|ABCA5_uc002jid.2_Silent_p.L141L|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Silent_p.L1224L	p.L1224L	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN			27	4890	-	Breast(10;3.72e-11)		1224			Helical; (Potential).		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Silent	SNP	ENST00000392676.3	37	c.3672C>G	CCDS11685.1																																																																																				0.308	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1		NM_018672		21	39	0	0	0	0.00632	0	21	39		
COG1	9382	broad.mit.edu	37	17	71197795	71197795	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:71197795C>T	ENST00000299886.4	+	7	1909	c.1829C>T	c.(1828-1830)tCa>tTa	p.S610L		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	610					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			AAGCTGCACTCAGTTCTTTTC	0.552																																						uc002jjg.2		NaN																	0				ovary(1)	1						c.(1828-1830)TCA>TTA		component of oligomeric golgi complex 1							79.0	68.0	72.0					17																	71197795		2203	4300	6503	SO:0001583	missense	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71197795C>T		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.1829C>T	17.37:g.71197795C>T	ENSP00000299886:p.Ser610Leu					COG1_uc002jjh.2_Missense_Mutation_p.S610L|COG1_uc002jjf.1_Missense_Mutation_p.S610L	p.S610L	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		7	1865	+			610					Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.1829C>T	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869419	0.32977	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.24723	1.84;1.84	5.29	5.29	0.74685	.	0.323893	0.33180	N	0.005191	T	0.23611	0.0571	L	0.39898	1.24	0.21290	N	0.99974	B;B;B	0.29188	0.054;0.236;0.054	B;B;B	0.24006	0.05;0.05;0.05	T	0.09400	-1.0676	10	0.25751	T	0.34	-3.8234	18.9681	0.92704	0.0:1.0:0.0:0.0	.	610;610;610	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	L	610	ENSP00000400111:S610L;ENSP00000299886:S610L	ENSP00000299886:S610L	S	+	2	0	COG1	68709390	0.001000	0.12720	0.163000	0.22734	0.709000	0.40893	1.390000	0.34464	2.489000	0.83994	0.655000	0.94253	TCA		0.552	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1				20	27	0	0	0	0.010504	0	20	27		
ITGB4	3691	broad.mit.edu	37	17	73749862	73749862	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:73749862C>G	ENST00000200181.3	+	33	4312	c.4125C>G	c.(4123-4125)ttC>ttG	p.F1375L	GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Intron|ITGB4_ENST00000450894.3_Intron|ITGB4_ENST00000449880.2_Intron|ITGB4_ENST00000339591.3_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1375					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGGAAGTTCGAGCCCCTGC	0.761																																						uc002jpg.2		NaN																	0				lung(4)	4						c.(4123-4125)TTC>TTG		integrin beta 4 isoform 1 precursor							8.0	11.0	10.0					17																	73749862		2176	4251	6427	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73749862C>G		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4125C>G	17.37:g.73749862C>G	ENSP00000200181:p.Phe1375Leu					ITGB4_uc002jph.2_Intron|ITGB4_uc002jpi.3_Intron|ITGB4_uc002jpj.2_Intron|GALK1_uc010wsi.1_Intron	p.F1375L	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		33	4312	+	all_cancers(13;1.5e-07)		1375			Cytoplasmic (Potential).		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.4125C>G	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980393	0.53827	.	.	ENSG00000132470	ENST00000200181	T	0.74315	-0.83	3.84	1.7	0.24286	.	0.513144	0.19986	U	0.101677	T	0.51058	0.1652	L	0.27053	0.805	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.28522	-1.0041	10	0.07030	T	0.85	.	4.0728	0.09891	0.0:0.3512:0.4374:0.2114	.	1375	P16144	ITB4_HUMAN	L	1375	ENSP00000200181:F1375L	ENSP00000200181:F1375L	F	+	3	2	ITGB4	71261457	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.492000	0.35594	0.250000	0.21479	0.455000	0.32223	TTC		0.761	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1				14	15	0	0	0	0.012319	0	14	15		
GALK1	2584	broad.mit.edu	37	17	73759154	73759154	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:73759154G>A	ENST00000588479.1	-	4	1126	c.552C>T	c.(550-552)atC>atT	p.I184I	GALK1_ENST00000225614.2_Silent_p.I184I|GALK1_ENST00000437911.1_Silent_p.I214I			P51570	GALK1_HUMAN	galactokinase 1	184	Substrate binding.		I -> M. {ECO:0000269|PubMed:12942049}.		carbohydrate metabolic process (GO:0005975)|galactitol metabolic process (GO:0019402)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|galactose binding (GO:0005534)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACTGGTCCATGATGCCACAGG	0.632																																						uc010wsi.1		NaN																	0					0						c.(550-552)ATC>ATT		galactokinase 1							67.0	58.0	61.0					17																	73759154		2203	4300	6503	SO:0001819	synonymous_variant	2584				galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding	g.chr17:73759154G>A		CCDS11728.1	17q25.1	2013-09-19			ENSG00000108479	ENSG00000108479	2.7.1.6		4118	protein-coding gene	gene with protein product		604313		GALK		7670469	Standard	NM_000154		Approved		uc002jpk.3	P51570	OTTHUMG00000179832	ENST00000588479.1:c.552C>T	17.37:g.73759154G>A						GALK1_uc002jpk.2_Silent_p.I184I|GALK1_uc010wsj.1_3'UTR	p.I184I	NM_000154	NP_000145	P51570	GALK1_HUMAN	all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		4	615	-	all_cancers(13;1.5e-07)		184		I -> M.			B2RC07|B4E1G6	Silent	SNP	ENST00000588479.1	37	c.552C>T	CCDS11728.1																																																																																				0.632	GALK1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448430.1				42	64	0	0	0	0.01441	0	42	64		
CEP131	22994	broad.mit.edu	37	17	79170817	79170817	+	Silent	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:79170817C>A	ENST00000269392.4	-	14	1942	c.1695G>T	c.(1693-1695)ctG>ctT	p.L565L	AZI1_ENST00000570482.2_5'Flank|AZI1_ENST00000575907.1_Silent_p.L565L|AZI1_ENST00000450824.2_Silent_p.L562L|RP11-455O6.2_ENST00000571085.1_RNA|AZI1_ENST00000374782.3_Silent_p.L562L	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		565					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCTCGGACCCCAGCTCCAGGG	0.692																																						uc002jzp.1		NaN																	0				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(1693-1695)CTG>CTT		5-azacytidine induced 1 isoform a							39.0	32.0	34.0					17																	79170817		2179	4288	6467	SO:0001819	synonymous_variant	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79170817C>A																												ENST00000269392.4:c.1695G>T	17.37:g.79170817C>A						AZI1_uc002jzm.1_5'UTR|AZI1_uc002jzn.1_Silent_p.L562L|AZI1_uc002jzo.1_Silent_p.L562L|AZI1_uc010wum.1_Silent_p.L565L|AZI1_uc002jzq.2_5'Flank	p.L565L	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		14	1895	-	all_neural(118;0.0804)|Melanoma(429;0.242)		565					A6NHI8|B2RN11|Q96F50	Silent	SNP	ENST00000269392.4	37	c.1695G>T																																																																																					0.692	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1				7	6	1	0	3.09899e-07	0.004482	3.20966e-07	7	6		
LRRC45	201255	broad.mit.edu	37	17	79988565	79988565	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:79988565G>A	ENST00000306688.3	+	17	2239	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	RAC3_ENST00000306897.4_5'Flank	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	633						centrosome (GO:0005813)				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCGGCTCCGGGAGGCGGAGAT	0.697																																						uc002kde.2		NaN																	0				pancreas(1)	1						c.(1897-1899)GAG>AAG		leucine rich repeat containing 45							8.0	11.0	10.0					17																	79988565		2127	4213	6340	SO:0001583	missense	201255					centrosome		g.chr17:79988565G>A	BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683			28302	protein-coding gene	gene with protein product						12477932	Standard	NM_144999		Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.1897G>A	17.37:g.79988565G>A	ENSP00000306760:p.Glu633Lys					RAC3_uc002kdf.2_5'Flank	p.E633K	NM_144999	NP_659436	Q96CN5	LRC45_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		17	2137	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		633			Potential.			Missense_Mutation	SNP	ENST00000306688.3	37	c.1897G>A	CCDS11797.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214668	0.58452	.	.	ENSG00000169683	ENST00000306688	T	0.42513	0.97	4.5	2.33	0.28932	.	0.145084	0.44285	D	0.000461	T	0.22781	0.0550	N	0.19112	0.55	0.21527	N	0.999654	P	0.46395	0.877	B	0.38106	0.265	T	0.10086	-1.0645	9	.	.	.	-11.7648	8.8459	0.35170	0.088:0.2852:0.6268:0.0	.	633	Q96CN5	LRC45_HUMAN	K	633	ENSP00000306760:E633K	.	E	+	1	0	LRRC45	77581854	1.000000	0.71417	0.360000	0.25837	0.992000	0.81027	4.776000	0.62354	1.104000	0.41587	0.491000	0.48974	GAG		0.697	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442058.1		NM_144999		7	3	0	0	0	0.00308	0	7	3		
FOXK2	3607	broad.mit.edu	37	17	80478010	80478010	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:80478010C>T	ENST00000335255.5	+	1	420	c.246C>T	c.(244-246)atC>atT	p.I82I		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	82	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.|Gly-rich.			AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200). {ECO:0000305}.	positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			ACCTCGAGATCTTCAcgcccc	0.731																																						uc002kfn.2		NaN																	0					0						c.(244-246)ATC>ATT		forkhead box K2							14.0	18.0	17.0					17																	80478010		2179	4259	6438	SO:0001819	synonymous_variant	3607				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|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	g.chr17:80478010C>T	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.246C>T	17.37:g.80478010C>T						FOXK2_uc002kfm.1_Silent_p.I82I|FOXK2_uc010diu.2_Silent_p.I82I	p.I82I	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		1	417	+	Breast(20;0.00106)|all_neural(118;0.0952)		82	AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200).		FHA.|Gly-rich.		A6NEP5|Q13622|Q13623|Q13624	Silent	SNP	ENST00000335255.5	37	c.246C>T	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	.	10.21	1.287511	0.23478	.	.	ENSG00000141568	ENST00000535184	.	.	.	3.62	1.6	0.23607	.	.	.	.	.	T	0.35537	0.0935	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.04579	-1.0941	5	0.10111	T	0.7	.	6.6985	0.23213	0.0:0.6827:0.1451:0.1722	.	.	.	.	F	79	.	ENSP00000443080:L79F	L	+	1	0	FOXK2	78071299	1.000000	0.71417	0.833000	0.33012	0.528000	0.34623	1.763000	0.38461	0.256000	0.21614	0.536000	0.68110	CTT		0.731	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2		NM_181430		27	20	0	0	0	0.012213	0	27	20		
ST8SIA5	29906	broad.mit.edu	37	18	44260398	44260398	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr18:44260398C>T	ENST00000315087.7	-	7	1398	c.738G>A	c.(736-738)ctG>ctA	p.L246L	ST8SIA5_ENST00000538168.1_Silent_p.L282L|ST8SIA5_ENST00000536490.1_Silent_p.L215L|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	246					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						AGAAGGCAGGCAGCAGCACCG	0.607																																						uc002lcj.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						c.(736-738)CTG>CTA		ST8 alpha-N-acetyl-neuraminide							87.0	49.0	62.0					18																	44260398		2203	4300	6503	SO:0001819	synonymous_variant	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44260398C>T	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.738G>A	18.37:g.44260398C>T						ST8SIA5_uc002lci.1_Silent_p.L93L|ST8SIA5_uc010xcy.1_Silent_p.L282L|ST8SIA5_uc010xcz.1_Silent_p.L215L	p.L246L	NM_013305	NP_037437	O15466	SIA8E_HUMAN			7	1306	-			246			Lumenal (Potential).		B7Z1K9|Q6IAW7	Silent	SNP	ENST00000315087.7	37	c.738G>A	CCDS11930.1																																																																																				0.607	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1		NM_013305		7	15	0	0	0	0.00308	0	7	15		
ZBTB7C	201501	broad.mit.edu	37	18	45556270	45556270	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr18:45556270C>T	ENST00000588982.1	-	4	1722	c.1221G>A	c.(1219-1221)ctG>ctA	p.L407L	ZBTB7C_ENST00000535628.2_Silent_p.L407L|ZBTB7C_ENST00000590800.1_Silent_p.L407L|ZBTB7C_ENST00000586438.1_Silent_p.L407L|ZBTB7C_ENST00000332053.2_Silent_p.L407L			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	407							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TGTGGATTTTCAGCTTGTCCT	0.577																																						uc002lda.2		NaN																	0				ovary(1)	1						c.(1219-1221)CTG>CTA		zinc finger and BTB domain containing 7C							99.0	81.0	87.0					18																	45556270		2203	4300	6503	SO:0001819	synonymous_variant	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45556270C>T	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.1221G>A	18.37:g.45556270C>T						ZBTB7C_uc002ldb.2_Silent_p.L407L|ZBTB7C_uc010dnu.2_Silent_p.L416L|ZBTB7C_uc010dnv.2_Silent_p.L429L|ZBTB7C_uc010dnw.2_Silent_p.L407L	p.L407L	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN			2	1237	-			407			C2H2-type 2.		O73453	Silent	SNP	ENST00000588982.1	37	c.1221G>A	CCDS32830.1																																																																																				0.577	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1		NM_001039360		14	40	0	0	0	0.00245	0	14	40		
KIAA1468	57614	broad.mit.edu	37	18	59954630	59954630	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr18:59954630G>A	ENST00000398130.2	+	26	3532	c.3300G>A	c.(3298-3300)caG>caA	p.Q1100Q	KIAA1468_ENST00000256858.6_Silent_p.Q1134Q	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1100										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				ACAACTTACAGATTGTGGATT	0.348																																						uc002lil.2		NaN																	0				ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6						c.(3298-3300)CAG>CAA		hypothetical protein LOC57614							176.0	162.0	167.0					18																	59954630		2203	4300	6503	SO:0001819	synonymous_variant	57614						binding	g.chr18:59954630G>A	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.3300G>A	18.37:g.59954630G>A						KIAA1468_uc010xel.1_Silent_p.Q1100Q|KIAA1468_uc002lim.2_Silent_p.Q778Q	p.Q1100Q	NM_020854	NP_065905	Q9P260	K1468_HUMAN			26	3515	+		Colorectal(73;0.186)	1100						Silent	SNP	ENST00000398130.2	37	c.3300G>A	CCDS11979.2																																																																																				0.348	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1		NM_020854		39	24	0	0	0	0.011902	0	39	24		
NETO1	81832	broad.mit.edu	37	18	70417577	70417577	+	Missense_Mutation	SNP	G	G	A	rs574511728		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr18:70417577G>A	ENST00000327305.6	-	9	1918	c.1261C>T	c.(1261-1263)Cgg>Tgg	p.R421W	RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Missense_Mutation_p.R421W|NETO1_ENST00000299430.2_Missense_Mutation_p.R420W	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	421					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.R421R(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GATGACCTCCGCAGTTTATGG	0.458																																						uc002lkw.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1261-1263)CGG>TGG		neuropilin- and tolloid-like protein 1 isoform 3							96.0	87.0	90.0					18																	70417577		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417577G>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1261C>T	18.37:g.70417577G>A	ENSP00000313088:p.Arg421Trp					NETO1_uc002lkx.1_Missense_Mutation_p.R420W|NETO1_uc002lky.1_Missense_Mutation_p.R421W	p.R421W	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	1545	-		Esophageal squamous(42;0.129)	421			Cytoplasmic (Potential).		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.1261C>T	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945444	0.53079	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.46819	0.86;0.86	5.8	2.88	0.33553	.	0.000000	0.53938	D	0.000053	T	0.61788	0.2375	L	0.49350	1.555	0.80722	D	1	D;P	0.89917	1.0;0.476	D;B	0.74674	0.984;0.134	T	0.65957	-0.6042	10	0.87932	D	0	-20.6331	15.136	0.72566	0.0:0.0:0.6138:0.3862	.	420;421	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	W	421;420	ENSP00000313088:R421W;ENSP00000299430:R420W	ENSP00000299430:R420W	R	-	1	2	NETO1	68568557	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.446000	0.44908	0.753000	0.32945	0.455000	0.32223	CGG		0.458	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2		NM_138999		16	9	0	0	0	0.008871	0	16	9		
CELF5	60680	broad.mit.edu	37	19	3275921	3275921	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:3275921C>G	ENST00000292672.2	+	4	499	c.462C>G	c.(460-462)ttC>ttG	p.F154L	CELF5_ENST00000541430.2_Missense_Mutation_p.F154L	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	154	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						TGCGGCTGTTCCAGCCCTTCG	0.697																																						uc002lxm.2		NaN																	0				ovary(2)	2						c.(460-462)TTC>TTG		bruno-like 5, RNA binding protein							27.0	27.0	27.0					19																	3275921		2203	4300	6503	SO:0001583	missense	60680				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:3275921C>G	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"""RNA binding motif (RRM) containing"""	14058	protein-coding gene	gene with protein product		612680	"""Bruno (Drosophila) -like 5, RNA binding protein"", ""bruno-like 5, RNA binding protein (Drosophila)"""	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.462C>G	19.37:g.3275921C>G	ENSP00000292672:p.Phe154Leu					CELF5_uc002lxl.1_Missense_Mutation_p.F154L|CELF5_uc010dtj.1_Missense_Mutation_p.F154L|CELF5_uc010xhg.1_Missense_Mutation_p.F40L|CELF5_uc002lxn.2_RNA	p.F154L	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN			4	499	+			154			RRM 2.		D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Missense_Mutation	SNP	ENST00000292672.2	37	c.462C>G	CCDS12106.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158368	0.78114	.	.	ENSG00000161082	ENST00000292672;ENST00000541430;ENST00000334293	T;T;T	0.43294	0.95;0.95;0.95	3.54	2.46	0.29980	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.050236	0.85682	D	0.000000	T	0.60625	0.2283	M	0.85859	2.78	0.54753	D	0.999989	D;D;P	0.62365	0.991;0.978;0.912	D;P;P	0.66497	0.944;0.779;0.669	T	0.61773	-0.6994	10	0.72032	D	0.01	-11.3105	6.7131	0.23288	0.0:0.7078:0.1858:0.1064	.	40;154;154	B4DFI3;Q8N6W0-2;Q8N6W0	.;.;CELF5_HUMAN	L	154;154;40	ENSP00000292672:F154L;ENSP00000443498:F154L;ENSP00000335182:F40L	ENSP00000292672:F154L	F	+	3	2	CELF5	3226921	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.116000	0.31221	0.796000	0.33947	0.471000	0.43371	TTC		0.697	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1		NM_021938		37	27	0	0	0	0.01441	0	37	27		
ZFR2	23217	broad.mit.edu	37	19	3816707	3816707	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:3816707G>A	ENST00000262961.4	-	13	2078	c.2068C>T	c.(2068-2070)Cgg>Tgg	p.R690W		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	690	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GCGATCCTCCGCAGCAGGCTG	0.687																																						uc002lyw.2		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(2068-2070)CGG>TGG		zinc finger RNA binding protein 2 isoform 1							23.0	29.0	27.0					19																	3816707		2147	4256	6403	SO:0001583	missense	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3816707G>A	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.2068C>T	19.37:g.3816707G>A	ENSP00000262961:p.Arg690Trp						p.R690W	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	13	2080	-			690						Missense_Mutation	SNP	ENST00000262961.4	37	c.2068C>T	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644512	0.29246	.	.	ENSG00000105278	ENST00000262961	T	0.43294	0.95	3.31	3.31	0.37934	DZF (2);	0.515192	0.17662	U	0.166266	T	0.56016	0.1957	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.57568	-0.7789	10	0.72032	D	0.01	-14.8533	7.7226	0.28742	0.0:0.0:0.7494:0.2506	.	690	Q9UPR6	ZFR2_HUMAN	W	690	ENSP00000262961:R690W	ENSP00000262961:R690W	R	-	1	2	ZFR2	3767707	0.004000	0.15560	0.050000	0.19076	0.025000	0.11179	0.992000	0.29667	1.667000	0.50832	0.478000	0.44815	CGG		0.687	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2		NM_015174		3	35	0	0	0	0.009096	0	3	35		
NMRK2	27231	broad.mit.edu	37	19	3938612	3938612	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:3938612C>T	ENST00000168977.2	+	5	468	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L	NMRK2_ENST00000593949.1_Silent_p.L65L|NMRK2_ENST00000599576.1_Silent_p.L51L	NM_170678.2	NP_733778.1	Q9NPI5	NRK2_HUMAN	nicotinamide riboside kinase 2	60					NAD biosynthetic process (GO:0009435)|negative regulation of myoblast differentiation (GO:0045662)	intracellular (GO:0005622)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										GCTGGAGTCTCTGGACATGGA	0.682																																						uc002lyz.3		NaN																	0				skin(2)	2						c.(178-180)CTG>TTG		integrin beta 1 binding protein 3							41.0	34.0	37.0					19																	3938612		2202	4300	6502	SO:0001819	synonymous_variant	27231				pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity	g.chr19:3938612C>T	AF190819	CCDS12115.1, CCDS74259.1	19p13.3	2013-10-28	2012-05-31	2012-05-31	ENSG00000077009	ENSG00000077009			17871	protein-coding gene	gene with protein product	"""muscle-specific beta 1 integrin binding protein"", ""nicotinamide riboside kinase 2"""	608705	"""integrin beta 1 binding protein 3"""	ITGB1BP3		10613898, 15137942	Standard	NM_170678		Approved	MIBP, NRK2	uc002lyz.4	Q9NPI5	OTTHUMG00000181758	ENST00000168977.2:c.178C>T	19.37:g.3938612C>T						ITGB1BP3_uc010xia.1_Silent_p.L65L	p.L60L	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)	5	468	+		Hepatocellular(1079;0.137)	60					B7ZKR3|Q52M81|Q9NZK3	Silent	SNP	ENST00000168977.2	37	c.178C>T	CCDS12115.1																																																																																				0.682	NMRK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457492.1		NM_014446, NM_170678		15	22	0	0	0	0.006122	0	15	22		
SNAPC2	6618	broad.mit.edu	37	19	7986331	7986331	+	Silent	SNP	C	C	G	rs370123987		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:7986331C>G	ENST00000221573.6	+	2	258	c.207C>G	c.(205-207)ctC>ctG	p.L69L	CTD-3193O13.1_ENST00000564226.1_RNA|SNAPC2_ENST00000595035.1_3'UTR|SNAPC2_ENST00000597584.1_5'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	69					gene expression (GO:0010467)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						TCCAGCAGCTCAAGGGCCGCG	0.622																																						uc002miw.1		NaN																	0					0						c.(205-207)CTC>CTG		small nuclear RNA activating complex,							64.0	70.0	68.0					19																	7986331		2203	4300	6503	SO:0001819	synonymous_variant	6618				snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr19:7986331C>G	U44898	CCDS12190.1	19p13	2008-07-22	2002-08-29			ENSG00000104976			11135	protein-coding gene	gene with protein product		605076	"""small nuclear RNA activating complex, polypeptide 2, 45kD"""			8633057	Standard	NM_003083		Approved	SNAP45, PTFdelta	uc002miw.2	Q13487		ENST00000221573.6:c.207C>G	19.37:g.7986331C>G						SNAPC2_uc002mix.1_RNA	p.L69L	NM_003083	NP_003074	Q13487	SNPC2_HUMAN			2	230	+			69					B2RBZ6|D6W663|Q13486	Silent	SNP	ENST00000221573.6	37	c.207C>G	CCDS12190.1																																																																																				0.622	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1		NM_003083		27	38	0	0	0	0.003755	0	27	38		
ADAMTS10	81794	broad.mit.edu	37	19	8665898	8665898	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:8665898C>G	ENST00000597188.1	-	6	994	c.724G>C	c.(724-726)Gag>Cag	p.E242Q	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.E242Q|ADAMTS10_ENST00000596709.1_5'UTR	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	242	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACCAGGGTCTCCACGTAGCGC	0.622																																						uc002mkj.1		NaN																	0				pancreas(2)|skin(2)	4						c.(724-726)GAG>CAG		ADAM metallopeptidase with thrombospondin type 1							96.0	83.0	87.0					19																	8665898		2203	4300	6503	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8665898C>G	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.724G>C	19.37:g.8665898C>G	ENSP00000471851:p.Glu242Gln					ADAMTS10_uc002mkk.1_5'UTR	p.E242Q	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			6	998	-			242			Peptidase M12B.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.724G>C	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107886	0.94292	.	.	ENSG00000142303	ENST00000270328	D	0.90324	-2.65	5.19	5.19	0.71726	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.95010	0.8385	M	0.89030	3	0.80722	D	1	P	0.39520	0.676	P	0.51055	0.657	D	0.95751	0.8792	10	0.87932	D	0	.	17.6925	0.88272	0.0:1.0:0.0:0.0	.	242	Q9H324	ATS10_HUMAN	Q	242	ENSP00000270328:E242Q	ENSP00000270328:E242Q	E	-	1	0	ADAMTS10	8571898	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.333000	0.79214	2.422000	0.82143	0.505000	0.49811	GAG		0.622	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3		NM_030957		45	60	0	0	0	0.01441	0	45	60		
MUC16	94025	broad.mit.edu	37	19	9082528	9082528	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9082528G>T	ENST00000397910.4	-	1	9490	c.9287C>A	c.(9286-9288)tCa>tAa	p.S3096*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3097	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTCTGGCTTGAGGTTAACTC	0.478																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(9286-9288)TCA>TAA		mucin 16							249.0	254.0	252.0					19																	9082528		1936	4148	6084	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9082528G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9287C>A	19.37:g.9082528G>T	ENSP00000381008:p.Ser3096*						p.S3096*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	9491	-			3097			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.9287C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	50	16.483552	0.99864	.	.	ENSG00000181143	ENST00000397910	.	.	.	0.541	0.541	0.17168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	3096	.	ENSP00000381008:S3096X	S	-	2	0	MUC16	8943528	0.094000	0.21725	0.031000	0.17742	0.040000	0.13550	1.292000	0.33342	0.524000	0.28502	0.313000	0.20887	TCA		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		82	73	1	0	4.03479e-65	0.01441	4.44007e-65	82	73		
MUC16	94025	broad.mit.edu	37	19	9082810	9082810	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9082810G>A	ENST00000397910.4	-	1	9208	c.9005C>T	c.(9004-9006)tCa>tTa	p.S3002L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3003	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCATAGCTGATGATGCCTT	0.507																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(9004-9006)TCA>TTA		mucin 16							135.0	135.0	135.0					19																	9082810		2111	4252	6363	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9082810G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9005C>T	19.37:g.9082810G>A	ENSP00000381008:p.Ser3002Leu						p.S3002L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	9209	-			3003			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.9005C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.232	-0.157144	0.06544	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	0.773	0.773	0.18516	.	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	.	.	.	P	0.51449	0.945	P	0.54965	0.765	T	0.44128	-0.9348	8	0.87932	D	0	.	4.823	0.13400	0.0:0.0:1.0:0.0	.	3002	B5ME49	.	L	3002	ENSP00000381008:S3002L	ENSP00000381008:S3002L	S	-	2	0	MUC16	8943810	0.002000	0.14202	0.004000	0.12327	0.016000	0.09150	1.009000	0.29886	0.680000	0.31366	0.313000	0.20887	TCA		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		50	55	0	0	0	0.01441	0	50	55		
MUC16	94025	broad.mit.edu	37	19	9083056	9083056	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9083056G>A	ENST00000397910.4	-	1	8962	c.8759C>T	c.(8758-8760)tCa>tTa	p.S2920L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2921	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTTGCATCTGAGTCTGGAAT	0.463																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(8758-8760)TCA>TTA		mucin 16							95.0	86.0	89.0					19																	9083056		1922	4136	6058	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9083056G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8759C>T	19.37:g.9083056G>A	ENSP00000381008:p.Ser2920Leu						p.S2920L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	8963	-			2921			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.8759C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	8.320	0.824044	0.16678	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	0.773	-0.823	0.10815	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	P	0.50710	0.938	B	0.41202	0.35	T	0.47484	-0.9114	8	0.87932	D	0	.	4.3187	0.11005	0.0:0.4329:0.567:0.0	.	2920	B5ME49	.	L	2920	ENSP00000381008:S2920L	ENSP00000381008:S2920L	S	-	2	0	MUC16	8944056	0.000000	0.05858	0.006000	0.13384	0.683000	0.39861	-0.167000	0.09940	-0.211000	0.10124	0.313000	0.20887	TCA		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		22	17	0	0	0	0.00333	0	22	17		
ZNF559	84527	broad.mit.edu	37	19	9453579	9453579	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9453579G>T	ENST00000393883.2	+	6	2100	c.1452G>T	c.(1450-1452)atG>atT	p.M484I	ZNF559_ENST00000538743.1_Missense_Mutation_p.M404I|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.M548I|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.M484I|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	484					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						CAGTACACATGAGAACTCACA	0.433																																						uc002mlg.2		NaN																	0				ovary(1)	1						c.(1450-1452)ATG>ATT		zinc finger protein 559							85.0	76.0	79.0					19																	9453579		2203	4300	6503	SO:0001583	missense	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9453579G>T	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1452G>T	19.37:g.9453579G>T	ENSP00000377461:p.Met484Ile					ZNF559_uc002mlf.2_Missense_Mutation_p.M253I|ZNF559_uc010dwl.1_Missense_Mutation_p.M253I|ZNF559_uc010xkn.1_Missense_Mutation_p.M476I|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.M548I|ZNF559_uc010dwk.1_Missense_Mutation_p.M253I|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	p.M484I	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN			7	2099	+			484			C2H2-type 12.		K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	c.1452G>T	CCDS12211.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343506	0.41498	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.10573	2.86;2.86	2.22	0.0647	0.14354	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08492	0.0211	L	0.38531	1.155	0.09310	N	0.999999	B;B;B	0.13145	0.007;0.002;0.007	B;B;B	0.12156	0.003;0.007;0.003	T	0.32508	-0.9904	9	0.66056	D	0.02	.	5.9934	0.19480	0.2951:0.0:0.7049:0.0	.	484;484;404	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	I	484;404;484	ENSP00000442832:M404I;ENSP00000377461:M484I	ENSP00000325393:M484I	M	+	3	0	ZNF559	9314579	0.000000	0.05858	0.007000	0.13788	0.896000	0.52359	-0.990000	0.03732	0.076000	0.16826	0.313000	0.20887	ATG		0.433	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1		NM_032497		28	29	1	0	4.3181e-19	0.013726	4.60784e-19	28	29		
ZNF177	7730	broad.mit.edu	37	19	9492184	9492184	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9492184G>C	ENST00000589262.1	+	6	1243	c.1177G>C	c.(1177-1179)Gag>Cag	p.E393Q	ZNF177_ENST00000541595.2_Missense_Mutation_p.E233Q|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000602738.1_Missense_Mutation_p.E233Q|ZNF177_ENST00000434737.2_Missense_Mutation_p.E393Q|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000343499.4_Missense_Mutation_p.E233Q	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	393					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						TCACACTGGAGAGAAGCCTTA	0.468																																						uc002mli.2		NaN																	0				ovary(1)	1						c.(697-699)GAG>CAG		zinc finger protein 177							171.0	171.0	171.0					19																	9492184		2203	4300	6503	SO:0001583	missense	7730				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9492184G>C	U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.1177G>C	19.37:g.9492184G>C	ENSP00000468531:p.Glu393Gln					ZNF177_uc002mlj.2_Missense_Mutation_p.E183Q|ZNF177_uc002mlk.2_Missense_Mutation_p.E233Q	p.E233Q	NM_003451	NP_003442	Q13360	ZN177_HUMAN			12	1360	+			233					B4DY57|E9PDG0|I3L0I4|Q96ER2	Missense_Mutation	SNP	ENST00000589262.1	37	c.697G>C	CCDS54214.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975459	0.34848	.	.	ENSG00000188629	ENST00000541595;ENST00000343499;ENST00000434737	T;T;T	0.25912	1.77;1.77;1.77	2.49	2.49	0.30216	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28200	0.0696	M	0.67953	2.075	0.23585	N	0.997355	P;P	0.46784	0.884;0.769	B;B	0.43413	0.419;0.396	T	0.44390	-0.9331	8	0.66056	D	0.02	.	7.3563	0.26721	0.0:0.2741:0.7259:0.0	.	393;233	B4DY57;Q13360	.;ZN177_HUMAN	Q	233;233;393	ENSP00000445323:E233Q;ENSP00000341497:E233Q;ENSP00000415070:E393Q	ENSP00000341497:E233Q	E	+	1	0	ZNF177	9353184	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	7.165000	0.77544	1.718000	0.51419	0.563000	0.77884	GAG		0.468	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449028.1		NM_003451		55	101	0	0	0	0.01441	0	55	101		
ZNF846	162993	broad.mit.edu	37	19	9868234	9868234	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9868234C>A	ENST00000397902.2	-	6	1932	c.1519G>T	c.(1519-1521)Gaa>Taa	p.E507*	ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	507					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TTCTTACATTCATATGGTTTT	0.393																																						uc002mmb.1		NaN																	0				ovary(1)	1						c.(1519-1521)GAA>TAA		zinc finger protein 846							134.0	144.0	141.0					19																	9868234		2130	4273	6403	SO:0001587	stop_gained	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9868234C>A	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1519G>T	19.37:g.9868234C>A	ENSP00000380999:p.Glu507*					ZNF846_uc010xky.1_Intron|ZNF846_uc010xkz.1_Intron|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_Nonsense_Mutation_p.E378*	p.E507*	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN			6	2050	-			507			C2H2-type 14; degenerate.		A8K0H1|B3KUP1	Nonsense_Mutation	SNP	ENST00000397902.2	37	c.1519G>T	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	37	6.331170	0.97480	.	.	ENSG00000196605	ENST00000397902	.	.	.	1.59	-1.23	0.09465	.	.	.	.	.	.	.	.	.	.	.	0.34456	D	0.701242	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	2.6051	0.04876	0.2347:0.471:0.0:0.2943	.	.	.	.	X	507	.	ENSP00000380999:E507X	E	-	1	0	ZNF846	9729234	0.000000	0.05858	0.001000	0.08648	0.388000	0.30384	-5.717000	0.00102	-0.306000	0.08818	0.456000	0.33151	GAA		0.393	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1		NM_001077624		42	81	1	0	3.39706e-21	0.01441	3.65666e-21	42	81		
ZNF846	162993	broad.mit.edu	37	19	9868950	9868950	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9868950C>A	ENST00000397902.2	-	6	1216	c.803G>T	c.(802-804)gGa>gTa	p.G268V	ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Missense_Mutation_p.G139V|ZNF846_ENST00000588267.1_Missense_Mutation_p.G139V	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	268					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TAATTTAAGTCCTGTGGATTG	0.388																																						uc002mmb.1		NaN																	0				ovary(1)	1						c.(802-804)GGA>GTA		zinc finger protein 846							78.0	81.0	80.0					19																	9868950		2061	4230	6291	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9868950C>A	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.803G>T	19.37:g.9868950C>A	ENSP00000380999:p.Gly268Val					ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Missense_Mutation_p.G139V|ZNF846_uc002mmc.1_Missense_Mutation_p.G139V	p.G268V	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN			6	1334	-			268			C2H2-type 5.		A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.803G>T	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	14.06	2.423056	0.43020	.	.	ENSG00000196605	ENST00000397902	T	0.07444	3.19	1.37	0.282	0.15692	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05364	0.0142	N	0.26092	0.79	0.09310	N	1	B	0.33299	0.407	B	0.34652	0.187	T	0.41875	-0.9484	8	.	.	.	.	3.8567	0.08979	0.0:0.5597:0.0:0.4403	.	268	Q147U1	ZN846_HUMAN	V	268	ENSP00000380999:G268V	.	G	-	2	0	ZNF846	9729950	0.000000	0.05858	0.003000	0.11579	0.907000	0.53573	-2.062000	0.01390	0.145000	0.18977	0.456000	0.33151	GGA		0.388	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1		NM_001077624		28	40	1	0	9.65021e-13	0.010818	1.0144e-12	28	40		
ZNF846	162993	broad.mit.edu	37	19	9869338	9869338	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:9869338C>T	ENST00000397902.2	-	6	828	c.415G>A	c.(415-417)Gag>Aag	p.E139K	ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Missense_Mutation_p.E10K|ZNF846_ENST00000588267.1_Missense_Mutation_p.E10K	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						GAAGTTTTCTCTCCAATGTGA	0.378																																						uc002mmb.1		NaN																	0				ovary(1)	1						c.(415-417)GAG>AAG		zinc finger protein 846							124.0	115.0	118.0					19																	9869338		1817	4088	5905	SO:0001583	missense	162993				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9869338C>T	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.415G>A	19.37:g.9869338C>T	ENSP00000380999:p.Glu139Lys					ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Missense_Mutation_p.E10K|ZNF846_uc002mmc.1_Missense_Mutation_p.E10K	p.E139K	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN			6	946	-			139					A8K0H1|B3KUP1	Missense_Mutation	SNP	ENST00000397902.2	37	c.415G>A	CCDS42496.1	.	.	.	.	.	.	.	.	.	.	.	13.91	2.378943	0.42207	.	.	ENSG00000196605	ENST00000397902	T	0.19806	2.12	2.15	-1.56	0.08532	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21103	0.0508	M	0.75150	2.29	0.09310	N	1	B	0.20550	0.046	B	0.17979	0.02	T	0.29119	-1.0022	8	.	.	.	.	6.8449	0.23982	0.0:0.6428:0.216:0.1412	.	139	Q147U1	ZN846_HUMAN	K	139	ENSP00000380999:E139K	.	E	-	1	0	ZNF846	9730338	0.048000	0.20356	0.000000	0.03702	0.564000	0.35744	1.463000	0.35277	-0.250000	0.09555	0.558000	0.71614	GAG		0.378	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450253.1		NM_001077624		27	47	0	0	0	0.009535	0	27	47		
DNMT1	1786	broad.mit.edu	37	19	10266565	10266565	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:10266565C>T	ENST00000340748.4	-	18	1643	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	DNMT1_ENST00000359526.4_Missense_Mutation_p.D486N|DNMT1_ENST00000540357.1_Missense_Mutation_p.D470N			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	470	DNA replication foci-targeting sequence. {ECO:0000250}.|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TCACCTCCATCAAAGCCAGTG	0.502																																						uc002mng.2		NaN																	0				ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6						c.(1408-1410)GAT>AAT		DNA (cytosine-5-)-methyltransferase 1 isoform b	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						70.0	55.0	60.0					19																	10266565		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10266565C>T	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1408G>A	19.37:g.10266565C>T	ENSP00000345739:p.Asp470Asn					DNMT1_uc010xlc.1_Missense_Mutation_p.D486N|DNMT1_uc002mnh.2_Missense_Mutation_p.D365N|DNMT1_uc010xld.1_Missense_Mutation_p.D470N	p.D470N	NM_001379	NP_001370	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		18	1588	-			470			DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.1408G>A	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	35	5.552000	0.96501	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.78595	-1.19;-1.19;-1.19	5.65	5.65	0.86999	DNA (cytosine-5)-methyltransferase 1, replication foci domain (1);	0.000000	0.85682	D	0.000000	D	0.89667	0.6781	M	0.85542	2.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90330	0.4351	10	0.87932	D	0	.	18.6545	0.91445	0.0:1.0:0.0:0.0	.	470;486;470	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	N	486;470;470;338	ENSP00000352516:D486N;ENSP00000440457:D470N;ENSP00000345739:D470N	ENSP00000345739:D470N	D	-	1	0	DNMT1	10127565	1.000000	0.71417	0.586000	0.28679	0.955000	0.61496	7.403000	0.79983	2.941000	0.99782	0.655000	0.94253	GAT		0.502	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1		NM_001379		10	16	0	0	0	0.001855	0	10	16		
ATG4D	84971	broad.mit.edu	37	19	10663612	10663612	+	Missense_Mutation	SNP	G	G	A	rs376428796		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:10663612G>A	ENST00000309469.4	+	10	1467	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	MIR1238_ENST00000408483.1_RNA|ATG4D_ENST00000540862.1_Missense_Mutation_p.E99K|RNU7-140P_ENST00000459546.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	432					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)	p.E432K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CACCCTGGCCGAGGGCCATGC	0.662																																						uc002mov.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(1294-1296)GAG>AAG		APG4 autophagy 4 homolog D		G	LYS/GLU	0,4406		0,0,2203	87.0	77.0	80.0		1294	5.1	1.0	19		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATG4D	NM_032885.4	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	432/475	10663612	1,13005	2203	4300	6503	SO:0001583	missense	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10663612G>A	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.1294G>A	19.37:g.10663612G>A	ENSP00000311318:p.Glu432Lys					ATG4D_uc010xlh.1_Missense_Mutation_p.E369K|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Missense_Mutation_p.E99K	p.E432K	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		10	1414	+			432					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.1294G>A	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232663	0.79688	0.0	1.16E-4	ENSG00000130734	ENST00000309469;ENST00000540862	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.38852	0.1056	L	0.34521	1.04	0.80722	D	1	P;P	0.42827	0.566;0.791	B;B	0.31245	0.126;0.126	T	0.31364	-0.9946	9	0.30078	T	0.28	-9.1337	17.6263	0.88095	0.0:0.0:1.0:0.0	.	369;432	B4DGM8;Q86TL0	.;ATG4D_HUMAN	K	432;99	.	ENSP00000311318:E432K	E	+	1	0	ATG4D	10524612	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	8.392000	0.90180	2.539000	0.85634	0.591000	0.81541	GAG		0.662	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1		NM_032885		79	90	0	0	0	0.01441	0	79	90		
SMARCA4	6597	broad.mit.edu	37	19	11123777	11123777	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:11123777C>T	ENST00000429416.3	+	17	2708	c.2427C>T	c.(2425-2427)atC>atT	p.I809I	CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000344626.4_Silent_p.I809I|SMARCA4_ENST00000589677.1_Silent_p.I809I|SMARCA4_ENST00000358026.2_Silent_p.I809I|SMARCA4_ENST00000590574.1_Silent_p.I809I|RN7SL192P_ENST00000584303.1_RNA|SMARCA4_ENST00000444061.3_Silent_p.I809I|SMARCA4_ENST00000413806.3_Silent_p.I809I|SMARCA4_ENST00000541122.2_Silent_p.I809I|SMARCA4_ENST00000450717.3_Silent_p.I809I	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	809	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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.?(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)				TCCTCATCATCGTGCCTCTCT	0.567			"""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		1	Unknown(1)	p.?(1)	lung(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.(2425-2427)ATC>ATT		SWI/SNF-related matrix-associated							148.0	76.0	101.0					19																	11123777		2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:11123777C>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.2427C>T	19.37:g.11123777C>T						SMARCA4_uc010dxp.2_Silent_p.I809I|SMARCA4_uc010dxo.2_Silent_p.I809I|SMARCA4_uc002mqg.1_Silent_p.I809I|SMARCA4_uc010dxq.2_Silent_p.I809I|SMARCA4_uc010dxr.2_Silent_p.I809I|SMARCA4_uc002mqj.3_Silent_p.I809I|SMARCA4_uc010dxs.2_Silent_p.I809I|SMARCA4_uc010dxt.1_Silent_p.I29I	p.I809I	NM_003072	NP_003063	P51532	SMCA4_HUMAN			16	2711	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	809			Helicase ATP-binding.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.2427C>T	CCDS12253.1																																																																																				0.567	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2		NM_003072		18	26	0	0	0	0.003954	0	18	26		
ACP5	54	broad.mit.edu	37	19	11687649	11687649	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:11687649C>G	ENST00000592828.1	-	5	673	c.271G>C	c.(271-273)Gag>Cag	p.E91Q	ACP5_ENST00000433365.2_Missense_Mutation_p.E91Q|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000412435.2_Missense_Mutation_p.E91Q|ACP5_ENST00000218758.5_Missense_Mutation_p.E91Q	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	91					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						AATACGTCCTCAAAGGTCTCC	0.552																																						uc002msg.3		NaN																	0				central_nervous_system(1)	1						c.(271-273)GAG>CAG		acid phosphatase 5, tartrate resistant							123.0	107.0	113.0					19																	11687649		2203	4300	6503	SO:0001583	missense	54				water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding	g.chr19:11687649C>G	X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"""tartrate-resistant acid phosphatase"""	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.271G>C	19.37:g.11687649C>G	ENSP00000468767:p.Glu91Gln					ACP5_uc002msh.3_Missense_Mutation_p.E91Q|ACP5_uc002msi.3_Missense_Mutation_p.E91Q|ACP5_uc002msj.3_Missense_Mutation_p.E91Q|ACP5_uc010dye.1_3'UTR	p.E91Q	NM_001611	NP_001602	P13686	PPA5_HUMAN			3	417	-			91					A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Missense_Mutation	SNP	ENST00000592828.1	37	c.271G>C	CCDS12265.1	.	.	.	.	.	.	.	.	.	.	c	22.0	4.235978	0.79800	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	T;T;T	0.69806	-0.43;-0.43;-0.43	4.87	4.87	0.63330	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.83092	0.5179	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86078	0.1542	10	0.72032	D	0.01	-15.4528	16.7604	0.85510	0.0:1.0:0.0:0.0	.	91	P13686	PPA5_HUMAN	Q	91	ENSP00000218758:E91Q;ENSP00000392374:E91Q;ENSP00000413456:E91Q	ENSP00000218758:E91Q	E	-	1	0	ACP5	11548649	1.000000	0.71417	0.998000	0.56505	0.504000	0.33889	6.868000	0.75516	2.246000	0.74042	0.655000	0.94253	GAG		0.552	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458881.1				54	48	0	0	0	0.01441	0	54	48		
ZNF844	284391	broad.mit.edu	37	19	12187443	12187443	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:12187443C>G	ENST00000439326.3	+	4	1683	c.1508C>G	c.(1507-1509)cCt>cGt	p.P503R	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	503					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.P503R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCCTATGAGTGTA	0.413																																						uc002mtb.2		NaN																	1	Substitution - Missense(1)		kidney(1)		0						c.(1507-1509)CCT>CGT		zinc finger protein 844							81.0	74.0	76.0					19																	12187443		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187443C>G	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1508C>G	19.37:g.12187443C>G	ENSP00000392024:p.Pro503Arg					ZNF844_uc010dym.1_Missense_Mutation_p.P346R	p.P503R	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN			4	1651	+			503					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1508C>G	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889734	0.33348	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.06142	3.34	2.75	-4.15	0.03881	.	.	.	.	.	T	0.07593	0.0191	M	0.76328	2.33	0.25823	N	0.984265	B	0.18741	0.03	B	0.12837	0.008	T	0.38950	-0.9637	9	0.72032	D	0.01	.	4.1302	0.10146	0.2954:0.1754:0.0:0.5292	.	503	Q08AG5	ZN844_HUMAN	R	503	ENSP00000392024:P503R	ENSP00000392024:P503R	P	+	2	0	ZNF844	12048443	0.000000	0.05858	0.005000	0.12908	0.063000	0.16089	-4.308000	0.00255	-0.695000	0.05105	0.411000	0.27672	CCT		0.413	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2				6	55	0	0	0	0.001984	0	6	55		
PRDX2	7001	broad.mit.edu	37	19	12911854	12911854	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:12911854G>C	ENST00000301522.2	-	3	261	c.133C>G	c.(133-135)Ctg>Gtg	p.L45V	PRDX2_ENST00000334482.5_Missense_Mutation_p.L45V|CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000435703.1_Missense_Mutation_p.L45V	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	45	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of apoptotic process (GO:0042981)|removal of superoxide radicals (GO:0019430)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GTGAAGTCCAGAGGGTAGAAA	0.602																																						uc002mvd.2		NaN																	0					0						c.(133-135)CTG>GTG		peroxiredoxin 2 isoform a							49.0	47.0	48.0					19																	12911854		2203	4300	6503	SO:0001583	missense	7001				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity	g.chr19:12911854G>C		CCDS12281.1	19p13.2	2008-07-17			ENSG00000167815	ENSG00000167815			9353	protein-coding gene	gene with protein product	"""thioredoxin-dependent peroxide reductase 1"", ""thiol-specific antioxidant 1"", ""natural killer-enhancing factor B"", ""thioredoxin peroxidase 1"", ""torin"""	600538		TDPX1		7607688	Standard	NM_005809		Approved	PRP, NKEFB, TSA, PRXII, PRX2, MGC4104	uc002mvd.4	P32119	OTTHUMG00000134285	ENST00000301522.2:c.133C>G	19.37:g.12911854G>C	ENSP00000301522:p.Leu45Val					PRDX2_uc002mve.1_Missense_Mutation_p.L45V	p.L45V	NM_005809	NP_005800	P32119	PRDX2_HUMAN			3	283	-			45			Thioredoxin.		A8K0C0|P31945|P32118|P35701|Q6FHG4|Q92763|Q9UC23	Missense_Mutation	SNP	ENST00000301522.2	37	c.133C>G	CCDS12281.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747853	0.69533	.	.	ENSG00000167815	ENST00000334482;ENST00000301522;ENST00000435703	T;T;T	0.14516	2.5;2.5;2.5	4.67	0.103	0.14526	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.46758	D	0.000270	T	0.40570	0.1122	M	0.93328	3.405	0.40429	D	0.979928	D;D	0.76494	0.999;0.975	D;P	0.87578	0.998;0.891	T	0.37244	-0.9714	10	0.87932	D	0	-33.1305	7.336	0.26609	0.5615:0.0:0.4385:0.0	.	45;45	A8K0C0;P32119	.;PRDX2_HUMAN	V	45	ENSP00000334063:L45V;ENSP00000301522:L45V;ENSP00000408905:L45V	ENSP00000301522:L45V	L	-	1	2	PRDX2	12772854	0.986000	0.35501	0.850000	0.33497	0.988000	0.76386	1.902000	0.39848	0.083000	0.17047	0.455000	0.32223	CTG		0.602	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258950.2		NM_005809		20	25	0	0	0	0.014323	0	20	25		
IER2	9592	broad.mit.edu	37	19	13264409	13264409	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:13264409C>T	ENST00000588173.1	+	1	1621	c.409C>T	c.(409-411)Ccg>Tcg	p.P137S	CTC-250I14.6_ENST00000586483.1_RNA|IER2_ENST00000587885.1_Missense_Mutation_p.P137S|IER2_ENST00000292433.3_Missense_Mutation_p.P137S|CTC-250I14.6_ENST00000592882.1_RNA			Q9BTL4	IER2_HUMAN	immediate early response 2	137						cytoplasm (GO:0005737)				kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			TGGACTGGTCCCGAGCAAGAA	0.687											OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mwr.2		NaN																	0				kidney(1)	1						c.(409-411)CCG>TCG		immediate early response 2							14.0	16.0	15.0					19																	13264409		2185	4279	6464	SO:0001583	missense	9592							g.chr19:13264409C>T	M62831	CCDS12295.1	19p13.13	2008-02-05				ENSG00000160888			28871	protein-coding gene	gene with protein product						2061303	Standard	NM_004907		Approved	ETR101	uc002mwr.3	Q9BTL4		ENST00000588173.1:c.409C>T	19.37:g.13264409C>T	ENSP00000465617:p.Pro137Ser		OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	686		p.P137S	NM_004907	NP_004898	Q9BTL4	IER2_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)		2	737	+			137					Q03827|Q2TAZ2	Missense_Mutation	SNP	ENST00000588173.1	37	c.409C>T	CCDS12295.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092956	0.76756	.	.	ENSG00000160888	ENST00000292433	T	0.18502	2.21	4.38	4.38	0.52667	.	0.000000	0.64402	U	0.000004	T	0.23766	0.0575	N	0.24115	0.695	0.46279	D	0.998964	P	0.52316	0.952	P	0.60286	0.872	T	0.02358	-1.1171	10	0.66056	D	0.02	-10.4211	12.4629	0.55741	0.0:1.0:0.0:0.0	.	137	Q9BTL4	IER2_HUMAN	S	137	ENSP00000292433:P137S	ENSP00000292433:P137S	P	+	1	0	IER2	13125409	0.952000	0.32445	0.671000	0.29857	0.692000	0.40212	3.773000	0.55333	1.993000	0.58246	0.462000	0.41574	CCG		0.687	IER2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453033.1		NM_004907		4	2	0	0	0	0.009096	0	4	2		
CYP4F12	66002	broad.mit.edu	37	19	15806821	15806821	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:15806821C>T	ENST00000550308.1	+	10	1571	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F	CYP4F12_ENST00000324632.10_Silent_p.F397F	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	397					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CAGCTCCCTTCATCTCCCGAT	0.617																																						uc002nbl.2		NaN																	0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(1189-1191)TTC>TTT		cytochrome P450, family 4, subfamily F,							94.0	92.0	92.0					19																	15806821		2203	4300	6503	SO:0001819	synonymous_variant	66002							g.chr19:15806821C>T	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1191C>T	19.37:g.15806821C>T							p.F397F	NM_023944	NP_076433					10	1252	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	c.1191C>T	CCDS42517.1																																																																																				0.617	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9				48	64	0	0	0	0.01441	0	48	64		
CYP4F12	66002	broad.mit.edu	37	19	15807291	15807291	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:15807291C>G	ENST00000550308.1	+	12	1746	c.1366C>G	c.(1366-1368)Ctg>Gtg	p.L456V	CYP4F12_ENST00000324632.10_Missense_Mutation_p.L456V	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	456					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GAGGTCACCTCTGGCTTTTAT	0.557																																						uc002nbl.2		NaN																	0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(1366-1368)CTG>GTG		cytochrome P450, family 4, subfamily F,							129.0	122.0	124.0					19																	15807291		2203	4300	6503	SO:0001583	missense	66002							g.chr19:15807291C>G	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1366C>G	19.37:g.15807291C>G	ENSP00000448998:p.Leu456Val						p.L456V	NM_023944	NP_076433					12	1427	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.1366C>G	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	3.956	-0.011341	0.07727	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.79352	-1.26;-1.26	2.31	1.27	0.21489	.	0.225464	0.29480	U	0.012032	T	0.68366	0.2993	L	0.42632	1.34	0.25002	N	0.991463	B	0.26902	0.163	B	0.37451	0.25	T	0.56547	-0.7961	10	0.33141	T	0.24	.	4.413	0.11443	0.0:0.6714:0.0:0.3286	.	456	Q9HCS2	CP4FC_HUMAN	V	456	ENSP00000448998:L456V;ENSP00000321821:L456V	ENSP00000321821:L456V	L	+	1	2	CYP4F12	15668291	0.010000	0.17322	0.885000	0.34714	0.243000	0.25628	0.029000	0.13666	0.532000	0.28657	0.313000	0.20887	CTG		0.557	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9				63	99	0	0	0	0.01441	0	63	99		
C19orf44	84167	broad.mit.edu	37	19	16631645	16631645	+	3'UTR	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:16631645C>G	ENST00000221671.3	+	0	2911				CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000546361.2_Missense_Mutation_p.K731N|CHERP_ENST00000198939.6_Missense_Mutation_p.K742N|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						ACCTGTTCCTCTTCTCCTGGC	0.592																																						uc002nei.1		NaN																	0				ovary(2)	2						c.(2191-2193)AAG>AAC		calcium homeostasis endoplasmic reticulum							86.0	95.0	92.0					19																	16631645		1991	4159	6150	SO:0001624	3_prime_UTR_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16631645C>G	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.*781C>G	19.37:g.16631645C>G						MED26_uc002nee.2_Intron|C19orf44_uc002neh.1_3'UTR|C19orf44_uc010eai.1_RNA|CHERP_uc010xpg.1_Missense_Mutation_p.K270N	p.K731N	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN			13	2267	-			731			Arg-rich.		Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.2193G>C	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267724	0.59540	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.23552	1.9;1.9	4.99	4.99	0.66335	.	.	.	.	.	T	0.40297	0.1111	L	0.40543	1.245	0.49213	D	0.999763	D	0.71674	0.998	D	0.73708	0.981	T	0.07009	-1.0795	9	0.16420	T	0.52	-29.7699	17.2542	0.87051	0.0:1.0:0.0:0.0	.	731	Q8IWX8	CHERP_HUMAN	N	731;742	ENSP00000439856:K731N;ENSP00000198939:K742N	ENSP00000198939:K742N	K	-	3	2	CHERP	16492645	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	1.644000	0.37228	2.323000	0.78572	0.462000	0.41574	AAG		0.592	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1		NM_032207		36	47	0	0	0	0.010771	0	36	47		
USHBP1	83878	broad.mit.edu	37	19	17362467	17362467	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:17362467C>T	ENST00000252597.3	-	12	2019	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K	USHBP1_ENST00000431146.2_Missense_Mutation_p.E552K|AC010646.3_ENST00000594059.1_5'UTR	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GCCACCTGTTCCAGCTCCCTG	0.607																																						uc002nfs.1		NaN																	0				ovary(1)	1						c.(1846-1848)GAA>AAA		Usher syndrome 1C binding protein 1							82.0	81.0	81.0					19																	17362467		2203	4300	6503	SO:0001583	missense	83878						PDZ domain binding	g.chr19:17362467C>T	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1846G>A	19.37:g.17362467C>T	ENSP00000252597:p.Glu616Lys					USHBP1_uc002nfr.1_Missense_Mutation_p.E242K|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.E552K	p.E616K	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN			12	1959	-			616			Potential.			Missense_Mutation	SNP	ENST00000252597.3	37	c.1846G>A	CCDS12353.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.718430	0.30503	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.29655	1.59;1.56	4.28	4.28	0.50868	.	0.181657	0.37261	N	0.002165	T	0.31358	0.0794	M	0.72894	2.215	0.80722	D	1	B;B	0.33266	0.404;0.404	B;B	0.24848	0.056;0.056	T	0.31806	-0.9930	10	0.72032	D	0.01	-6.5023	12.5908	0.56441	0.0:1.0:0.0:0.0	.	552;616	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	K	616;552	ENSP00000252597:E616K;ENSP00000407902:E552K	ENSP00000252597:E616K	E	-	1	0	USHBP1	17223467	1.000000	0.71417	0.368000	0.25939	0.059000	0.15707	3.669000	0.54561	2.108000	0.64289	0.561000	0.74099	GAA		0.607	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463328.1		NM_031941		46	82	0	0	0	0.01441	0	46	82		
MAST3	23031	broad.mit.edu	37	19	18255941	18255941	+	Missense_Mutation	SNP	G	G	T	rs200457728		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:18255941G>T	ENST00000262811.6	+	23	2854	c.2854G>T	c.(2854-2856)Gtt>Ttt	p.V952F	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	952	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCCCCCCATCGTTATCCACAG	0.652																																						uc002nhz.3		NaN																	0		p.S952L(1)		large_intestine(2)|ovary(2)|stomach(1)	5						c.(2854-2856)GTT>TTT		microtubule associated serine/threonine kinase							94.0	101.0	98.0					19																	18255941		2041	4191	6232	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18255941G>T	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2854G>T	19.37:g.18255941G>T	ENSP00000262811:p.Val952Phe						p.V952F	NM_015016	NP_055831	O60307	MAST3_HUMAN			23	2854	+			952			PDZ.		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.2854G>T	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363628	0.61513	.	.	ENSG00000099308	ENST00000262811	T	0.46063	0.88	4.72	0.934	0.19477	PDZ/DHR/GLGF (2);	0.212709	0.38720	N	0.001582	T	0.48205	0.1487	L	0.47190	1.495	0.45378	D	0.998363	D	0.55800	0.973	D	0.63033	0.91	T	0.44360	-0.9333	10	0.87932	D	0	-29.4811	6.9692	0.24639	0.4711:0.0:0.5289:0.0	.	952	O60307	MAST3_HUMAN	F	952	ENSP00000262811:V952F	ENSP00000262811:V952F	V	+	1	0	MAST3	18116941	0.976000	0.34144	0.994000	0.49952	0.628000	0.37860	1.449000	0.35123	0.428000	0.26173	0.313000	0.20887	GTT		0.652	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2		XM_038150		74	105	1	0	2.76863e-45	0.01441	3.03319e-45	74	105		
ZNF626	199777	broad.mit.edu	37	19	20808090	20808090	+	Missense_Mutation	SNP	C	C	T	rs202218510		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:20808090C>T	ENST00000601440.1	-	4	739	c.593G>A	c.(592-594)gGg>gAg	p.G198E	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTAGGGTTTCCCTCCAGTATG	0.363																																						uc002npb.1		NaN																	0				skin(1)	1						c.(592-594)GGG>GAG		zinc finger protein 626 isoform 1							52.0	54.0	54.0					19																	20808090		2128	4271	6399	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20808090C>T	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.593G>A	19.37:g.20808090C>T	ENSP00000469958:p.Gly198Glu					ZNF626_uc002npc.1_Missense_Mutation_p.G122E	p.G198E	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			4	743	-			198					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.593G>A	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.007	-1.941947	0.00479	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.832	-0.483	0.12075	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05914	0.0154	N	0.00071	-2.27	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43410	-0.9393	8	0.02654	T	1	.	3.3961	0.07307	0.0:0.3539:0.0:0.6461	.	198	Q68DY1	ZN626_HUMAN	E	198;122;198	.	ENSP00000445201:G198E	G	-	2	0	ZNF626	20599930	0.011000	0.17503	0.160000	0.22671	0.160000	0.22226	0.267000	0.18552	0.171000	0.19730	0.174000	0.16983	GGG		0.363	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2		NM_145297		3	44	0	0	0	0.009096	0	3	44		
ZNF43	7594	broad.mit.edu	37	19	21990730	21990730	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:21990730C>T	ENST00000354959.4	-	4	2278	c.2109G>A	c.(2107-2109)gaG>gaA	p.E703E	ZNF43_ENST00000598381.1_Silent_p.E697E|ZNF43_ENST00000594012.1_Silent_p.E697E|ZNF43_ENST00000595461.1_Silent_p.E697E	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	703					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TGTAGGGTTTCTCTCCAGTAT	0.363																																						uc002nqj.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(2107-2109)GAG>GAA		zinc finger protein 43							45.0	49.0	48.0					19																	21990730		2186	4290	6476	SO:0001819	synonymous_variant	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21990730C>T	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2109G>A	19.37:g.21990730C>T						ZNF43_uc010ecv.2_Silent_p.E697E|ZNF43_uc002nql.2_Silent_p.E697E|ZNF43_uc002nqm.2_Silent_p.E697E|ZNF43_uc002nqk.2_Silent_p.E633E	p.E703E	NM_003423	NP_003414	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	4	2239	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	703					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	c.2109G>A	CCDS12413.2																																																																																				0.363	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2		NM_003423		20	24	0	0	0	0.014323	0	20	24		
U2AF1L4	199746	broad.mit.edu	37	19	36233667	36233667	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:36233667C>G	ENST00000412391.2	-	8	629	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	PSENEN_ENST00000222266.2_5'Flank|IGFLR1_ENST00000344990.3_5'Flank|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.E167Q|IGFLR1_ENST00000592889.1_5'Flank|IGFLR1_ENST00000592537.1_5'Flank|U2AF1L4_ENST00000292879.5_Missense_Mutation_p.E147D|IGFLR1_ENST00000587101.1_5'Flank|AD000671.6_ENST00000589807.1_Intron|PSENEN_ENST00000591949.1_5'Flank|U2AF1L4_ENST00000588100.1_5'Flank|AC002398.9_ENST00000591613.2_5'Flank|IGFLR1_ENST00000246532.1_5'Flank|PSENEN_ENST00000587708.2_5'Flank|IGFLR1_ENST00000588992.1_5'Flank			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	206					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGTTCCTCTCTCGGGGATGG	0.602																																						uc002obg.2		NaN																	0					0						c.(511-513)GAG>GAC		Homo sapiens cDNA FLJ35525 fis, clone SPLEN2001650.							80.0	89.0	86.0					19																	36233667		2203	4300	6503	SO:0001583	missense	199746				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding	g.chr19:36233667C>G	BC021186, AY569437	CCDS12473.1, CCDS42551.1	19q13.13	2013-02-12	2006-04-12	2006-04-12		ENSG00000161265		"""RNA binding motif (RRM) containing"""	23020	protein-coding gene	gene with protein product		601080	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 3"", ""U2 small nuclear RNA auxiliary factor 1-like 3"""	U2AF1L3		8586425, 11739736	Standard	NM_001040425		Approved	MGC33901, U2af26	uc002obf.3	Q8WU68		ENST00000412391.2:c.616G>C	19.37:g.36233667C>G	ENSP00000397645:p.Glu206Gln					TMEM149_uc002obb.2_5'Flank|TMEM149_uc002obc.2_5'Flank|TMEM149_uc002obd.3_5'Flank|TMEM149_uc010xsy.1_5'Flank|TMEM149_uc010eej.2_Intron|U2AF1L4_uc002obh.1_3'UTR|U2AF1L4_uc002obe.2_Missense_Mutation_p.E167Q|U2AF1L4_uc002obf.2_Missense_Mutation_p.E147D|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank	p.E171D			Q8WU68	U2AF4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		8	822	-	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		Error:Variant_position_missing_in_Q8WU68_after_alignment					A6NKI8|Q56UU3	Missense_Mutation	SNP	ENST00000412391.2	37	c.513G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.155|4.155	0.027243|0.027243	0.08054|0.08054	.|.	.|.	ENSG00000161265|ENSG00000161265	ENST00000292879|ENST00000378975;ENST00000412391	.|.	.|.	.|.	5.46|5.46	4.41|4.41	0.53225|0.53225	.|.	1.099460|1.099460	0.06950|0.06950	N|N	0.814367|0.814367	T|T	0.32041|0.32041	0.0816|0.0816	.|.	.|.	.|.	0.30758|0.30758	N|N	0.744372|0.744372	B|B	0.09022|0.32573	0.002|0.376	B|B	0.08055|0.35688	0.003|0.208	T|T	0.18085|0.18085	-1.0348|-1.0348	8|8	0.52906|0.12430	T|T	0.07|0.62	-3.1346|-3.1346	12.2145|12.2145	0.54398|0.54398	0.0:0.8282:0.1718:0.0|0.0:0.8282:0.1718:0.0	.|.	147|167	Q8WU68-2|Q8WU68-3	.|.	D|Q	147|167;206	.|.	ENSP00000292879:E147D|ENSP00000368258:E167Q	E|E	-|-	3|1	2|0	U2AF1L4|U2AF1L4	40925507|40925507	0.984000|0.984000	0.35163|0.35163	0.459000|0.459000	0.27081|0.27081	0.001000|0.001000	0.01503|0.01503	3.769000|3.769000	0.55303|0.55303	1.283000|1.283000	0.44513|0.44513	-0.302000|-0.302000	0.09304|0.09304	GAG|GAG		0.602	U2AF1L4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_144987		46	74	0	0	0	0.01441	0	46	74		
CEACAM8	1088	broad.mit.edu	37	19	43097723	43097723	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:43097723C>T	ENST00000244336.5	-	2	495	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	132	Ig-like V-type.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GTTACTTCTTCACTCATAAGA	0.483																																						uc002oud.2		NaN																	0				ovary(1)	1						c.(394-396)GAA>AAA		carcinoembryonic antigen-related cell adhesion							187.0	164.0	172.0					19																	43097723		2203	4300	6503	SO:0001583	missense	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43097723C>T	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.394G>A	19.37:g.43097723C>T	ENSP00000244336:p.Glu132Lys					uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	p.E132K	NM_001816	NP_001807	P31997	CEAM8_HUMAN			2	496	-		Prostate(69;0.00899)	132			Ig-like V-type.		O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	c.394G>A	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	c	11.17	1.561072	0.27827	.	.	ENSG00000124469	ENST00000244336	T	0.65549	-0.16	1.87	0.815	0.18763	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61974	0.2390	M	0.78456	2.415	0.09310	N	1	B	0.32573	0.376	B	0.41440	0.357	T	0.53143	-0.8480	9	0.25751	T	0.34	.	4.0748	0.09899	0.0:0.7813:0.0:0.2187	.	132	P31997	CEAM8_HUMAN	K	132	ENSP00000244336:E132K	ENSP00000244336:E132K	E	-	1	0	CEACAM8	47789563	0.000000	0.05858	0.001000	0.08648	0.062000	0.15995	-0.183000	0.09712	0.330000	0.23485	0.313000	0.20887	GAA		0.483	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1				39	80	0	0	0	0.00623	0	39	80		
CEACAM8	1088	broad.mit.edu	37	19	43097727	43097727	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:43097727C>A	ENST00000244336.5	-	2	491	c.390G>T	c.(388-390)atG>atT	p.M130I	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	130	Ig-like V-type.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CTTCTTCACTCATAAGATTTA	0.473																																						uc002oud.2		NaN																	0				ovary(1)	1						c.(388-390)ATG>ATT		carcinoembryonic antigen-related cell adhesion							189.0	168.0	175.0					19																	43097727		2203	4300	6503	SO:0001583	missense	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43097727C>A	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.390G>T	19.37:g.43097727C>A	ENSP00000244336:p.Met130Ile					uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	p.M130I	NM_001816	NP_001807	P31997	CEAM8_HUMAN			2	492	-		Prostate(69;0.00899)	130			Ig-like V-type.		O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	c.390G>T	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	c	3.603	-0.081141	0.07141	.	.	ENSG00000124469	ENST00000244336	T	0.64438	-0.1	1.87	-3.74	0.04385	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.34048	0.0884	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07121	-1.0789	9	0.37606	T	0.19	.	4.8849	0.13697	0.0:0.4063:0.353:0.2407	.	130	P31997	CEAM8_HUMAN	I	130	ENSP00000244336:M130I	ENSP00000244336:M130I	M	-	3	0	CEACAM8	47789567	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-1.534000	0.02212	-1.856000	0.01161	0.313000	0.20887	ATG		0.473	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1				43	85	1	0	1.22674e-20	0.00874	1.31475e-20	43	85		
ZNF224	7767	broad.mit.edu	37	19	44612276	44612276	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:44612276G>A	ENST00000336976.6	+	6	2217	c.1963G>A	c.(1963-1965)Gag>Aag	p.E655K	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	655					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				ATACAAATGTGAGGACTGTGG	0.433																																						uc002oyh.1		NaN																	0				ovary(2)	2						c.(1963-1965)GAG>AAG		zinc finger protein 224							99.0	94.0	96.0					19																	44612276		2203	4300	6503	SO:0001583	missense	7767				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:44612276G>A	AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.1963G>A	19.37:g.44612276G>A	ENSP00000337368:p.Glu655Lys					uc002oyi.2_RNA	p.E655K	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN			6	2265	+		Prostate(69;0.0435)	655			C2H2-type 17.		A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	ENST00000336976.6	37	c.1963G>A	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	g	5.560	0.288223	0.10513	.	.	ENSG00000186019	ENST00000336976	T	0.50813	0.73	3.21	1.04	0.20106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34571	0.0902	N	0.11927	0.2	0.09310	N	1	D	0.56968	0.978	P	0.57911	0.829	T	0.20009	-1.0288	9	0.13470	T	0.59	.	2.7276	0.05218	0.2479:0.0:0.4018:0.3503	.	655	Q9NZL3	ZN224_HUMAN	K	655	ENSP00000337368:E655K	ENSP00000337368:E655K	E	+	1	0	ZNF224	49304116	0.000000	0.05858	0.011000	0.14972	0.178000	0.23041	-0.225000	0.09151	0.675000	0.31264	0.591000	0.81541	GAG		0.433	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1		NM_013398		36	59	0	0	0	0.013114	0	36	59		
PVRL2	5819	broad.mit.edu	37	19	45375333	45375333	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:45375333C>T	ENST00000252483.5	+	3	702	c.702C>T	c.(700-702)gtC>gtT	p.V234V	PVRL2_ENST00000252485.4_Silent_p.V234V	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	234	Ig-like C2-type 1.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CAGATGGTGTCACGGTCACCT	0.607																																						uc002ozw.1		NaN																	0					0						c.(700-702)GTC>GTT		poliovirus receptor related 2 isoform delta							150.0	113.0	126.0					19																	45375333		2203	4300	6503	SO:0001819	synonymous_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45375333C>T	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.702C>T	19.37:g.45375333C>T						PVRL2_uc002ozv.2_Silent_p.V234V	p.V234V	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	3	1092	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	234			Ig-like C2-type 1.|Extracellular (Potential).		A8K5L5|O75455|Q6IBI6|Q96J29	Silent	SNP	ENST00000252483.5	37	c.702C>T	CCDS42576.1																																																																																				0.607	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1		NM_002856		43	49	0	0	0	0.01441	0	43	49		
PVRL2	5819	broad.mit.edu	37	19	45375398	45375398	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:45375398C>G	ENST00000252483.5	+	3	767	c.767C>G	c.(766-768)tCt>tGt	p.S256C	PVRL2_ENST00000252485.4_Missense_Mutation_p.S256C	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	256	Ig-like C2-type 1.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GTGACCCTCTCTGTACGCTGT	0.547																																						uc002ozw.1		NaN																	0					0						c.(766-768)TCT>TGT		poliovirus receptor related 2 isoform delta							165.0	121.0	136.0					19																	45375398		2203	4300	6503	SO:0001583	missense	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45375398C>G	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.767C>G	19.37:g.45375398C>G	ENSP00000252483:p.Ser256Cys					PVRL2_uc002ozv.2_Missense_Mutation_p.S256C	p.S256C	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	3	1157	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	256			Ig-like C2-type 1.|Extracellular (Potential).		A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	ENST00000252483.5	37	c.767C>G	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042622	0.55003	.	.	ENSG00000130202	ENST00000252483;ENST00000252485	D;T	0.84298	-1.83;-0.17	4.25	4.25	0.50352	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.129859	0.34676	N	0.003777	D	0.90854	0.7127	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67382	0.94;0.951	D	0.91666	0.5346	10	0.72032	D	0.01	.	12.0078	0.53270	0.0:1.0:0.0:0.0	.	256;256	Q92692;Q92692-2	PVRL2_HUMAN;.	C	256	ENSP00000252483:S256C;ENSP00000252485:S256C	ENSP00000252483:S256C	S	+	2	0	PVRL2	50067238	0.989000	0.36119	0.874000	0.34290	0.801000	0.45260	3.871000	0.56077	2.190000	0.69967	0.561000	0.74099	TCT		0.547	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1		NM_002856		65	67	0	0	0	0.01441	0	65	67		
PPP1R13L	10848	broad.mit.edu	37	19	45899848	45899848	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:45899848G>A	ENST00000418234.2	-	4	745	c.667C>T	c.(667-669)Cta>Tta	p.L223L	PPP1R13L_ENST00000360957.5_Silent_p.L223L	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	223	Pro-rich.			L -> I (in Ref. 2; AAW51146). {ECO:0000305}.	apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCGGAGCCTAGCAGGGAGCTC	0.756																																					Pancreas(61;1447 1663 31419 50578)	uc002pbn.2		NaN																	0				skin(1)	1						c.(667-669)CTA>TTA		protein phosphatase 1, regulatory subunit 13							5.0	6.0	6.0					19																	45899848		1687	3632	5319	SO:0001819	synonymous_variant	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45899848G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.667C>T	19.37:g.45899848G>A						PPP1R13L_uc002pbo.2_Silent_p.L223L|PPP1R13L_uc002pbp.2_Silent_p.L223L	p.L223L	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	4	744	-		all_neural(266;0.224)|Ovarian(192;0.231)	223	L -> I (in Ref. 3; AAW51146).		Pro-rich.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	ENST00000418234.2	37	c.667C>T	CCDS33050.1																																																																																				0.756	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1		NM_006663		13	9	0	0	0	0.00245	0	13	9		
SYMPK	8189	broad.mit.edu	37	19	46328437	46328437	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:46328437C>T	ENST00000245934.7	-	18	2726	c.2482G>A	c.(2482-2484)Gag>Aag	p.E828K	SYMPK_ENST00000598155.1_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	828					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ACCGGCTGCTCAATGACCCTC	0.652																																						uc002pdn.2		NaN																	0				ovary(1)	1						c.(2482-2484)GAG>AAG		symplekin							104.0	82.0	89.0					19																	46328437		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46328437C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2482G>A	19.37:g.46328437C>T	ENSP00000245934:p.Glu828Lys					SYMPK_uc002pdo.1_Missense_Mutation_p.E828K|SYMPK_uc002pdp.1_Missense_Mutation_p.E828K	p.E828K	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	18	2727	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	828					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.2482G>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	35	5.436818	0.96168	.	.	ENSG00000125755	ENST00000245934	T	0.66280	-0.2	4.58	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79482	0.4453	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.983	D;P	0.76071	0.987;0.874	T	0.82822	-0.0267	10	0.72032	D	0.01	.	15.3057	0.73990	0.0:1.0:0.0:0.0	.	843;828	Q4LE61;Q92797	.;SYMPK_HUMAN	K	828	ENSP00000245934:E828K	ENSP00000245934:E828K	E	-	1	0	SYMPK	51020277	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	7.232000	0.78116	2.285000	0.76669	0.650000	0.86243	GAG		0.652	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1		NM_004819		56	68	0	0	0	0.01441	0	56	68		
ZC3H4	23211	broad.mit.edu	37	19	47597706	47597706	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:47597706C>T	ENST00000253048.5	-	3	358	c.321G>A	c.(319-321)cgG>cgA	p.R107R	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	107							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCTCTTTCTTCCGTTTCCGCT	0.537																																						uc002pga.3		NaN																	0				skin(4)|ovary(2)	6						c.(319-321)CGG>CGA		zinc finger CCCH-type containing 4							334.0	347.0	343.0					19																	47597706		1936	4128	6064	SO:0001819	synonymous_variant	23211						nucleic acid binding|zinc ion binding	g.chr19:47597706C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.321G>A	19.37:g.47597706C>T						ZC3H4_uc002pgb.1_RNA	p.R107R	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	3	359	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	107			Potential.		Q9Y420	Silent	SNP	ENST00000253048.5	37	c.321G>A	CCDS42582.1																																																																																				0.537	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1				124	212	0	0	0	0.01441	0	124	212		
HRC	3270	broad.mit.edu	37	19	49657096	49657096	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:49657096C>G	ENST00000252825.4	-	1	1585	c.1399G>C	c.(1399-1401)Gga>Cga	p.G467R	HRC_ENST00000595625.1_Missense_Mutation_p.G467R	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	467					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		ACTGTGTGTCCTGGGGGGTGA	0.547																																					Melanoma(37;75 1097 24567 25669 30645)	uc002pmv.2		NaN																	0				ovary(1)	1						c.(1399-1401)GGA>CGA		histidine rich calcium binding protein							157.0	138.0	144.0					19																	49657096		2203	4300	6503	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657096C>G		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1399G>C	19.37:g.49657096C>G	ENSP00000252825:p.Gly467Arg						p.G467R	NM_002152	NP_002143	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1586	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	467					Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.1399G>C	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	C	1.956	-0.439967	0.04636	.	.	ENSG00000130528	ENST00000252825;ENST00000391863;ENST00000434964	T	0.39787	1.06	2.84	0.505	0.16953	.	.	.	.	.	T	0.27798	0.0684	L	0.34521	1.04	0.09310	N	1	P	0.48162	0.906	B	0.44224	0.444	T	0.12066	-1.0562	9	0.19590	T	0.45	-0.3066	3.7417	0.08533	0.0:0.5626:0.2775:0.16	.	467	P23327	SRCH_HUMAN	R	467;166;437	ENSP00000252825:G467R	ENSP00000252825:G467R	G	-	1	0	HRC	54348908	0.001000	0.12720	0.003000	0.11579	0.070000	0.16714	0.768000	0.26590	0.073000	0.16731	0.462000	0.41574	GGA		0.547	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1		NM_002152		33	58	0	0	0	0.00874	0	33	58		
TEAD2	8463	broad.mit.edu	37	19	49852054	49852054	+	Missense_Mutation	SNP	G	G	C	rs201482323		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:49852054G>C	ENST00000311227.2	-	8	731	c.641C>G	c.(640-642)tCg>tGg	p.S214W	TEAD2_ENST00000598397.1_5'UTR|TEAD2_ENST00000593945.1_Missense_Mutation_p.S218W|TEAD2_ENST00000598810.1_Missense_Mutation_p.S218W|TEAD2_ENST00000539846.1_Missense_Mutation_p.S86W|TEAD2_ENST00000377214.4_Missense_Mutation_p.S217W|TEAD2_ENST00000601519.1_Missense_Mutation_p.S217W	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	214	Pro-rich.|Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GGCTGGGGGCGATGGGGTAGG	0.572																																						uc002pnj.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(640-642)TCG>TGG		TEA domain family member 2							16.0	19.0	18.0					19																	49852054		2182	4261	6443	SO:0001583	missense	8463				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:49852054G>C	X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.641C>G	19.37:g.49852054G>C	ENSP00000310701:p.Ser214Trp					TEAD2_uc002png.2_Missense_Mutation_p.S217W|TEAD2_uc002pnh.2_Missense_Mutation_p.S218W|TEAD2_uc002pni.2_Missense_Mutation_p.S217W|TEAD2_uc010yao.1_Missense_Mutation_p.S86W|TEAD2_uc010emw.2_Missense_Mutation_p.S217W	p.S214W	NM_003598	NP_003589	Q15562	TEAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)	8	732	-		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)	214			Transcriptional activation (Potential).|Pro-rich.		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	ENST00000311227.2	37	c.641C>G	CCDS12761.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805456	0.50315	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.32023	1.47;1.47;1.47	5.73	5.73	0.89815	.	0.000000	0.56097	D	0.000035	T	0.45196	0.1330	L	0.36672	1.1	0.80722	D	1	B;D;B	0.76494	0.012;0.999;0.012	B;D;B	0.79784	0.009;0.993;0.009	T	0.31668	-0.9935	10	0.87932	D	0	-13.5768	13.379	0.60757	0.0:0.1578:0.8422:0.0	.	86;214;217	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	W	214;217;86	ENSP00000310701:S214W;ENSP00000366419:S217W;ENSP00000437928:S86W	ENSP00000310701:S214W	S	-	2	0	TEAD2	54543866	0.800000	0.28916	0.977000	0.42913	0.472000	0.32918	3.816000	0.55658	2.882000	0.98803	0.655000	0.94253	TCG		0.572	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465465.1		NM_003598		11	7	0	0	0	0.010729	0	11	7		
SPIB	6689	broad.mit.edu	37	19	50926888	50926888	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:50926888G>A	ENST00000595883.1	+	5	391	c.366G>A	c.(364-366)ccG>ccA	p.P122P	CTD-2545M3.6_ENST00000599632.1_Missense_Mutation_p.V257I|SPIB_ENST00000596074.1_Missense_Mutation_p.V51I|SPIB_ENST00000597855.1_Intron|SPIB_ENST00000439922.2_Silent_p.P31P|SPIB_ENST00000270632.7_Silent_p.P122P	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	122					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CATATGCCCCGTACCCCAGCC	0.647																																						uc002psd.2		NaN																	0				lung(1)|kidney(1)	2						c.(364-366)CCG>CCA		Spi-B transcription factor (Spi-1/PU.1 related)							61.0	52.0	55.0					19																	50926888		2203	4300	6503	SO:0001819	synonymous_variant	6689				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	g.chr19:50926888G>A		CCDS33080.1, CCDS58674.1, CCDS59412.1	19q13.3-q13.4	2008-07-22				ENSG00000269404			11242	protein-coding gene	gene with protein product		606802				1406622	Standard	NM_003121		Approved	SPI-B	uc002psd.3	Q01892		ENST00000595883.1:c.366G>A	19.37:g.50926888G>A						SPIB_uc002pse.2_Silent_p.P122P|SPIB_uc010ycc.1_Silent_p.P31P	p.P122P	NM_003121	NP_003112	Q01892	SPIB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	5	391	+		all_neural(266;0.131)	122					A8K9C9|B4DUG6|Q15359	Silent	SNP	ENST00000595883.1	37	c.366G>A	CCDS33080.1																																																																																				0.647	SPIB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464744.1		NM_003121		22	29	0	0	0	0.009535	0	22	29		
KLK8	11202	broad.mit.edu	37	19	51503318	51503318	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:51503318C>T	ENST00000600767.1	-	5	916	c.427G>A	c.(427-429)Gat>Aat	p.D143N	KLK8_ENST00000320838.5_Intron|KLK8_ENST00000593490.1_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000391806.2_Missense_Mutation_p.D188N|KLK8_ENST00000291726.7_Missense_Mutation_p.D143N|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000598195.1_5'Flank			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	143	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GTGCAATGATCTGCCAGGCTG	0.587																																						uc002pur.1		NaN																	0				central_nervous_system(1)	1						c.(427-429)GAT>AAT		kallikrein 8 isoform 1 preproprotein							85.0	78.0	80.0					19																	51503318		2203	4300	6503	SO:0001583	missense	11202				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51503318C>T	AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6369	protein-coding gene	gene with protein product		605644	"""kallikrein 8 (neuropsin/ovasin)"""	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.427G>A	19.37:g.51503318C>T	ENSP00000472016:p.Asp143Asn					KLK8_uc002puq.1_Missense_Mutation_p.D188N|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Missense_Mutation_p.D143N|KLK9_uc002puv.1_Intron	p.D143N	NM_007196	NP_009127	O60259	KLK8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)	4	606	-		all_neural(266;0.026)	143			Peptidase S1.		Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Missense_Mutation	SNP	ENST00000600767.1	37	c.427G>A	CCDS12813.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.571722	0.28003	.	.	ENSG00000129455	ENST00000391806;ENST00000291726	D;D	0.89196	-2.48;-2.48	5.02	-1.09	0.09904	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.682649	0.13431	N	0.388432	T	0.77738	0.4175	L	0.31371	0.925	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.11329	0.004;0.006	T	0.63550	-0.6612	10	0.42905	T	0.14	.	2.8722	0.05620	0.3689:0.3434:0.0:0.2877	.	143;188	O60259;O60259-2	KLK8_HUMAN;.	N	188;143	ENSP00000375682:D188N;ENSP00000291726:D143N	ENSP00000291726:D143N	D	-	1	0	KLK8	56195130	0.000000	0.05858	0.000000	0.03702	0.361000	0.29550	-1.936000	0.01549	0.049000	0.15920	0.655000	0.94253	GAT		0.587	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465032.2		NM_007196		16	23	0	0	0	0.004007	0	16	23		
ZNF600	162966	broad.mit.edu	37	19	53269283	53269283	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:53269283G>A	ENST00000338230.3	-	3	1993	c.1726C>T	c.(1726-1728)Cat>Tat	p.H576Y		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	576					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)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TCTCCAGTATGAAGTCTACGA	0.438																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	uc002qab.3		NaN																	0					0						c.(1726-1728)CAT>TAT		zinc finger protein 600							204.0	197.0	200.0					19																	53269283		2203	4300	6503	SO:0001583	missense	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53269283G>A	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1726C>T	19.37:g.53269283G>A	ENSP00000344791:p.His576Tyr						p.H576Y	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	2012	-			576			C2H2-type 15.		Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	c.1726C>T	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	15.88	2.963982	0.53507	.	.	ENSG00000189190	ENST00000338230	T	0.67523	-0.27	1.5	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83399	0.5246	M	0.93150	3.385	0.31460	N	0.66966	P	0.51933	0.949	D	0.66351	0.943	T	0.82717	-0.0319	9	0.87932	D	0	.	9.9764	0.41786	0.0:0.0:1.0:0.0	.	576	Q6ZNG1	ZN600_HUMAN	Y	576	ENSP00000344791:H576Y	ENSP00000344791:H576Y	H	-	1	0	ZNF600	57961095	0.987000	0.35691	0.173000	0.22940	0.063000	0.16089	4.074000	0.57577	0.835000	0.34877	0.184000	0.17185	CAT		0.438	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1		NM_198457		113	117	0	0	0	0.01441	0	113	117		
ZNF320	162967	broad.mit.edu	37	19	53384365	53384365	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:53384365G>A	ENST00000595635.1	-	8	1515	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	ZNF320_ENST00000391781.2_Silent_p.F338F|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		ATTTGCGACTGAAAACTTTGT	0.423																																						uc002qag.2		NaN																	0					0						c.(1012-1014)TTC>TTT		zinc finger protein 320							97.0	91.0	93.0					19																	53384365		2203	4300	6503	SO:0001819	synonymous_variant	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53384365G>A	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1014C>T	19.37:g.53384365G>A						ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Silent_p.F284F|ZNF320_uc002qai.2_Silent_p.F338F	p.F338F	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	4	1205	-			338			C2H2-type 7.		Q8NDR6	Silent	SNP	ENST00000595635.1	37	c.1014C>T	CCDS33095.1																																																																																				0.423	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1		NM_207333		36	36	0	0	0	0.005524	0	36	36		
NLRP12	91662	broad.mit.edu	37	19	54313767	54313767	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:54313767C>T	ENST00000324134.6	-	3	1314	c.1146G>A	c.(1144-1146)gaG>gaA	p.E382E	NLRP12_ENST00000391773.1_Silent_p.E382E|NLRP12_ENST00000351894.4_Silent_p.E382E|NLRP12_ENST00000391772.1_Silent_p.E382E|NLRP12_ENST00000391775.3_Silent_p.E382E|NLRP12_ENST00000354278.3_Silent_p.E382E|NLRP12_ENST00000535162.1_Silent_p.E382E|NLRP12_ENST00000345770.5_Silent_p.E382E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	382	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGCCCGCCTGCTCTGCATTGT	0.562																																						uc002qch.3		NaN																	0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(1144-1146)GAG>GAA		NLR family, pyrin domain containing 12 isoform							196.0	195.0	195.0					19																	54313767		2203	4300	6503	SO:0001819	synonymous_variant	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313767C>T	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1146G>A	19.37:g.54313767C>T						NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Silent_p.E382E|NLRP12_uc002qcj.3_Silent_p.E382E|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.E382E	p.E382E	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1366	-	Ovarian(34;0.19)		382			NACHT.		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	ENST00000324134.6	37	c.1146G>A	CCDS12864.1																																																																																				0.562	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1		NM_144687		104	184	0	0	0	0.01441	0	104	184		
KIR3DL1	3811	broad.mit.edu	37	19	55267599	55267599	+	Intron	SNP	A	A	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:55267599A>C	ENST00000538269.1	+	1	61				KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TGGCCACATGAGGGTGAGTCC	0.532																																						uc010yfi.1		NaN																	0					0						c.(67-69)GAG>GCG		killer-cell Ig-like receptor																																				SO:0001627	intron_variant	768329							g.chr19:55267599A>C	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.34+31564A>C	19.37:g.55267599A>C						KIR2DS4_uc010yfj.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron	p.E23A	NM_001015070	NP_001015070				GBM - Glioblastoma multiforme(193;0.0192)	2	69	+								O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.68A>C																																																																																					0.532	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_013289		15	129	0	0	0	0.00278	0	15	129		
NLRP2	55655	broad.mit.edu	37	19	55494122	55494122	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:55494122C>G	ENST00000543010.1	+	6	1199	c.1056C>G	c.(1054-1056)atC>atG	p.I352M	NLRP2_ENST00000427260.2_Missense_Mutation_p.I329M|NLRP2_ENST00000391721.4_Missense_Mutation_p.I328M|NLRP2_ENST00000537859.1_Missense_Mutation_p.I330M|NLRP2_ENST00000538819.1_Missense_Mutation_p.I328M|NLRP2_ENST00000339757.7_Missense_Mutation_p.I330M|NLRP2_ENST00000448584.2_Missense_Mutation_p.I352M|NLRP2_ENST00000263437.6_Missense_Mutation_p.I349M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	352	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGGAGCCGATCTACATAAGGG	0.607																																						uc002qij.2		NaN																	0				ovary(1)|skin(1)	2						c.(1054-1056)ATC>ATG		NLR family, pyrin domain containing 2							34.0	33.0	33.0					19																	55494122		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494122C>G	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1056C>G	19.37:g.55494122C>G	ENSP00000445135:p.Ile352Met					NLRP2_uc010yfp.1_Missense_Mutation_p.I329M|NLRP2_uc010esn.2_Missense_Mutation_p.I328M|NLRP2_uc010eso.2_Missense_Mutation_p.I349M|NLRP2_uc010esp.2_Missense_Mutation_p.I330M	p.I352M	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1142	+			352			NACHT.		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.1056C>G	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	9.570	1.120780	0.20877	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	1.4	-1.09	0.09904	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.77370	0.4120	L	0.54323	1.7	0.09310	N	1	D;P;P;P;P	0.54397	0.966;0.925;0.939;0.925;0.939	P;P;P;P;P	0.59546	0.842;0.72;0.859;0.63;0.859	T	0.64041	-0.6500	9	0.33141	T	0.24	.	2.7261	0.05214	0.0:0.4784:0.3073:0.2143	.	329;330;349;328;352	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	M	352;328;330;352;330;329;328;349	ENSP00000445135:I352M;ENSP00000375601:I328M;ENSP00000344074:I330M;ENSP00000409370:I352M;ENSP00000440601:I330M;ENSP00000402474:I329M;ENSP00000441133:I328M;ENSP00000263437:I349M	ENSP00000263437:I349M	I	+	3	3	NLRP2	60185934	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.779000	0.04659	-0.210000	0.10140	0.485000	0.47835	ATC		0.607	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1		NM_017852		10	13	0	0	0	0.010729	0	10	13		
DNAAF3	352909	broad.mit.edu	37	19	55673126	55673126	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:55673126G>A	ENST00000524407.2	-	6	581	c.548C>T	c.(547-549)gCg>gTg	p.A183V	DNAAF3_ENST00000391720.4_Missense_Mutation_p.A230V|DNAAF3_ENST00000455045.1_Missense_Mutation_p.A129V|DNAAF3_ENST00000587789.2_5'Flank|CTD-2587H24.4_ENST00000587871.1_5'Flank|DNAAF3_ENST00000527223.2_Missense_Mutation_p.A251V|CTD-2587H24.5_ENST00000591665.1_RNA			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	183					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											CATGGGGAACGCCTGGGGCCC	0.711																																						uc002qji.1		NaN																	0					0						c.(547-549)GCG>GTG		RecName: Full=UPF0470 protein C19orf51;							4.0	6.0	5.0					19																	55673126		1826	3916	5742	SO:0001583	missense	352909							g.chr19:55673126G>A	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.548C>T	19.37:g.55673126G>A	ENSP00000432046:p.Ala183Val					C19orf51_uc002qjh.1_5'UTR|C19orf51_uc002qjj.1_Missense_Mutation_p.A230V|C19orf51_uc002qjk.1_Missense_Mutation_p.A129V|C19orf51_uc002qjl.1_Missense_Mutation_p.A251V	p.A183V			Q8N9W5	CS051_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	6	582	-			183					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	c.548C>T	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284461	0.23392	.	.	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720	T;T	0.16073	2.37;2.37	4.69	3.64	0.41730	.	0.418683	0.23851	N	0.043941	T	0.05593	0.0147	N	0.05574	-0.02	0.21719	N	0.999579	P;B;B;B	0.40144	0.704;0.341;0.163;0.108	B;B;B;B	0.27796	0.083;0.048;0.049;0.028	T	0.32161	-0.9917	10	0.13108	T	0.6	-5.9999	8.0626	0.30642	0.1963:0.0:0.8037:0.0	.	251;129;204;183	E9PAX5;E3W9A1;Q8N9W5-3;Q8N9W5	.;.;.;CS051_HUMAN	V	251;129;230	ENSP00000394343:A129V;ENSP00000375600:A230V	ENSP00000301249:A251V	A	-	2	0	C19orf51	60364938	0.992000	0.36948	0.859000	0.33776	0.077000	0.17291	1.476000	0.35420	1.078000	0.41014	0.555000	0.69702	GCG		0.711	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5		NM_178837		4	1	0	0	0	0.000602	0	4	1		
LAPTM4A	9741	broad.mit.edu	37	2	20240714	20240714	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:20240714A>T	ENST00000175091.4	-	2	677	c.170T>A	c.(169-171)aTg>aAg	p.M57K		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	57					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACAGCTGGCATGGAGTTTGG	0.373																																					Ovarian(90;1240 1386 7711 14384 46863)	uc002rdm.2		NaN																	0				ovary(1)	1						c.(169-171)ATG>AAG		lysosomal protein transmembrane 4 alpha							144.0	133.0	137.0					2																	20240714		2203	4300	6503	SO:0001583	missense	9741				transport	endomembrane system|Golgi apparatus|integral to membrane		g.chr2:20240714A>T	D14696	CCDS1696.1	2p24.1	2008-08-11	2008-08-11		ENSG00000068697	ENSG00000068697			6924	protein-coding gene	gene with protein product			"""lysosomal-associated protein transmembrane 4 alpha"""	MBNT		8621662, 7788527	Standard	NM_014713		Approved	HUMORF13, KIAA0108, Mtrp, LAPTM4	uc002rdm.3	Q15012	OTTHUMG00000090750	ENST00000175091.4:c.170T>A	2.37:g.20240714A>T	ENSP00000175091:p.Met57Lys					LAPTM4A_uc002rdn.2_Missense_Mutation_p.M15K|LAPTM4A_uc010yjx.1_Missense_Mutation_p.M57K	p.M57K	NM_014713	NP_055528	Q15012	LAP4A_HUMAN			2	678	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		57					Q6UW22	Missense_Mutation	SNP	ENST00000175091.4	37	c.170T>A	CCDS1696.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.051852	0.55218	.	.	ENSG00000068697	ENST00000175091	T	0.44083	0.93	5.99	5.99	0.97316	.	0.208574	0.49916	D	0.000125	T	0.26195	0.0639	N	0.08118	0	0.48040	D	0.999575	B;B	0.15473	0.011;0.013	B;B	0.19666	0.007;0.026	T	0.08066	-1.0740	10	0.33940	T	0.23	-2.2124	14.2352	0.65922	1.0:0.0:0.0:0.0	.	57;57	B4E2U6;Q15012	.;LAP4A_HUMAN	K	57	ENSP00000175091:M57K	ENSP00000175091:M57K	M	-	2	0	LAPTM4A	20104195	1.000000	0.71417	0.984000	0.44739	0.994000	0.84299	8.916000	0.92745	2.291000	0.77112	0.533000	0.62120	ATG		0.373	LAPTM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207494.1		NM_014713		8	134	0	0	0	0.008291	0	8	134		
ADCY3	109	broad.mit.edu	37	2	25044461	25044461	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:25044461C>T	ENST00000260600.5	-	19	3903	c.3052G>A	c.(3052-3054)Gac>Aac	p.D1018N	CENPO_ENST00000473706.1_3'UTR|CENPO_ENST00000380834.2_3'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.D605N	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1018					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGCGCGAAGTCGGCCAGGTCA	0.612																																						uc002rfs.3		NaN																	0				breast(3)|ovary(1)	4						c.(3052-3054)GAC>AAC		adenylate cyclase 3							162.0	150.0	154.0					2																	25044461		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25044461C>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.3052G>A	2.37:g.25044461C>T	ENSP00000260600:p.Asp1018Asn					ADCY3_uc002rfr.3_Missense_Mutation_p.D605N|ADCY3_uc010ykm.1_Missense_Mutation_p.D1019N	p.D1018N	NM_004036	NP_004027	O60266	ADCY3_HUMAN			19	3251	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		1018			Cytoplasmic (Potential).		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.3052G>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	36	5.961365	0.97151	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879	T;T	0.81415	-1.49;-1.49	5.91	5.91	0.95273	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.86818	0.6024	L	0.40543	1.245	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.908	D;D;B	0.77004	0.989;0.989;0.318	D	0.87173	0.2222	10	0.87932	D	0	.	19.8914	0.96931	0.0:1.0:0.0:0.0	.	1019;1018;605	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	N	1018;605;993	ENSP00000260600:D1018N;ENSP00000384484:D605N	ENSP00000260600:D1018N	D	-	1	0	ADCY3	24897965	1.000000	0.71417	0.994000	0.49952	0.918000	0.54935	7.806000	0.86020	2.813000	0.96785	0.655000	0.94253	GAC		0.612	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2				60	192	0	0	0	0.01441	0	60	192		
CAD	790	broad.mit.edu	37	2	27465812	27465812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:27465812C>T	ENST00000403525.1	+	41	6406	c.6262C>T	c.(6262-6264)Cga>Tga	p.R2088*	CAD_ENST00000264705.4_Nonsense_Mutation_p.R2151*			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGAAGGAACGATTTGGCTC	0.552																																						uc002rji.2		NaN																	0				ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(6451-6453)CGA>TGA		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						74.0	73.0	73.0					2																	27465812		2203	4300	6503	SO:0001587	stop_gained	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27465812C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.6262C>T	2.37:g.27465812C>T	ENSP00000384510:p.Arg2088*					CAD_uc010eyw.2_Nonsense_Mutation_p.R2088*	p.R2151*	NM_004341	NP_004332	P27708	PYR1_HUMAN			42	6613	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2151			ATCase (Aspartate transcarbamylase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Nonsense_Mutation	SNP	ENST00000403525.1	37	c.6451C>T		.	.	.	.	.	.	.	.	.	.	C	47	13.800406	0.99763	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.594	12.1176	0.53873	0.1716:0.8284:0.0:0.0	.	.	.	.	X	2151;2088	.	ENSP00000264705:R2151X	R	+	1	2	CAD	27319316	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	4.118000	0.57884	2.335000	0.79485	0.511000	0.50034	CGA		0.552	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1				14	42	0	0	0	0.010504	0	14	42		
GPN1	11321	broad.mit.edu	37	2	27858051	27858051	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:27858051G>A	ENST00000610189.1	+	7	481	c.474G>A	c.(472-474)tcG>tcA	p.S158S	RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000407583.3_Silent_p.S146S|GPN1_ENST00000424214.1_Silent_p.S79S|GPN1_ENST00000264718.3_Silent_p.S172S|GPN1_ENST00000515877.1_Silent_p.S79S|GPN1_ENST00000503738.1_Silent_p.S63S|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000458167.2_Silent_p.S63S	NM_007266.3	NP_009197.2			GPN-loop GTPase 1											endometrium(1)|large_intestine(1)|lung(12)	14						TGGACACATCGAGAAGTACCA	0.443																																						uc010ymc.1		NaN																	0					0						c.(514-516)TCG>TCA		GPN-loop GTPase 1 isoform a							229.0	205.0	213.0					2																	27858051		2203	4300	6503	SO:0001819	synonymous_variant	11321					cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:27858051G>A	AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"""GPN-loop GTPases"""	17030	protein-coding gene	gene with protein product	"""RNA polymerase II associated protein 4"""	611479	"""XPA binding protein 1"", ""XPA binding protein 1, GTPase"""	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.474G>A	2.37:g.27858051G>A						ZNF512_uc010yly.1_RNA|GPN1_uc010ezf.2_Silent_p.S146S|GPN1_uc010yma.1_Silent_p.S79S|GPN1_uc010ymb.1_Silent_p.S63S|GPN1_uc010ymd.1_Silent_p.S53S|GPN1_uc010yme.1_Silent_p.S172S|GPN1_uc010ezg.1_Silent_p.S53S	p.S172S	NM_007266	NP_009197	Q9HCN4	GPN1_HUMAN			7	537	+			158						Silent	SNP	ENST00000610189.1	37	c.516G>A																																																																																					0.443	GPN1-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473126.1		NM_007266		65	44	0	0	0	0.01441	0	65	44		
CYP1B1	1545	broad.mit.edu	37	2	38298398	38298398	+	Missense_Mutation	SNP	C	C	A	rs72480441		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:38298398C>A	ENST00000260630.3	-	3	1500	c.1099G>T	c.(1099-1101)Gac>Tac	p.D367Y	CYP1B1_ENST00000407341.1_Missense_Mutation_p.D367Y|CYP1B1_ENST00000494864.1_5'UTR	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	367					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	GGCAGACGGTCCCTCCCCACG	0.517																																						uc002rqo.2		NaN																	0				ovary(1)|central_nervous_system(1)	2	GRCh37	CD076779	CYP1B1	D		c.(1099-1101)GAC>TAC		cytochrome P450, family 1, subfamily B,	Estrone(DB00655)						45.0	36.0	39.0					2																	38298398		2184	4268	6452	SO:0001583	missense	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38298398C>A	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"""Cytochrome P450s"""	2597	protein-coding gene	gene with protein product		601771	"""cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"""	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.1099G>T	2.37:g.38298398C>A	ENSP00000260630:p.Asp367Tyr						p.D367Y	NM_000104	NP_000095	Q16678	CP1B1_HUMAN			4	1502	-		all_hematologic(82;0.21)	367					Q5TZW8|Q93089|Q9H316	Missense_Mutation	SNP	ENST00000260630.3	37	c.1099G>T	CCDS1793.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583527	0.46006	.	.	ENSG00000138061	ENST00000260630;ENST00000407341	T;T	0.81247	-1.47;-1.47	5.65	1.82	0.25136	.	0.957989	0.08814	N	0.889836	D	0.84502	0.5486	M	0.81802	2.56	0.09310	N	1	P	0.36048	0.534	P	0.46208	0.507	T	0.73646	-0.3917	10	0.87932	D	0	.	6.5645	0.22505	0.0:0.6453:0.1302:0.2245	.	367	Q53TK1	.	Y	367	ENSP00000260630:D367Y;ENSP00000384972:D367Y	ENSP00000260630:D367Y	D	-	1	0	CYP1B1	38151902	0.000000	0.05858	0.012000	0.15200	0.901000	0.52897	0.511000	0.22739	0.053000	0.16036	0.655000	0.94253	GAC		0.517	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3		NM_000104		35	22	1	0	3.4345e-17	0.011902	3.64915e-17	35	22		
SPTBN1	6711	broad.mit.edu	37	2	54880916	54880916	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:54880916C>T	ENST00000356805.4	+	27	6029	c.5748C>T	c.(5746-5748)ttC>ttT	p.F1916F	SPTBN1_ENST00000333896.5_Silent_p.F1903F	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1916	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGTTCCGCTTCTTCAGCATGG	0.597																																						uc002rxu.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(5746-5748)TTC>TTT		spectrin, beta, non-erythrocytic 1 isoform 1							57.0	54.0	55.0					2																	54880916		2203	4300	6503	SO:0001819	synonymous_variant	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54880916C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.5748C>T	2.37:g.54880916C>T						SPTBN1_uc002rxx.2_Silent_p.F1903F|SPTBN1_uc002rxy.2_Silent_p.F61F	p.F1916F	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		27	5997	+			1916			Spectrin 16.|Interaction with ANK2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.5748C>T	CCDS33198.1																																																																																				0.597	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3				24	13	0	0	0	0.00632	0	24	13		
SPTBN1	6711	broad.mit.edu	37	2	54882218	54882218	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:54882218C>G	ENST00000356805.4	+	28	6115	c.5834C>G	c.(5833-5835)tCt>tGt	p.S1945C	SPTBN1_ENST00000333896.5_Missense_Mutation_p.S1932C	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1945	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GATGTATCATCTGTTGAACTC	0.348																																						uc002rxu.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(5833-5835)TCT>TGT		spectrin, beta, non-erythrocytic 1 isoform 1							76.0	70.0	72.0					2																	54882218		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54882218C>G		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.5834C>G	2.37:g.54882218C>G	ENSP00000349259:p.Ser1945Cys					SPTBN1_uc002rxx.2_Missense_Mutation_p.S1932C|SPTBN1_uc002rxy.2_Missense_Mutation_p.S90C|SPTBN1_uc010you.1_5'Flank	p.S1945C	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		28	6083	+			1945			Spectrin 16.|Interaction with ANK2.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.5834C>G	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800582	0.90538	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.54675	0.56;0.56	5.63	5.63	0.86233	.	0.111853	0.64402	D	0.000006	T	0.76622	0.4013	M	0.85945	2.785	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;D	0.69479	0.892;0.892;0.964	T	0.79155	-0.1920	10	0.72032	D	0.01	.	20.0572	0.97657	0.0:1.0:0.0:0.0	.	1945;1932;1945	Q01082-2;Q01082-3;Q01082	.;.;SPTB2_HUMAN	C	1945;1932	ENSP00000349259:S1945C;ENSP00000334156:S1932C	ENSP00000334156:S1932C	S	+	2	0	SPTBN1	54735722	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.729000	0.84864	2.826000	0.97356	0.655000	0.94253	TCT		0.348	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3				10	11	0	0	0	0.008291	0	10	11		
USP34	9736	broad.mit.edu	37	2	61575533	61575533	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:61575533C>G	ENST00000398571.2	-	15	1833	c.1757G>C	c.(1756-1758)aGt>aCt	p.S586T		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	586					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AGATCCATCACTATGCCCACT	0.483																																						uc002sbe.2		NaN																	0				ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(1756-1758)AGT>ACT		ubiquitin specific protease 34							127.0	128.0	127.0					2																	61575533		2089	4226	6315	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61575533C>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.1757G>C	2.37:g.61575533C>G	ENSP00000381577:p.Ser586Thr						p.S586T	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		15	1779	-			586					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.1757G>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330580	0.95733	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03920	3.76	6.07	6.07	0.98685	.	0.075276	0.85682	D	0.000000	T	0.12347	0.0300	N	0.22421	0.69	0.80722	D	1	P	0.49447	0.924	P	0.60682	0.878	T	0.04579	-1.0941	10	0.46703	T	0.11	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	586	Q70CQ2	UBP34_HUMAN	T	434;434;586	ENSP00000381577:S586T	ENSP00000263989:S434T	S	-	2	0	USP34	61429037	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.666000	0.83877	2.890000	0.99128	0.650000	0.86243	AGT		0.483	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4				3	196	0	0	0	0.009096	0	3	196		
ST3GAL5	8869	broad.mit.edu	37	2	86090557	86090557	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:86090557G>A	ENST00000377332.3	-	2	242	c.134C>T	c.(133-135)cCt>cTt	p.P45L	ST3GAL5_ENST00000484728.1_5'UTR|ST3GAL5_ENST00000525834.2_Missense_Mutation_p.P45L|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.P22L|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.P17L	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	45					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						TTGCAGGGAAGGCCTCGAGCA	0.498																																						uc002sqq.1		NaN																	0					0						c.(133-135)CCT>CTT		ST3 beta-galactoside alpha-2,3-sialyltransferase							127.0	116.0	120.0					2																	86090557		2203	4300	6503	SO:0001583	missense	8869				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity	g.chr2:86090557G>A	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.134C>T	2.37:g.86090557G>A	ENSP00000366549:p.Pro45Leu					ST3GAL5_uc010ysy.1_Missense_Mutation_p.P45L|ST3GAL5_uc010ysz.1_Missense_Mutation_p.P45L|ST3GAL5_uc010fgq.1_5'Flank|ST3GAL5_uc002sqp.1_Missense_Mutation_p.P22L	p.P45L	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN			2	263	-			45			Cytoplasmic (Potential).		B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Missense_Mutation	SNP	ENST00000377332.3	37	c.134C>T	CCDS1986.2	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245451	0.59103	.	.	ENSG00000115525	ENST00000393808;ENST00000393805;ENST00000377332;ENST00000455892;ENST00000525834	T;T;T;T;T	0.52983	1.35;1.38;1.27;0.85;0.64	5.53	5.53	0.82687	.	0.127761	0.36200	N	0.002737	T	0.53818	0.1820	N	0.19112	0.55	0.39147	D	0.962157	D;D;P;P	0.76494	0.999;0.999;0.723;0.717	D;D;B;P	0.70016	0.967;0.967;0.276;0.466	T	0.59968	-0.7354	10	0.72032	D	0.01	-9.1275	15.3293	0.74193	0.0:0.0:1.0:0.0	.	45;45;45;22	G3V199;B7Z9J0;Q9UNP4;Q9UNP4-3	.;.;SIAT9_HUMAN;.	L	22;17;45;17;45	ENSP00000377397:P22L;ENSP00000377394:P17L;ENSP00000366549:P45L;ENSP00000401375:P17L;ENSP00000433607:P45L	ENSP00000306247:P45L	P	-	2	0	ST3GAL5	85944068	0.989000	0.36119	0.624000	0.29186	0.882000	0.50991	2.017000	0.40981	2.755000	0.94549	0.650000	0.86243	CCT		0.498	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1		NM_003896		15	52	0	0	0	0.004007	0	15	52		
VWA3B	200403	broad.mit.edu	37	2	98810866	98810866	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:98810866G>C	ENST00000477737.1	+	12	1852	c.1648G>C	c.(1648-1650)Gat>Cat	p.D550H	VWA3B_ENST00000435344.1_Missense_Mutation_p.D550H|VWA3B_ENST00000451075.2_Missense_Mutation_p.D400H	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	550	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTGAAGTTTGATGGTCAAGC	0.373																																						uc002syo.2		NaN																	0				ovary(3)|large_intestine(2)|skin(1)	6						c.(1648-1650)GAT>CAT		von Willebrand factor A domain containing 3B							160.0	156.0	157.0					2																	98810866		1840	4090	5930	SO:0001583	missense	200403							g.chr2:98810866G>C	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1648G>C	2.37:g.98810866G>C	ENSP00000417955:p.Asp550His					VWA3B_uc010yvh.1_Missense_Mutation_p.D400H|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_Missense_Mutation_p.D69H|VWA3B_uc002sym.2_Missense_Mutation_p.D550H|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.D207H|VWA3B_uc002syp.1_5'UTR	p.D550H	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			12	1912	+			550			VWFA.		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.1648G>C	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.467108	0.63625	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.10288	2.89;2.89;2.89	5.34	4.46	0.54185	von Willebrand factor, type A (3);	0.159672	0.42548	D	0.000694	T	0.32315	0.0825	M	0.74881	2.28	0.32963	D	0.52123	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.998;0.976;0.992	T	0.50355	-0.8838	10	0.66056	D	0.02	.	13.2665	0.60137	0.0782:0.0:0.9218:0.0	.	400;550;550;550	B7Z7Q7;Q502W6;Q502W6-8;Q502W6-6	.;VWA3B_HUMAN;.;.	H	550;550;400	ENSP00000401959:D550H;ENSP00000417955:D550H;ENSP00000389463:D400H	ENSP00000388158:D550H	D	+	1	0	VWA3B	98177298	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.878000	0.63093	1.399000	0.46721	0.555000	0.69702	GAT		0.373	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2		NM_144992		78	57	0	0	0	0.01441	0	78	57		
TSGA10	80705	broad.mit.edu	37	2	99767109	99767109	+	Intron	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:99767109G>A	ENST00000393483.3	-	1	225				C2ORF15_ENST00000409684.1_Missense_Mutation_p.E64K|C2ORF15_ENST00000302513.2_Missense_Mutation_p.E64K	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10						cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ACGAGGGACTGAAAAAAGCAG	0.363																																						uc002szk.2		NaN																	0					0						c.(190-192)GAA>AAA		hypothetical protein LOC150590							75.0	75.0	75.0					2																	99767109		2203	4300	6503	SO:0001627	intron_variant	150590							g.chr2:99767109G>A	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.619+4046C>T	2.37:g.99767109G>A						TSGA10_uc002szi.3_Intron|MRPL30_uc002szl.1_Intron	p.E64K	NM_144706	NP_653307	Q8WU43	CB015_HUMAN			4	589	+			64					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.190G>A	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	G	6.165	0.398661	0.11696	.	.	ENSG00000241962	ENST00000302513;ENST00000409684	.	.	.	4.61	3.74	0.42951	.	.	.	.	.	T	0.39332	0.1074	N	0.08118	0	0.80722	D	1	B	0.23540	0.087	B	0.35931	0.214	T	0.21042	-1.0257	8	0.33940	T	0.23	-5.7973	8.4824	0.33052	0.1054:0.0:0.8946:0.0	.	64	Q8WU43	CB015_HUMAN	K	64	.	ENSP00000302202:E64K	E	+	1	0	C2orf15	99133541	0.988000	0.35896	0.883000	0.34634	0.143000	0.21401	0.880000	0.28159	1.153000	0.42468	0.462000	0.41574	GAA		0.363	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1		NM_182911		12	14	0	0	0	0.003163	0	12	14		
PTPN4	5775	broad.mit.edu	37	2	120712877	120712877	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:120712877G>C	ENST00000263708.2	+	20	2729	c.1958G>C	c.(1957-1959)gGa>gCa	p.G653A	PTPN4_ENST00000544261.1_Missense_Mutation_p.G286A	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	653					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CTTATCACTGGAACAGTCCTG	0.398																																						uc002tmf.1		NaN																	0				ovary(2)	2						c.(1957-1959)GGA>GCA		protein tyrosine phosphatase, non-receptor type	Alendronate(DB00630)						78.0	75.0	76.0					2																	120712877		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120712877G>C		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1958G>C	2.37:g.120712877G>C	ENSP00000263708:p.Gly653Ala					PTPN4_uc010flj.1_Missense_Mutation_p.G366A|PTPN4_uc010yyr.1_Missense_Mutation_p.G286A	p.G653A	NM_002830	NP_002821	P29074	PTN4_HUMAN			20	2729	+			653					B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.1958G>C	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950279	0.92660	.	.	ENSG00000088179	ENST00000263708;ENST00000544261	T;T	0.14144	2.53;2.53	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	M	0.85462	2.755	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.48636	-0.9018	10	0.87932	D	0	.	19.6657	0.95891	0.0:0.0:1.0:0.0	.	653	P29074	PTN4_HUMAN	A	653;286	ENSP00000263708:G653A;ENSP00000445841:G286A	ENSP00000263708:G653A	G	+	2	0	PTPN4	120429347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.756000	0.98918	2.642000	0.89623	0.555000	0.69702	GGA		0.398	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2				17	23	0	0	0	0.003954	0	17	23		
CYP27C1	339761	broad.mit.edu	37	2	127951379	127951379	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:127951379G>C	ENST00000335247.7	-	6	914	c.784C>G	c.(784-786)Ctg>Gtg	p.L262V	CYP27C1_ENST00000409327.1_Missense_Mutation_p.L262V	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	262						membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		TTCGGAATCAGATACCCGCCA	0.597																																						uc002tod.2		NaN																	0					0						c.(784-786)CTG>GTG		cytochrome P450, family 27, subfamily C,							52.0	51.0	51.0					2																	127951379		2203	4300	6503	SO:0001583	missense	339761					membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr2:127951379G>C	AC027142	CCDS33285.1	2q14.3	2008-05-14	2007-05-18		ENSG00000186684	ENSG00000186684		"""Cytochrome P450s"""	33480	protein-coding gene	gene with protein product							Standard	NM_001001665		Approved	FLJ16008	uc002tod.2	Q4G0S4	OTTHUMG00000153400	ENST00000335247.7:c.784C>G	2.37:g.127951379G>C	ENSP00000334128:p.Leu262Val						p.L262V	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.071)	6	915	-	Colorectal(110;0.1)		262					Q6ZNI7	Missense_Mutation	SNP	ENST00000335247.7	37	c.784C>G	CCDS33285.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.389855	0.25118	.	.	ENSG00000186684	ENST00000335247;ENST00000409327	T;T	0.41400	1.0;1.0	4.43	3.54	0.40534	.	0.221898	0.32836	N	0.005583	T	0.28101	0.0693	L	0.35414	1.06	0.32014	N	0.601706	B	0.24258	0.1	B	0.28305	0.088	T	0.24548	-1.0157	10	0.21540	T	0.41	-5.3661	5.9023	0.18974	0.3628:0.0:0.6372:0.0	.	262	Q4G0S4	C27C1_HUMAN	V	262	ENSP00000334128:L262V;ENSP00000387198:L262V	ENSP00000334128:L262V	L	-	1	2	CYP27C1	127667849	1.000000	0.71417	0.923000	0.36655	0.942000	0.58702	1.244000	0.32778	0.972000	0.38314	0.467000	0.42956	CTG		0.597	CYP27C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331046.1		NM_001001665		26	24	0	0	0	0.004656	0	26	24		
LRP1B	53353	broad.mit.edu	37	2	141128300	141128300	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:141128300C>T	ENST00000389484.3	-	71	11958	c.10987G>A	c.(10987-10989)Gat>Aat	p.D3663N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3663	LDL-receptor class A 29. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCTCTTCATCACTGCCATCC	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NaN																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(10987-10989)GAT>AAT		low density lipoprotein-related protein 1B							269.0	252.0	258.0					2																	141128300		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141128300C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10987G>A	2.37:g.141128300C>T	ENSP00000374135:p.Asp3663Asn	TSP Lung(27;0.18)					p.D3663N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	71	11959	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3663			Extracellular (Potential).|LDL-receptor class A 29.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10987G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	35	5.558850	0.96514	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99214	-5.57	5.19	5.19	0.71726	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.99603	0.9856	H	0.95004	3.61	0.58432	D	0.999995	D	0.69078	0.997	D	0.83275	0.996	D	0.97940	1.0325	10	0.62326	D	0.03	.	18.7039	0.91630	0.0:1.0:0.0:0.0	.	3663	Q9NZR2	LRP1B_HUMAN	N	3663;3601	ENSP00000374135:D3663N	ENSP00000374135:D3663N	D	-	1	0	LRP1B	140844770	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.372000	0.79612	2.427000	0.82271	0.491000	0.48974	GAT		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557		118	102	0	0	0	0.01441	0	118	102		
ACVR2A	92	broad.mit.edu	37	2	148653908	148653908	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:148653908T>G	ENST00000241416.7	+	2	730	c.94T>G	c.(94-96)Ttc>Gtc	p.F32V	ACVR2A_ENST00000404590.1_Missense_Mutation_p.F32V|ACVR2A_ENST00000535787.1_Intron	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	32					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GGAGTGTCTTTTCTTTAATGC	0.348																																						uc002twg.2		NaN																	0				stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13						c.(94-96)TTC>GTC		activin A receptor, type IIA precursor							120.0	124.0	122.0					2																	148653908		2203	4300	6503	SO:0001583	missense	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148653908T>G		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.94T>G	2.37:g.148653908T>G	ENSP00000241416:p.Phe32Val					ACVR2A_uc010zbn.1_Intron|ACVR2A_uc002twh.2_Missense_Mutation_p.F32V	p.F32V	NM_001616	NP_001607	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	3	363	+			32			Extracellular (Potential).		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	c.94T>G	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	T	18.43	3.622358	0.66787	.	.	ENSG00000121989	ENST00000241416;ENST00000404590	D;D	0.98901	-5.22;-5.22	5.58	5.58	0.84498	.	0.169560	0.53938	D	0.000048	D	0.96981	0.9014	L	0.42245	1.32	0.80722	D	1	B	0.14805	0.011	B	0.25759	0.063	D	0.95389	0.8480	10	0.32370	T	0.25	.	15.7419	0.77905	0.0:0.0:0.0:1.0	.	32	P27037	AVR2A_HUMAN	V	32	ENSP00000241416:F32V;ENSP00000384338:F32V	ENSP00000241416:F32V	F	+	1	0	ACVR2A	148370378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.090000	0.64498	2.116000	0.64780	0.533000	0.62120	TTC		0.348	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1		NM_001616		34	22	0	0	0	0.01441	0	34	22		
NEB	4703	broad.mit.edu	37	2	152397312	152397312	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:152397312G>C	ENST00000172853.10	-	109	15730	c.15583C>G	c.(15583-15585)Ctg>Gtg	p.L5195V	NEB_ENST00000409198.1_Missense_Mutation_p.L5195V|NEB_ENST00000603639.1_Missense_Mutation_p.L6896V|NEB_ENST00000604864.1_Missense_Mutation_p.L6896V|NEB_ENST00000427231.2_Missense_Mutation_p.L6896V|NEB_ENST00000397345.3_Missense_Mutation_p.L6896V			P20929	NEBU_HUMAN	nebulin	5195					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)		TCAACATACAGATACTGAATA	0.418																																						uc010fnx.2		NaN																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(15583-15585)CTG>GTG		nebulin isoform 3							121.0	117.0	119.0					2																	152397312		2007	4171	6178	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.chr2:152397312G>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.15583C>G	2.37:g.152397312G>C	ENSP00000172853:p.Leu5195Val					NEB_uc002txr.2_Missense_Mutation_p.L1618V	p.L5195V	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	109	15774	-			5195			Nebulin 141.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.15583C>G		.	.	.	.	.	.	.	.	.	.	G	19.66	3.869723	0.72065	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.08984	3.15;3.03;3.09;3.22;3.15	6.07	5.19	0.71726	.	0.126105	0.53938	D	0.000043	T	0.15998	0.0385	L	0.37630	1.12	0.80722	D	1	D;P	0.60160	0.987;0.947	P;D	0.65233	0.798;0.933	T	0.03068	-1.1076	10	0.35671	T	0.21	.	9.8491	0.41046	0.1931:0.0:0.8069:0.0	.	5195;1626	P20929;Q14215	NEBU_HUMAN;.	V	5195;6896;6896;1244;1626;5195	ENSP00000386259:L5195V;ENSP00000380505:L6896V;ENSP00000416578:L6896V;ENSP00000410961:L1626V;ENSP00000172853:L5195V	ENSP00000172853:L5195V	L	-	1	2	NEB	152105558	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.192000	0.50989	1.576000	0.49790	0.650000	0.86243	CTG		0.418	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543		15	24	0	0	0	0.004007	0	15	24		
MYO3B	140469	broad.mit.edu	37	2	171070928	171070928	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:171070928C>G	ENST00000408978.4	+	4	504	c.361C>G	c.(361-363)Cta>Gta	p.L121V	MYO3B_ENST00000334231.6_Missense_Mutation_p.L130V|MYO3B_ENST00000409044.3_Missense_Mutation_p.L121V|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	121	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TGTCAAAGGTCTACTCAGATG	0.483																																						uc002ufy.2		NaN																	0				lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.(361-363)CTA>GTA		myosin IIIB isoform 2							94.0	90.0	91.0					2																	171070928		1951	4167	6118	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171070928C>G		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.361C>G	2.37:g.171070928C>G	ENSP00000386213:p.Leu121Val					MYO3B_uc002ufv.2_Missense_Mutation_p.L108V|MYO3B_uc010fqb.1_Missense_Mutation_p.L108V|MYO3B_uc002ufz.2_Missense_Mutation_p.L121V|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002uga.2_Missense_Mutation_p.L108V	p.L121V	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			4	504	+			121			Protein kinase.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.361C>G	CCDS42773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.06|12.06	1.824765|1.824765	0.32237|0.32237	.|.	.|.	ENSG00000071909|ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231|ENST00000442690	T;T;T;T|.	0.13901|.	2.55;2.55;2.55;2.55|.	5.41|5.41	4.53|4.53	0.55603|0.55603	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.082882|.	0.50627|.	D|.	0.000109|.	T|T	0.53498|0.53498	0.1800|0.1800	L|L	0.43757|0.43757	1.38|1.38	0.42321|0.42321	D|D	0.992259|0.992259	P;P;P;P|.	0.45474|.	0.638;0.859;0.827;0.688|.	B;P;B;B|.	0.45712|.	0.359;0.491;0.314;0.393|.	T|T	0.51012|0.51012	-0.8759|-0.8759	10|5	0.51188|.	T|.	0.08|.	.|.	7.134|7.134	0.25517|0.25517	0.1381:0.7161:0.0:0.1458|0.1381:0.7161:0.0:0.1458	.|.	121;121;121;121|.	Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4|.	.;.;.;MYO3B_HUMAN|.	V|C	121;121;120;130;130|120	ENSP00000386497:L121V;ENSP00000386213:L121V;ENSP00000446237:L130V;ENSP00000335100:L130V|.	ENSP00000314213:L120V|.	L|S	+|+	1|2	2|0	MYO3B|MYO3B	170779174|170779174	0.939000|0.939000	0.31865|0.31865	0.978000|0.978000	0.43139|0.43139	0.997000|0.997000	0.91878|0.91878	0.459000|0.459000	0.21908|0.21908	1.296000|1.296000	0.44742|0.44742	0.650000|0.650000	0.86243|0.86243	CTA|TCT		0.483	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1				46	48	0	0	0	0.01441	0	46	48		
ITGA6	3655	broad.mit.edu	37	2	173352763	173352763	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:173352763C>T	ENST00000264106.6	+	19	2719	c.2516C>T	c.(2515-2517)tCg>tTg	p.S839L	ITGA6_ENST00000409080.1_Missense_Mutation_p.S800L|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Missense_Mutation_p.S681L|ITGA6_ENST00000264107.7_Missense_Mutation_p.S800L|ITGA6_ENST00000375221.2_Missense_Mutation_p.S839L|ITGA6_ENST00000343713.4_Missense_Mutation_p.S795L			P23229	ITA6_HUMAN	integrin, alpha 6	839					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TTATCGGTCTCGGGGTAAGTG	0.333																																						uc002uhp.1		NaN																	0				ovary(1)|lung(1)	2						c.(2398-2400)TCG>TTG		integrin alpha chain, alpha 6 isoform a							168.0	164.0	165.0					2																	173352763		2203	4300	6503	SO:0001583	missense	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173352763C>T		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2516C>T	2.37:g.173352763C>T	ENSP00000264106:p.Ser839Leu					ITGA6_uc010zdy.1_Missense_Mutation_p.S681L|ITGA6_uc002uho.1_Missense_Mutation_p.S800L|ITGA6_uc010fqm.1_Missense_Mutation_p.S446L	p.S800L	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		18	2602	+			839			Extracellular (Potential).		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.2399C>T		.	.	.	.	.	.	.	.	.	.	C	18.13	3.555042	0.65425	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358;ENST00000416789	T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	6.05	6.05	0.98169	.	0.436856	0.29692	N	0.011446	T	0.61726	0.2370	M	0.85041	2.73	0.49582	D	0.999808	B;P;B;P	0.35507	0.147;0.497;0.325;0.506	B;B;B;B	0.32533	0.031;0.147;0.111;0.14	T	0.66590	-0.5885	10	0.66056	D	0.02	.	20.6087	0.99469	0.0:1.0:0.0:0.0	.	795;839;800;800	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	L	681;800;839;839;795;800;839;795;25	ENSP00000386614:S681L;ENSP00000264107:S800L;ENSP00000264106:S839L;ENSP00000364369:S839L;ENSP00000341078:S795L;ENSP00000386896:S800L;ENSP00000406694:S839L;ENSP00000394169:S795L;ENSP00000388435:S25L	ENSP00000264106:S839L	S	+	2	0	ITGA6	173061009	0.974000	0.33945	0.986000	0.45419	0.965000	0.64279	2.537000	0.45702	2.866000	0.98385	0.650000	0.86243	TCG		0.333	ITGA6-201	KNOWN	basic	protein_coding	protein_coding					33	99	0	0	0	0.006999	0	33	99		
PLEKHA3	65977	broad.mit.edu	37	2	179358588	179358588	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:179358588G>A	ENST00000234453.5	+	4	724	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	PLEKHA3_ENST00000461474.1_3'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	108						Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			AGAAATAAGTGAAACCAGTGA	0.308																																						uc002umn.2		NaN																	0				ovary(1)|kidney(1)	2						c.(322-324)GAA>AAA		pleckstrin homology domain containing, family A							54.0	52.0	53.0					2																	179358588		2203	4300	6503	SO:0001583	missense	65977					cytoplasm|membrane		g.chr2:179358588G>A	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.322G>A	2.37:g.179358588G>A	ENSP00000234453:p.Glu108Lys						p.E108K	NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)		4	720	+			108					Q4ZG69|Q86TQ1|Q9NXT3	Missense_Mutation	SNP	ENST00000234453.5	37	c.322G>A	CCDS33336.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741074	0.89573	.	.	ENSG00000116095	ENST00000234453	T	0.12039	2.72	5.83	5.83	0.93111	.	0.251366	0.45361	D	0.000380	T	0.20129	0.0484	M	0.62723	1.935	0.80722	D	1	B	0.33345	0.409	B	0.37601	0.254	T	0.04855	-1.0922	10	0.10902	T	0.67	1.8102	20.1356	0.98028	0.0:0.0:1.0:0.0	.	108	Q9HB20	PKHA3_HUMAN	K	108	ENSP00000234453:E108K	ENSP00000234453:E108K	E	+	1	0	PLEKHA3	179066834	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.669000	0.98622	2.755000	0.94549	0.650000	0.86243	GAA		0.308	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2		NM_019091		6	24	0	0	0	0.004482	0	6	24		
BMPR2	659	broad.mit.edu	37	2	203397422	203397422	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:203397422G>C	ENST00000374580.4	+	9	1782	c.1243G>C	c.(1243-1245)Gag>Cag	p.E415Q	BMPR2_ENST00000374574.2_Missense_Mutation_p.E415Q	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	415	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AATCTATTGGGAGATATTTAT	0.373																																						uc002uzf.3		NaN																	0				ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						c.(1243-1245)GAG>CAG		bone morphogenetic protein receptor type II							92.0	90.0	91.0					2																	203397422		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203397422G>C	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1243G>C	2.37:g.203397422G>C	ENSP00000363708:p.Glu415Gln					BMPR2_uc010ftr.2_Missense_Mutation_p.E415Q	p.E415Q	NM_001204	NP_001195	Q13873	BMPR2_HUMAN			9	2391	+			415			Protein kinase.|Cytoplasmic (Potential).		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.1243G>C	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	G	31	5.096152	0.94197	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.95949	-3.86;-3.86	5.28	5.28	0.74379	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97967	0.9331	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98616	1.0665	10	0.87932	D	0	.	19.2592	0.93961	0.0:0.0:1.0:0.0	.	415;415	Q13161;Q13873	.;BMPR2_HUMAN	Q	415	ENSP00000363708:E415Q;ENSP00000363702:E415Q	ENSP00000363702:E415Q	E	+	1	0	BMPR2	203105667	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.534000	0.98061	2.646000	0.89796	0.655000	0.94253	GAG		0.373	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1		NM_001204		23	19	0	0	0	0.007291	0	23	19		
IKZF2	22807	broad.mit.edu	37	2	213914495	213914495	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:213914495G>T	ENST00000434687.1	-	6	825	c.516C>A	c.(514-516)ttC>ttA	p.F172L	IKZF2_ENST00000421754.2_Missense_Mutation_p.F146L|IKZF2_ENST00000413091.3_Missense_Mutation_p.F172L|IKZF2_ENST00000374319.4_Missense_Mutation_p.F146L|IKZF2_ENST00000342002.2_Missense_Mutation_p.F178L|IKZF2_ENST00000457361.1_Missense_Mutation_p.F172L|IKZF2_ENST00000451136.2_Missense_Mutation_p.F146L|IKZF2_ENST00000374327.4_Intron			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	172					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CGTAGCTACAGAAAGGACATT	0.473																																						uc002vem.2		NaN																	0					0						c.(514-516)TTC>TTA		helios isoform 1							97.0	85.0	89.0					2																	213914495		2203	4300	6503	SO:0001583	missense	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213914495G>T	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.516C>A	2.37:g.213914495G>T	ENSP00000412869:p.Phe172Leu					IKZF2_uc010fuu.2_Intron|IKZF2_uc002vej.2_Missense_Mutation_p.F119L|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Missense_Mutation_p.F146L|IKZF2_uc002vel.2_Missense_Mutation_p.F93L|IKZF2_uc010fuw.2_Translation_Start_Site|IKZF2_uc010fux.2_Translation_Start_Site|IKZF2_uc010fuy.2_Missense_Mutation_p.F146L|IKZF2_uc002ven.2_Missense_Mutation_p.F146L	p.F172L	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	5	685	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	172			C2H2-type 3.		Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	c.516C>A	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	G	9.896	1.205538	0.22205	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000413091	T;T;T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.53;2.34;2.34	6.03	5.13	0.70059	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	T	0.10723	0.0262	N	0.00815	-1.16	0.58432	D	0.999992	B;D;B;D	0.64830	0.394;0.974;0.024;0.994	B;D;B;D	0.79108	0.255;0.969;0.043;0.992	T	0.41324	-0.9515	10	0.02654	T	1	-3.1819	10.0599	0.42268	0.0738:0.1357:0.7905:0.0	.	146;146;146;172	C9JCG7;C9JTM9;Q9UKS7-2;Q9UKS7	.;.;.;IKZF2_HUMAN	L	172;178;172;146;146;146;172	ENSP00000410447:F172L;ENSP00000342876:F178L;ENSP00000412869:F172L;ENSP00000363439:F146L;ENSP00000395203:F146L;ENSP00000399574:F146L;ENSP00000402334:F172L	ENSP00000342876:F178L	F	-	3	2	IKZF2	213622740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.404000	0.44539	1.492000	0.48499	0.655000	0.94253	TTC		0.473	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3		NM_016260		23	37	1	0	2.41591e-17	0.004656	2.57245e-17	23	37		
NHEJ1	79840	broad.mit.edu	37	2	220022246	220022246	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:220022246G>C	ENST00000356853.5	-	3	471	c.338C>G	c.(337-339)tCt>tGt	p.S113C	NHEJ1_ENST00000409720.1_Missense_Mutation_p.S113C	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	113	Globular head.				B cell differentiation (GO:0030183)|central nervous system development (GO:0007417)|DNA recombination (GO:0006310)|double-strand break repair via nonhomologous end joining (GO:0006303)|positive regulation of ligase activity (GO:0051351)|response to ionizing radiation (GO:0010212)|T cell differentiation (GO:0030217)	nonhomologous end joining complex (GO:0070419)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		GGGGAGGCCAGAGAGCTCACT	0.527								Non-homologous end-joining																														uc002vjp.3		NaN																	0				lung(1)	1						c.(337-339)TCT>TGT	Direct_reversal_of_damage|NHEJ	nonhomologous end-joining factor 1							111.0	97.0	102.0					2																	220022246		2203	4300	6503	SO:0001583	missense	79840				B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding	g.chr2:220022246G>C	AJ972687	CCDS2432.1	2q35	2014-09-17			ENSG00000187736	ENSG00000187736			25737	protein-coding gene	gene with protein product		611290				16439204, 16439205	Standard	NM_024782		Approved	Cernunnos, XLF, FLJ12610	uc002vjp.4	Q9H9Q4	OTTHUMG00000133127	ENST00000356853.5:c.338C>G	2.37:g.220022246G>C	ENSP00000349313:p.Ser113Cys					NHEJ1_uc002vjq.3_RNA	p.S113C	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)	3	484	-		Renal(207;0.0915)	113					B8ZZA4|Q4ZFW7|Q6IA64|Q96JS9	Missense_Mutation	SNP	ENST00000356853.5	37	c.338C>G	CCDS2432.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103189	0.76983	.	.	ENSG00000187736	ENST00000409720;ENST00000356853;ENST00000426304;ENST00000457600	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.02	5.02	0.67125	DNA double-strand break repair and VJ recombination XRCC4, N-terminal (1);	0.152547	0.44097	U	0.000490	T	0.78880	0.4353	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79186	-0.1907	10	0.49607	T	0.09	-2.1746	18.5235	0.90962	0.0:0.0:1.0:0.0	.	113	Q9H9Q4	NHEJ1_HUMAN	C	113;113;33;113	ENSP00000387290:S113C;ENSP00000349313:S113C;ENSP00000394896:S33C;ENSP00000407201:S113C	ENSP00000349313:S113C	S	-	2	0	NHEJ1	219730490	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.493000	0.81493	2.614000	0.88457	0.563000	0.77884	TCT		0.527	NHEJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256817.2		NM_024782		32	33	0	0	0	0.005524	0	32	33		
CNPPD1	27013	broad.mit.edu	37	2	220041503	220041503	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:220041503G>A	ENST00000409789.1	-	2	475	c.48C>T	c.(46-48)ctC>ctT	p.L16L	FAM134A_ENST00000430297.2_5'Flank|CNPPD1_ENST00000360507.5_Silent_p.L16L			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	16					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						GGAAGCCGGCGAGGGAGAAGG	0.711																																						uc002vju.3		NaN																	0					0						c.(46-48)CTC>CTT		hypothetical protein LOC27013							19.0	20.0	20.0					2																	220041503		2174	4268	6442	SO:0001819	synonymous_variant	27013				regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding	g.chr2:220041503G>A	AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 24"""	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.48C>T	2.37:g.220041503G>A						C2orf24_uc002vjv.2_Silent_p.L16L|FAM134A_uc002vjw.3_5'Flank|FAM134A_uc010fwc.2_5'Flank	p.L16L	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	200	-		Renal(207;0.0915)	16					B2RC77|O75548|Q9H4N0|Q9UQN0	Silent	SNP	ENST00000409789.1	37	c.48C>T	CCDS2433.1																																																																																				0.711	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336220.1		NM_015680		4	3	0	0	0	0.001984	0	4	3		
STK11IP	114790	broad.mit.edu	37	2	220470931	220470931	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:220470931G>C	ENST00000456909.1	+	10	954	c.864G>C	c.(862-864)ggG>ggC	p.G288G	STK11IP_ENST00000295641.10_Silent_p.G299G			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	299					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTGGAGGGGAACCCTCTTT	0.632											OREG0003992	type=REGULATORY REGION|Gene=STK11IP|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002vml.2		NaN																	0				ovary(1)	1						c.(895-897)GGG>GGC		LKB1 interacting protein							20.0	24.0	23.0					2																	220470931		2008	4145	6153	SO:0001819	synonymous_variant	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220470931G>C	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.864G>C	2.37:g.220470931G>C			OREG0003992	type=REGULATORY REGION|Gene=STK11IP|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	2267	STK11IP_uc010zlk.1_Silent_p.G288G|STK11IP_uc010zll.1_Intron|STK11IP_uc002vmm.1_Silent_p.G288G	p.G299G	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	940	+		Renal(207;0.0183)	299			LRR 8.		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Silent	SNP	ENST00000456909.1	37	c.897G>C																																																																																					0.632	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1		NM_052902		2	6	0	0	0	0.004672	0	2	6		
CCDC140	151278	broad.mit.edu	37	2	223169071	223169071	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:223169071G>C	ENST00000295226.1	+	2	834	c.450G>C	c.(448-450)aaG>aaC	p.K150N		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	150										endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		aagagagaaagagaagaaaag	0.473																																						uc002vnb.1		NaN																	0					0						c.(448-450)AAG>AAC		coiled-coil domain containing 140							10.0	12.0	11.0					2																	223169071		2134	4250	6384	SO:0001583	missense	151278							g.chr2:223169071G>C	AK057009	CCDS2452.1	2q36.1	2008-02-05			ENSG00000163081	ENSG00000163081			26514	protein-coding gene	gene with protein product							Standard	NM_153038		Approved	FLJ32447	uc002vnb.1	Q96MF4	OTTHUMG00000133154	ENST00000295226.1:c.450G>C	2.37:g.223169071G>C	ENSP00000295226:p.Lys150Asn						p.K150N	NM_153038	NP_694583	Q96MF4	CC140_HUMAN		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	834	+		Renal(207;0.0376)	150			Potential.			Missense_Mutation	SNP	ENST00000295226.1	37	c.450G>C	CCDS2452.1	.	.	.	.	.	.	.	.	.	.	G	2.217	-0.379355	0.05000	.	.	ENSG00000163081	ENST00000295226	.	.	.	2.22	0.0173	0.14112	.	.	.	.	.	T	0.16642	0.0400	N	0.08118	0	0.09310	N	1	B	0.20459	0.045	B	0.14023	0.01	T	0.20273	-1.0280	8	0.87932	D	0	.	4.1939	0.10435	0.4988:0.0:0.5012:0.0	.	150	Q96MF4	CC140_HUMAN	N	150	.	ENSP00000295226:K150N	K	+	3	2	CCDC140	222877315	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.127000	0.10547	-0.016000	0.14127	-0.350000	0.07774	AAG		0.473	CCDC140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256854.1		NM_153038		5	2	0	0	0	0.000602	0	5	2		
TRIP12	9320	broad.mit.edu	37	2	230661454	230661454	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:230661454G>A	ENST00000283943.5	-	24	3622	c.3444C>T	c.(3442-3444)gtC>gtT	p.V1148V	TRIP12_ENST00000389044.4_Silent_p.V1196V|TRIP12_ENST00000389045.3_Silent_p.V878V|TRIP12_ENST00000543084.1_3'UTR	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1148					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTGACTCTGAGACTATGCTAC	0.373																																						uc002vpw.1		NaN																	0				ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(3442-3444)GTC>GTT		thyroid hormone receptor interactor 12							91.0	89.0	90.0					2																	230661454		2203	4300	6503	SO:0001819	synonymous_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230661454G>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3444C>T	2.37:g.230661454G>A						TRIP12_uc002vpx.1_Silent_p.V1196V|TRIP12_uc002vpy.1_Silent_p.V878V|TRIP12_uc010zlz.1_RNA	p.V1148V	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	24	3553	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1148					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	c.3444C>T	CCDS33391.1																																																																																				0.373	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3		NM_004238		19	43	0	0	0	0.003954	0	19	43		
RNPEPL1	57140	broad.mit.edu	37	2	241516112	241516112	+	Missense_Mutation	SNP	C	C	G	rs190924928		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr2:241516112C>G	ENST00000270357.4	+	9	1571	c.978C>G	c.(976-978)atC>atG	p.I326M	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	326					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCATTGACATCTCCAAGTGGA	0.672																																						uc002vzi.2		NaN																	0				large_intestine(1)|skin(1)	2						c.(976-978)ATC>ATG		arginyl aminopeptidase (aminopeptidase B)-like							44.0	49.0	47.0					2																	241516112		2203	4298	6501	SO:0001583	missense	57140				leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr2:241516112C>G			2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.978C>G	2.37:g.241516112C>G	ENSP00000270357:p.Ile326Met					RNPEPL1_uc010fzf.2_Missense_Mutation_p.I232M|RNPEPL1_uc002vzj.2_Translation_Start_Site	p.I326M	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)	9	1571	+		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)	326					Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	ENST00000270357.4	37	c.978C>G		.	.	.	.	.	.	.	.	.	.	C	15.78	2.933475	0.52866	.	.	ENSG00000142327	ENST00000451363;ENST00000270357;ENST00000437406	T;T	0.50001	0.76;0.76	4.3	3.42	0.39159	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.132843	0.50627	D	0.000106	T	0.57873	0.2083	L	0.57536	1.79	0.31944	N	0.610546	D;P	0.59357	0.985;0.867	P;P	0.61070	0.883;0.786	T	0.65664	-0.6113	10	0.62326	D	0.03	-10.5587	9.7474	0.40455	0.0:0.8946:0.0:0.1054	.	232;326	A4FTX9;Q9HAU8	.;RNPL1_HUMAN	M	104;326;79	ENSP00000270357:I326M;ENSP00000403319:I79M	ENSP00000270357:I326M	I	+	3	3	RNPEPL1	241164785	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.329000	0.52060	0.799000	0.34018	0.491000	0.48974	ATC		0.672	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4		NM_018226		48	30	0	0	0	0.01441	0	48	30		
NSFL1C	55968	broad.mit.edu	37	20	1433191	1433191	+	Silent	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:1433191C>A	ENST00000216879.4	-	7	1599	c.732G>T	c.(730-732)gtG>gtT	p.V244V	NSFL1C_ENST00000353088.2_Silent_p.V213V|NSFL1C_ENST00000350991.4_Silent_p.V246V|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000381658.4_Silent_p.V133V|NSFL1C_ENST00000476071.1_Silent_p.V246V	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	244	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CTTTGGGCTTCACAAAGTCCT	0.567																																						uc002wfc.2		NaN																	0					0						c.(730-732)GTG>GTT		p47 protein isoform a							170.0	150.0	157.0					20																	1433191		2203	4300	6503	SO:0001819	synonymous_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1433191C>A	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.732G>T	20.37:g.1433191C>A						NSFL1C_uc002wfd.2_Silent_p.V133V|NSFL1C_uc002wfe.2_Silent_p.V213V|NSFL1C_uc002wff.2_RNA|NSFL1C_uc010gag.2_Silent_p.V10V	p.V244V	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN			7	1680	-			244			SEP.		A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Silent	SNP	ENST00000216879.4	37	c.732G>T	CCDS13015.1																																																																																				0.567	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2		NM_016143		79	84	1	0	2.1089e-46	0.01441	2.31557e-46	79	84		
TMC2	117532	broad.mit.edu	37	20	2582792	2582792	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:2582792G>C	ENST00000358864.1	+	11	1273	c.1258G>C	c.(1258-1260)Gaa>Caa	p.E420Q		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	420					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GAGTAACAAAGAAGAAAATAT	0.403																																						uc002wgf.1		NaN																	0				ovary(3)	3						c.(1258-1260)GAA>CAA		transmembrane cochlear-expressed protein 2							172.0	153.0	159.0					20																	2582792		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2582792G>C	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1258G>C	20.37:g.2582792G>C	ENSP00000351732:p.Glu420Gln					TMC2_uc002wgg.1_Missense_Mutation_p.E404Q|TMC2_uc010zpw.1_Missense_Mutation_p.E252Q|TMC2_uc010zpx.1_Missense_Mutation_p.E251Q	p.E420Q	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			11	1273	+			420			Cytoplasmic (Potential).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.1258G>C	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002351	0.93227	.	.	ENSG00000149488	ENST00000358864	D	0.82711	-1.64	5.58	5.58	0.84498	.	0.257583	0.42172	D	0.000759	D	0.89047	0.6604	M	0.64404	1.975	0.51482	D	0.999921	P;P;D;D	0.67145	0.858;0.856;0.996;0.996	P;B;D;P	0.65010	0.501;0.205;0.931;0.881	D	0.87651	0.2528	10	0.40728	T	0.16	-17.9698	17.4555	0.87606	0.0:0.0:1.0:0.0	.	251;252;420;420	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	Q	420	ENSP00000351732:E420Q	ENSP00000351732:E420Q	E	+	1	0	TMC2	2530792	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	GAA		0.403	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2				40	32	0	0	0	0.01441	0	40	32		
TRMT6	51605	broad.mit.edu	37	20	5927104	5927104	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:5927104C>T	ENST00000203001.2	-	2	334	c.204G>A	c.(202-204)gtG>gtA	p.V68V	TRMT6_ENST00000453074.2_5'UTR|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	68					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						CTCCACTGGTCACTTCAAATG	0.418																																						uc002wmh.1		NaN																	0				pancreas(1)	1						c.(202-204)GTG>GTA		tRNA methyltransferase 6							201.0	163.0	176.0					20																	5927104		2203	4300	6503	SO:0001819	synonymous_variant	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5927104C>T	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.204G>A	20.37:g.5927104C>T						TRMT6_uc010zra.1_5'UTR|TRMT6_uc010gbn.1_5'UTR|TRMT6_uc010gbo.1_RNA	p.V68V	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN			2	326	-			68					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Silent	SNP	ENST00000203001.2	37	c.204G>A	CCDS13093.1																																																																																				0.418	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2				31	55	0	0	0	0.003755	0	31	55		
PAK7	57144	broad.mit.edu	37	20	9520184	9520184	+	Silent	SNP	G	G	A	rs141553527		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:9520184G>A	ENST00000378429.3	-	11	2631	c.2085C>T	c.(2083-2085)ctC>ctT	p.L695L	PAK7_ENST00000378423.1_Silent_p.L695L|PAK7_ENST00000353224.5_Silent_p.L695L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	695	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATGGATGTCCGAGGAGTTCCT	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		17880	0.001		0.0	False		,,,				2504	0.0					uc002wnl.2		NaN																	0				lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(2083-2085)CTC>CTT		p21-activated kinase 7		G	,	1,4405	2.1+/-5.4	0,1,2202	236.0	216.0	223.0		2085,2085	-11.0	0.6	20	dbSNP_134	223	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PAK7	NM_020341.3,NM_177990.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	695/720,695/720	9520184	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9520184G>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.2085C>T	20.37:g.9520184G>A						PAK7_uc002wnk.2_Silent_p.L695L|PAK7_uc002wnj.2_Silent_p.L695L|PAK7_uc010gby.1_Silent_p.L608L	p.L695L	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		11	2630	-			695			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.2085C>T	CCDS13107.1																																																																																				0.512	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1				87	137	0	0	0	0.01441	0	87	137		
MKKS	8195	broad.mit.edu	37	20	10389350	10389350	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:10389350G>A	ENST00000347364.3	-	4	1849	c.1087C>T	c.(1087-1089)Ctt>Ttt	p.L363F	MKKS_ENST00000399054.2_Missense_Mutation_p.L363F	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	363	Substrate-binding apical domain.				artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TTAGGAATAAGATGAAAAAAA	0.398																																					Melanoma(79;1979 2212 6640)	uc002wnt.1		NaN																	0					0						c.(1087-1089)CTT>TTT		McKusick-Kaufman syndrome protein							90.0	82.0	85.0					20																	10389350		2203	4300	6503	SO:0001583	missense	8195	Bardet-Biedl_syndrome			brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding	g.chr20:10389350G>A	AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"""Heat Shock Proteins / Chaperonins"""	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.1087C>T	20.37:g.10389350G>A	ENSP00000246062:p.Leu363Phe					MKKS_uc002wnu.1_Missense_Mutation_p.L363F|MKKS_uc010zrd.1_RNA	p.L363F	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN			4	1974	-			363			Substrate-binding apical domain.		A8K7B0|D3DW18	Missense_Mutation	SNP	ENST00000347364.3	37	c.1087C>T	CCDS13111.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021728	0.75275	.	.	ENSG00000125863	ENST00000347364;ENST00000399054	T;T	0.74209	-0.82;-0.82	5.74	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.85212	0.5645	M	0.78637	2.42	0.58432	D	0.999998	D	0.76494	0.999	D	0.72075	0.976	D	0.84256	0.0480	10	0.40728	T	0.16	-36.6014	15.6957	0.77494	0.0687:0.0:0.9313:0.0	.	363	Q9NPJ1	MKKS_HUMAN	F	363	ENSP00000246062:L363F;ENSP00000382008:L363F	ENSP00000246062:L363F	L	-	1	0	MKKS	10337350	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.124000	0.50461	2.873000	0.98535	0.563000	0.77884	CTT		0.398	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077991.3				23	32	0	0	0	0.00278	0	23	32		
GTSF1L	149699	broad.mit.edu	37	20	42354926	42354926	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:42354926C>G	ENST00000373003.1	-	1	712	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	GTSF1L_ENST00000373005.2_Missense_Mutation_p.E112Q	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	137							metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGACTGGTCTCTCTTGCTGAC	0.473																																						uc002xld.2		NaN																	0					0						c.(409-411)GAG>CAG		gametocyte specific factor 1-like isoform 1							123.0	112.0	116.0					20																	42354926		2203	4300	6503	SO:0001583	missense	149699						metal ion binding	g.chr20:42354926C>G	AK058060	CCDS13323.1, CCDS33471.1	20q13.12	2007-11-27	2007-11-27	2007-11-27	ENSG00000124196	ENSG00000124196			16198	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 65"", ""family with sequence similarity 112, member A"""	C20orf65, FAM112A			Standard	NM_176791		Approved	dJ1028D15.4	uc002xld.3	Q9H1H1	OTTHUMG00000032510	ENST00000373003.1:c.409G>C	20.37:g.42354926C>G	ENSP00000362094:p.Glu137Gln					GTSF1L_uc002xlc.2_Missense_Mutation_p.E112Q	p.E137Q	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		1	717	-		Myeloproliferative disorder(115;0.00452)	137					Q5JWH5	Missense_Mutation	SNP	ENST00000373003.1	37	c.409G>C	CCDS13323.1	.	.	.	.	.	.	.	.	.	.	C	4.036	0.004171	0.07866	.	.	ENSG00000124196	ENST00000373003;ENST00000373005	T;T	0.53423	0.73;0.62	3.5	1.4	0.22301	.	0.602886	0.14962	N	0.288340	T	0.28665	0.0710	L	0.52573	1.65	0.09310	N	1	P;B	0.44627	0.839;0.148	B;B	0.31614	0.133;0.027	T	0.14172	-1.0482	10	0.22109	T	0.4	-23.8407	3.9141	0.09216	0.0:0.3911:0.0:0.6089	.	137;112	Q9H1H1;Q5JWH5	GTSFL_HUMAN;.	Q	137;112	ENSP00000362094:E137Q;ENSP00000362096:E112Q	ENSP00000362094:E137Q	E	-	1	0	GTSF1L	41788340	0.052000	0.20516	0.155000	0.22561	0.109000	0.19521	0.322000	0.19576	0.357000	0.24183	-0.488000	0.04728	GAG		0.473	GTSF1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079313.1		NM_176791		67	39	0	0	0	0.01441	0	67	39		
SLC35C2	51006	broad.mit.edu	37	20	44984459	44984459	+	Silent	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:44984459G>T	ENST00000372227.1	-	5	930	c.390C>A	c.(388-390)atC>atA	p.I130I	SLC35C2_ENST00000493599.1_5'Flank|SLC35C2_ENST00000372230.5_Silent_p.I130I|SLC35C2_ENST00000543605.1_Silent_p.I159I|SLC35C2_ENST00000317734.8_Silent_p.I130I|SLC35C2_ENST00000372229.1_Intron|SLC35C2_ENST00000243896.2_Silent_p.I130I	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	130					negative regulation of gene expression (GO:0010629)|positive regulation of Notch signaling pathway (GO:0045747)|protein O-linked fucosylation (GO:0036066)|transport (GO:0006810)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				CCAGCTTGAAGATCAGAGAGA	0.517																																						uc002xro.2		NaN																	0				ovary(1)	1						c.(388-390)ATC>ATA		solute carrier family 35, member C2 isoform a							145.0	140.0	142.0					20																	44984459		2203	4300	6503	SO:0001819	synonymous_variant	51006				transport	integral to membrane		g.chr20:44984459G>T		CCDS13396.1, CCDS13397.1, CCDS63292.1	20q13.12	2013-07-17	2013-07-17	2003-10-10	ENSG00000080189	ENSG00000080189		"""Solute carriers"""	17117	protein-coding gene	gene with protein product			"""ovarian cancer overexpressed 1"", ""solute carrier family 35, member C2"""	C20orf5, OVCOV1		10810093, 11549316	Standard	NM_173179		Approved	CGI-15, bA394O2.1	uc002xrq.3	Q9NQQ7	OTTHUMG00000033050	ENST00000372227.1:c.390C>A	20.37:g.44984459G>T						SLC35C2_uc002xrp.2_Silent_p.I130I|SLC35C2_uc002xrq.2_Silent_p.I130I|SLC35C2_uc002xrr.2_Silent_p.I130I|SLC35C2_uc010zxn.1_Silent_p.I16I|SLC35C2_uc010zxo.1_Silent_p.I16I|SLC35C2_uc010zxp.1_Silent_p.I159I	p.I130I	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN			5	931	-		Myeloproliferative disorder(115;0.0122)	130					B7Z6V6|E1P5T0|Q53GK3|Q5JW05|Q96CJ8|Q9Y304	Silent	SNP	ENST00000372227.1	37	c.390C>A	CCDS13396.1																																																																																				0.517	SLC35C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080363.1		NM_015945		45	123	1	0	2.29192e-23	0.01441	2.47246e-23	45	123		
PREX1	57580	broad.mit.edu	37	20	47260976	47260976	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:47260976G>C	ENST00000371941.3	-	27	3594	c.3572C>G	c.(3571-3573)tCc>tGc	p.S1191C	PREX1_ENST00000496915.1_5'Flank|PREX1_ENST00000396220.1_Missense_Mutation_p.S1191C	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1191					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCCCAAGTAGGAGCTGTTACT	0.562																																						uc002xtw.1		NaN																	0				lung(3)|ovary(2)|pancreas(1)	6						c.(3571-3573)TCC>TGC		phosphatidylinositol-3,4,							100.0	78.0	85.0					20																	47260976		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47260976G>C	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3572C>G	20.37:g.47260976G>C	ENSP00000361009:p.Ser1191Cys					PREX1_uc002xtv.1_Missense_Mutation_p.S488C	p.S1191C	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		27	3595	-			1191					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.3572C>G	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804205	0.90623	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.58797	0.31;0.31	5.14	5.14	0.70334	.	0.000000	0.53938	U	0.000050	T	0.75635	0.3876	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78505	-0.2178	10	0.87932	D	0	.	18.626	0.91338	0.0:0.0:1.0:0.0	.	1191;488	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	C	1191	ENSP00000361009:S1191C;ENSP00000379522:S1191C	ENSP00000361009:S1191C	S	-	2	0	PREX1	46694383	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.398000	0.81561	0.655000	0.94253	TCC		0.562	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1		NM_020820		30	24	0	0	0	0.006999	0	30	24		
STAU1	6780	broad.mit.edu	37	20	47736621	47736621	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:47736621C>G	ENST00000371856.2	-	9	1421	c.1011G>C	c.(1009-1011)aaG>aaC	p.K337N	STAU1_ENST00000340954.7_Missense_Mutation_p.K256N|STAU1_ENST00000347458.5_Missense_Mutation_p.K256N|STAU1_ENST00000371802.1_Missense_Mutation_p.K262N|STAU1_ENST00000360426.4_Missense_Mutation_p.K256N|STAU1_ENST00000371828.3_Missense_Mutation_p.K262N|STAU1_ENST00000371792.1_Missense_Mutation_p.K254N	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	337	DRBM 3. {ECO:0000255|PROSITE- ProRule:PRU00266}.				intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TGGCCACCTTCTTGTTGGTGC	0.522																																						uc002xud.2		NaN																	0				ovary(4)|kidney(1)	5						c.(1009-1011)AAG>AAC		staufen isoform b							128.0	89.0	102.0					20																	47736621		2203	4300	6503	SO:0001583	missense	6780					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	g.chr20:47736621C>G		CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1011G>C	20.37:g.47736621C>G	ENSP00000360922:p.Lys337Asn					STAU1_uc002xua.2_Missense_Mutation_p.K256N|STAU1_uc002xub.2_Missense_Mutation_p.K262N|STAU1_uc002xuc.2_Missense_Mutation_p.K256N|STAU1_uc002xue.2_Missense_Mutation_p.K256N|STAU1_uc002xuf.2_Missense_Mutation_p.K262N|STAU1_uc002xug.2_Missense_Mutation_p.K337N	p.K337N	NM_017453	NP_059347	O95793	STAU1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)		9	1422	-			337			DRBM 3.		A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	c.1011G>C	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457372	0.84317	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792	D;D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	5.65	5.65	0.86999	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.96103	0.8730	H	0.99169	4.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96627	0.9464	10	0.87932	D	0	-21.4368	10.7883	0.46417	0.0:0.8854:0.0:0.1146	.	337;262	O95793;Q5JW29	STAU1_HUMAN;.	N	262;256;337;256;256;256;262;254	ENSP00000360893:K262N;ENSP00000345425:K256N;ENSP00000360922:K337N;ENSP00000353604:K256N;ENSP00000323443:K256N;ENSP00000360867:K262N;ENSP00000360857:K254N	ENSP00000345425:K256N	K	-	3	2	STAU1	47170028	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.223000	0.42936	2.671000	0.90904	0.650000	0.86243	AAG		0.522	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1		NM_017453		41	19	0	0	0	0.01441	0	41	19		
DPM1	8813	broad.mit.edu	37	20	49576100	49576100	+	5'Flank	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:49576100G>A	ENST00000371588.5	-	0	0				DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000371583.5_5'Flank|MOCS3_ENST00000244051.1_Missense_Mutation_p.D241N	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CAACTGCGCGGACGGCGGGGT	0.622																																						uc002xvy.1		NaN																	0				skin(2)|ovary(1)	3						c.(721-723)GAC>AAC		molybdenum cofactor synthesis 3							57.0	64.0	61.0					20																	49576100		2203	4300	6503	SO:0001631	upstream_gene_variant	27304				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	g.chr20:49576100G>A	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49576100G>A	Exception_encountered					DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	p.D241N	NM_014484	NP_055299	O95396	MOCS3_HUMAN			1	738	+			241					O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	c.721G>A	CCDS13434.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031129	0.75504	.	.	ENSG00000124217	ENST00000244051	T	0.29397	1.57	5.33	5.33	0.75918	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);MoeZ/MoeB (1);	0.108523	0.64402	D	0.000009	T	0.56108	0.1963	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.58399	-0.7643	9	.	.	.	-6.6035	12.3779	0.55291	0.0771:0.0:0.9229:0.0	.	241	O95396	MOCS3_HUMAN	N	241	ENSP00000244051:D241N	.	D	+	1	0	MOCS3	49009507	1.000000	0.71417	0.921000	0.36526	0.334000	0.28698	9.026000	0.93700	2.490000	0.84030	0.561000	0.74099	GAC		0.622	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1		NM_003859		64	173	0	0	0	0.01441	0	64	173		
ZFP64	55734	broad.mit.edu	37	20	50769825	50769825	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:50769825G>C	ENST00000216923.4	-	6	1255	c.906C>G	c.(904-906)ctC>ctG	p.L302L	ZFP64_ENST00000346617.4_Silent_p.L248L|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Silent_p.L300L	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TGTGCGACTTGAGGTTCCCCT	0.557																																						uc002xwl.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(904-906)CTC>CTG		zinc finger protein 64 isoform a							125.0	113.0	117.0					20																	50769825		2203	4300	6503	SO:0001819	synonymous_variant	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769825G>C	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.906C>G	20.37:g.50769825G>C						ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Silent_p.L300L|ZFP64_uc002xwn.2_Silent_p.L248L	p.L302L	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN			6	1255	-			302			C2H2-type 5.		Q9NTS7|Q9NVH4	Silent	SNP	ENST00000216923.4	37	c.906C>G	CCDS13440.1																																																																																				0.557	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1		NM_018197		45	147	0	0	0	0.01441	0	45	147		
CTCFL	140690	broad.mit.edu	37	20	56090809	56090809	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:56090809C>G	ENST00000608263.1	-	5	1802	c.1141G>C	c.(1141-1143)Gat>Cat	p.D381H	CTCFL_ENST00000608903.1_Missense_Mutation_p.D119H|CTCFL_ENST00000243914.3_Missense_Mutation_p.D381H|CTCFL_ENST00000423479.3_Missense_Mutation_p.D381H|CTCFL_ENST00000539382.1_Missense_Mutation_p.D176H|CTCFL_ENST00000609232.1_Missense_Mutation_p.D381H|CTCFL_ENST00000433949.3_Missense_Mutation_p.D176H|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000422869.2_Missense_Mutation_p.D381H|CTCFL_ENST00000502686.2_Missense_Mutation_p.D119H|CTCFL_ENST00000608440.1_Missense_Mutation_p.D381H|CTCFL_ENST00000429804.3_Missense_Mutation_p.D381H|CTCFL_ENST00000608425.1_Missense_Mutation_p.D381H|CTCFL_ENST00000371196.2_Missense_Mutation_p.D381H	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	381					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TTGTAGGTATCTCTGCTGGCA	0.478																																						uc010gix.1		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(1141-1143)GAT>CAT		CCCTC-binding factor-like protein							176.0	166.0	170.0					20																	56090809		2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56090809C>G		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1141G>C	20.37:g.56090809C>G	ENSP00000476783:p.Asp381His					CTCFL_uc010giw.1_Missense_Mutation_p.D381H|CTCFL_uc002xym.2_Missense_Mutation_p.D381H|CTCFL_uc010giz.1_5'UTR|CTCFL_uc010giy.1_5'UTR|CTCFL_uc010gja.1_Missense_Mutation_p.D381H|CTCFL_uc010gjb.1_Missense_Mutation_p.D381H|CTCFL_uc010gjc.1_Missense_Mutation_p.D381H|CTCFL_uc010gjd.1_Missense_Mutation_p.D381H|CTCFL_uc010gje.2_Missense_Mutation_p.D381H|CTCFL_uc010gjf.2_Missense_Mutation_p.D176H|CTCFL_uc010gjg.2_Missense_Mutation_p.D113H|CTCFL_uc010gjh.1_Intron|CTCFL_uc010gji.1_Missense_Mutation_p.D176H|CTCFL_uc010gjj.1_Missense_Mutation_p.D381H	p.D381H	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		5	1803	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		381			C2H2-type 5.		A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.1141G>C	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358351	0.82243	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T	0.27720	2.49;2.49;2.49;1.65;2.49;2.49;1.65;2.49;2.49;2.49	5.24	5.24	0.73138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000264	T	0.42854	0.1221	N	0.25201	0.72	0.58432	D	0.999997	D;D;D;D;D	0.89917	0.97;1.0;1.0;1.0;1.0	P;D;D;D;D	0.97110	0.833;0.999;1.0;0.999;0.999	T	0.23797	-1.0178	10	0.36615	T	0.2	-61.9228	17.9608	0.89084	0.0:1.0:0.0:0.0	.	381;381;381;381;381	A6XGM9;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;CTCFL_HUMAN	H	381;381;381;381;381;119;381;381;176;381	ENSP00000415579:D381H;ENSP00000243914:D381H;ENSP00000360239:D381H;ENSP00000415329:D381H;ENSP00000392034:D381H;ENSP00000437999:D119H;ENSP00000413713:D381H;ENSP00000403369:D381H;ENSP00000439998:D176H;ENSP00000399061:D381H	ENSP00000243914:D381H	D	-	1	0	CTCFL	55524215	1.000000	0.71417	0.971000	0.41717	0.530000	0.34684	7.493000	0.81493	2.608000	0.88229	0.650000	0.86243	GAT		0.478	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1		NM_080618		174	105	0	0	0	0.01441	0	174	105		
TAF4	6874	broad.mit.edu	37	20	60582637	60582637	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:60582637G>A	ENST00000252996.4	-	6	1939	c.1940C>T	c.(1939-1941)tCt>tTt	p.S647F	TAF4_ENST00000609045.1_5'Flank	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	647	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TTGAGGTGAAGAATTAAGTTC	0.458																																						uc002ybs.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1939-1941)TCT>TTT		TBP-associated factor 4							204.0	209.0	207.0					20																	60582637		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60582637G>A	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1940C>T	20.37:g.60582637G>A	ENSP00000252996:p.Ser647Phe						p.S647F	NM_003185	NP_003176	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		6	1940	-	Breast(26;1e-08)		647			TAFH.		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.1940C>T	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917627	0.92249	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.47528	0.84;0.84	5.5	5.5	0.81552	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.68421	0.2999	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70510	-0.4852	10	0.87932	D	0	-13.5903	19.366	0.94461	0.0:0.0:1.0:0.0	.	647	O00268	TAF4_HUMAN	F	647;511	ENSP00000252996:S647F;ENSP00000399091:S511F	ENSP00000252996:S647F	S	-	2	0	TAF4	60016032	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.553000	0.98118	2.571000	0.86741	0.655000	0.94253	TCT		0.458	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2		NM_003185		134	75	0	0	0	0.01441	0	134	75		
ARFGAP1	55738	broad.mit.edu	37	20	61910306	61910306	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr20:61910306G>C	ENST00000370283.4	+	7	726	c.586G>C	c.(586-588)Gaa>Caa	p.E196Q	ARFGAP1_ENST00000547204.1_Missense_Mutation_p.E122Q|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.E83Q|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.E143Q|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E196Q|ARFGAP1_ENST00000370275.4_Missense_Mutation_p.E196Q	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	196					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					TCAGAAGAAAGAAGATGACTT	0.597																																						uc002yem.2		NaN																	0				pancreas(1)	1						c.(586-588)GAA>CAA		ADP-ribosylation factor GTPase activating							144.0	122.0	129.0					20																	61910306		2203	4300	6503	SO:0001583	missense	55738				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding	g.chr20:61910306G>C	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.586G>C	20.37:g.61910306G>C	ENSP00000359306:p.Glu196Gln					ARFGAP1_uc011aas.1_Missense_Mutation_p.E143Q|ARFGAP1_uc011aat.1_Missense_Mutation_p.E83Q|ARFGAP1_uc002yel.2_Missense_Mutation_p.E196Q|ARFGAP1_uc002yen.2_Missense_Mutation_p.E196Q	p.E196Q	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN			7	698	+	all_cancers(38;1.59e-09)		196					B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Missense_Mutation	SNP	ENST00000370283.4	37	c.586G>C	CCDS13515.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567114	0.65651	.	.	ENSG00000101199	ENST00000370283;ENST00000547204;ENST00000549047;ENST00000519604;ENST00000519273;ENST00000370275;ENST00000518601;ENST00000353546;ENST00000522403	T;T;T;T;T;T;T;T;T	0.49720	1.44;0.82;0.87;0.85;0.77;1.45;0.89;1.45;1.5	5.22	5.22	0.72569	.	0.222920	0.44483	D	0.000442	T	0.48642	0.1511	L	0.49126	1.545	0.80722	D	1	B;B;B;B;B	0.26512	0.134;0.072;0.151;0.027;0.1	B;B;B;B;B	0.32022	0.067;0.066;0.124;0.018;0.139	T	0.43475	-0.9389	10	0.39692	T	0.17	-21.0584	18.7719	0.91896	0.0:0.0:1.0:0.0	.	83;143;196;196;196	B7Z8H8;E7EV62;B7ZBI2;Q8N6T3;Q8N6T3-2	.;.;.;ARFG1_HUMAN;.	Q	196;122;122;143;83;196;122;196;196	ENSP00000359306:E196Q;ENSP00000449800:E122Q;ENSP00000447037:E122Q;ENSP00000430500:E143Q;ENSP00000443716:E83Q;ENSP00000359298:E196Q;ENSP00000429674:E122Q;ENSP00000314615:E196Q;ENSP00000430929:E196Q	ENSP00000314615:E196Q	E	+	1	0	ARFGAP1	61380751	1.000000	0.71417	0.723000	0.30687	0.950000	0.60333	7.643000	0.83403	2.422000	0.82143	0.462000	0.41574	GAA		0.597	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3		NM_018209		63	23	0	0	0	0.01441	0	63	23		
BAGE2	85319	broad.mit.edu	37	21	11058248	11058248	+	RNA	SNP	G	G	A	rs8130203	byFrequency	TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:11058248G>A	ENST00000470054.1	-	0	399							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAGCACAAGGATAATGATAC	0.433																																						uc002yit.1		NaN																	0					0						c.(190-192)ATC>ATT		B melanoma antigen family, member 2 precursor							80.0	67.0	71.0					21																	11058248		692	1591	2283			85319							g.chr21:11058248G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058248G>A						BAGE_uc002yiw.1_RNA	p.I64I	NM_182482	NP_872288			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	3	400	-								A8K925|Q08ER0	Silent	SNP	ENST00000470054.1	37	c.192C>T																																																																																					0.433	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3		NM_182482		4	133	0	0	0	0.000602	0	4	133		
MX2	4600	broad.mit.edu	37	21	42752066	42752066	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:42752066G>C	ENST00000330714.3	+	4	749	c.565G>C	c.(565-567)Gag>Cag	p.E189Q	MX2_ENST00000543692.1_Intron	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	189	Dynamin-type G.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GGTGGAGAAAGAGATACACAA	0.577																																						uc002yzf.1		NaN																	0				ovary(2)	2						c.(565-567)GAG>CAG		myxovirus resistance protein 2							101.0	93.0	96.0					21																	42752066		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42752066G>C		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.565G>C	21.37:g.42752066G>C	ENSP00000333657:p.Glu189Gln					MX2_uc011aer.1_Intron	p.E189Q	NM_002463	NP_002454	P20592	MX2_HUMAN			4	669	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	189					B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.565G>C	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279684	0.23307	.	.	ENSG00000183486	ENST00000330714	D	0.97186	-4.28	3.91	2.0	0.26442	Dynamin, GTPase domain (2);	0.425981	0.23650	N	0.045932	D	0.96297	0.8792	M	0.82132	2.575	0.09310	N	1	P	0.41159	0.74	P	0.44673	0.457	D	0.90778	0.4677	10	0.37606	T	0.19	-4.9712	9.2001	0.37254	0.0:0.1746:0.667:0.1583	.	189	P20592	MX2_HUMAN	Q	189	ENSP00000333657:E189Q	ENSP00000333657:E189Q	E	+	1	0	MX2	41673936	0.064000	0.20934	0.001000	0.08648	0.003000	0.03518	2.625000	0.46452	0.337000	0.23665	-0.211000	0.12701	GAG		0.577	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1		NM_002463		33	9	0	0	0	0.00874	0	33	9		
RRP1B	23076	broad.mit.edu	37	21	45093792	45093792	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:45093792G>A	ENST00000340648.4	+	4	430	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	105					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CATGAATCGAGAATGGAAAGG	0.408																																						uc002zdk.2		NaN																	0				skin(1)	1						c.(313-315)GAA>AAA		ribosomal RNA processing 1 homolog B							126.0	119.0	121.0					21																	45093792		2203	4300	6503	SO:0001583	missense	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45093792G>A	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.313G>A	21.37:g.45093792G>A	ENSP00000339145:p.Glu105Lys						p.E105K	NM_015056	NP_055871	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	4	427	+			105					Q8TBZ4	Missense_Mutation	SNP	ENST00000340648.4	37	c.313G>A	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	G	33	5.268818	0.95429	.	.	ENSG00000160208	ENST00000340648	T	0.58210	0.35	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.79100	0.4389	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84321	0.0516	10	0.87932	D	0	-3.6966	16.0016	0.80297	0.0:0.0:1.0:0.0	.	105	Q14684	RRP1B_HUMAN	K	105	ENSP00000339145:E105K	ENSP00000339145:E105K	E	+	1	0	RRP1B	43918220	1.000000	0.71417	0.978000	0.43139	0.961000	0.63080	6.804000	0.75186	2.521000	0.84997	0.563000	0.77884	GAA		0.408	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1		NM_015056		40	6	0	0	0	0.013114	0	40	6		
KRTAP10-7	386675	broad.mit.edu	37	21	46020560	46020560	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:46020560G>A	ENST00000380102.2	+	1	64	c.39G>A	c.(37-39)ctG>ctA	p.L13L	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	13						keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CCAGCGACCTGAGCTACGGCA	0.622																																						uc002zfn.3		NaN																	0					0						c.(37-39)CTG>CTA		keratin associated protein 10-7							51.0	61.0	58.0					21																	46020560		2109	4219	6328	SO:0001819	synonymous_variant	386675					keratin filament		g.chr21:46020560G>A	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.39G>A	21.37:g.46020560G>A						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.L13L	NM_198689	NP_941962	P60409	KR107_HUMAN			1	64	+			13					Q0VDJ8|Q70LJ2	Silent	SNP	ENST00000380102.2	37	c.39G>A																																																																																					0.622	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1		NM_198689		24	31	0	0	0	0.012213	0	24	31		
COL6A1	1291	broad.mit.edu	37	21	47419594	47419594	+	Silent	SNP	G	G	A	rs542688326		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:47419594G>A	ENST00000361866.3	+	27	1878	c.1764G>A	c.(1762-1764)ccG>ccA	p.P588P		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	588	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		ACCAAGGACCGCCTGGGCCGG	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12146	0.0		0.0	False		,,,				2504	0.0					uc002zhu.1		NaN																	0				ovary(1)	1						c.(1762-1764)CCG>CCA		collagen, type VI, alpha 1 precursor	Palifermin(DB00039)						55.0	51.0	52.0					21																	47419594		2202	4300	6502	SO:0001819	synonymous_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47419594G>A	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1764G>A	21.37:g.47419594G>A						COL6A1_uc010gqd.1_5'UTR|COL6A1_uc002zhv.1_5'Flank|COL6A1_uc002zhw.1_5'Flank	p.P588P	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	27	1866	+	all_hematologic(128;0.24)		588			Triple-helical region.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	c.1764G>A	CCDS13727.1																																																																																				0.632	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1		NM_001848		17	17	0	0	0	0.010504	0	17	17		
PCNT	5116	broad.mit.edu	37	21	47855826	47855826	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr21:47855826G>A	ENST00000359568.5	+	39	8868	c.8761G>A	c.(8761-8763)Gaa>Aaa	p.E2921K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2921					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCGAGAATTAGAACTGCAGCG	0.527																																						uc002zji.3		NaN																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(8761-8763)GAA>AAA		pericentrin							68.0	72.0	71.0					21																	47855826		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47855826G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8761G>A	21.37:g.47855826G>A	ENSP00000352572:p.Glu2921Lys					PCNT_uc002zjj.2_Missense_Mutation_p.E2724K	p.E2921K	NM_006031	NP_006022	O95613	PCNT_HUMAN			39	8868	+	Breast(49;0.112)		2921			Potential.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.8761G>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380117	0.82682	.	.	ENSG00000160299	ENST00000359568	T	0.01685	4.69	5.43	4.54	0.55810	.	.	.	.	.	T	0.05640	0.0148	L	0.34521	1.04	0.20307	N	0.999917	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.936	T	0.40213	-0.9575	9	0.46703	T	0.11	.	13.5873	0.61940	0.0:0.1556:0.8444:0.0	.	2724;2921	O95613-2;O95613	.;PCNT_HUMAN	K	2921	ENSP00000352572:E2921K	ENSP00000352572:E2921K	E	+	1	0	PCNT	46680254	1.000000	0.71417	0.015000	0.15790	0.415000	0.31203	3.734000	0.55037	1.265000	0.44215	0.467000	0.42956	GAA		0.527	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		NM_006031		20	38	0	0	0	0.012319	0	20	38		
PEX26	55670	broad.mit.edu	37	22	18561373	18561373	+	Splice_Site	SNP	G	G	C	rs267608190		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:18561373G>C	ENST00000329627.7	+	2	436		c.e2+1		PEX26_ENST00000399744.3_Splice_Site|XXbac-B476C20.9_ENST00000426483.1_RNA|XXbac-B476C20.9_ENST00000607927.1_RNA|PEX26_ENST00000428061.2_Splice_Site	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26						protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)	integral component of peroxisomal membrane (GO:0005779)|peroxisome (GO:0005777)	ATPase binding (GO:0051117)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CCGCGGGCACGTACGTGCTGG	0.647																																						uc002znr.2		NaN																	0					0	GRCh37	CS060557	PEX26	S		c.e1+1		tubulin, alpha 8							6.0	7.0	6.0					22																	18561373		2037	4050	6087	SO:0001630	splice_region_variant	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18561373G>C	AB089678	CCDS13750.1, CCDS56221.1	22q11.21	2008-08-26	2008-08-26		ENSG00000215193	ENSG00000215193			22965	protein-coding gene	gene with protein product		608666	"""peroxisome biogenesis factor 26"""			12717447, 12851857	Standard	NM_017929		Approved	FLJ20695	uc002znp.4	Q7Z412	OTTHUMG00000149970	ENST00000329627.7:c.230+1G>C	22.37:g.18561373G>C						PEX26_uc002znp.3_Splice_Site_p.T77_splice|PEX26_uc002znq.3_Splice_Site_p.T77_splice|uc002zns.2_Nonsense_Mutation_p.Y50*|PEX26_uc002znt.2_Splice_Site_p.T77_splice		NM_018943	NP_061816	Q9NY65	TBA8_HUMAN			1	687	+								F6UBB5|Q7Z413|Q7Z414|Q7Z415|Q7Z416|Q96B12|Q9NWQ0|Q9NXU0	Splice_Site	SNP	ENST00000329627.7	37	c.-336_splice	CCDS13750.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126843	0.56721	.	.	ENSG00000215193	ENST00000329627;ENST00000399744;ENST00000428061;ENST00000399746	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.684	0.77393	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PEX26	16941373	0.801000	0.28930	0.966000	0.40874	0.464000	0.32679	2.621000	0.46418	2.467000	0.83353	0.655000	0.94253	.		0.647	PEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314644.3		NM_017929	Intron	5	7	0	0	0	0.001168	0	5	7		
SEPT5	5413	broad.mit.edu	37	22	19709361	19709361	+	Silent	SNP	T	T	C	rs558411158		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:19709361T>C	ENST00000455784.2	+	10	956	c.831T>C	c.(829-831)caT>caC	p.H277H	GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000383045.3_Silent_p.H286H|SEPT5_ENST00000438754.2_Silent_p.L283L|SEPT5_ENST00000406395.1_Silent_p.L274L	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	277	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					ACCAGGCGCATTGCGACTTCG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		16765	0.0		0.001	False		,,,				2504	0.0					uc002zpv.1		NaN																	0				lung(1)	1						c.(829-831)CAT>CAC		septin 5							59.0	58.0	58.0					22																	19709361		2203	4300	6503	SO:0001819	synonymous_variant	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19709361T>C	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.831T>C	22.37:g.19709361T>C						SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_5'UTR|SEPT5_uc002zpz.1_5'Flank	p.H277H	NM_002688	NP_002679	Q99719	SEPT5_HUMAN			10	956	+	Colorectal(54;0.0993)		277					O15251|Q96MY5	Silent	SNP	ENST00000455784.2	37	c.831T>C	CCDS13764.1																																																																																				0.632	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1		NM_002688		7	62	0	0	0	0.001984	0	7	62		
ARVCF	421	broad.mit.edu	37	22	19961739	19961739	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:19961739C>T	ENST00000263207.3	-	12	2275	c.1984G>A	c.(1984-1986)Gag>Aag	p.E662K	ARVCF_ENST00000406259.1_Missense_Mutation_p.E656K|ARVCF_ENST00000344269.3_Missense_Mutation_p.E599K|ARVCF_ENST00000406522.1_Missense_Mutation_p.E593K|ARVCF_ENST00000401994.1_Missense_Mutation_p.E599K	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	662					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CGTACCACCTCGGGCTGGTAC	0.632																																						uc002zqz.2		NaN																	0				liver(1)	1						c.(1984-1986)GAG>AAG		armadillo repeat protein							48.0	46.0	47.0					22																	19961739		2202	4300	6502	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19961739C>T		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1984G>A	22.37:g.19961739C>T	ENSP00000263207:p.Glu662Lys					ARVCF_uc002zqy.2_Missense_Mutation_p.E178K	p.E662K	NM_001670	NP_001661	O00192	ARVC_HUMAN			12	2255	-	Colorectal(54;0.0993)		662			ARM 7.		B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.1984G>A	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124826	0.94429	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	4.68	3.65	0.41850	Armadillo-like helical (1);Armadillo-type fold (1);	0.104253	0.64402	D	0.000005	T	0.72867	0.3514	L	0.42245	1.32	0.58432	D	0.999996	D;D	0.71674	0.995;0.998	D;D	0.67231	0.95;0.935	T	0.71728	-0.4505	9	.	.	.	-15.2664	13.5488	0.61719	0.1571:0.8429:0.0:0.0	.	662;178	O00192;E7EV58	ARVC_HUMAN;.	K	662;599;599;593;656	ENSP00000263207:E662K;ENSP00000342042:E599K;ENSP00000384341:E599K;ENSP00000384732:E593K;ENSP00000385444:E656K	.	E	-	1	0	ARVCF	18341739	1.000000	0.71417	0.968000	0.41197	0.946000	0.59487	5.683000	0.68189	1.320000	0.45209	0.561000	0.74099	GAG		0.632	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5		NM_001670		15	16	0	0	0	0.006122	0	15	16		
SERPIND1	3053	broad.mit.edu	37	22	21133814	21133814	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:21133814G>C	ENST00000215727.5	+	2	497	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.E72Q	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	72	Chemotactic activity.				blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	CTGGATTCCAGAGGGGGAGGA	0.517																																						uc002ztb.1		NaN																	0					0						c.(214-216)GAG>CAG		heparin cofactor II precursor	Ardeparin(DB00407)						70.0	61.0	64.0					22																	21133814		2203	4300	6503	SO:0001583	missense	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21133814G>C	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.214G>C	22.37:g.21133814G>C	ENSP00000215727:p.Glu72Gln					PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.E100Q	p.E72Q	NM_000185	NP_000176	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	281	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	72			Chemotactic activity.		B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	c.214G>C	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125316	0.94429	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.85088	-1.94;-1.94	5.75	5.75	0.90469	.	0.097154	0.64402	D	0.000001	D	0.89319	0.6681	M	0.61703	1.905	0.80722	D	1	D;D	0.63880	0.993;0.993	P;P	0.53266	0.722;0.722	D	0.89816	0.3985	10	0.72032	D	0.01	.	19.9417	0.97165	0.0:0.0:1.0:0.0	.	72;72	Q8IVC0;P05546	.;HEP2_HUMAN	Q	72	ENSP00000215727:E72Q;ENSP00000384050:E72Q	ENSP00000215727:E72Q	E	+	1	0	SERPIND1	19463814	1.000000	0.71417	0.945000	0.38365	0.990000	0.78478	7.591000	0.82666	2.720000	0.93068	0.655000	0.94253	GAG		0.517	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1		NM_000185		23	42	0	0	0	0.007291	0	23	42		
GAL3ST1	9514	broad.mit.edu	37	22	30950948	30950948	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:30950948G>A	ENST00000402321.1	-	3	1581	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W	GAL3ST1_ENST00000443111.2_Missense_Mutation_p.R422W|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.R422W|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.R422W|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.R422W|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.R422W|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.R422W			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	422				R -> E (in Ref. 1; AA sequence). {ECO:0000305}.	galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CGTCACCACCGCAGGAAATCG	0.687																																						uc003aig.1		NaN																	0					0						c.(1264-1266)CGG>TGG		galactose-3-O-sulfotransferase 1							46.0	42.0	43.0					22																	30950948		2203	4300	6503	SO:0001583	missense	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30950948G>A	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.1264C>T	22.37:g.30950948G>A	ENSP00000385735:p.Arg422Trp					GAL3ST1_uc003aih.1_Missense_Mutation_p.R422W|GAL3ST1_uc003aii.1_Missense_Mutation_p.R422W|GAL3ST1_uc010gvz.1_Missense_Mutation_p.R422W	p.R422W	NM_004861	NP_004852	Q99999	G3ST1_HUMAN			4	1404	-			422	R -> E (in Ref. 1; AA sequence).		Lumenal (Potential).		Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	c.1264C>T	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	g	15.42	2.829596	0.50845	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111	T;T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15;2.15	5.73	-0.395	0.12431	.	0.424732	0.26146	N	0.026068	T	0.12518	0.0304	L	0.44542	1.39	0.18873	N	0.999983	D	0.56968	0.978	B	0.36766	0.232	T	0.22977	-1.0201	10	0.72032	D	0.01	-10.2743	6.4654	0.21980	0.0637:0.099:0.3254:0.5119	.	422	Q99999	G3ST1_HUMAN	W	422	ENSP00000385825:R422W;ENSP00000385735:R422W;ENSP00000384122:R422W;ENSP00000384388:R422W;ENSP00000343234:R422W;ENSP00000385207:R422W;ENSP00000402587:R422W	ENSP00000343234:R422W	R	-	1	2	GAL3ST1	29280948	0.957000	0.32711	0.094000	0.20943	0.811000	0.45836	1.356000	0.34079	-0.196000	0.10366	0.561000	0.74099	CGG		0.687	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1		NM_004861		3	22	0	0	0	0.009096	0	3	22		
EIF3L	51386	broad.mit.edu	37	22	38245481	38245481	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:38245481G>A	ENST00000412331.2	+	1	607	c.25G>A	c.(25-27)Gag>Aag	p.E9K	ANKRD54_ENST00000609454.1_5'Flank|EIF3L_ENST00000381683.6_Missense_Mutation_p.E9K|EIF3L_ENST00000406934.1_5'Flank|MIR659_ENST00000384963.1_RNA|EIF3L_ENST00000476955.1_3'UTR	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGATGATTATGAGTCTGAGGT	0.647																																						uc003auf.2		NaN																	0				ovary(1)	1						c.(25-27)GAG>AAG		eukaryotic translation initiation factor 3							110.0	117.0	114.0					22																	38245481		2203	4300	6503	SO:0001583	missense	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38245481G>A	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.25G>A	22.37:g.38245481G>A	ENSP00000416892:p.Glu9Lys					EIF3L_uc003aue.1_Missense_Mutation_p.E9K|EIF3L_uc011ann.1_Missense_Mutation_p.E9K|EIF3L_uc003aug.2_5'Flank|MIR659_hsa-mir-659|MI0003683_5'Flank	p.E9K	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN			1	112	+			9						Missense_Mutation	SNP	ENST00000412331.2	37	c.25G>A	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072132	0.55646	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000414316;ENST00000381683;ENST00000262832	T;T	0.45668	0.92;0.89	5.07	5.07	0.68467	.	0.176284	0.47455	D	0.000236	T	0.27454	0.0674	N	0.08118	0	0.49389	D	0.999781	P;P;P	0.34587	0.458;0.458;0.458	B;B;B	0.39152	0.292;0.292;0.292	T	0.12811	-1.0533	10	0.26408	T	0.33	-36.8356	14.3355	0.66586	0.0:0.0:1.0:0.0	.	9;9;52	B4DYB2;Q9Y262;B0QY89	.;EIF3L_HUMAN;.	K	9;52;9;9;9	ENSP00000416892:E9K;ENSP00000371099:E9K	ENSP00000262832:E9K	E	+	1	0	EIF3L	36575427	1.000000	0.71417	0.999000	0.59377	0.081000	0.17604	4.329000	0.59260	2.503000	0.84419	0.650000	0.86243	GAG		0.647	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2		NM_016091		100	150	0	0	0	0.01441	0	100	150		
SREBF2	6721	broad.mit.edu	37	22	42280950	42280950	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr22:42280950G>C	ENST00000361204.4	+	11	2309	c.2143G>C	c.(2143-2145)Gag>Cag	p.E715Q		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	715					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CACACTGGTTGAGATCCATCT	0.587																																						uc003bbi.2		NaN																	0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(2143-2145)GAG>CAG		sterol regulatory element-binding transcription							128.0	99.0	109.0					22																	42280950		2203	4300	6503	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42280950G>C	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.2143G>C	22.37:g.42280950G>C	ENSP00000354476:p.Glu715Gln					WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	p.E715Q	NM_004599	NP_004590	Q12772	SRBP2_HUMAN			11	2312	+			715			Cytoplasmic (Potential).		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.2143G>C	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899523	0.33535	.	.	ENSG00000198911	ENST00000361204;ENST00000457567	T	0.16324	2.35	4.76	4.76	0.60689	.	0.051953	0.85682	D	0.000000	T	0.15955	0.0384	L	0.40543	1.245	0.50039	D	0.999847	P	0.39391	0.671	B	0.35688	0.208	T	0.04961	-1.0915	10	0.27082	T	0.32	-24.2316	17.7719	0.88495	0.0:0.0:1.0:0.0	.	715	Q12772	SRBP2_HUMAN	Q	715	ENSP00000354476:E715Q	ENSP00000354476:E715Q	E	+	1	0	SREBF2	40610896	1.000000	0.71417	0.958000	0.39756	0.661000	0.39034	4.377000	0.59562	2.219000	0.72066	0.313000	0.20887	GAG		0.587	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1		NM_004599		41	56	0	0	0	0.01441	0	41	56		
MTMR14	64419	broad.mit.edu	37	3	9743604	9743604	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:9743604G>C	ENST00000296003.4	+	19	2022	c.1900G>C	c.(1900-1902)Gag>Cag	p.E634Q	CPNE9_ENST00000383832.3_5'Flank|MTMR14_ENST00000351233.5_Missense_Mutation_p.E522Q|CPNE9_ENST00000383831.3_5'Flank|MTMR14_ENST00000420925.1_Missense_Mutation_p.E276Q|MTMR14_ENST00000353332.5_Missense_Mutation_p.E582Q	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	634					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GGGCCTGCTGGAGCAATTTGC	0.617																																						uc003brz.2		NaN																	0				skin(1)	1						c.(1900-1902)GAG>CAG		jumpy isoform 2							69.0	78.0	75.0					3																	9743604		2018	4190	6208	SO:0001583	missense	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9743604G>C	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.1900G>C	3.37:g.9743604G>C	ENSP00000296003:p.Glu634Gln					MTMR14_uc003bsa.2_Missense_Mutation_p.E582Q|MTMR14_uc003bsb.2_Missense_Mutation_p.E522Q|MTMR14_uc011ath.1_RNA|MTMR14_uc010hcl.2_Missense_Mutation_p.E276Q|MTMR14_uc003bsc.2_RNA|CPNE9_uc003bsd.2_5'Flank	p.E634Q	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN			19	2024	+	Medulloblastoma(99;0.227)		634					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	ENST00000296003.4	37	c.1900G>C	CCDS43043.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214233	0.79352	.	.	ENSG00000163719	ENST00000353332;ENST00000420925;ENST00000296003;ENST00000351233	D	0.97870	-4.58	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	L	0.54323	1.7	0.42150	D	0.991559	D;P;D;D	0.76494	0.999;0.944;0.997;0.997	D;P;D;D	0.80764	0.994;0.72;0.98;0.986	D	0.98501	1.0614	10	0.38643	T	0.18	-7.1153	18.3062	0.90182	0.0:0.0:1.0:0.0	.	276;522;582;634	C9JSR1;Q8NCE2-3;Q8NCE2-2;Q8NCE2	.;.;.;MTMRE_HUMAN	Q	582;276;634;522	ENSP00000401993:E276Q	ENSP00000296003:E634Q	E	+	1	0	MTMR14	9718604	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.001000	0.93568	2.326000	0.78906	0.462000	0.41574	GAG		0.617	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1		NM_022485		49	76	0	0	0	0.01441	0	49	76		
HRH1	3269	broad.mit.edu	37	3	11300932	11300932	+	Missense_Mutation	SNP	C	C	T	rs201217782		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:11300932C>T	ENST00000397056.1	+	3	400	c.209C>T	c.(208-210)tCg>tTg	p.S70L	HRH1_ENST00000431010.2_Missense_Mutation_p.S70L|HRH1_ENST00000438284.2_Missense_Mutation_p.S70L	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	70					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GTCAGCCTCTCGGTGGCGGAC	0.577																																						uc010hdr.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(208-210)TCG>TTG		histamine receptor H1	Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)						149.0	115.0	127.0					3																	11300932		2203	4300	6503	SO:0001583	missense	3269				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity	g.chr3:11300932C>T		CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.209C>T	3.37:g.11300932C>T	ENSP00000380247:p.Ser70Leu					HRH1_uc010hds.2_Missense_Mutation_p.S70L|HRH1_uc010hdt.2_Missense_Mutation_p.S70L|HRH1_uc003bwb.3_Missense_Mutation_p.S70L	p.S70L	NM_001098213	NP_001091683	P35367	HRH1_HUMAN			2	551	+			70			Helical; Name=2; (Potential).		A8K047|Q6P9E5	Missense_Mutation	SNP	ENST00000397056.1	37	c.209C>T	CCDS2604.1	.	.	.	.	.	.	.	.	.	.	C	34	5.356959	0.95854	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.42131	0.98;0.98;0.98	5.98	5.98	0.97165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68284	0.2984	M	0.84948	2.725	0.58432	D	0.999999	D	0.69078	0.997	P	0.60682	0.878	T	0.71922	-0.4446	10	0.87932	D	0	-12.04	20.4434	0.99119	0.0:1.0:0.0:0.0	.	70	P35367	HRH1_HUMAN	L	70	ENSP00000406705:S70L;ENSP00000397028:S70L;ENSP00000380247:S70L	ENSP00000380247:S70L	S	+	2	0	HRH1	11275932	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	7.711000	0.84669	2.838000	0.97847	0.655000	0.94253	TCG		0.577	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251928.2				43	45	0	0	0	0.01441	0	43	45		
NGLY1	55768	broad.mit.edu	37	3	25805630	25805630	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:25805630G>C	ENST00000280700.5	-	3	579	c.419C>G	c.(418-420)tCa>tGa	p.S140*	NGLY1_ENST00000422724.2_Nonsense_Mutation_p.S63*|NGLY1_ENST00000428257.1_Nonsense_Mutation_p.S140*|NGLY1_ENST00000417874.2_Nonsense_Mutation_p.S98*|NGLY1_ENST00000396649.3_Nonsense_Mutation_p.S140*	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	140					glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						ACTGGGATTTGAAGATGGTGT	0.448																																						uc003cdl.2		NaN																	0				breast(1)	1						c.(418-420)TCA>TGA		N-glycanase 1 isoform 1							191.0	170.0	177.0					3																	25805630		2203	4300	6503	SO:0001587	stop_gained	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25805630G>C	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.419C>G	3.37:g.25805630G>C	ENSP00000280700:p.Ser140*					NGLY1_uc010hfg.2_Nonsense_Mutation_p.S140*|NGLY1_uc003cdm.2_Nonsense_Mutation_p.S140*|NGLY1_uc011awo.1_Nonsense_Mutation_p.S98*|NGLY1_uc003cdk.2_RNA	p.S140*	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN			3	527	-			140					B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Nonsense_Mutation	SNP	ENST00000280700.5	37	c.419C>G	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122408	0.37436	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000422724;ENST00000417874;ENST00000427041	.	.	.	5.71	4.81	0.61882	.	0.753423	0.13126	N	0.411831	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-0.3884	8.8104	0.34963	0.0785:0.0:0.7643:0.1572	.	.	.	.	X	140;140;140;137;63;98;63	.	ENSP00000280700:S140X	S	-	2	0	NGLY1	25780634	0.938000	0.31826	0.008000	0.14137	0.042000	0.13812	3.241000	0.51376	1.347000	0.45714	0.655000	0.94253	TCA		0.448	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2				47	55	0	0	0	0.01441	0	47	55		
KIF15	56992	broad.mit.edu	37	3	44835802	44835802	+	Missense_Mutation	SNP	G	G	C	rs200145930		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:44835802G>C	ENST00000326047.4	+	8	882	c.733G>C	c.(733-735)Gag>Cag	p.E245Q	AC098649.1_ENST00000459037.1_RNA	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	245	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AATTACAATAGAGTCAATGGA	0.428																																						uc003cnx.3		NaN																	0				ovary(1)	1						c.(733-735)GAG>CAG		kinesin family member 15							144.0	128.0	134.0					3																	44835802		2203	4300	6503	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44835802G>C	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.733G>C	3.37:g.44835802G>C	ENSP00000324020:p.Glu245Gln					KIF15_uc010hiq.2_Missense_Mutation_p.E148Q	p.E245Q	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	8	882	+			245			Kinesin-motor.		Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.733G>C	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336686	0.81801	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031	T;T	0.75704	-0.96;-0.96	4.8	3.93	0.45458	Kinesin, motor domain (4);	0.000000	0.52532	D	0.000077	T	0.81163	0.4765	L	0.57130	1.785	0.80722	D	1	P	0.46784	0.884	P	0.59424	0.857	T	0.80810	-0.1216	10	0.45353	T	0.12	.	13.5009	0.61454	0.0768:0.0:0.9232:0.0	.	245	Q9NS87	KIF15_HUMAN	Q	245;17;244	ENSP00000324020:E245Q;ENSP00000425499:E17Q	ENSP00000324020:E245Q	E	+	1	0	KIF15	44810806	1.000000	0.71417	0.885000	0.34714	0.847000	0.48162	6.277000	0.72608	1.155000	0.42497	-0.137000	0.14449	GAG		0.428	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2				40	66	0	0	0	0.010771	0	40	66		
SEMA3F	6405	broad.mit.edu	37	3	50222226	50222226	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:50222226G>A	ENST00000002829.3	+	13	1919	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K	SEMA3F_ENST00000413852.1_Missense_Mutation_p.E380K|SEMA3F_ENST00000434342.1_Missense_Mutation_p.E448K	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	479	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CGGGCGCTATGAGGTGCTTTT	0.682																																						uc003cyj.2		NaN																	0				lung(1)|skin(1)	2						c.(1435-1437)GAG>AAG		semaphorin 3F precursor							41.0	35.0	37.0					3																	50222226		2203	4299	6502	SO:0001583	missense	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50222226G>A	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.1435G>A	3.37:g.50222226G>A	ENSP00000002829:p.Glu479Lys					SEMA3F_uc003cyk.2_Missense_Mutation_p.E448K	p.E479K	NM_004186	NP_004177	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	13	1633	+			479			Sema.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	c.1435G>A	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	G	37	6.099035	0.97281	.	.	ENSG00000001617	ENST00000413852;ENST00000002829;ENST00000434342	T;T;T	0.21932	1.98;1.98;1.98	5.21	5.21	0.72293	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	L	0.45137	1.4	0.80722	D	1	P;D	0.76494	0.949;0.999	P;D	0.74674	0.837;0.984	T	0.18967	-1.0320	10	0.72032	D	0.01	.	18.7269	0.91717	0.0:0.0:1.0:0.0	.	448;479	C9JQ85;Q13275	.;SEM3F_HUMAN	K	380;479;448	ENSP00000388931:E380K;ENSP00000002829:E479K;ENSP00000409859:E448K	ENSP00000002829:E479K	E	+	1	0	SEMA3F	50197230	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.432000	0.73400	2.579000	0.87056	0.561000	0.74099	GAG		0.682	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1		NM_004186		15	16	0	0	0	0.006122	0	15	16		
GLT8D1	55830	broad.mit.edu	37	3	52730304	52730304	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:52730304G>A	ENST00000407584.3	-	7	1328	c.478C>T	c.(478-480)Ctg>Ttg	p.L160L	GLT8D1_ENST00000394783.3_Silent_p.L160L|GLT8D1_ENST00000491606.1_Silent_p.L160L|GLT8D1_ENST00000478968.2_Silent_p.L160L|GLT8D1_ENST00000463827.1_5'UTR|GLT8D1_ENST00000266014.5_Silent_p.L160L	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	160						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGGGAACCAGAATTGGCAAG	0.418																																						uc003dfi.3		NaN																	0					0						c.(478-480)CTG>TTG		glycosyltransferase 8 domain containing 1							95.0	86.0	89.0					3																	52730304		2203	4300	6503	SO:0001819	synonymous_variant	55830					integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups	g.chr3:52730304G>A	AY358579	CCDS2862.1	3p21.1	2013-02-22			ENSG00000016864	ENSG00000016864		"""Glycosyltransferase family 8 domain containing"""	24870	protein-coding gene	gene with protein product						12975309	Standard	NM_152932		Approved	AD-017, FLJ14611	uc003dfi.4	Q68CQ7	OTTHUMG00000158759	ENST00000407584.3:c.478C>T	3.37:g.52730304G>A						GLT8D1_uc003dfj.2_Silent_p.L160L|GLT8D1_uc003dfk.2_Silent_p.L160L|GLT8D1_uc003dfl.2_Silent_p.L160L|GLT8D1_uc003dfm.2_Silent_p.L160L|GLT8D1_uc003dfn.2_Silent_p.L160L|GLT8D1_uc003dfo.1_Silent_p.L160L	p.L160L	NM_152932	NP_690909	Q68CQ7	GL8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	6	617	-			160			Lumenal (Potential).		Q7Z4D1|Q8N2J6|Q9P0I5	Silent	SNP	ENST00000407584.3	37	c.478C>T	CCDS2862.1																																																																																				0.418	GLT8D1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352065.3		NM_152932		3	61	0	0	0	0.009096	0	3	61		
ACTR8	93973	broad.mit.edu	37	3	53908332	53908332	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:53908332C>T	ENST00000335754.3	-	8	1071	c.971G>A	c.(970-972)cGa>cAa	p.R324Q	ACTR8_ENST00000482349.1_Missense_Mutation_p.R213Q|ACTR8_ENST00000231909.7_Intron	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	324					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		GAACCCAGCTCGCTGCATTAG	0.398																																						uc003dhd.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(970-972)CGA>CAA		actin-related protein 8							88.0	88.0	88.0					3																	53908332		2203	4300	6503	SO:0001583	missense	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53908332C>T		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.971G>A	3.37:g.53908332C>T	ENSP00000336842:p.Arg324Gln					ACTR8_uc003dhb.2_Intron|ACTR8_uc003dhc.2_Missense_Mutation_p.R213Q	p.R324Q	NM_022899	NP_075050	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	8	1030	-			324					B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	c.971G>A	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	C	35	5.573143	0.96553	.	.	ENSG00000113812	ENST00000335754;ENST00000482349	D;D	0.94280	-3.39;-3.39	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.95108	0.8415	L	0.57536	1.79	0.80722	D	1	D	0.65815	0.995	D	0.63033	0.91	D	0.92874	0.6317	10	0.18710	T	0.47	8.1967	17.9236	0.88975	0.0:1.0:0.0:0.0	.	324	Q9H981	ARP8_HUMAN	Q	324;213	ENSP00000336842:R324Q;ENSP00000419429:R213Q	ENSP00000336842:R324Q	R	-	2	0	ACTR8	53883372	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.467000	0.80930	2.655000	0.90218	0.637000	0.83480	CGA		0.398	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2		NM_022899		29	28	0	0	0	0.013726	0	29	28		
PRICKLE2	166336	broad.mit.edu	37	3	64132939	64132939	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:64132939C>G	ENST00000295902.6	-	7	1812	c.1227G>C	c.(1225-1227)caG>caC	p.Q409H	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.Q465H	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	409					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGGTCTGGTTCTGCTCCATCT	0.612																																						uc003dmf.2		NaN																	0				ovary(4)|skin(1)	5						c.(1225-1227)CAG>CAC		prickle-like 2							79.0	82.0	81.0					3																	64132939		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64132939C>G	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1227G>C	3.37:g.64132939C>G	ENSP00000295902:p.Gln409His						p.Q409H	NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	7	1813	-		Lung NSC(201;0.136)	409					Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.1227G>C	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296440	0.23650	.	.	ENSG00000163637	ENST00000295902	T	0.59502	0.26	5.74	2.98	0.34508	.	0.090495	0.48767	D	0.000180	T	0.41236	0.1150	L	0.36672	1.1	0.34760	D	0.732651	P	0.35600	0.511	B	0.31751	0.135	T	0.49716	-0.8910	10	0.31617	T	0.26	-36.0248	8.2343	0.31616	0.0:0.5845:0.0:0.4155	.	409	Q7Z3G6	PRIC2_HUMAN	H	409	ENSP00000295902:Q409H	ENSP00000295902:Q409H	Q	-	3	2	PRICKLE2	64107979	0.808000	0.29022	1.000000	0.80357	0.681000	0.39784	0.223000	0.17719	0.778000	0.33520	0.491000	0.48974	CAG		0.612	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1		NM_198859		50	73	0	0	0	0.01441	0	50	73		
ROBO2	6092	broad.mit.edu	37	3	77623749	77623749	+	Missense_Mutation	SNP	G	G	T	rs374934705		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:77623749G>T	ENST00000461745.1	+	14	2971	c.2071G>T	c.(2071-2073)Gtc>Ttc	p.V691F	ROBO2_ENST00000487694.3_Missense_Mutation_p.V707F|ROBO2_ENST00000332191.8_Missense_Mutation_p.V691F	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	691	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGATGCCAAAGTCCCGACTGA	0.458																																						uc003dpy.3		NaN																	0				lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(2071-2073)GTC>TTC		roundabout, axon guidance receptor, homolog 2							96.0	86.0	89.0					3																	77623749		1901	4131	6032	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77623749G>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2071G>T	3.37:g.77623749G>T	ENSP00000417164:p.Val691Phe					ROBO2_uc003dpz.2_Missense_Mutation_p.V695F|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.V695F	p.V691F	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	14	2714	+			691			Fibronectin type-III 2.|Extracellular (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.2071G>T	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646169	0.47258	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.57107	0.42;0.42;0.42	5.7	4.83	0.62350	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.169169	0.27302	N	0.019983	T	0.66386	0.2784	L	0.50333	1.59	0.41287	D	0.986954	D;D;D	0.69078	0.992;0.992;0.997	D;D;D	0.70935	0.949;0.971;0.966	T	0.72956	-0.4134	9	0.56958	D	0.05	.	14.9827	0.71321	0.0689:0.0:0.9311:0.0	.	707;691;691	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	F	707;707;711;691;691;412	ENSP00000417335:V707F;ENSP00000417164:V691F;ENSP00000327536:V691F	ENSP00000327536:V691F	V	+	1	0	ROBO2	77706439	1.000000	0.71417	0.997000	0.53966	0.094000	0.18550	5.651000	0.67951	1.415000	0.47037	-0.203000	0.12734	GTC		0.458	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2		XM_031246		3	92	1	0	0.004672	0.004672	0.00475888	3	92		
SENP7	57337	broad.mit.edu	37	3	101060619	101060619	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:101060619G>C	ENST00000394095.2	-	15	2164	c.2111C>G	c.(2110-2112)tCa>tGa	p.S704*	SENP7_ENST00000394091.1_Nonsense_Mutation_p.S540*|SENP7_ENST00000394094.2_Nonsense_Mutation_p.S639*|SENP7_ENST00000358203.3_Nonsense_Mutation_p.S540*|SENP7_ENST00000348610.3_Nonsense_Mutation_p.S671*|SENP7_ENST00000314261.7_Nonsense_Mutation_p.S638*	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	704						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.S704L(1)|p.S638L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATCTGTGTTTGAGGGCTGACA	0.418																																						uc003dut.2		NaN																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)	5						c.(2110-2112)TCA>TGA		sentrin/SUMO-specific protease 7 isoform 1							81.0	69.0	73.0					3																	101060619		2203	4300	6503	SO:0001587	stop_gained	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101060619G>C		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2111C>G	3.37:g.101060619G>C	ENSP00000377655:p.Ser704*					SENP7_uc003duu.2_Nonsense_Mutation_p.S639*|SENP7_uc003duv.2_Nonsense_Mutation_p.S671*|SENP7_uc003duw.2_Nonsense_Mutation_p.S638*|SENP7_uc003dux.2_Nonsense_Mutation_p.S540*	p.S704*	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN			15	2222	-			704					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Nonsense_Mutation	SNP	ENST00000394095.2	37	c.2111C>G	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	G	29.0	4.973044	0.92919	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	.	.	.	5.76	4.89	0.63831	.	1.180990	0.06071	N	0.660116	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	0.0046	14.3477	0.66678	0.0716:0.0:0.9284:0.0	.	.	.	.	X	704;639;638;540;540;671	.	ENSP00000313624:S638X	S	-	2	0	SENP7	102543309	1.000000	0.71417	0.020000	0.16555	0.001000	0.01503	3.807000	0.55591	1.449000	0.47699	-0.218000	0.12543	TCA		0.418	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2		NM_020654		14	22	0	0	0	0.007413	0	14	22		
ATG3	64422	broad.mit.edu	37	3	112255401	112255401	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:112255401C>G	ENST00000283290.5	-	10	1149	c.715G>C	c.(715-717)Gat>Cat	p.D239H	ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000402314.2_Missense_Mutation_p.D239H	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	239					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						TTCACATGATCCTGACTGATG	0.428																																						uc003dzd.2		NaN																	0				ovary(3)	3						c.(715-717)GAT>CAT		Apg3p							233.0	198.0	210.0					3																	112255401		2203	4300	6503	SO:0001583	missense	64422				autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding	g.chr3:112255401C>G		CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"""APG3 autophagy 3-like (S. cerevisiae)"", ""ATG3 autophagy related 3 homolog (S. cerevisiae)"""	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.715G>C	3.37:g.112255401C>G	ENSP00000283290:p.Asp239His					ATG3_uc003dzc.2_Missense_Mutation_p.D239H|ATG3_uc010hqe.2_Missense_Mutation_p.D239H	p.D239H	NM_022488	NP_071933	Q9NT62	ATG3_HUMAN			10	825	-			239					Q6PKC5|Q9H6L9	Missense_Mutation	SNP	ENST00000283290.5	37	c.715G>C	CCDS2966.1	.	.	.	.	.	.	.	.	.	.	.	27.5	4.838868	0.91117	.	.	ENSG00000144848	ENST00000283290;ENST00000402314	.	.	.	5.63	5.63	0.86233	Autophagy-related protein 3 (1);	0.047784	0.85682	D	0.000000	D	0.85517	0.5715	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.99;1.0	D	0.87182	0.2228	9	0.62326	D	0.03	0.0413	19.6811	0.95964	0.0:1.0:0.0:0.0	.	239;239	Q9NT62;Q9NT62-2	ATG3_HUMAN;.	H	239	.	ENSP00000283290:D239H	D	-	1	0	ATG3	113738091	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.684000	0.68197	2.658000	0.90341	0.561000	0.74099	GAT		0.428	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354147.1		NM_022488		35	50	0	0	0	0.003755	0	35	50		
DIRC2	84925	broad.mit.edu	37	3	122552196	122552196	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:122552196A>T	ENST00000261038.5	+	4	1134	c.736A>T	c.(736-738)Aca>Tca	p.T246S		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	246					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)		ATTTTCTGCAACACTAGCTTA	0.393																																						uc003efw.3		NaN																	0					0						c.(736-738)ACA>TCA		disrupted in renal carcinoma 2							149.0	153.0	151.0					3																	122552196		2203	4300	6503	SO:0001583	missense	84925				transport	integral to membrane		g.chr3:122552196A>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.736A>T	3.37:g.122552196A>T	ENSP00000261038:p.Thr246Ser					DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Missense_Mutation_p.T84S	p.T246S	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	4	875	+			246			Helical; (Potential).		A8K561|Q8NBX9	Missense_Mutation	SNP	ENST00000261038.5	37	c.736A>T	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.603224	0.46423	.	.	ENSG00000138463	ENST00000261038	T	0.58652	0.32	5.03	3.84	0.44239	Major facilitator superfamily domain, general substrate transporter (1);	0.384862	0.30392	N	0.009740	T	0.39384	0.1076	N	0.19112	0.55	0.23336	N	0.997886	B	0.09022	0.002	B	0.15052	0.012	T	0.31223	-0.9951	10	0.62326	D	0.03	.	7.9537	0.30029	0.8465:0.0:0.1535:0.0	.	246	Q96SL1	DIRC2_HUMAN	S	246	ENSP00000261038:T246S	ENSP00000261038:T246S	T	+	1	0	DIRC2	124034886	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	4.205000	0.58466	2.117000	0.64856	0.454000	0.30748	ACA		0.393	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2		NM_032839		21	152	0	0	0	0.003954	0	21	152		
SEMA5B	54437	broad.mit.edu	37	3	122646670	122646670	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:122646670G>T	ENST00000357599.3	-	8	1203	c.817C>A	c.(817-819)Cgc>Agc	p.R273S	AC078794.1_ENST00000408284.1_RNA|SEMA5B_ENST00000195173.4_Missense_Mutation_p.R273S|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R327S	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	273	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGGGCAGTGCGAAGCGGTGGC	0.627																																						uc003efz.1		NaN																	0				ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(817-819)CGC>AGC		semaphorin 5B isoform 1							59.0	60.0	59.0					3																	122646670		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122646670G>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.817C>A	3.37:g.122646670G>T	ENSP00000350215:p.Arg273Ser					SEMA5B_uc011bju.1_Missense_Mutation_p.R215S|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R273S|SEMA5B_uc010hro.1_Missense_Mutation_p.R215S|SEMA5B_uc010hrp.1_RNA	p.R273S	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	8	1121	-			273			Extracellular (Potential).|Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.817C>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039632	0.93630	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.53	5.53	0.82687	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	M	0.86573	2.825	0.80722	D	1	P;D;D	0.53885	0.954;0.963;0.963	P;P;P	0.58077	0.742;0.832;0.832	T	0.24297	-1.0164	10	0.87932	D	0	.	14.0515	0.64739	0.0:0.0:0.8397:0.1603	.	215;273;273	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	S	273;273;215;327;273	ENSP00000350215:R273S;ENSP00000195173:R273S;ENSP00000389588:R327S;ENSP00000377208:R273S	ENSP00000195173:R273S	R	-	1	0	SEMA5B	124129360	1.000000	0.71417	0.984000	0.44739	0.981000	0.71138	4.148000	0.58085	2.882000	0.98803	0.655000	0.94253	CGC		0.627	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1		NM_001031702		30	38	1	0	9.9191e-30	0.00874	1.08188e-29	30	38		
RUVBL1	8607	broad.mit.edu	37	3	127842458	127842458	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:127842458G>A	ENST00000322623.5	-	1	209	c.110C>T	c.(109-111)tCa>tTa	p.S37L	RUVBL1_ENST00000417360.1_Missense_Mutation_p.S37L|RUVBL1_ENST00000464873.1_Intron	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	37					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CACAAGCCCTGAGGCCGCCTG	0.667																																						uc003ekh.2		NaN																	0				skin(1)	1						c.(109-111)TCA>TTA		RuvB-like 1							43.0	43.0	43.0					3																	127842458		2203	4300	6503	SO:0001583	missense	8607				cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	g.chr3:127842458G>A	AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.110C>T	3.37:g.127842458G>A	ENSP00000318297:p.Ser37Leu					RUVBL1_uc003ekf.2_Intron|RUVBL1_uc010hss.2_Missense_Mutation_p.S37L	p.S37L	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN		GBM - Glioblastoma multiforme(114;0.181)	1	214	-			37					B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Missense_Mutation	SNP	ENST00000322623.5	37	c.110C>T	CCDS3047.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675684	0.67928	.	.	ENSG00000175792	ENST00000322623;ENST00000417360	T;T	0.64618	-0.11;0.31	4.91	4.91	0.64330	TIP49, C-terminal (1);	0.249612	0.40728	N	0.001038	T	0.67144	0.2862	M	0.86178	2.8	0.49213	D	0.999765	B;B	0.29531	0.071;0.247	B;B	0.24006	0.012;0.05	T	0.70223	-0.4931	10	0.46703	T	0.11	-4.4857	18.103	0.89512	0.0:0.0:1.0:0.0	.	37;37	Q9Y265-2;Q9Y265	.;RUVB1_HUMAN	L	37	ENSP00000318297:S37L;ENSP00000393755:S37L	ENSP00000318297:S37L	S	-	2	0	RUVBL1	129325148	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.966000	0.70395	2.267000	0.75376	0.305000	0.20034	TCA		0.667	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2				22	17	0	0	0	0.003954	0	22	17		
EFCC1	79825	broad.mit.edu	37	3	128758636	128758636	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:128758636C>T	ENST00000480450.1	+	8	1742	c.1742C>T	c.(1741-1743)tCg>tTg	p.S581L	EFCC1_ENST00000436022.2_Missense_Mutation_p.S144L			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	581							calcium ion binding (GO:0005509)										AGACAGCCCTCGGCACCAGCC	0.667																																						uc011bkt.1		NaN																	0					0						c.(1741-1743)TCG>TTG		coiled-coil domain containing 48							50.0	48.0	49.0					3																	128758636		2203	4299	6502	SO:0001583	missense	79825							g.chr3:128758636C>T	AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"""EF-hand domain containing"""	25692	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 73"", ""coiled-coil domain containing 48"""	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1742C>T	3.37:g.128758636C>T	ENSP00000420075:p.Ser581Leu						p.S581L	NM_024768	NP_079044	Q9HA90	CCD48_HUMAN			8	1742	+			581					A8MYE2	Missense_Mutation	SNP	ENST00000480450.1	37	c.1742C>T	CCDS3054.2	.	.	.	.	.	.	.	.	.	.	C	0.080	-1.184730	0.01620	.	.	ENSG00000114654	ENST00000480450;ENST00000436022	T;T	0.40756	1.03;1.02	3.94	-0.321	0.12717	.	1.150610	0.06408	N	0.720045	T	0.18341	0.0440	N	0.04355	-0.22	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.22941	-1.0202	10	0.13108	T	0.6	.	6.0793	0.19933	0.0:0.4704:0.0:0.5296	.	581	Q9HA90	CCD48_HUMAN	L	581;144	ENSP00000420075:S581L;ENSP00000414597:S144L	ENSP00000414597:S144L	S	+	2	0	CCDC48	130241326	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-1.066000	0.03454	0.031000	0.15407	0.491000	0.48974	TCG		0.667	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352832.1		NM_024768		56	48	0	0	0	0.01441	0	56	48		
MRPS22	56945	broad.mit.edu	37	3	139062910	139062910	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:139062910G>C	ENST00000495075.1	+	3	474	c.42G>C	c.(40-42)ttG>ttC	p.L14F	MRPS22_ENST00000465056.1_Missense_Mutation_p.L14F|MRPS22_ENST00000310776.4_Missense_Mutation_p.L14F|MRPS22_ENST00000478464.1_5'Flank			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	14						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						GGAGCCTCTTGAGGAGTTCTC	0.602																																						uc003etb.2		NaN																	0				ovary(2)|skin(1)	3						c.(40-42)TTG>TTC		mitochondrial ribosomal protein S22							51.0	52.0	51.0					3																	139062910		2203	4300	6503	SO:0001583	missense	56945					mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:139062910G>C	AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"""Mitochondrial ribosomal proteins / small subunits"""	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.42G>C	3.37:g.139062910G>C	ENSP00000418008:p.Leu14Phe					MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Missense_Mutation_p.L14F|MRPS22_uc003ete.2_5'Flank	p.L14F	NM_020191	NP_064576	P82650	RT22_HUMAN			1	50	+			14					Q9H3I1	Missense_Mutation	SNP	ENST00000495075.1	37	c.42G>C	CCDS3107.1	.	.	.	.	.	.	.	.	.	.	G	7.482	0.648836	0.14516	.	.	ENSG00000175110	ENST00000495075;ENST00000310776;ENST00000465056;ENST00000465373	D;D;D;T	0.83755	-1.76;-1.76;-1.76;-1.2	4.01	1.1	0.20463	.	1.047520	0.07621	N	0.926963	T	0.65749	0.2721	N	0.14661	0.345	0.09310	N	1	B;B	0.32467	0.372;0.255	B;B	0.31337	0.128;0.06	T	0.51624	-0.8682	10	0.13470	T	0.59	1.0E-4	5.925	0.19108	0.1084:0.3798:0.5118:0.0	.	14;14	G5E9V5;P82650	.;RT22_HUMAN	F	14;14;14;10	ENSP00000418008:L14F;ENSP00000310785:L14F;ENSP00000418233:L14F;ENSP00000419920:L10F	ENSP00000310785:L14F	L	+	3	2	MRPS22	140545600	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.409000	0.21082	0.105000	0.17753	0.591000	0.81541	TTG		0.602	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358120.1		NM_020191		20	30	0	0	0	0.003954	0	20	30		
ZBTB38	253461	broad.mit.edu	37	3	141162438	141162438	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:141162438G>C	ENST00000514251.1	+	4	1487	c.1208G>C	c.(1207-1209)gGa>gCa	p.G403A	ZBTB38_ENST00000321464.5_Missense_Mutation_p.G404A|ZBTB38_ENST00000441582.2_Missense_Mutation_p.G403A					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CCCATTCCTGGAGGAAACCAA	0.428																																						uc003etw.2		NaN																	0				ovary(3)	3						c.(1207-1209)GGA>GCA		zinc finger and BTB domain containing 38							119.0	116.0	117.0					3																	141162438		1909	4112	6021	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141162438G>C	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1208G>C	3.37:g.141162438G>C	ENSP00000426387:p.Gly403Ala					ZBTB38_uc010hun.2_Missense_Mutation_p.G400A|ZBTB38_uc010huo.2_Missense_Mutation_p.G403A|ZBTB38_uc003ety.2_Missense_Mutation_p.G403A|ZBTB38_uc010hup.2_Missense_Mutation_p.G404A	p.G403A	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			8	2190	+			403						Missense_Mutation	SNP	ENST00000514251.1	37	c.1208G>C	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	1.072	-0.669554	0.03403	.	.	ENSG00000177311	ENST00000509883;ENST00000514251;ENST00000441582;ENST00000321464	T;T;T;T	0.08282	3.55;3.11;3.11;3.12	5.8	4.9	0.64082	.	0.429526	0.24301	N	0.039735	T	0.03827	0.0108	N	0.08118	0	0.09310	N	1	B;B	0.30406	0.278;0.031	B;B	0.27887	0.084;0.006	T	0.43180	-0.9407	9	.	.	.	-17.3739	7.7313	0.28789	0.1343:0.0:0.7309:0.1349	.	404;403	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	A	403;403;403;404	ENSP00000424254:G403A;ENSP00000426387:G403A;ENSP00000406955:G403A;ENSP00000372635:G404A	.	G	+	2	0	ZBTB38	142645128	0.110000	0.22057	0.342000	0.25602	0.913000	0.54294	1.370000	0.34238	2.741000	0.93983	0.650000	0.86243	GGA		0.428	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2				47	51	0	0	0	0.01441	0	47	51		
SPTSSB	165679	broad.mit.edu	37	3	161064103	161064103	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:161064103C>G	ENST00000359175.4	-	3	1579	c.9G>C	c.(7-9)ttG>ttC	p.L3F	SPTSSB_ENST00000497137.1_Missense_Mutation_p.L3F	NM_001040100.1	NP_001035189.1	Q8NFR3	SPTSB_HUMAN	serine palmitoyltransferase, small subunit B	3					sphingolipid biosynthetic process (GO:0030148)	integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)											TCACACGCCTCAAATCCATGG	0.403																																						uc003fee.2		NaN																	0					0						c.(7-9)TTG>TTC		ADMP							67.0	66.0	66.0					3																	161064103		2203	4300	6503	SO:0001583	missense	165679				sphingolipid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	protein binding	g.chr3:161064103C>G	AF458592	CCDS33887.1	3q26.1	2011-07-26	2011-07-26	2011-07-26	ENSG00000196542	ENSG00000196542			24045	protein-coding gene	gene with protein product	"""androgen down regulated in mouse prostate"", ""small subunit of serine palmitoyltransferase B"""	610412	"""chromosome 3 open reading frame 57"""	C3orf57		15777716, 19416851	Standard	NM_001040100		Approved	ADMP, ssSPTb	uc003fee.3	Q8NFR3	OTTHUMG00000159073	ENST00000359175.4:c.9G>C	3.37:g.161064103C>G	ENSP00000352097:p.Leu3Phe						p.L3F	NM_001040100	NP_001035189	Q8NFR3	SSPTB_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		3	783	-			3			Cytoplasmic (Potential).		B2R5D3|D3DNM8|Q0P5S6	Missense_Mutation	SNP	ENST00000359175.4	37	c.9G>C	CCDS33887.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.739319	0.00681	.	.	ENSG00000196542	ENST00000359175;ENST00000497137	.	.	.	6.17	2.24	0.28232	.	0.447280	0.26109	N	0.026296	T	0.16981	0.0408	.	.	.	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.17410	-1.0370	8	0.14656	T	0.56	-12.0944	5.2287	0.15410	0.1043:0.3599:0.4203:0.1155	.	3	Q8NFR3	SPTSB_HUMAN	F	3	.	ENSP00000352097:L3F	L	-	3	2	SPTSSB	162546797	0.996000	0.38824	0.878000	0.34440	0.066000	0.16364	0.343000	0.19944	0.928000	0.37168	-0.165000	0.13383	TTG		0.403	SPTSSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353181.1		NM_145035		24	33	0	0	0	0.008361	0	24	33		
MECOM	2122	broad.mit.edu	37	3	168830619	168830619	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:168830619C>G	ENST00000464456.1	-	8	3169	c.1969G>C	c.(1969-1971)Gag>Cag	p.E657Q	MECOM_ENST00000392736.3_Missense_Mutation_p.E657Q|MECOM_ENST00000460814.1_Missense_Mutation_p.E657Q|MECOM_ENST00000494292.1_Missense_Mutation_p.E845Q|MECOM_ENST00000468789.1_Missense_Mutation_p.E657Q|MECOM_ENST00000472280.1_Missense_Mutation_p.E658Q|MECOM_ENST00000433243.2_Missense_Mutation_p.E658Q|MECOM_ENST00000264674.3_Missense_Mutation_p.E722Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AAGTATTTCTCTTTTAAAGCT	0.353																																						uc003ffi.3		NaN																	0				lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(1969-1971)GAG>CAG		MDS1 and EVI1 complex locus isoform b							165.0	178.0	173.0					3																	168830619		2203	4300	6503	SO:0001583	missense	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168830619C>G	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1969G>C	3.37:g.168830619C>G	ENSP00000419770:p.Glu657Gln					MECOM_uc010hwk.1_Missense_Mutation_p.E680Q|MECOM_uc003ffj.3_Missense_Mutation_p.E722Q|MECOM_uc011bpi.1_Missense_Mutation_p.E658Q|MECOM_uc003ffn.3_Missense_Mutation_p.E657Q|MECOM_uc003ffk.2_Missense_Mutation_p.E657Q|MECOM_uc003ffl.2_Missense_Mutation_p.E817Q|MECOM_uc011bpj.1_Missense_Mutation_p.E845Q|MECOM_uc011bpk.1_Missense_Mutation_p.E647Q|MECOM_uc010hwn.2_Missense_Mutation_p.E845Q	p.E657Q	NM_005241	NP_005232	Q03112	EVI1_HUMAN			8	2238	-			657					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.1969G>C	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	32	5.162159	0.94727	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000492586	T;T;T;T;T;T;T;T;T	0.11604	3.38;3.37;3.33;3.47;3.3;3.37;3.33;3.47;2.76	6.17	6.17	0.99709	.	0.081247	0.52532	D	0.000070	T	0.26882	0.0658	L	0.55990	1.75	0.58432	D	0.999996	D;D;D;D;P	0.57899	0.981;0.976;0.967;0.976;0.932	P;P;P;P;P	0.56563	0.801;0.675;0.637;0.675;0.476	T	0.00005	-1.2538	10	0.48119	T	0.1	-18.3505	20.8794	0.99867	0.0:1.0:0.0:0.0	.	845;658;845;722;657	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	Q	722;657;657;658;845;657;657;658;308	ENSP00000264674:E722Q;ENSP00000376493:E657Q;ENSP00000419770:E657Q;ENSP00000420048:E658Q;ENSP00000417899:E845Q;ENSP00000419995:E657Q;ENSP00000420466:E657Q;ENSP00000394302:E658Q;ENSP00000417506:E308Q	ENSP00000264674:E722Q	E	-	1	0	MECOM	170313313	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.000000	0.76290	2.941000	0.99782	0.655000	0.94253	GAG		0.353	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1		NM_005241, NM_004991		28	43	0	0	0	0.004878	0	28	43		
KLHL6	89857	broad.mit.edu	37	3	183273151	183273151	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:183273151G>T	ENST00000341319.3	-	1	326	c.291C>A	c.(289-291)ttC>ttA	p.F97L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	97	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ATGCTGACCTGAAATAGTTGC	0.502																																						uc003flr.2		NaN																	0				haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(289-291)TTC>TTA		kelch-like 6							80.0	71.0	74.0					3																	183273151		2203	4300	6503	SO:0001583	missense	89857							g.chr3:183273151G>T	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.291C>A	3.37:g.183273151G>T	ENSP00000341342:p.Phe97Leu					KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Missense_Mutation_p.F95L	p.F97L	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		1	349	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		97			BTB.		B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	c.291C>A	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387910	0.82902	.	.	ENSG00000172578	ENST00000341319	D	0.84944	-1.92	5.52	5.52	0.82312	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.92635	0.7660	M	0.90369	3.11	0.58432	D	0.999996	D	0.89917	1.0	D	0.74674	0.984	D	0.93276	0.6656	10	0.87932	D	0	.	10.0401	0.42153	0.1492:0.0:0.8508:0.0	.	97	Q8WZ60	KLHL6_HUMAN	L	97	ENSP00000341342:F97L	ENSP00000341342:F97L	F	-	3	2	KLHL6	184755845	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.058000	0.64300	2.604000	0.88044	0.650000	0.86243	TTC		0.502	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1		NM_130446		43	72	1	0	2.01807e-28	0.01441	2.19627e-28	43	72		
C3orf70	285382	broad.mit.edu	37	3	184870595	184870595	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr3:184870595G>A	ENST00000335012.2	-	1	207	c.17C>T	c.(16-18)tCg>tTg	p.S6L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716																																						uc003fpd.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)		0						c.(16-18)TCG>TTG		hypothetical protein LOC285382							16.0	17.0	17.0					3																	184870595		2196	4292	6488	SO:0001583	missense	285382							g.chr3:184870595G>A		CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.17C>T	3.37:g.184870595G>A	ENSP00000334974:p.Ser6Leu						p.S6L	NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN			1	208	-			6					B2RNY2|B9EH83	Missense_Mutation	SNP	ENST00000335012.2	37	c.17C>T	CCDS33900.1	.	.	.	.	.	.	.	.	.	.	G	7.421	0.636714	0.14386	.	.	ENSG00000187068	ENST00000335012	.	.	.	2.01	2.01	0.26516	.	0.281820	0.29692	N	0.011445	T	0.20577	0.0495	N	0.08118	0	0.24817	N	0.992606	B	0.18013	0.025	B	0.08055	0.003	T	0.16364	-1.0405	9	0.22109	T	0.4	.	11.538	0.50651	0.0:0.0:1.0:0.0	.	6	A6NLC5	CC070_HUMAN	L	6	.	ENSP00000334974:S6L	S	-	2	0	C3orf70	186353289	0.741000	0.28217	0.135000	0.22099	0.031000	0.12232	2.664000	0.46783	0.951000	0.37770	0.195000	0.17529	TCG		0.716	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1		NM_001025266		15	19	0	0	0	0.006122	0	15	19		
TACC3	10460	broad.mit.edu	37	4	1737475	1737475	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1737475G>T	ENST00000313288.4	+	8	1768	c.1662G>T	c.(1660-1662)ttG>ttT	p.L554F		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	554					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AGTCGGCCTTGAGGAAGCAGT	0.607																																					Ovarian(120;482 2294 11894 35824)	uc003gdo.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1660-1662)TTG>TTT		transforming, acidic coiled-coil containing							145.0	117.0	127.0					4																	1737475		2203	4300	6503	SO:0001583	missense	10460					centrosome		g.chr4:1737475G>T	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1662G>T	4.37:g.1737475G>T	ENSP00000326550:p.Leu554Phe					TACC3_uc010ibz.2_Missense_Mutation_p.L554F|TACC3_uc003gdp.2_Missense_Mutation_p.L194F|TACC3_uc010ica.2_5'UTR	p.L554F	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		8	1770	+		Breast(71;0.212)|all_epithelial(65;0.241)	554					Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	c.1662G>T	CCDS3352.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.21|13.21	2.169994|2.169994	0.38315|0.38315	.|.	.|.	ENSG00000013810|ENSG00000013810	ENST00000470136|ENST00000313288	.|T	.|0.17370	.|2.28	5.27|5.27	4.42|4.42	0.53409|0.53409	.|.	.|0.172585	.|0.24909	.|N	.|0.034621	.|T	.|0.33352	.|0.0860	M|M	0.74647|0.74647	2.275|2.275	0.45567|0.45567	D|D	0.998512|0.998512	.|D;B	.|0.59357	.|0.985;0.449	.|P;B	.|0.59546	.|0.859;0.303	.|T	.|0.05273	.|-1.0895	.|9	.|.	.|.	.|.	-10.6503|-10.6503	7.4009|7.4009	0.26962|0.26962	0.0775:0.0:0.6224:0.3|0.0775:0.0:0.6224:0.3	.|.	.|554;554	.|B4DYJ1;Q9Y6A5	.|.;TACC3_HUMAN	X|F	191|554	.|ENSP00000326550:L554F	.|.	E|L	+|+	1|3	0|2	TACC3|TACC3	1707273|1707273	1.000000|1.000000	0.71417|0.71417	0.817000|0.817000	0.32601|0.32601	0.263000|0.263000	0.26337|0.26337	1.756000|1.756000	0.38390|0.38390	1.206000|1.206000	0.43276|0.43276	0.645000|0.645000	0.84053|0.84053	GAG|TTG		0.607	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2				518	302	1	0	1.79414998630790e-318	0.01441	1.97878231815878e-318	518	302		
FGFR3	2261	broad.mit.edu	37	4	1803377	1803377	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1803377G>A	ENST00000260795.2	+	5	748	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	FGFR3_ENST00000412135.2_Missense_Mutation_p.E216K|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.E216K|FGFR3_ENST00000352904.1_Missense_Mutation_p.E216K|FGFR3_ENST00000440486.2_Missense_Mutation_p.E216K|FGFR3_ENST00000340107.4_Missense_Mutation_p.E216K			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	216	Ig-like C2-type 2.				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)			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)	CCTGGTCATGGAAAGCGTGGT	0.677		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		0				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						c.(646-648)GAA>AAA		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						38.0	27.0	31.0					4																	1803377		2200	4296	6496	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.chr4:1803377G>A	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.646G>A	4.37:g.1803377G>A	ENSP00000260795:p.Glu216Lys					FGFR3_uc003gdu.2_Missense_Mutation_p.E216K|FGFR3_uc003gds.3_Missense_Mutation_p.E216K|FGFR3_uc003gdq.3_Missense_Mutation_p.E216K|FGFR3_uc010icb.1_Missense_Mutation_p.E58K|FGFR3_uc003gdt.1_Missense_Mutation_p.E58K	p.E216K	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)		6	902	+		Breast(71;0.212)|all_epithelial(65;0.241)	216			Extracellular (Potential).|Ig-like C2-type 2.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.646G>A	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.464018	0.84425	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000507588	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	3.64	3.64	0.41730	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74344	0.3704	L	0.41573	1.285	0.22562	N	0.998986	D;D;D;D;D;D	0.89917	0.998;1.0;0.991;0.999;0.999;0.999	D;D;D;D;D;D	0.80764	0.924;0.993;0.923;0.994;0.981;0.976	T	0.67593	-0.5631	10	0.51188	T	0.08	.	15.6231	0.76824	0.0:0.0:1.0:0.0	.	179;216;216;216;216;216	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	K	216;216;216;216;216;216;36	ENSP00000420533:E216K;ENSP00000339824:E216K;ENSP00000414914:E216K;ENSP00000412903:E216K;ENSP00000260795:E216K;ENSP00000231803:E216K;ENSP00000427289:E36K	ENSP00000260795:E216K	E	+	1	0	FGFR3	1773175	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.424000	0.80242	1.739000	0.51704	0.436000	0.28706	GAA		0.677	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		16	288	0	0	0	0.014323	0	16	288		
FGFR3	2261	broad.mit.edu	37	4	1803395	1803395	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1803395G>A	ENST00000260795.2	+	5	766	c.664G>A	c.(664-666)Gac>Aac	p.D222N	FGFR3_ENST00000412135.2_Missense_Mutation_p.D222N|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.D222N|FGFR3_ENST00000352904.1_Missense_Mutation_p.D222N|FGFR3_ENST00000440486.2_Missense_Mutation_p.D222N|FGFR3_ENST00000340107.4_Missense_Mutation_p.D222N			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	222	Ig-like C2-type 2.				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)			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)	GGTGCCCTCGGACCGCGGCAA	0.692		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		0				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						c.(664-666)GAC>AAC		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						39.0	28.0	32.0					4																	1803395		2201	4296	6497	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.chr4:1803395G>A	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.664G>A	4.37:g.1803395G>A	ENSP00000260795:p.Asp222Asn					FGFR3_uc003gdu.2_Missense_Mutation_p.D222N|FGFR3_uc003gds.3_Missense_Mutation_p.D222N|FGFR3_uc003gdq.3_Missense_Mutation_p.D222N|FGFR3_uc010icb.1_Missense_Mutation_p.D64N|FGFR3_uc003gdt.1_Missense_Mutation_p.D64N	p.D222N	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)		6	920	+		Breast(71;0.212)|all_epithelial(65;0.241)	222			Extracellular (Potential).|Ig-like C2-type 2.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.664G>A	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	g	32	5.169385	0.94768	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000507588	T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	3.79	3.79	0.43588	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.048428	0.85682	D	0.000000	D	0.91683	0.7371	M	0.92738	3.34	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.975;0.991;0.987;0.997;0.994;0.996	D	0.94120	0.7378	10	0.87932	D	0	.	15.9653	0.79966	0.0:0.0:1.0:0.0	.	185;222;222;222;222;222	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	N	222;222;222;222;222;222;42	ENSP00000420533:D222N;ENSP00000339824:D222N;ENSP00000414914:D222N;ENSP00000412903:D222N;ENSP00000260795:D222N;ENSP00000231803:D222N;ENSP00000427289:D42N	ENSP00000260795:D222N	D	+	1	0	FGFR3	1773193	1.000000	0.71417	0.813000	0.32504	0.846000	0.48090	9.309000	0.96252	1.819000	0.53055	0.436000	0.28706	GAC		0.692	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		15	292	0	0	0	0.00278	0	15	292		
FGFR3	2261	broad.mit.edu	37	4	1803435	1803435	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNASeq			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1803435G>A	ENST00000260795.2	+	5	806	c.704G>A	c.(703-705)gGc>gAc	p.G235D	FGFR3_ENST00000412135.2_Missense_Mutation_p.G235D|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.G235D|FGFR3_ENST00000352904.1_Missense_Mutation_p.G235D|FGFR3_ENST00000440486.2_Missense_Mutation_p.G235D|FGFR3_ENST00000340107.4_Missense_Mutation_p.G235D			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	235	Ig-like C2-type 2.				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)			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)	AACAAGTTTGGCAGCATCCGG	0.697		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		0				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						c.(703-705)GGC>GAC		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						36.0	27.0	30.0					4																	1803435		2200	4299	6499	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.chr4:1803435G>A	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.704G>A	4.37:g.1803435G>A	ENSP00000260795:p.Gly235Asp					FGFR3_uc003gdu.2_Missense_Mutation_p.G235D|FGFR3_uc003gds.3_Missense_Mutation_p.G235D|FGFR3_uc003gdq.3_Missense_Mutation_p.G235D|FGFR3_uc010icb.1_Missense_Mutation_p.G77D|FGFR3_uc003gdt.1_Missense_Mutation_p.G77D	p.G235D	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)		6	960	+		Breast(71;0.212)|all_epithelial(65;0.241)	235			Extracellular (Potential).|Ig-like C2-type 2.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.704G>A	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	g	15.92	2.975960	0.53720	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000507588	T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	3.94	3.09	0.35607	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87478	0.6187	M	0.91459	3.21	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.994;0.996;0.994;0.998;0.998;0.997	D	0.88362	0.2988	10	0.62326	D	0.03	.	11.5934	0.50959	0.0904:0.0:0.9096:0.0	.	198;235;235;235;235;235	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	D	235;235;235;235;235;235;55	ENSP00000420533:G235D;ENSP00000339824:G235D;ENSP00000414914:G235D;ENSP00000412903:G235D;ENSP00000260795:G235D;ENSP00000231803:G235D;ENSP00000427289:G55D	ENSP00000260795:G235D	G	+	2	0	FGFR3	1773233	1.000000	0.71417	0.995000	0.50966	0.015000	0.08874	9.309000	0.96252	0.765000	0.33221	-0.436000	0.05848	GGC		0.697	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		9	270	0	0	0	0.010729	0	9	270		
NELFA	7469	broad.mit.edu	37	4	1985607	1985607	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1985607G>A	ENST00000411638.2	-	9	1285	c.1270C>T	c.(1270-1272)Cag>Tag	p.Q424*	MIR943_ENST00000401286.1_RNA|NELFA_ENST00000542778.1_Nonsense_Mutation_p.Q289*|NELFA_ENST00000382882.3_Nonsense_Mutation_p.Q435*	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	424					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										GGCTGCTGCTGAGCAGGGGCC	0.672																																						uc003gem.2		NaN																	0				skin(1)	1						c.(1303-1305)CAG>TAG		Wolf-Hirschhorn syndrome candidate 2 protein							53.0	51.0	52.0					4																	1985607		2203	4300	6503	SO:0001587	stop_gained	7469				multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm		g.chr4:1985607G>A	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1270C>T	4.37:g.1985607G>A	ENSP00000399165:p.Gln424*					WHSC2_uc003gek.2_Nonsense_Mutation_p.Q161*|WHSC2_uc003gel.2_Nonsense_Mutation_p.Q349*|WHSC2_uc003gen.2_Nonsense_Mutation_p.Q289*	p.Q435*	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0155)		9	1543	-			424					A2A2T1|O95392	Nonsense_Mutation	SNP	ENST00000411638.2	37	c.1303C>T		.	.	.	.	.	.	.	.	.	.	G	47	13.693602	0.99758	.	.	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638	.	.	.	4.79	4.79	0.61399	.	0.063541	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-28.7589	17.8266	0.88667	0.0:0.0:1.0:0.0	.	.	.	.	X	435;428;289;424	.	ENSP00000372335:Q435X	Q	-	1	0	WHSC2	1955405	1.000000	0.71417	0.982000	0.44146	0.658000	0.38924	7.347000	0.79356	2.227000	0.72691	0.462000	0.41574	CAG		0.672	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1		NM_005663		58	39	0	0	0	0.01441	0	58	39		
POLN	353497	broad.mit.edu	37	4	2129877	2129877	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:2129877C>G	ENST00000511885.2	-	19	2298	c.1945G>C	c.(1945-1947)Gaa>Caa	p.E649Q	POLN_ENST00000382865.1_Missense_Mutation_p.E649Q			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	649					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TCATCTCTTTCAGATTCCTGG	0.373								DNA polymerases (catalytic subunits)																														uc003ger.2		NaN																	0				kidney(2)|ovary(1)|skin(1)	4						c.(1945-1947)GAA>CAA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase nu							77.0	76.0	77.0					4																	2129877		2203	4300	6503	SO:0001583	missense	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2129877C>G	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1945G>C	4.37:g.2129877C>G	ENSP00000435506:p.Glu649Gln					POLN_uc010icg.1_Missense_Mutation_p.E97Q|POLN_uc010ich.1_Missense_Mutation_p.E181Q	p.E649Q	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		17	1945	-			649					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.1945G>C	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090732	0.36855	.	.	ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857	D;D	0.96856	-4.15;-4.15	5.19	5.19	0.71726	DNA-directed DNA polymerase, family A, palm domain (2);	0.159483	0.42420	D	0.000701	D	0.94945	0.8365	L	0.45470	1.425	0.40649	D	0.982018	P;B;B	0.49635	0.926;0.432;0.048	P;B;B	0.47891	0.56;0.257;0.141	D	0.93831	0.7128	10	0.29301	T	0.29	-10.4202	14.5632	0.68156	0.0:1.0:0.0:0.0	.	180;340;649	C9JDP8;E9PE06;Q7Z5Q5	.;.;DPOLN_HUMAN	Q	649;649;340;180	ENSP00000435506:E649Q;ENSP00000372316:E649Q	ENSP00000253313:E340Q	E	-	1	0	POLN	2099675	0.928000	0.31464	0.961000	0.40146	0.968000	0.65278	4.424000	0.59868	2.590000	0.87494	0.655000	0.94253	GAA		0.373	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2		NM_181808		40	25	0	0	0	0.01441	0	40	25		
POLN	353497	broad.mit.edu	37	4	2130961	2130961	+	Silent	SNP	C	C	G	rs183922572		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:2130961C>G	ENST00000511885.2	-	18	2165	c.1812G>C	c.(1810-1812)acG>acC	p.T604T	POLN_ENST00000382865.1_Silent_p.T604T			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	604					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TCGGGGAGATCGTGAGAATCT	0.393								DNA polymerases (catalytic subunits)					C|||	1	0.000199681	0.0	0.0014	5008	,	,		14642	0.0		0.0	False		,,,				2504	0.0					uc003ger.2		NaN																	0				kidney(2)|ovary(1)|skin(1)	4						c.(1810-1812)ACG>ACC	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase nu							142.0	127.0	132.0					4																	2130961		2203	4300	6503	SO:0001819	synonymous_variant	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2130961C>G	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1812G>C	4.37:g.2130961C>G						POLN_uc010icg.1_Silent_p.T52T|POLN_uc010ich.1_Silent_p.T136T	p.T604T	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		16	1812	-			604					A2A336|B4E158|Q4TTW4|Q6ZNF4	Silent	SNP	ENST00000511885.2	37	c.1812G>C	CCDS3360.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	2.315	-0.356922	0.05138	.	.	ENSG00000130997	ENST00000511098	.	.	.	4.54	-6.38	0.01957	.	.	.	.	.	T	0.15696	0.0378	.	.	.	0.24373	N	0.994826	.	.	.	.	.	.	T	0.24261	-1.0165	4	.	.	.	-2.9723	1.0743	0.01629	0.1828:0.3226:0.1714:0.3232	.	.	.	.	P	237	.	.	R	-	2	0	POLN	2100759	0.021000	0.18746	0.009000	0.14445	0.038000	0.13279	-1.318000	0.02705	-1.326000	0.02266	-2.520000	0.00184	CGA		0.393	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2		NM_181808		63	46	0	0	0	0.01441	0	63	46		
POLN	353497	broad.mit.edu	37	4	2130975	2130975	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:2130975C>T	ENST00000511885.2	-	18	2151	c.1798G>A	c.(1798-1800)Gac>Aac	p.D600N	POLN_ENST00000382865.1_Missense_Mutation_p.D600N			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	600					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			AGAATCTTGTCTTCTTTACCT	0.378								DNA polymerases (catalytic subunits)																														uc003ger.2		NaN																	0				kidney(2)|ovary(1)|skin(1)	4						c.(1798-1800)GAC>AAC	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase nu							136.0	123.0	127.0					4																	2130975		2203	4300	6503	SO:0001583	missense	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2130975C>T	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1798G>A	4.37:g.2130975C>T	ENSP00000435506:p.Asp600Asn					POLN_uc010icg.1_Missense_Mutation_p.D48N|POLN_uc010ich.1_Missense_Mutation_p.D132N	p.D600N	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		16	1798	-			600					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.1798G>A	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997875	0.35226	.	.	ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313;ENST00000382857	T;T	0.08807	3.05;3.05	4.67	4.67	0.58626	DNA-directed DNA polymerase, family A, palm domain (1);	0.527132	0.19542	N	0.111780	T	0.13970	0.0338	L	0.46157	1.445	0.28422	N	0.91767	P;P;P	0.48998	0.488;0.485;0.918	B;B;P	0.49140	0.076;0.317;0.601	T	0.01819	-1.1267	10	0.62326	D	0.03	-1.1806	13.4096	0.60935	0.0:1.0:0.0:0.0	.	131;291;600	C9JDP8;E9PE06;Q7Z5Q5	.;.;DPOLN_HUMAN	N	600;600;291;131	ENSP00000435506:D600N;ENSP00000372316:D600N	ENSP00000253313:D291N	D	-	1	0	POLN	2100773	0.596000	0.26866	0.901000	0.35422	0.388000	0.30384	1.203000	0.32284	2.311000	0.77944	0.650000	0.86243	GAC		0.378	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2		NM_181808		40	38	0	0	0	0.01441	0	40	38		
HTT	3064	broad.mit.edu	37	4	3241734	3241734	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:3241734A>G	ENST00000355072.5	+	67	9522	c.9377A>G	c.(9376-9378)tAt>tGt	p.Y3126C		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	3126					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGAAGCCCATATCACCGGCTG	0.602																																						uc011bvq.1		NaN																	0				skin(2)|ovary(1)|lung(1)	4						c.(9382-9384)TAT>TGT		huntingtin							39.0	43.0	42.0					4																	3241734		2101	4221	6322	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3241734A>G	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.9377A>G	4.37:g.3241734A>G	ENSP00000347184:p.Tyr3126Cys						p.Y3128C	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	68	9528	+		all_epithelial(65;0.18)	3126					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.9383A>G	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013638	0.75161	.	.	ENSG00000197386	ENST00000355072	T	0.13089	2.62	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.35740	0.0942	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.11717	-1.0576	10	0.87932	D	0	.	14.0864	0.64959	1.0:0.0:0.0:0.0	.	3126	P42858	HD_HUMAN	C	3126	ENSP00000347184:Y3126C	ENSP00000347184:Y3126C	Y	+	2	0	HTT	3211532	1.000000	0.71417	0.311000	0.25182	0.785000	0.44390	9.320000	0.96346	1.899000	0.54978	0.533000	0.62120	TAT		0.602	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2		NM_002111		4	14	0	0	0	0.000602	0	4	14		
OTOP1	133060	broad.mit.edu	37	4	4199404	4199404	+	Missense_Mutation	SNP	G	G	A	rs547101628		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:4199404G>A	ENST00000296358.4	-	5	1181	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	386					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGTTTGCGGGCCGGATTTTT	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		15421	0.0		0.0	False		,,,				2504	0.001					uc003ghp.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1156-1158)GCC>GTC		otopetrin 1							44.0	50.0	48.0					4																	4199404		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4199404G>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1157C>T	4.37:g.4199404G>A	ENSP00000296358:p.Ala386Val						p.A386V	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	1187	-			386					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.1157C>T	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639091	0.67244	.	.	ENSG00000163982	ENST00000296358	T	0.22539	1.95	4.9	4.9	0.64082	.	0.294586	0.37530	N	0.002060	T	0.43277	0.1240	M	0.67953	2.075	0.58432	D	0.999997	D	0.56035	0.974	P	0.59424	0.857	T	0.40515	-0.9559	10	0.72032	D	0.01	1.2991	18.4591	0.90732	0.0:0.0:1.0:0.0	.	386	Q7RTM1	OTOP1_HUMAN	V	386	ENSP00000296358:A386V	ENSP00000296358:A386V	A	-	2	0	OTOP1	4250305	1.000000	0.71417	0.937000	0.37676	0.030000	0.12068	9.244000	0.95423	2.435000	0.82474	0.404000	0.27445	GCC		0.592	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2		NM_177998		31	39	0	0	0	0.005524	0	31	39		
TBC1D14	57533	broad.mit.edu	37	4	6925317	6925317	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:6925317G>A	ENST00000409757.4	+	2	325	c.201G>A	c.(199-201)ggG>ggA	p.G67G	TBC1D14_ENST00000448507.1_Silent_p.G67G	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	67					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TGGACTCGGGGATTCCTACCC	0.652																																						uc011bwg.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(199-201)GGG>GGA		TBC1 domain family, member 14 isoform a							45.0	50.0	48.0					4																	6925317		2203	4300	6503	SO:0001819	synonymous_variant	57533					intracellular	Rab GTPase activator activity	g.chr4:6925317G>A	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.201G>A	4.37:g.6925317G>A						TBC1D14_uc003gjs.3_Silent_p.G67G	p.G67G	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN			2	280	+			67					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Silent	SNP	ENST00000409757.4	37	c.201G>A	CCDS3394.2																																																																																				0.652	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3		NM_020773		7	87	0	0	0	0.004482	0	7	87		
TBC1D14	57533	broad.mit.edu	37	4	6969065	6969065	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:6969065G>C	ENST00000409757.4	+	3	881	c.757G>C	c.(757-759)Gac>Cac	p.D253H	TBC1D14_ENST00000410031.1_Missense_Mutation_p.D25H|TBC1D14_ENST00000448507.1_Missense_Mutation_p.D253H	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	253					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TGCAAGGCTTGACAAACACAA	0.413																																						uc011bwg.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(757-759)GAC>CAC		TBC1 domain family, member 14 isoform a							106.0	103.0	104.0					4																	6969065		2203	4300	6503	SO:0001583	missense	57533					intracellular	Rab GTPase activator activity	g.chr4:6969065G>C	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.757G>C	4.37:g.6969065G>C	ENSP00000386921:p.Asp253His					TBC1D14_uc003gjs.3_Missense_Mutation_p.D253H	p.D253H	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN			3	836	+			253					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	c.757G>C	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948795	0.53186	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031	T;T;T	0.05081	3.58;3.58;3.5	5.61	5.61	0.85477	.	0.390087	0.28140	N	0.016444	T	0.10508	0.0257	L	0.44542	1.39	0.80722	D	1	B	0.34181	0.44	B	0.40329	0.326	T	0.03394	-1.1041	10	0.66056	D	0.02	-18.9586	15.1356	0.72562	0.0:0.0:1.0:0.0	.	253	Q9P2M4	TBC14_HUMAN	H	253;253;25	ENSP00000404041:D253H;ENSP00000386921:D253H;ENSP00000386343:D25H	ENSP00000386921:D253H	D	+	1	0	TBC1D14	7019966	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	4.042000	0.57347	2.646000	0.89796	0.561000	0.74099	GAC		0.413	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3		NM_020773		8	136	0	0	0	0.008291	0	8	136		
ACOX3	8310	broad.mit.edu	37	4	8396454	8396454	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:8396454G>A	ENST00000356406.5	-	10	1149	c.1072C>T	c.(1072-1074)Cca>Tca	p.P358S	ACOX3_ENST00000503233.1_Missense_Mutation_p.P358S|RNA5SP152_ENST00000365184.1_RNA|ACOX3_ENST00000413009.2_Missense_Mutation_p.P358S	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	358					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCCAGATATGGAAGCAAGCGC	0.577																																						uc010idk.2		NaN																	0				central_nervous_system(1)	1						c.(1072-1074)CCA>TCA		acyl-Coenzyme A oxidase 3 isoform a							66.0	60.0	62.0					4																	8396454		2203	4300	6503	SO:0001583	missense	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8396454G>A	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1072C>T	4.37:g.8396454G>A	ENSP00000348775:p.Pro358Ser					ACOX3_uc003glc.3_Missense_Mutation_p.P358S|ACOX3_uc003gld.3_Missense_Mutation_p.P358S|ACOX3_uc003gle.1_Missense_Mutation_p.P263S	p.P358S	NM_003501	NP_003492	O15254	ACOX3_HUMAN			10	1217	-			358					Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	c.1072C>T	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829045	0.50845	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	T;T;T	0.71934	-0.61;-0.61;-0.61	4.31	4.31	0.51392	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.87410	0.6170	M	0.92738	3.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.999	D	0.90728	0.4640	10	0.87932	D	0	-46.6178	16.0751	0.80962	0.0:0.0:1.0:0.0	.	358;358;358	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	S	358	ENSP00000413994:P358S;ENSP00000348775:P358S;ENSP00000421625:P358S	ENSP00000348775:P358S	P	-	1	0	ACOX3	8447354	1.000000	0.71417	0.131000	0.22000	0.041000	0.13682	7.991000	0.88244	2.395000	0.81488	0.650000	0.86243	CCA		0.577	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4				13	139	0	0	0	0.00245	0	13	139		
TMEM156	80008	broad.mit.edu	37	4	39000395	39000395	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:39000395G>C	ENST00000381938.3	-	2	330	c.223C>G	c.(223-225)Cta>Gta	p.L75V	TMEM156_ENST00000372489.2_5'UTR	NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	75						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GAGGGATTTAGAAAGATTCTC	0.363																																						uc003gto.2		NaN																	0				skin(1)	1						c.(223-225)CTA>GTA		transmembrane protein 156							79.0	76.0	77.0					4																	39000395		2203	4300	6503	SO:0001583	missense	80008					integral to membrane		g.chr4:39000395G>C	AK026888	CCDS3448.1	4p14	2008-02-05			ENSG00000121895	ENSG00000121895			26260	protein-coding gene	gene with protein product						12477932	Standard	NM_024943		Approved	FLJ23235	uc003gto.3	Q8N614	OTTHUMG00000128582	ENST00000381938.3:c.223C>G	4.37:g.39000395G>C	ENSP00000371364:p.Leu75Val					TMEM156_uc010ifj.2_Missense_Mutation_p.L75V	p.L75V	NM_024943	NP_079219	Q8N614	TM156_HUMAN			2	331	-			75			Extracellular (Potential).		Q9H5N9	Missense_Mutation	SNP	ENST00000381938.3	37	c.223C>G	CCDS3448.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.470807	0.01044	.	.	ENSG00000121895	ENST00000381938;ENST00000344606	T;T	0.23552	1.9;1.9	4.8	2.9	0.33743	.	0.871103	0.09820	N	0.751595	T	0.22085	0.0532	L	0.50333	1.59	0.23192	N	0.998149	B	0.16802	0.019	B	0.19391	0.025	T	0.35724	-0.9777	10	0.06625	T	0.88	-0.8744	10.9974	0.47585	0.0:0.3648:0.6352:0.0	.	75	Q8N614	TM156_HUMAN	V	75	ENSP00000371364:L75V;ENSP00000343758:L75V	ENSP00000343758:L75V	L	-	1	2	TMEM156	38676790	0.998000	0.40836	1.000000	0.80357	0.476000	0.33039	0.313000	0.19415	1.346000	0.45694	0.655000	0.94253	CTA		0.363	TMEM156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250435.3		NM_024943		18	13	0	0	0	0.003954	0	18	13		
N4BP2	55728	broad.mit.edu	37	4	40122276	40122276	+	Missense_Mutation	SNP	G	G	C	rs373204382		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:40122276G>C	ENST00000261435.6	+	9	2961	c.2545G>C	c.(2545-2547)Gag>Cag	p.E849Q		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	849					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TGAAAGTGTAGAGGATGGCAG	0.358																																						uc003guy.3		NaN																	0				lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(2545-2547)GAG>CAG		Nedd4 binding protein 2							68.0	65.0	66.0					4																	40122276		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40122276G>C	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.2545G>C	4.37:g.40122276G>C	ENSP00000261435:p.Glu849Gln					N4BP2_uc010ifq.2_Missense_Mutation_p.E769Q|N4BP2_uc010ifr.2_Missense_Mutation_p.E769Q	p.E849Q	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			9	2883	+			849					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.2545G>C	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.760|2.760	-0.257965|-0.257965	0.05791|0.05791	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.20069|.	2.1|.	5.05|5.05	3.2|3.2	0.36748|0.36748	.|.	0.407281|.	0.23228|.	N|.	0.050500|.	T|T	0.40767|0.40767	0.1130|0.1130	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	B;B|.	0.20671|.	0.047;0.028|.	B;B|.	0.24701|.	0.055;0.025|.	T|T	0.25467|0.25467	-1.0131|-1.0131	10|5	0.23302|.	T|.	0.38|.	-1.0102|-1.0102	6.9567|6.9567	0.24576|0.24576	0.1642:0.2381:0.5977:0.0|0.1642:0.2381:0.5977:0.0	.|.	849;849|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	Q|T	849;769|495	ENSP00000261435:E849Q|.	ENSP00000261435:E849Q|.	E|R	+|+	1|2	0|0	N4BP2|N4BP2	39798671|39798671	0.094000|0.094000	0.21725|0.21725	0.018000|0.018000	0.16275|0.16275	0.611000|0.611000	0.37282|0.37282	0.966000|0.966000	0.29331|0.29331	1.144000|1.144000	0.42321|0.42321	-0.291000|-0.291000	0.09656|0.09656	GAG|AGA		0.358	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2		NM_018177		36	45	0	0	0	0.00874	0	36	45		
FRYL	285527	broad.mit.edu	37	4	48503750	48503750	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:48503750C>G	ENST00000503238.1	-	59	8481	c.8482G>C	c.(8482-8484)Gaa>Caa	p.E2828Q	FRYL_ENST00000537810.1_Splice_Site_p.E2828Q|FRYL_ENST00000358350.4_Splice_Site_p.E2828Q|FRYL_ENST00000264319.7_Splice_Site_p.E218Q|FRYL_ENST00000507873.2_Splice_Site_p.E218Q			O94915	FRYL_HUMAN	FRY-like	2828					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGCTCCAATTCCTAGAAATAA	0.294																																						uc003gyh.1		NaN																	0				skin(1)	1						c.(8482-8484)GAA>CAA		furry-like							114.0	109.0	110.0					4																	48503750		1797	4071	5868	SO:0001630	splice_region_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48503750C>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8482-1G>C	4.37:g.48503750C>G						FRYL_uc003gye.1_Missense_Mutation_p.E10Q|FRYL_uc003gyf.1_Missense_Mutation_p.E218Q|FRYL_uc003gyg.1_Missense_Mutation_p.E1518Q	p.E2828Q	NM_015030	NP_055845	O94915	FRYL_HUMAN			62	9087	-			2828					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.8482G>C	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	9.562	1.118813	0.20877	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.22134	1.97;1.97;2.0	5.45	5.45	0.79879	.	0.000000	0.64402	U	0.000001	T	0.19805	0.0476	N	0.14661	0.345	0.80722	D	1	B;B;B	0.31752	0.024;0.074;0.338	B;B;P	0.44647	0.028;0.063;0.456	T	0.01363	-1.1374	10	0.05351	T	0.99	.	19.6539	0.95828	0.0:1.0:0.0:0.0	.	2828;2828;218	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	Q	2828;2828;2828;218;218	ENSP00000426064:E2828Q;ENSP00000351113:E2828Q;ENSP00000441114:E2828Q	ENSP00000264319:E218Q	E	-	1	0	FRYL	48198507	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.426000	0.59882	2.719000	0.93026	0.484000	0.47621	GAA		0.294	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			Missense_Mutation	62	46	0	0	0	0.01441	0	62	46		
SRP72	6731	broad.mit.edu	37	4	57356772	57356772	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:57356772T>A	ENST00000342756.5	+	15	2184	c.1463T>A	c.(1462-1464)aTt>aAt	p.I488N	SRP72_ENST00000510663.1_Missense_Mutation_p.I427N	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	488					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					GCACAGCTTATTTCTGCTTAC	0.333																																						uc003hbv.2		NaN																	0				ovary(1)	1						c.(1462-1464)ATT>AAT		signal recognition particle 72kDa							75.0	68.0	70.0					4																	57356772		2203	4300	6503	SO:0001583	missense	6731				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57356772T>A	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1463T>A	4.37:g.57356772T>A	ENSP00000342181:p.Ile488Asn					SRP72_uc010ihe.2_Missense_Mutation_p.I427N|SRP72_uc003hbw.1_Missense_Mutation_p.I249N	p.I488N	NM_006947	NP_008878	O76094	SRP72_HUMAN			15	1503	+	Glioma(25;0.08)|all_neural(26;0.101)		488					G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	c.1463T>A	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.446465	0.84101	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663;ENST00000505314	T;T	0.80824	-1.38;-1.42	5.96	5.96	0.96718	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.88647	0.6493	M	0.71581	2.175	0.80722	D	1	D;D;D	0.76494	0.985;0.999;0.993	D;D;D	0.76575	0.923;0.988;0.954	D	0.89580	0.3820	10	0.72032	D	0.01	.	14.4005	0.67041	0.0:0.0:0.0:1.0	.	427;488;488	G5E9Z8;Q86X80;O76094	.;.;SRP72_HUMAN	N	488;433;427;249	ENSP00000342181:I488N;ENSP00000424576:I427N	ENSP00000342181:I488N	I	+	2	0	SRP72	57051529	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.991000	0.88244	2.285000	0.76669	0.533000	0.62120	ATT		0.333	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7				21	20	0	0	0	0.005443	0	21	20		
SLC4A4	8671	broad.mit.edu	37	4	72222830	72222830	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:72222830C>A	ENST00000264485.5	+	6	773	c.656C>A	c.(655-657)tCc>tAc	p.S219Y	SLC4A4_ENST00000512686.1_Missense_Mutation_p.S175Y|SLC4A4_ENST00000351898.6_Missense_Mutation_p.S219Y|SLC4A4_ENST00000425175.1_Missense_Mutation_p.S219Y|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000340595.3_Missense_Mutation_p.S175Y	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	219					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	ACCAAGAAATCCAACCTTCGG	0.483																																						uc003hfy.2		NaN																	0				ovary(3)|kidney(1)|skin(1)	5						c.(655-657)TCC>TAC		solute carrier family 4, sodium bicarbonate							134.0	136.0	135.0					4																	72222830		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72222830C>A	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.656C>A	4.37:g.72222830C>A	ENSP00000264485:p.Ser219Tyr					SLC4A4_uc010iic.2_Missense_Mutation_p.S219Y|SLC4A4_uc010iib.2_Missense_Mutation_p.S219Y|SLC4A4_uc003hfz.2_Missense_Mutation_p.S219Y|SLC4A4_uc003hgc.3_Missense_Mutation_p.S175Y|SLC4A4_uc003hga.2_Missense_Mutation_p.S97Y|SLC4A4_uc003hgb.3_Missense_Mutation_p.S175Y	p.S219Y	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		6	773	+			219			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.656C>A	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977314	0.92982	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.84	5.84	0.93424	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	T	0.81489	0.4833	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D;D	0.76494	0.998;0.997;0.997;0.999;0.995;0.995	D;D;D;D;D;D	0.91635	0.986;0.964;0.976;0.999;0.961;0.961	T	0.81920	-0.0712	10	0.87932	D	0	.	20.1306	0.97998	0.0:1.0:0.0:0.0	.	219;219;175;175;199;219	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	Y	219;219;219;175;175	ENSP00000264485:S219Y;ENSP00000393557:S219Y;ENSP00000307349:S219Y;ENSP00000422400:S175Y;ENSP00000344272:S175Y	ENSP00000264485:S219Y	S	+	2	0	SLC4A4	72441694	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.751000	0.94390	0.655000	0.94253	TCC		0.483	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1		NM_003759		65	73	1	0	8.87156e-34	0.01441	9.69773e-34	65	73		
GK2	2712	broad.mit.edu	37	4	80328945	80328945	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:80328945A>T	ENST00000358842.3	-	1	427	c.410T>A	c.(409-411)gTc>gAc	p.V137D		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTTAGACTTGACGAAGTTACT	0.428																																						uc003hlu.2		NaN																	0				ovary(2)|skin(2)	4						c.(409-411)GTC>GAC		glycerol kinase 2							136.0	134.0	135.0					4																	80328945		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328945A>T	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.410T>A	4.37:g.80328945A>T	ENSP00000351706:p.Val137Asp						p.V137D	NM_033214	NP_149991	Q14410	GLPK2_HUMAN			1	428	-			137					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.410T>A	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.679941	0.47886	.	.	ENSG00000196475	ENST00000358842	T	0.53423	0.62	3.76	3.76	0.43208	Carbohydrate kinase, FGGY, N-terminal (1);	0.134887	0.49916	D	0.000135	T	0.53948	0.1828	M	0.69823	2.125	0.49798	D	0.999821	P	0.46064	0.872	P	0.52267	0.694	T	0.58504	-0.7625	10	0.87932	D	0	-0.9641	5.8813	0.18856	0.8841:0.0:0.1159:0.0	.	137	Q14410	GLPK2_HUMAN	D	137	ENSP00000351706:V137D	ENSP00000351706:V137D	V	-	2	0	GK2	80547969	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	4.259000	0.58828	1.958000	0.56883	0.477000	0.44152	GTC		0.428	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2		NM_033214		16	125	0	0	0	0.00499	0	16	125		
FAM13A	10144	broad.mit.edu	37	4	89671584	89671584	+	Missense_Mutation	SNP	G	G	C	rs141057688		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:89671584G>C	ENST00000264344.5	-	15	2138	c.1931C>G	c.(1930-1932)tCt>tGt	p.S644C	FAM13A_ENST00000395002.2_Missense_Mutation_p.S318C|FAM13A_ENST00000503556.1_Missense_Mutation_p.S304C|FAM13A_ENST00000513837.1_Missense_Mutation_p.S290C|FAM13A_ENST00000508369.1_Missense_Mutation_p.S318C|FAM13A_ENST00000511976.1_Missense_Mutation_p.S230C	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	644					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CCTCATGAAAGAATGGGAGTT	0.458																																						uc003hse.1		NaN																	0				ovary(1)|liver(1)	2						c.(1930-1932)TCT>TGT		family with sequence similarity 13, member A1							99.0	97.0	97.0					4																	89671584		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89671584G>C	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1931C>G	4.37:g.89671584G>C	ENSP00000264344:p.Ser644Cys					FAM13A_uc003hsa.1_Missense_Mutation_p.S115C|FAM13A_uc003hsb.1_Missense_Mutation_p.S318C|FAM13A_uc003hsd.1_Missense_Mutation_p.S318C|FAM13A_uc003hsc.1_Missense_Mutation_p.S304C|FAM13A_uc011cdq.1_Missense_Mutation_p.S290C|FAM13A_uc003hsf.1_Missense_Mutation_p.S230C|FAM13A_uc003hsg.1_Missense_Mutation_p.S115C|FAM13A_uc010ikr.1_Missense_Mutation_p.S140C	p.S644C	NM_014883	NP_055698	O94988	FA13A_HUMAN			15	2139	-			644					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.1931C>G	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.870000	0.72065	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.51817	0.69;1.98;1.29;1.33;1.29;1.3	5.64	5.64	0.86602	.	0.054007	0.85682	D	0.000000	T	0.67373	0.2886	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.988;0.999;0.997;1.0;0.999;0.994;0.988	P;D;P;D;D;P;P	0.67231	0.823;0.91;0.874;0.95;0.91;0.77;0.823	T	0.67333	-0.5697	10	0.72032	D	0.01	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	290;323;230;644;318;304;318	O94988-6;E7ENS3;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;.;FA13A_HUMAN;.;.;.	C	318;644;304;230;318;290	ENSP00000378450:S318C;ENSP00000264344:S644C;ENSP00000427189:S304C;ENSP00000421914:S230C;ENSP00000421562:S318C;ENSP00000423252:S290C	ENSP00000264344:S644C	S	-	2	0	FAM13A	89890607	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	9.222000	0.95196	2.937000	0.99478	0.650000	0.86243	TCT		0.458	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1				34	58	0	0	0	0.005524	0	34	58		
FAM13A	10144	broad.mit.edu	37	4	89671699	89671699	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:89671699G>A	ENST00000264344.5	-	15	2023	c.1816C>T	c.(1816-1818)Cag>Tag	p.Q606*	FAM13A_ENST00000395002.2_Nonsense_Mutation_p.Q280*|FAM13A_ENST00000503556.1_Nonsense_Mutation_p.Q266*|FAM13A_ENST00000513837.1_Nonsense_Mutation_p.Q252*|FAM13A_ENST00000508369.1_Nonsense_Mutation_p.Q280*|FAM13A_ENST00000511976.1_Nonsense_Mutation_p.Q192*	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	606					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TCCAGCAGCTGACGGATCAGG	0.592																																						uc003hse.1		NaN																	0				ovary(1)|liver(1)	2						c.(1816-1818)CAG>TAG		family with sequence similarity 13, member A1							88.0	87.0	87.0					4																	89671699		2203	4300	6503	SO:0001587	stop_gained	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89671699G>A	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1816C>T	4.37:g.89671699G>A	ENSP00000264344:p.Gln606*					FAM13A_uc003hsa.1_Nonsense_Mutation_p.Q77*|FAM13A_uc003hsb.1_Nonsense_Mutation_p.Q280*|FAM13A_uc003hsd.1_Nonsense_Mutation_p.Q280*|FAM13A_uc003hsc.1_Nonsense_Mutation_p.Q266*|FAM13A_uc011cdq.1_Nonsense_Mutation_p.Q252*|FAM13A_uc003hsf.1_Nonsense_Mutation_p.Q192*|FAM13A_uc003hsg.1_Nonsense_Mutation_p.Q77*|FAM13A_uc010ikr.1_Nonsense_Mutation_p.Q102*	p.Q606*	NM_014883	NP_055698	O94988	FA13A_HUMAN			15	2024	-			606					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Nonsense_Mutation	SNP	ENST00000264344.5	37	c.1816C>T	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	G	37	6.319316	0.97471	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	19.61	0.95602	0.0:0.0:1.0:0.0	.	.	.	.	X	280;606;266;192;280;252	.	ENSP00000264344:Q606X	Q	-	1	0	FAM13A	89890722	1.000000	0.71417	0.984000	0.44739	0.558000	0.35554	9.222000	0.95196	2.868000	0.98415	0.557000	0.71058	CAG		0.592	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1				25	46	0	0	0	0.003954	0	25	46		
ARHGEF38	54848	broad.mit.edu	37	4	106510538	106510538	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:106510538C>G	ENST00000420470.2	+	2	474	c.330C>G	c.(328-330)ctC>ctG	p.L110L	ARHGEF38_ENST00000265154.2_Silent_p.L110L	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	110	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						AGGATTATCTCAATGATCTAG	0.378																																						uc003hxu.2		NaN																	0				ovary(2)|breast(1)	3						c.(328-330)CTC>CTG		hypothetical protein LOC54848							126.0	131.0	129.0					4																	106510538		2203	4300	6503	SO:0001819	synonymous_variant	54848				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr4:106510538C>G	AK000191	CCDS3670.1, CCDS56338.1	4q24	2012-07-24			ENSG00000236699	ENSG00000236699		"""Rho guanine nucleotide exchange factors"""	25968	protein-coding gene	gene with protein product							Standard	NM_001242729		Approved	FLJ20184	uc003hxv.2	Q9NXL2	OTTHUMG00000154752	ENST00000420470.2:c.330C>G	4.37:g.106510538C>G							p.L110L	NM_017700	NP_060170	Q9NXL2	ARH38_HUMAN			2	476	+			110			DH.		C9JIB4	Silent	SNP	ENST00000420470.2	37	c.330C>G	CCDS56338.1																																																																																				0.378	ARHGEF38-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000336934.3		NM_017700		29	43	0	0	0	0.005524	0	29	43		
INTS12	57117	broad.mit.edu	37	4	106603932	106603932	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:106603932C>T	ENST00000451321.2	-	7	1826	c.1347G>A	c.(1345-1347)caG>caA	p.Q449Q	INTS12_ENST00000340139.5_Silent_p.Q449Q|INTS12_ENST00000394735.1_Silent_p.Q449Q	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	449					snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TCTTGACCATCTGTAATCGCT	0.408																																						uc003hxw.2		NaN																	0					0						c.(1345-1347)CAG>CAA		integrator complex subunit 12							193.0	192.0	192.0					4																	106603932		2203	4300	6503	SO:0001819	synonymous_variant	57117				snRNA processing	integrator complex	protein binding|zinc ion binding	g.chr4:106603932C>T		CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"""Zinc fingers, PHD-type"""	25067	protein-coding gene	gene with protein product	"""hypothetical nuclear factor SBBI22"""	611355	"""PHD finger protein 22"""	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.1347G>A	4.37:g.106603932C>T						INTS12_uc010ilr.2_Silent_p.Q449Q	p.Q449Q	NM_020395	NP_065128	Q96CB8	INT12_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)	8	1605	-			449					B2RC48|Q3B6Z3|Q9HD71	Silent	SNP	ENST00000451321.2	37	c.1347G>A	CCDS3671.1																																																																																				0.408	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318624.1		NM_020395		67	110	0	0	0	0.01441	0	67	110		
KIAA1109	84162	broad.mit.edu	37	4	123141550	123141550	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:123141550G>C	ENST00000264501.4	+	22	2911	c.2538G>C	c.(2536-2538)atG>atC	p.M846I	KIAA1109_ENST00000455637.1_Missense_Mutation_p.M846I|KIAA1109_ENST00000388738.3_Missense_Mutation_p.M846I|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	846					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTTTGAAATGAAAAAAGGAT	0.393																																						uc003ieh.2		NaN																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(2536-2538)ATG>ATC		fragile site-associated protein							90.0	84.0	86.0					4																	123141550		1853	4099	5952	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123141550G>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2538G>C	4.37:g.123141550G>C	ENSP00000264501:p.Met846Ile					KIAA1109_uc003iei.1_Missense_Mutation_p.M600I|KIAA1109_uc010ins.1_Missense_Mutation_p.M190I|KIAA1109_uc003iej.1_Missense_Mutation_p.M231I	p.M846I	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			20	2583	+			846					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.2538G>C	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.00|19.00	3.741804|3.741804	0.69304|0.69304	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637;ENST00000449251	.|T;T;T;T	.|0.48836	.|0.8;0.8;0.8;0.8	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.248766	.|0.29715	.|U	.|0.011392	T|T	0.63815|0.63815	0.2543|0.2543	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|D;P	.|0.58268	.|0.982;0.851	.|D;P	.|0.68943	.|0.961;0.838	T|T	0.61594|0.61594	-0.7031|-0.7031	5|10	.|0.48119	.|T	.|0.1	.|.	19.4924|19.4924	0.95056|0.95056	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|846;846	.|Q2LD37-5;Q2LD37	.|.;K1109_HUMAN	Q|I	679|846;846;846;54	.|ENSP00000264501:M846I;ENSP00000373390:M846I;ENSP00000389925:M846I;ENSP00000413018:M54I	.|ENSP00000264501:M846I	E|M	+|+	1|3	0|0	KIAA1109|KIAA1109	123361000|123361000	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.522000|9.522000	0.98032|0.98032	2.619000|2.619000	0.88677|0.88677	0.460000|0.460000	0.39030|0.39030	GAA|ATG		0.393	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1		NM_020797		19	19	0	0	0	0.014323	0	19	19		
KIAA1109	84162	broad.mit.edu	37	4	123159417	123159417	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:123159417G>A	ENST00000264501.4	+	28	4118	c.3745G>A	c.(3745-3747)Gaa>Aaa	p.E1249K	KIAA1109_ENST00000455637.1_Missense_Mutation_p.E1249K|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E1249K|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	1249					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTGGCTGGTGAAAAGGAAAG	0.433																																						uc003ieh.2		NaN																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(3745-3747)GAA>AAA		fragile site-associated protein							136.0	127.0	130.0					4																	123159417		1895	4126	6021	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123159417G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.3745G>A	4.37:g.123159417G>A	ENSP00000264501:p.Glu1249Lys					KIAA1109_uc003iei.1_Missense_Mutation_p.E1002K|KIAA1109_uc010ins.1_Missense_Mutation_p.E592K|KIAA1109_uc003iek.2_5'Flank	p.E1249K	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			26	3790	+			1249					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.3745G>A	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868365	0.72065	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.26810	2.31;2.31;1.71	5.68	5.68	0.88126	.	0.000000	0.43919	U	0.000508	T	0.20047	0.0482	N	0.19112	0.55	0.53688	D	0.999978	B	0.20780	0.048	B	0.18263	0.021	T	0.05115	-1.0905	10	0.22706	T	0.39	.	19.7855	0.96434	0.0:0.0:1.0:0.0	.	1249	Q2LD37	K1109_HUMAN	K	1249	ENSP00000264501:E1249K;ENSP00000373390:E1249K;ENSP00000389925:E1249K	ENSP00000264501:E1249K	E	+	1	0	KIAA1109	123378867	1.000000	0.71417	0.874000	0.34290	0.942000	0.58702	8.847000	0.92166	2.698000	0.92095	0.585000	0.79938	GAA		0.433	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1		NM_020797		34	33	0	0	0	0.005524	0	34	33		
TTC29	83894	broad.mit.edu	37	4	147754965	147754965	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:147754965G>A	ENST00000325106.4	-	9	1196	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L	TTC29_ENST00000513335.1_Silent_p.L350L|TTC29_ENST00000398886.4_Silent_p.L350L	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	324										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TACCTCTGCAGGACCTTGGCT	0.448																																						uc003ikw.3		NaN																	0					0						c.(970-972)CTG>TTG		tetratricopeptide repeat domain 29							83.0	84.0	83.0					4																	147754965		1970	4149	6119	SO:0001819	synonymous_variant	83894						binding	g.chr4:147754965G>A	AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.970C>T	4.37:g.147754965G>A						TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Silent_p.L350L|TTC29_uc010ipd.1_Silent_p.L324L	p.L324L	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN			9	1197	-	all_hematologic(180;0.151)		324			TPR 4.		A4GU95|Q9BXB6	Silent	SNP	ENST00000325106.4	37	c.970C>T	CCDS47141.1																																																																																				0.448	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_031956		29	32	0	0	0	0.005524	0	29	32		
PRIMPOL	201973	broad.mit.edu	37	4	185606792	185606792	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:185606792C>T	ENST00000314970.6	+	11	1682	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	PRIMPOL_ENST00000515774.1_Missense_Mutation_p.R288W|PRIMPOL_ENST00000512834.1_Missense_Mutation_p.R416W|PRIMPOL_ENST00000503752.1_Missense_Mutation_p.R417W	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	417					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)										TTGTAAATATCGGTGGTGTGA	0.279																																						uc003iwk.2		NaN																	0				central_nervous_system(1)	1						c.(1249-1251)CGG>TGG		coiled-coil domain containing 111							98.0	106.0	103.0					4																	185606792		2202	4300	6502	SO:0001583	missense	201973				DNA replication, synthesis of RNA primer		DNA primase activity	g.chr4:185606792C>T	AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"""coiled-coil domain containing 111"""	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.1249C>T	4.37:g.185606792C>T	ENSP00000313816:p.Arg417Trp					CCDC111_uc003iwj.2_Missense_Mutation_p.R416W|CCDC111_uc003iwl.2_Missense_Mutation_p.R417W|CCDC111_uc003iwm.2_Missense_Mutation_p.R288W|CCDC111_uc003iwn.2_Missense_Mutation_p.R157W	p.R417W	NM_152683	NP_689896	Q96LW4	CC111_HUMAN		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)	11	1682	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)	417					D3DP55|D6RDM1|Q5HYJ9	Missense_Mutation	SNP	ENST00000314970.6	37	c.1249C>T	CCDS3837.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022764	0.93462	.	.	ENSG00000164306	ENST00000314970;ENST00000515774;ENST00000503752;ENST00000512834;ENST00000508001	T;T;T;T	0.61859	0.1;0.07;0.1;0.11	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.81098	0.4752	M	0.87381	2.88	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	T	0.83015	-0.0170	10	0.87932	D	0	-30.4189	20.3207	0.98668	0.0:1.0:0.0:0.0	.	288;417;416	D3DP56;Q96LW4;D6RDM1	.;CC111_HUMAN;.	W	417;288;417;416;91	ENSP00000313816:R417W;ENSP00000421913:R288W;ENSP00000420860:R417W;ENSP00000425316:R416W	ENSP00000313816:R417W	R	+	1	2	CCDC111	185843786	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.157000	0.77461	2.813000	0.96785	0.561000	0.74099	CGG		0.279	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1		NM_152683		44	37	0	0	0	0.01441	0	44	37		
OTULIN	90268	broad.mit.edu	37	5	14690313	14690313	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:14690313C>T	ENST00000284274.4	+	6	838	c.760C>T	c.(760-762)Cca>Tca	p.P254S		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		254	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					AAAGGAAGTACCATTTTTCTC	0.428																																						uc003jfk.2		NaN																	0				ovary(2)	2						c.(760-762)CCA>TCA		hypothetical protein LOC90268							88.0	85.0	86.0					5																	14690313		1889	4113	6002	SO:0001583	missense	90268							g.chr5:14690313C>T																												ENST00000284274.4:c.760C>T	5.37:g.14690313C>T	ENSP00000284274:p.Pro254Ser						p.P254S	NM_138348	NP_612357	Q96BN8	F105B_HUMAN			6	912	+	Lung NSC(4;0.00696)		254					D3DTD3|Q8NAS0|Q96IA3	Missense_Mutation	SNP	ENST00000284274.4	37	c.760C>T	CCDS43302.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195614	0.94960	.	.	ENSG00000154124	ENST00000284274	T	0.19806	2.12	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.51329	0.1668	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50717	-0.8795	10	0.87932	D	0	-15.2087	19.3809	0.94532	0.0:1.0:0.0:0.0	.	254	Q96BN8	F105B_HUMAN	S	254	ENSP00000284274:P254S	ENSP00000284274:P254S	P	+	1	0	FAM105B	14743313	1.000000	0.71417	0.657000	0.29651	0.991000	0.79684	7.699000	0.84547	2.813000	0.96785	0.655000	0.94253	CCA		0.428	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1				28	20	0	0	0	0.007291	0	28	20		
ZNF622	90441	broad.mit.edu	37	5	16453158	16453158	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:16453158G>A	ENST00000308683.2	-	5	1396	c.1270C>T	c.(1270-1272)Cag>Tag	p.Q424*		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	424					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CTGTACTGCTGAAGTACTCGG	0.502																																						uc003jfq.2		NaN																	0				ovary(1)	1						c.(1270-1272)CAG>TAG		zinc finger protein 622							76.0	76.0	76.0					5																	16453158		2203	4300	6503	SO:0001587	stop_gained	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16453158G>A	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.1270C>T	5.37:g.16453158G>A	ENSP00000310042:p.Gln424*						p.Q424*	NM_033414	NP_219482	Q969S3	ZN622_HUMAN			5	1390	-			424						Nonsense_Mutation	SNP	ENST00000308683.2	37	c.1270C>T	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	G	37	6.571675	0.97671	.	.	ENSG00000173545	ENST00000308683	.	.	.	5.7	5.7	0.88788	.	0.187552	0.47455	D	0.000240	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.1872	15.0845	0.72142	0.0:0.0:0.8576:0.1424	.	.	.	.	X	424	.	ENSP00000310042:Q424X	Q	-	1	0	ZNF622	16506158	1.000000	0.71417	0.935000	0.37517	0.989000	0.77384	3.871000	0.56077	2.678000	0.91216	0.655000	0.94253	CAG		0.502	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1		NM_033414		18	39	0	0	0	0.012319	0	18	39		
ZFR	51663	broad.mit.edu	37	5	32364311	32364311	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:32364311C>G	ENST00000265069.8	-	18	3008	c.2906G>C	c.(2905-2907)aGa>aCa	p.R969T	ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	969	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AAAAACTCTTCTCAGTGCATC	0.353																																						uc003jhr.1		NaN																	0					0						c.(2905-2907)AGA>ACA		zinc finger RNA binding protein							83.0	88.0	86.0					5																	32364311		2203	4300	6503	SO:0001583	missense	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32364311C>G	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2906G>C	5.37:g.32364311C>G	ENSP00000265069:p.Arg969Thr					ZFR_uc010ium.1_Missense_Mutation_p.R100T|ZFR_uc011cny.1_RNA	p.R969T	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	18	2986	-			969			DZF.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	c.2906G>C	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947743	0.73787	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.63417	-0.04	5.74	5.74	0.90152	DZF (2);	0.000000	0.85682	D	0.000000	D	0.83519	0.5272	M	0.89214	3.015	0.80722	D	1	D;D	0.62365	0.991;0.985	D;D	0.78314	0.991;0.977	D	0.85839	0.1396	10	0.87932	D	0	.	19.9357	0.97140	0.0:1.0:0.0:0.0	.	948;969	B5MEH6;Q96KR1	.;ZFR_HUMAN	T	969;948	ENSP00000265069:R969T	ENSP00000265069:R969T	R	-	2	0	ZFR	32400068	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.382000	0.79729	2.715000	0.92844	0.655000	0.94253	AGA		0.353	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1				51	45	0	0	0	0.01441	0	51	45		
ADAMTS12	81792	broad.mit.edu	37	5	33751570	33751570	+	Silent	SNP	C	C	T	rs143045075		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:33751570C>T	ENST00000504830.1	-	3	908	c.573G>A	c.(571-573)ccG>ccA	p.P191P	ADAMTS12_ENST00000352040.3_Silent_p.P191P|ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000515401.1_Silent_p.P191P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	191					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P191P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AAACGATGTGCGGGTGGTACC	0.463										HNSCC(64;0.19)																												uc003jia.1		NaN																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(571-573)CCG>CCA		ADAM metallopeptidase with thrombospondin type 1		C		1,4405	2.1+/-5.4	0,1,2202	149.0	145.0	146.0		573	-2.5	0.9	5	dbSNP_134	146	0,8600		0,0,4300	no	coding-synonymous	ADAMTS12	NM_030955.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		191/1595	33751570	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33751570C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.573G>A	5.37:g.33751570C>T		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.P191P|ADAMTS12_uc003jib.1_Silent_p.P191P	p.P191P	NM_030955	NP_112217	P58397	ATS12_HUMAN			3	736	-			191					A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.573G>A	CCDS34140.1																																																																																				0.463	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955		26	70	0	0	0	0.008361	0	26	70		
C9	735	broad.mit.edu	37	5	39311467	39311467	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:39311467G>C	ENST00000263408.4	-	7	978	c.883C>G	c.(883-885)Ctg>Gtg	p.L295V		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	295	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTCACATGCAGAAACATTTTT	0.348																																						uc003jlv.3		NaN																	0					0						c.(883-885)CTG>GTG		complement component 9 precursor							86.0	81.0	83.0					5																	39311467		2203	4298	6501	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39311467G>C		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.883C>G	5.37:g.39311467G>C	ENSP00000263408:p.Leu295Val						p.L295V	NM_001737	NP_001728	P02748	CO9_HUMAN	Epithelial(62;0.158)		7	972	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	295			MACPF.			Missense_Mutation	SNP	ENST00000263408.4	37	c.883C>G	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	G	7.598	0.672245	0.14776	.	.	ENSG00000113600	ENST00000263408	D	0.84730	-1.89	5.48	2.69	0.31865	Membrane attack complex component/perforin (MACPF) domain (3);	0.118209	0.52532	N	0.000069	T	0.74596	0.3737	L	0.52266	1.64	0.26708	N	0.971039	P	0.42785	0.79	B	0.36608	0.229	T	0.64127	-0.6480	10	0.26408	T	0.33	-5.6399	4.374	0.11262	0.1383:0.1216:0.6147:0.1254	.	295	P02748	CO9_HUMAN	V	295	ENSP00000263408:L295V	ENSP00000263408:L295V	L	-	1	2	C9	39347224	1.000000	0.71417	0.895000	0.35142	0.046000	0.14306	0.721000	0.25911	0.677000	0.31305	-0.219000	0.12488	CTG		0.348	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3				27	15	0	0	0	0.010818	0	27	15		
IL31RA	133396	broad.mit.edu	37	5	55178999	55178999	+	Silent	SNP	C	C	T	rs370085931		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:55178999C>T	ENST00000447346.2	+	5	647	c.582C>T	c.(580-582)ttC>ttT	p.F194F	IL31RA_ENST00000490985.1_Silent_p.F52F|IL31RA_ENST00000359040.5_Silent_p.F194F|IL31RA_ENST00000354961.4_Silent_p.F175F|IL31RA_ENST00000297015.3_Silent_p.F52F|IL31RA_ENST00000396836.2_Silent_p.F194F|IL31RA_ENST00000396834.1_Silent_p.F175F	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	162	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CACTTCGATTCAGGACAGTCA	0.388																																						uc003jql.2		NaN																	0				ovary(1)	1						c.(580-582)TTC>TTT		gp130-like monocyte receptor							84.0	80.0	82.0					5																	55178999		2203	4300	6503	SO:0001819	synonymous_variant	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55178999C>T	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.582C>T	5.37:g.55178999C>T						IL31RA_uc003jqk.2_Silent_p.F194F|IL31RA_uc011cqj.1_Silent_p.F52F|IL31RA_uc003jqm.2_Silent_p.F162F|IL31RA_uc003jqn.2_Silent_p.F194F|IL31RA_uc010iwa.1_Silent_p.F162F|IL31RA_uc003jqo.2_Silent_p.F52F	p.F194F	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN			5	647	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	162			Extracellular (Potential).|Fibronectin type-III 2.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Silent	SNP	ENST00000447346.2	37	c.582C>T	CCDS3970.2																																																																																				0.388	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1		NM_139017		31	13	0	0	0	0.00623	0	31	13		
SGTB	54557	broad.mit.edu	37	5	64967757	64967757	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:64967757G>C	ENST00000381007.4	-	10	1023	c.788C>G	c.(787-789)tCa>tGa	p.S263*		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	263										large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		GATGAGGCTTGACAGGTCAGT	0.423																																						uc003jud.2		NaN																	0					0						c.(787-789)TCA>TGA		small glutamine-rich tetratricopeptide repeat							44.0	43.0	43.0					5																	64967757		2203	4300	6503	SO:0001587	stop_gained	54557						binding	g.chr5:64967757G>C	AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"""Tetratricopeptide (TTC) repeat domain containing"""	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.788C>G	5.37:g.64967757G>C	ENSP00000370395:p.Ser263*						p.S263*	NM_019072	NP_061945	Q96EQ0	SGTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)	10	1008	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)	263						Nonsense_Mutation	SNP	ENST00000381007.4	37	c.788C>G	CCDS3988.1	.	.	.	.	.	.	.	.	.	.	G	37	6.622129	0.97714	.	.	ENSG00000197860	ENST00000381007	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-8.2542	19.3618	0.94442	0.0:0.0:1.0:0.0	.	.	.	.	X	263	.	ENSP00000370395:S263X	S	-	2	0	SGTB	65003513	1.000000	0.71417	0.996000	0.52242	0.881000	0.50899	9.016000	0.93645	2.794000	0.96219	0.650000	0.86243	TCA		0.423	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215057.2		NM_019072		16	19	0	0	0	0.007413	0	16	19		
MSH3	4437	broad.mit.edu	37	5	80063775	80063775	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:80063775G>C	ENST00000265081.6	+	14	2000	c.1920G>C	c.(1918-1920)ttG>ttC	p.L640F		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	640					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		AGTTCTTCTTGATTGTCAAAA	0.303								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	uc003kgz.2		NaN																	0				lung(2)|ovary(1)|breast(1)	4						c.(1918-1920)TTG>TTC	MMR	mutS homolog 3							56.0	58.0	57.0					5																	80063775		2203	4299	6502	SO:0001583	missense	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:80063775G>C	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1920G>C	5.37:g.80063775G>C	ENSP00000265081:p.Leu640Phe						p.L640F	NM_002439	NP_002430	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	14	2173	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	640					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	c.1920G>C	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932800	0.34096	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.90444	-2.67	5.66	4.78	0.61160	DNA mismatch repair protein MutS, core (3);	0.189882	0.45867	D	0.000338	D	0.86049	0.5840	L	0.40543	1.245	0.38304	D	0.943061	B	0.22746	0.074	B	0.28465	0.09	T	0.81590	-0.0863	9	.	.	.	-8.1195	12.7562	0.57336	0.13:0.0:0.87:0.0	.	640	P20585	MSH3_HUMAN	F	640;631	ENSP00000265081:L640F	.	L	+	3	2	MSH3	80099531	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.288000	0.51739	2.827000	0.97445	0.609000	0.83330	TTG		0.303	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1		NM_002439		8	27	0	0	0	0.008291	0	8	27		
RHOBTB3	22836	broad.mit.edu	37	5	95067591	95067591	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:95067591G>A	ENST00000379982.3	+	2	539	c.31G>A	c.(31-33)Gag>Aag	p.E11K	CTD-2154I11.2_ENST00000513235.1_RNA|RHOBTB3_ENST00000515852.1_3'UTR|RHOBTB3_ENST00000506817.1_Missense_Mutation_p.E11K|CTD-2154I11.2_ENST00000512486.1_RNA	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	11	Rho-like.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GCTGGGGAACGAGGGGGACAC	0.652																																						uc003klm.2		NaN																	0				lung(1)|skin(1)	2						c.(31-33)GAG>AAG		rho-related BTB domain containing 3							29.0	31.0	31.0					5																	95067591		2203	4300	6503	SO:0001583	missense	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95067591G>A	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.31G>A	5.37:g.95067591G>A	ENSP00000369318:p.Glu11Lys					RHOBTB3_uc003klk.1_5'UTR|RHOBTB3_uc003kll.2_Missense_Mutation_p.E11K	p.E11K	NM_014899	NP_055714	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	2	568	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	11			Rho-like.		A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	c.31G>A	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255943	0.95336	.	.	ENSG00000164292	ENST00000506959;ENST00000506817;ENST00000379982	T;T;T	0.70986	0.88;0.74;-0.53	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000001	T	0.76414	0.3984	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.83275	0.658;0.996	T	0.79502	-0.1777	10	0.87932	D	0	-8.5788	15.2593	0.73610	0.0:0.0:1.0:0.0	.	11;11	O94955;D6RG10	RHBT3_HUMAN;.	K	17;11;11	ENSP00000423688:E17K;ENSP00000426479:E11K;ENSP00000369318:E11K	ENSP00000369318:E11K	E	+	1	0	RHOBTB3	95093347	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.789000	0.69029	2.396000	0.81511	0.557000	0.71058	GAG		0.652	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1		NM_014899		18	42	0	0	0	0.005443	0	18	42		
RHOBTB3	22836	broad.mit.edu	37	5	95067677	95067677	+	Missense_Mutation	SNP	G	G	C	rs374008783		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:95067677G>C	ENST00000379982.3	+	2	625	c.117G>C	c.(115-117)gaG>gaC	p.E39D	CTD-2154I11.2_ENST00000513235.1_RNA|RHOBTB3_ENST00000515852.1_3'UTR|RHOBTB3_ENST00000506817.1_Missense_Mutation_p.E39D|CTD-2154I11.2_ENST00000512486.1_RNA	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	39	Rho-like.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		CCGGGGACGAGAGCAGCTTGT	0.637																																						uc003klm.2		NaN																	0				lung(1)|skin(1)	2						c.(115-117)GAG>GAC		rho-related BTB domain containing 3							59.0	53.0	55.0					5																	95067677		2203	4300	6503	SO:0001583	missense	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95067677G>C	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.117G>C	5.37:g.95067677G>C	ENSP00000369318:p.Glu39Asp					RHOBTB3_uc003klk.1_5'UTR|RHOBTB3_uc003kll.2_Missense_Mutation_p.E39D	p.E39D	NM_014899	NP_055714	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	2	654	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	39			Rho-like.		A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	c.117G>C	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759229	0.49468	.	.	ENSG00000164292	ENST00000506959;ENST00000506817;ENST00000379982	T;T;T	0.63913	1.5;1.33;-0.07	4.86	-5.07	0.02938	.	0.275955	0.34268	N	0.004115	T	0.29093	0.0723	N	0.08118	0	0.58432	D	0.999997	B;B	0.27229	0.0;0.172	B;B	0.23716	0.0;0.048	T	0.36432	-0.9748	10	0.05525	T	0.97	-10.0894	11.4484	0.50138	0.2002:0.1288:0.6711:0.0	.	39;39	O94955;D6RG10	RHBT3_HUMAN;.	D	45;39;39	ENSP00000423688:E45D;ENSP00000426479:E39D;ENSP00000369318:E39D	ENSP00000369318:E39D	E	+	3	2	RHOBTB3	95093433	0.339000	0.24784	0.955000	0.39395	0.997000	0.91878	-0.561000	0.05957	-0.970000	0.03569	0.557000	0.71058	GAG		0.637	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1		NM_014899		18	42	0	0	0	0.012319	0	18	42		
SNCAIP	9627	broad.mit.edu	37	5	121759135	121759135	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:121759135G>A	ENST00000261368.8	+	4	965	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E282K|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E235K|SNCAIP_ENST00000261367.7_Missense_Mutation_p.E282K|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E282K|SNCAIP_ENST00000504884.2_Intron	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	235			E -> G (in dbSNP:rs6867105).		cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GTCCACTGAAGAAACCGAGAT	0.458																																						uc003ksw.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(703-705)GAA>AAA		synuclein alpha interacting protein							68.0	69.0	69.0					5																	121759135		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121759135G>A	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.703G>A	5.37:g.121759135G>A	ENSP00000261368:p.Glu235Lys					SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.2_Missense_Mutation_p.E235K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E282K|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.E235K	p.E235K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	4	909	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	235					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.703G>A	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031385	0.35797	.	.	ENSG00000064692	ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000261367;ENST00000503116	T;T;T;T;T;T	0.13778	4.89;2.6;2.56;4.89;2.56;4.37	6.02	5.13	0.70059	.	0.575177	0.20765	N	0.086097	T	0.10895	0.0266	N	0.24115	0.695	0.80722	D	1	B;P;P;B	0.39862	0.418;0.692;0.493;0.1	B;B;B;B	0.36092	0.05;0.217;0.167;0.024	T	0.15954	-1.0419	9	.	.	.	-5.1751	17.2025	0.86909	0.0:0.126:0.874:0.0	.	235;282;282;235	D6R9G8;Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;.;SNCAP_HUMAN	K	235;235;282;235;282;282	ENSP00000422106:E235K;ENSP00000261368:E235K;ENSP00000368848:E282K;ENSP00000368851:E235K;ENSP00000261367:E282K;ENSP00000423199:E282K	.	E	+	1	0	SNCAIP	121787034	1.000000	0.71417	0.011000	0.14972	0.299000	0.27559	4.573000	0.60893	1.513000	0.48852	0.655000	0.94253	GAA		0.458	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1				23	39	0	0	0	0.00333	0	23	39		
PPIC	5480	broad.mit.edu	37	5	122364492	122364492	+	Silent	SNP	G	G	A	rs375762834		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:122364492G>A	ENST00000306442.4	-	3	418	c.303C>T	c.(301-303)atC>atT	p.I101I		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	101	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	CTCCAGTGGTGATGTCACCTC	0.393																																					Ovarian(99;690 1502 20765 45543 49568)	uc003kth.2		NaN																	0				ovary(1)	1						c.(301-303)ATC>ATT		peptidylprolyl isomerase C	L-Proline(DB00172)						150.0	118.0	129.0					5																	122364492		2203	4300	6503	SO:0001819	synonymous_variant	5480				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	g.chr5:122364492G>A	S71018	CCDS4133.1	5q23.2	2008-02-05			ENSG00000168938	ENSG00000168938	5.2.1.8		9256	protein-coding gene	gene with protein product		123842				1383094, 8031755	Standard	NM_000943		Approved	CYPC	uc003kth.3	P45877	OTTHUMG00000128921	ENST00000306442.4:c.303C>T	5.37:g.122364492G>A						PPIC_uc011cwp.1_3'UTR	p.I101I	NM_000943	NP_000934	P45877	PPIC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	3	408	-		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	101			PPIase cyclophilin-type.		A4LBB5	Silent	SNP	ENST00000306442.4	37	c.303C>T	CCDS4133.1																																																																																				0.393	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250898.2		NM_000943		13	28	0	0	0	0.003163	0	13	28		
FNIP1	96459	broad.mit.edu	37	5	131046318	131046318	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:131046318G>C	ENST00000510461.1	-	7	754	c.659C>G	c.(658-660)tCt>tGt	p.S220C	FNIP1_ENST00000307968.7_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.S220C|FNIP1_ENST00000307954.8_Missense_Mutation_p.S175C|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	220					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		ACCCTGCTCAGAGAATGCCCG	0.527																																						uc003kvs.1		NaN																	0				pancreas(1)|skin(1)	2						c.(658-660)TCT>TGT		folliculin interacting protein 1 isoform 1							43.0	39.0	41.0					5																	131046318		2203	4300	6503	SO:0001583	missense	96459				regulation of protein phosphorylation	cytoplasm	protein binding	g.chr5:131046318G>C	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.659C>G	5.37:g.131046318G>C	ENSP00000421985:p.Ser220Cys					RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Intron|FNIP1_uc010jdm.1_Missense_Mutation_p.S175C|FNIP1_uc003kvu.2_Missense_Mutation_p.S220C	p.S220C	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	7	801	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	220					D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.659C>G	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357488	0.82243	.	.	ENSG00000217128	ENST00000307954;ENST00000510461;ENST00000511848	T;T;T	0.27256	2.4;2.4;1.68	5.69	4.81	0.61882	.	.	.	.	.	T	0.47154	0.1430	L	0.58101	1.795	0.80722	D	1	D;D;D	0.76494	0.992;0.999;0.999	P;D;D	0.79108	0.79;0.992;0.927	T	0.39057	-0.9632	9	0.39692	T	0.17	-7.2226	16.0038	0.80344	0.0:0.0:0.8642:0.1358	.	220;220;220	A8K8V8;Q8TF40-2;Q8TF40	.;.;FNIP1_HUMAN	C	175;220;220	ENSP00000310453:S175C;ENSP00000421985:S220C;ENSP00000425619:S220C	ENSP00000310453:S175C	S	-	2	0	FNIP1	131074217	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.837000	0.99465	1.387000	0.46486	-0.181000	0.13052	TCT		0.527	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1		NM_133372		14	12	0	0	0	0.006122	0	14	12		
PCDHA8	56140	broad.mit.edu	37	5	140222358	140222358	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:140222358G>A	ENST00000531613.1	+	1	1452	c.1452G>A	c.(1450-1452)gcG>gcA	p.A484A	PCDHA8_ENST00000378123.3_Silent_p.A484A|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	484	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGACGCGCAGGAGAACG	0.657																																						uc003lhs.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1450-1452)GCG>GCA		protocadherin alpha 8 isoform 1 precursor							49.0	55.0	53.0					5																	140222358		2195	4261	6456	SO:0001819	synonymous_variant	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140222358G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1452G>A	5.37:g.140222358G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.A484A	p.A484A	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1452	+			484			Cadherin 5.|Extracellular (Potential).		B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.1452G>A	CCDS54919.1																																																																																				0.657	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2		NM_018911		44	69	0	0	0	0.01441	0	44	69		
KIAA0141	9812	broad.mit.edu	37	5	141314121	141314121	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:141314121G>A	ENST00000432126.2	+	10	1253	c.1119G>A	c.(1117-1119)gtG>gtA	p.V373V	KIAA0141_ENST00000194118.4_Silent_p.V373V	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	373					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGAGCTGTGAAATATCTTT	0.507																																						uc003lls.2		NaN																	0				skin(1)	1						c.(1117-1119)GTG>GTA		hypothetical protein LOC9812 precursor							137.0	133.0	134.0					5																	141314121		2203	4300	6503	SO:0001819	synonymous_variant	9812				apoptosis|regulation of caspase activity	mitochondrion	protein binding	g.chr5:141314121G>A	BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"""death ligand signal enhancer"""	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.1119G>A	5.37:g.141314121G>A						KIAA0141_uc003llt.2_Silent_p.V373V|KIAA0141_uc003llu.1_RNA	p.V373V	NM_001142603	NP_001136075	Q14154	DELE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1241	+		all_hematologic(541;0.118)	373			TPR 5.		Q969R4|Q96EU9	Silent	SNP	ENST00000432126.2	37	c.1119G>A	CCDS4268.1																																																																																				0.507	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251863.2		NM_014773		65	31	0	0	0	0.01441	0	65	31		
ARHGEF37	389337	broad.mit.edu	37	5	148999931	148999931	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:148999931C>T	ENST00000333677.6	+	8	1072	c.909C>T	c.(907-909)ttC>ttT	p.F303F		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	303	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TCCTCTACTTCAGGCCGCACG	0.512																																						uc003lra.1		NaN																	0					0						c.(907-909)TTC>TTT		hypothetical protein LOC389337							125.0	123.0	124.0					5																	148999931		1948	4137	6085	SO:0001819	synonymous_variant	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:148999931C>T	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.909C>T	5.37:g.148999931C>T							p.F303F	NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN			8	973	+			303			BAR.		Q6ZW51	Silent	SNP	ENST00000333677.6	37	c.909C>T	CCDS43385.1																																																																																				0.512	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1		NM_001001669		21	94	0	0	0	0.010818	0	21	94		
PDGFRB	5159	broad.mit.edu	37	5	149498309	149498309	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:149498309C>A	ENST00000261799.4	-	21	3374		c.e21+1			NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide						adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTCAACATACCTTTTTGTAA	0.557			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	uc003lro.2		NaN		Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP		MPD|AML|CMML|CML		0				central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17						c.e21+1		platelet-derived growth factor receptor beta	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						81.0	85.0	84.0					5																	149498309		2203	4300	6503	SO:0001630	splice_region_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149498309C>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2904+1G>T	5.37:g.149498309C>A						PDGFRB_uc010jhd.2_Splice_Site_p.K807_splice	p.K968_splice	NM_002609	NP_002600	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		21	3373	-		all_hematologic(541;0.224)						B5A957|Q8N5L4	Splice_Site	SNP	ENST00000261799.4	37	c.2904_splice	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269281	0.80469	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.958	0.92668	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDGFRB	149478502	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.280000	0.78610	2.478000	0.83669	0.561000	0.74099	.		0.557	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1		NM_002609	Intron	49	33	1	0	8.72158e-25	0.01441	9.44998e-25	49	33		
FAT2	2196	broad.mit.edu	37	5	150935954	150935954	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:150935954G>C	ENST00000261800.5	-	3	3596	c.3584C>G	c.(3583-3585)tCt>tGt	p.S1195C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1195	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGGCTGTAGATAGGAGACC	0.458																																						uc003lue.3		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(3583-3585)TCT>TGT		FAT tumor suppressor 2 precursor							150.0	122.0	132.0					5																	150935954		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150935954G>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3584C>G	5.37:g.150935954G>C	ENSP00000261800:p.Ser1195Cys					GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.S1195C	p.S1195C	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	3597	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1195			Extracellular (Potential).|Cadherin 10.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.3584C>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346254	0.82022	.	.	ENSG00000086570	ENST00000261800	T	0.02709	4.19	5.34	5.34	0.76211	Cadherin (4);Cadherin-like (1);	0.298732	0.29348	N	0.012409	T	0.18964	0.0455	M	0.92077	3.27	0.53005	D	0.999961	D	0.63046	0.992	P	0.58780	0.845	T	0.03335	-1.1047	10	0.51188	T	0.08	.	18.0263	0.89270	0.0:0.0:1.0:0.0	.	1195	Q9NYQ8	FAT2_HUMAN	C	1195	ENSP00000261800:S1195C	ENSP00000261800:S1195C	S	-	2	0	FAT2	150916147	1.000000	0.71417	0.911000	0.35937	0.837000	0.47467	3.527000	0.53517	2.501000	0.84356	0.650000	0.86243	TCT		0.458	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1		NM_001447		23	32	0	0	0	0.00632	0	23	32		
ATP6V0E1	8992	broad.mit.edu	37	5	172410891	172410891	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr5:172410891C>G	ENST00000519374.1	+	1	132	c.28C>G	c.(28-30)Ctc>Gtc	p.L10V	ATP6V0E1_ENST00000519911.1_Missense_Mutation_p.L10V|ATP6V0E1_ENST00000517669.1_Missense_Mutation_p.L10V|ATP6V0E1_ENST00000265093.4_Missense_Mutation_p.L10V	NM_003945.3	NP_003936.1	O15342	VA0E1_HUMAN	ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1	10					ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|response to amino acid (GO:0043200)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			lung(2)	2	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACTGTGCCTCTCATTGTGAT	0.617																																						uc003mcd.1		NaN																	0					0						c.(28-30)CTC>GTC		ATPase, H+ transporting, lysosomal 9kDa, V0							242.0	216.0	225.0					5																	172410891		2203	4300	6503	SO:0001583	missense	8992				ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification	endosome membrane|integral to membrane|membrane fraction|proton-transporting V-type ATPase, V0 domain|vacuole	proton-transporting ATPase activity, rotational mechanism	g.chr5:172410891C>G	Y15286	CCDS4383.1	5q35.2	2010-04-21	2006-10-12	2006-10-12	ENSG00000113732	ENSG00000113732		"""ATPases / V-type"""	863	protein-coding gene	gene with protein product		603931	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 9kD"", ""ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e"""	ATP6H, ATP6V0E		9556572, 14970230	Standard	NM_003945		Approved	M9.2	uc003mcd.1	O15342	OTTHUMG00000130518	ENST00000519374.1:c.28C>G	5.37:g.172410891C>G	ENSP00000429690:p.Leu10Val						p.L10V	NM_003945	NP_003936	O15342	VA0E1_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		1	129	+	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	10			Helical; (Potential).		B2R557|D3DQM1|Q6IBE8	Missense_Mutation	SNP	ENST00000519374.1	37	c.28C>G	CCDS4383.1	.	.	.	.	.	.	.	.	.	.	C	9.298	1.052444	0.19907	.	.	ENSG00000113732	ENST00000519374;ENST00000519911;ENST00000265093;ENST00000517669	.	.	.	5.34	0.881	0.19166	.	0.212093	0.47093	D	0.000244	T	0.16342	0.0393	.	.	.	0.37801	D	0.927719	B	0.06786	0.001	B	0.09377	0.004	T	0.23048	-1.0199	8	0.02654	T	1	-29.2604	1.6445	0.02759	0.371:0.2724:0.249:0.1076	.	10	O15342	VA0E1_HUMAN	V	10	.	ENSP00000265093:L10V	L	+	1	0	ATP6V0E1	172343497	0.358000	0.24947	0.990000	0.47175	0.979000	0.70002	0.455000	0.21843	0.637000	0.30526	0.655000	0.94253	CTC		0.617	ATP6V0E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252935.2		NM_003945		91	180	0	0	0	0.01441	0	91	180		
HIST1H3D	8351	broad.mit.edu	37	6	26197163	26197163	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:26197163C>T	ENST00000356476.2	-	1	315	c.316G>A	c.(316-318)Gag>Aag	p.E106K	HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_Missense_Mutation_p.E106K			P68431	H31_HUMAN	histone cluster 1, H3d	106					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.E106Q(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				TTGGTGTCCTCAAACAGCCCC	0.592																																					GBM(108;3816 4467)	uc003ngv.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(316-318)GAG>AAG		histone cluster 1, H3d							100.0	90.0	93.0					6																	26197163		2203	4300	6503	SO:0001583	missense	8351				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26197163C>T	Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"""Histones / Replication-dependent"""	4767	protein-coding gene	gene with protein product		602811	"""H3 histone family, member B"", ""histone 1, H3d"""	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.316G>A	6.37:g.26197163C>T	ENSP00000366999:p.Glu106Lys					HIST1H2BF_uc003ngx.2_5'Flank	p.E106K	NM_003530	NP_003521	P68431	H31_HUMAN			2	713	-		all_hematologic(11;0.196)	106					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000356476.2	37	c.316G>A	CCDS4590.1	.	.	.	.	.	.	.	.	.	.	.	17.71	3.456606	0.63401	.	.	ENSG00000197409	ENST00000356476;ENST00000377831	T;T	0.71341	-0.56;-0.56	4.13	4.13	0.48395	.	.	.	.	.	T	0.76983	0.4064	.	.	.	0.43852	D	0.996446	.	.	.	.	.	.	T	0.81448	-0.0928	6	0.87932	D	0	.	15.7469	0.77953	0.0:1.0:0.0:0.0	.	.	.	.	K	106	ENSP00000366999:E106K;ENSP00000367062:E106K	ENSP00000366999:E106K	E	-	1	0	HIST1H3D	26305142	1.000000	0.71417	0.959000	0.39883	0.979000	0.70002	4.630000	0.61297	2.012000	0.59069	0.655000	0.94253	GAG		0.592	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040096.1		NM_003530		61	67	0	0	0	0.01441	0	61	67		
VWA7	80737	broad.mit.edu	37	6	31735166	31735166	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:31735166C>T	ENST00000375688.4	-	12	1962	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375686.3_Missense_Mutation_p.E588K|SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000447450.1_Missense_Mutation_p.E588K			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	588						extracellular region (GO:0005576)											GGGGTGTCCTCAGCTGTGACC	0.592																																						uc011dog.1		NaN																	0				ovary(3)	3						c.(1762-1764)GAG>AAG		G7c protein precursor							81.0	81.0	81.0					6																	31735166		1511	2709	4220	SO:0001583	missense	80737					extracellular region		g.chr6:31735166C>T		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1762G>A	6.37:g.31735166C>T	ENSP00000364840:p.Glu588Lys					C6orf27_uc003nxd.2_Missense_Mutation_p.E263K	p.E588K	NM_025258	NP_079534	Q9Y334	G7C_HUMAN			12	2000	-			588					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.1762G>A	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	C	6.606	0.480200	0.12581	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.29397	2.76;2.54;1.57	5.54	0.108	0.14548	.	1.192370	0.05725	N	0.598461	T	0.03053	0.0090	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34153	-0.9840	10	0.07030	T	0.85	-1.045	5.162	0.15066	0.0:0.4118:0.1557:0.4325	.	588	Q9Y334	G7C_HUMAN	K	588	ENSP00000364840:E588K;ENSP00000364838:E588K;ENSP00000390554:E588K	ENSP00000364838:E588K	E	-	1	0	C6orf27	31843145	0.000000	0.05858	0.977000	0.42913	0.864000	0.49448	0.214000	0.17541	0.254000	0.21573	0.555000	0.69702	GAG		0.592	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2		NM_025258		36	53	0	0	0	0.01441	0	36	53		
BTNL2	56244	broad.mit.edu	37	6	32362585	32362585	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:32362585G>A	ENST00000374993.1	-	6	1295	c.1296C>T	c.(1294-1296)gaC>gaT	p.D432D	BTNL2_ENST00000374995.3_Silent_p.D338D|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000544175.1_Silent_p.D155D|BTNL2_ENST00000454136.3_Silent_p.D432D|BTNL2_ENST00000540315.1_Silent_p.D222D|HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000414363.1_Silent_p.D222D	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	432						integral component of membrane (GO:0016021)		p.D432D(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						AACAAGTGACGTCCACAGCGG	0.498																																						uc003obg.1		NaN																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1294-1296)GAC>GAT		butyrophilin-like 2							180.0	173.0	175.0					6																	32362585		2203	4300	6503	SO:0001819	synonymous_variant	56244					integral to membrane		g.chr6:32362585G>A	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.1296C>T	6.37:g.32362585G>A						BTNL2_uc010jty.1_Silent_p.D155D|BTNL2_uc010jtz.1_RNA|BTNL2_uc010jua.1_Silent_p.D222D	p.D432D	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN			6	1296	-			432			Extracellular (Potential).		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Silent	SNP	ENST00000374993.1	37	c.1296C>T																																																																																					0.498	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_019602		11	140	0	0	0	0.00245	0	11	140		
TAP1	6890	broad.mit.edu	37	6	32821186	32821186	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:32821186G>A	ENST00000354258.4	-	1	569	c.408C>T	c.(406-408)ctC>ctT	p.L136L	TAP1_ENST00000425148.2_5'Flank|PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000453265.2_5'Flank|PSMB9_ENST00000374859.2_5'Flank	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	136					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|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)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	CCGTTGCCCTGAGGACCCCGC	0.697																																						uc003ocg.2		NaN																	0				skin(1)	1						c.(406-408)CTC>CTT		transporter 1, ATP-binding cassette, sub-family							12.0	13.0	13.0					6																	32821186		1491	2699	4190	SO:0001819	synonymous_variant	6890				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32821186G>A		CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.408C>T	6.37:g.32821186G>A						TAP1_uc011dqi.1_5'Flank|PSMB9_uc011dqj.1_5'Flank|PSMB9_uc003sga.2_5'Flank	p.L136L	NM_000593	NP_000584	Q03518	TAP1_HUMAN			1	563	-			136			Helical; Name=2; (Potential).		Q16149|Q96CP4	Silent	SNP	ENST00000354258.4	37	c.408C>T	CCDS4758.1																																																																																				0.697	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2		NM_000593		5	10	0	0	0	0.001168	0	5	10		
PACSIN1	29993	broad.mit.edu	37	6	34499551	34499551	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:34499551C>G	ENST00000538621.1	+	9	1457	c.1212C>G	c.(1210-1212)ctC>ctG	p.L404L	PACSIN1_ENST00000244458.2_Silent_p.L404L|PACSIN1_ENST00000374043.2_Silent_p.L362L	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	404	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGGACGAGCTCAGCTTTAAGG	0.652																																						uc003ojo.2		NaN																	0					0						c.(1210-1212)CTC>CTG		protein kinase C and casein kinase substrate in							65.0	70.0	69.0					6																	34499551		2203	4300	6503	SO:0001819	synonymous_variant	29993				endocytosis		protein kinase activity	g.chr6:34499551C>G	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.1212C>G	6.37:g.34499551C>G						PACSIN1_uc003ojp.2_Silent_p.L404L	p.L404L	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN			9	1418	+			404			SH3.		Q9P2G8	Silent	SNP	ENST00000538621.1	37	c.1212C>G	CCDS4793.1																																																																																				0.652	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1				46	67	0	0	0	0.01441	0	46	67		
NFKBIE	4794	broad.mit.edu	37	6	44233167	44233167	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:44233167C>G	ENST00000275015.5	-	1	333	c.334G>C	c.(334-336)Gac>Cac	p.D112H		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	112					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGTTGCGGGTCCGCTTGGCAG	0.786																																						uc003oxe.1		NaN																	0				breast(2)	2						c.(334-336)GAC>CAC		nuclear factor of kappa light polypeptide gene							2.0	3.0	3.0					6																	44233167		1257	2844	4101	SO:0001583	missense	4794				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:44233167C>G	U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"""Ankyrin repeat domain containing"""	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.334G>C	6.37:g.44233167C>G	ENSP00000275015:p.Asp112His						p.D112H	NM_004556	NP_004547	O00221	IKBE_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		1	359	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		112					Q5T9V9	Missense_Mutation	SNP	ENST00000275015.5	37	c.334G>C	CCDS34463.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841476	0.71488	.	.	ENSG00000146232	ENST00000275015	T	0.57907	0.37	4.84	3.97	0.46021	.	.	.	.	.	T	0.25644	0.0624	N	0.19112	0.55	0.09310	N	1	D	0.58620	0.983	P	0.47075	0.536	T	0.05178	-1.0901	9	0.72032	D	0.01	-15.2019	9.0158	0.36168	0.0:0.8954:0.0:0.1046	.	112	O00221	IKBE_HUMAN	H	112	ENSP00000275015:D112H	ENSP00000275015:D112H	D	-	1	0	NFKBIE	44341145	0.000000	0.05858	0.006000	0.13384	0.108000	0.19459	0.074000	0.14662	1.019000	0.39547	0.462000	0.41574	GAC		0.786	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2				2	4	0	0	0	0.004672	0	2	4		
NFKBIE	4794	broad.mit.edu	37	6	44233256	44233256	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:44233256C>T	ENST00000275015.5	-	1	244	c.245G>A	c.(244-246)cGa>cAa	p.R82Q		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	82					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGACAAGGTTCGGAGCGCTGG	0.761																																						uc003oxe.1		NaN																	0				breast(2)	2						c.(244-246)CGA>CAA		nuclear factor of kappa light polypeptide gene							4.0	4.0	4.0					6																	44233256		1911	3796	5707	SO:0001583	missense	4794				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:44233256C>T	U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"""Ankyrin repeat domain containing"""	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.245G>A	6.37:g.44233256C>T	ENSP00000275015:p.Arg82Gln						p.R82Q	NM_004556	NP_004547	O00221	IKBE_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		1	270	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		82					Q5T9V9	Missense_Mutation	SNP	ENST00000275015.5	37	c.245G>A	CCDS34463.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488664	0.64074	.	.	ENSG00000146232	ENST00000275015	T	0.56275	0.47	4.86	-1.38	0.09027	.	.	.	.	.	T	0.09468	0.0233	N	0.08118	0	0.09310	N	1	B	0.22211	0.066	B	0.04013	0.001	T	0.20075	-1.0286	9	0.49607	T	0.09	-36.9852	1.7128	0.02895	0.1244:0.2517:0.3565:0.2674	.	82	O00221	IKBE_HUMAN	Q	82	ENSP00000275015:R82Q	ENSP00000275015:R82Q	R	-	2	0	NFKBIE	44341234	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.378000	0.02556	-0.066000	0.12998	-0.145000	0.13849	CGA		0.761	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2				3	5	0	0	0	0.009096	0	3	5		
NFKBIE	4794	broad.mit.edu	37	6	44233273	44233273	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:44233273C>T	ENST00000275015.5	-	1	227	c.228G>A	c.(226-228)tgG>tgA	p.W76*		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	76					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGGCCAGGTCCACCCAGCGG	0.771																																						uc003oxe.1		NaN																	0				breast(2)	2						c.(226-228)TGG>TGA		nuclear factor of kappa light polypeptide gene							5.0	5.0	5.0					6																	44233273		1946	3858	5804	SO:0001587	stop_gained	4794				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:44233273C>T	U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"""Ankyrin repeat domain containing"""	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.228G>A	6.37:g.44233273C>T	ENSP00000275015:p.Trp76*						p.W76*	NM_004556	NP_004547	O00221	IKBE_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		1	253	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		76					Q5T9V9	Nonsense_Mutation	SNP	ENST00000275015.5	37	c.228G>A	CCDS34463.1	.	.	.	.	.	.	.	.	.	.	C	36	5.841987	0.97016	.	.	ENSG00000146232	ENST00000275015	.	.	.	4.67	3.74	0.42951	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5439	12.5062	0.55981	0.0:0.8324:0.1675:0.0	.	.	.	.	X	76	.	ENSP00000275015:W76X	W	-	3	0	NFKBIE	44341251	0.002000	0.14202	0.114000	0.21550	0.517000	0.34286	1.437000	0.34991	2.300000	0.77407	0.650000	0.86243	TGG		0.771	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2				3	6	0	0	0	0.009096	0	3	6		
FAM83B	222584	broad.mit.edu	37	6	54735420	54735420	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:54735420C>A	ENST00000306858.7	+	2	492	c.376C>A	c.(376-378)Cat>Aat	p.H126N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	126										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCTCCTTTTTCATCCACCAAG	0.398																																						uc003pck.2		NaN																	0				ovary(6)	6						c.(376-378)CAT>AAT		hypothetical protein LOC222584							70.0	73.0	72.0					6																	54735420		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54735420C>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.376C>A	6.37:g.54735420C>A	ENSP00000304078:p.His126Asn						p.H126N	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			2	492	+	Lung NSC(77;0.0178)|Renal(3;0.122)		126					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.376C>A	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	9.249	1.040281	0.19669	.	.	ENSG00000168143	ENST00000306858	T	0.11385	2.78	5.66	4.76	0.60689	.	0.104591	0.64402	D	0.000004	T	0.04861	0.0131	L	0.33093	0.98	0.46356	D	0.999006	B	0.15719	0.014	B	0.17098	0.017	T	0.13361	-1.0512	10	0.59425	D	0.04	-23.612	15.3869	0.74708	0.1492:0.8508:0.0:0.0	.	126	Q5T0W9	FA83B_HUMAN	N	126	ENSP00000304078:H126N	ENSP00000304078:H126N	H	+	1	0	FAM83B	54843379	1.000000	0.71417	0.993000	0.49108	0.017000	0.09413	3.577000	0.53885	1.449000	0.47699	0.585000	0.79938	CAT		0.398	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1		XM_294139		16	35	1	0	5.03518e-11	0.007413	5.28159e-11	16	35		
IMPG1	3617	broad.mit.edu	37	6	76734920	76734920	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:76734920T>A	ENST00000369950.3	-	5	742	c.553A>T	c.(553-555)Att>Ttt	p.I185F	IMPG1_ENST00000369963.3_Missense_Mutation_p.I107F	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.I185F(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCTGTTGAAATGACAATGGTT	0.323																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(553-555)ATT>TTT		interphotoreceptor matrix proteoglycan 1							109.0	114.0	112.0					6																	76734920		2203	4297	6500	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76734920T>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.553A>T	6.37:g.76734920T>A	ENSP00000358966:p.Ile185Phe						p.I185F	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			5	683	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	185						Missense_Mutation	SNP	ENST00000369950.3	37	c.553A>T	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	T	1.489	-0.555254	0.03967	.	.	ENSG00000112706	ENST00000369950;ENST00000369963	T;T	0.79554	2.14;-1.28	5.02	-9.67	0.00531	.	1.385570	0.04415	N	0.366601	T	0.17874	0.0429	N	0.00823	-1.155	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	9	.	.	.	.	2.7147	0.05184	0.1498:0.1919:0.4037:0.2546	.	185	Q17R60	IMPG1_HUMAN	F	185;107	ENSP00000358966:I185F;ENSP00000358980:I107F	.	I	-	1	0	IMPG1	76791640	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.550000	0.02180	-1.330000	0.02255	-2.210000	0.00300	ATT		0.323	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1		NM_001563		15	49	0	0	0	0.007413	0	15	49		
CEP162	22832	broad.mit.edu	37	6	84872884	84872884	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:84872884C>T	ENST00000403245.3	-	19	2605	c.2491G>A	c.(2491-2493)Gat>Aat	p.D831N	KIAA1009_ENST00000257766.4_Missense_Mutation_p.D755N|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GCAATCTGATCTTTGGCTTGG	0.333																																						uc010kbp.2		NaN																	0				ovary(1)	1						c.(2491-2493)GAT>AAT		KIAA1009 protein							264.0	236.0	245.0					6																	84872884		2203	4300	6503	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84872884C>T																												ENST00000403245.3:c.2491G>A	6.37:g.84872884C>T	ENSP00000385215:p.Asp831Asn					KIAA1009_uc003pkj.3_Missense_Mutation_p.D755N|KIAA1009_uc003pki.3_Missense_Mutation_p.D217N	p.D831N	NM_014895	NP_055710	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	19	2588	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	831			Potential.			Missense_Mutation	SNP	ENST00000403245.3	37	c.2491G>A	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416297	0.42918	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.30981	1.51;1.51	5.39	4.5	0.54988	.	0.172294	0.40554	N	0.001073	T	0.09202	0.0227	L	0.31420	0.93	0.32002	N	0.603181	B	0.17667	0.023	B	0.14023	0.01	T	0.11842	-1.0571	10	0.16420	T	0.52	-14.4484	11.3263	0.49450	0.0:0.8557:0.0:0.1443	.	831	Q5TB80	QN1_HUMAN	N	755;831	ENSP00000257766:D755N;ENSP00000385215:D831N	ENSP00000257766:D755N	D	-	1	0	KIAA1009	84929603	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.308000	0.43690	2.670000	0.90874	0.563000	0.77884	GAT		0.333	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1				25	79	0	0	0	0.007291	0	25	79		
RFPL4B	442247	broad.mit.edu	37	6	112671645	112671645	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:112671645C>G	ENST00000441065.2	+	3	1047	c.735C>G	c.(733-735)ttC>ttG	p.F245L	RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	245	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GTCCATTCTTCTGTCTTGAGC	0.438																																						uc003pvx.1		NaN																	0					0						c.(733-735)TTC>TTG		ret finger protein-like 4B							66.0	63.0	64.0					6																	112671645		2192	4278	6470	SO:0001583	missense	442247						zinc ion binding	g.chr6:112671645C>G	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.735C>G	6.37:g.112671645C>G	ENSP00000423391:p.Phe245Leu						p.F245L	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	3	1047	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	245			B30.2/SPRY.		A2RU91	Missense_Mutation	SNP	ENST00000441065.2	37	c.735C>G	CCDS34515.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884640	0.51908	.	.	ENSG00000251258	ENST00000441065	T	0.75938	-0.98	4.26	2.11	0.27256	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.36482	N	0.002572	T	0.66809	0.2827	M	0.66939	2.045	0.32079	N	0.593401	D	0.56035	0.974	P	0.53912	0.737	T	0.65340	-0.6192	10	0.59425	D	0.04	.	6.836	0.23937	0.0:0.6919:0.0:0.3081	.	245	Q6ZWI9	RFPLB_HUMAN	L	245	ENSP00000423391:F245L	ENSP00000423391:F245L	F	+	3	2	RFPL4B	112778338	0.327000	0.24678	0.572000	0.28498	0.063000	0.16089	0.330000	0.19715	0.514000	0.28300	0.655000	0.94253	TTC		0.438	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2		NM_001013734		28	19	0	0	0	0.003755	0	28	19		
TAAR5	9038	broad.mit.edu	37	6	132909813	132909813	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:132909813C>G	ENST00000258034.2	-	1	1064	c.1013G>C	c.(1012-1014)tGa>tCa	p.*338S		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	0					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		TAGAAGGAATCATTCTTGGTA	0.488																																						uc003qdk.2		NaN																	0				skin(1)	1						c.(1012-1014)TGA>TCA		trace amine associated receptor 5							75.0	70.0	72.0					6																	132909813		2203	4300	6503	SO:0001578	stop_lost	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132909813C>G	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.1013G>C	6.37:g.132909813C>G							p.*338S	NM_003967	NP_003958	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	1065	-	Breast(56;0.112)		338					D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Nonstop_Mutation	SNP	ENST00000258034.2	37	c.1013G>C	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122204	0.37436	.	.	ENSG00000135569	ENST00000258034	.	.	.	5.04	3.25	0.37280	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2204	0.15366	0.0:0.6898:0.0:0.3102	.	.	.	.	S	338	.	.	X	-	2	2	TAAR5	132951506	0.062000	0.20869	0.978000	0.43139	0.967000	0.64934	-0.064000	0.11636	1.485000	0.48380	0.563000	0.77884	TGA		0.488	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1		NM_003967		32	27	0	0	0	0.009718	0	32	27		
FBXO30	84085	broad.mit.edu	37	6	146127103	146127103	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:146127103C>T	ENST00000237281.4	-	2	605	c.439G>A	c.(439-441)Gat>Aat	p.D147N		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	147							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GATACTTTATCAGTTGCTTTT	0.403																																						uc003qla.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(439-441)GAT>AAT		F-box only protein 30							167.0	168.0	167.0					6																	146127103		2203	4300	6503	SO:0001583	missense	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146127103C>T	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.439G>A	6.37:g.146127103C>T	ENSP00000237281:p.Asp147Asn					uc003qky.1_Intron	p.D147N	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	638	-		Ovarian(120;0.0776)	147					Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	c.439G>A	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	C	4.359	0.066143	0.08388	.	.	ENSG00000118496	ENST00000237281	T	0.34859	1.34	5.82	5.82	0.92795	.	0.510910	0.23604	N	0.046406	T	0.16257	0.0391	L	0.44542	1.39	0.41494	D	0.98824	B	0.02656	0.0	B	0.04013	0.001	T	0.04360	-1.0957	10	0.28530	T	0.3	-10.3705	10.4746	0.44657	0.0:0.856:0.0:0.144	.	147	Q8TB52	FBX30_HUMAN	N	147	ENSP00000237281:D147N	ENSP00000237281:D147N	D	-	1	0	FBXO30	146168796	1.000000	0.71417	1.000000	0.80357	0.241000	0.25554	3.813000	0.55636	2.744000	0.94065	0.585000	0.79938	GAT		0.403	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2				53	36	0	0	0	0.01441	0	53	36		
RAET1E	135250	broad.mit.edu	37	6	150209697	150209697	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:150209697G>A	ENST00000357183.4	-	4	861	c.729C>T	c.(727-729)ctC>ctT	p.L243L	RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000367363.3_Silent_p.L207L|RAET1E-AS1_ENST00000446954.2_RNA|RAET1E_ENST00000532335.1_Intron	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	243					antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		AGACACAGATGAGAACAATTC	0.473																																						uc003qnl.1		NaN																	0					0						c.(727-729)CTC>CTT		retinoic acid early transcript 1E precursor							122.0	109.0	113.0					6																	150209697		2203	4300	6503	SO:0001819	synonymous_variant	135250				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150209697G>A	AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.729C>T	6.37:g.150209697G>A						uc003qni.1_Intron|RAET1E_uc003qnj.2_Intron|RAET1E_uc003qnk.1_Silent_p.L207L|RAET1E_uc010kih.1_RNA	p.L243L	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	4	789	-		Ovarian(120;0.0907)	243			Helical; (Potential).		A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Silent	SNP	ENST00000357183.4	37	c.729C>T	CCDS5221.1																																																																																				0.473	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1		NM_139165		34	71	0	0	0	0.00874	0	34	71		
RAET1E	135250	broad.mit.edu	37	6	150210554	150210554	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:150210554G>C	ENST00000357183.4	-	3	684	c.552C>G	c.(550-552)ctC>ctG	p.L184L	RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000367363.3_Silent_p.L148L|RAET1E-AS1_ENST00000446954.2_RNA|RAET1E_ENST00000529948.1_Silent_p.L184L|RAET1E_ENST00000532335.1_Silent_p.L184L	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	184	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CTCCCTTTGAGAGCTTCCTGA	0.493																																						uc003qnl.1		NaN																	0					0						c.(550-552)CTC>CTG		retinoic acid early transcript 1E precursor							144.0	137.0	139.0					6																	150210554		2203	4300	6503	SO:0001819	synonymous_variant	135250				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150210554G>C	AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.552C>G	6.37:g.150210554G>C						uc003qni.1_Intron|RAET1E_uc003qnj.2_Silent_p.L184L|RAET1E_uc003qnk.1_Silent_p.L148L|RAET1E_uc010kih.1_RNA	p.L184L	NM_139165	NP_631904	Q8TD07	N2DL4_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	3	612	-		Ovarian(120;0.0907)	184			Extracellular (Potential).|MHC class I alpha-2 like.		A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Silent	SNP	ENST00000357183.4	37	c.552C>G	CCDS5221.1																																																																																				0.493	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1		NM_139165		24	42	0	0	0	0.005443	0	24	42		
SYNJ2	8871	broad.mit.edu	37	6	158449892	158449892	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr6:158449892C>T	ENST00000355585.4	+	3	394	c.319C>T	c.(319-321)Ctt>Ttt	p.L107F	SYNJ2_ENST00000449859.2_Missense_Mutation_p.L56F|SYNJ2_ENST00000367121.3_Missense_Mutation_p.L107F|SYNJ2_ENST00000367122.2_Missense_Mutation_p.L107F	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	107					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTTTTACCCTCTTCAGGAAGA	0.502																																						uc003qqx.1		NaN																	0				skin(1)	1						c.(319-321)CTT>TTT		synaptojanin 2							73.0	75.0	74.0					6																	158449892		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158449892C>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.319C>T	6.37:g.158449892C>T	ENSP00000347792:p.Leu107Phe					SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Missense_Mutation_p.L107F|SYNJ2_uc003qqy.1_5'UTR|SYNJ2_uc011efn.1_Missense_Mutation_p.L56F|SYNJ2_uc010kjo.1_Missense_Mutation_p.L56F	p.L107F	NM_003898	NP_003889	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	3	394	+			107					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.319C>T	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106541	0.56291	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449320;ENST00000449859	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	4.87	4.87	0.63330	Synaptojanin, N-terminal (1);	0.000000	0.50627	D	0.000106	T	0.78084	0.4228	M	0.83774	2.66	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.82816	-0.0270	10	0.87932	D	0	.	18.2156	0.89884	0.0:1.0:0.0:0.0	.	56;107;107;107	B4DJU8;E7ER60;O15056;O15056-3	.;.;SYNJ2_HUMAN;.	F	107;107;107;56;56	ENSP00000356089:L107F;ENSP00000356088:L107F;ENSP00000347792:L107F;ENSP00000411202:L56F;ENSP00000388371:L56F	ENSP00000347792:L107F	L	+	1	0	SYNJ2	158369880	1.000000	0.71417	0.113000	0.21522	0.317000	0.28152	5.498000	0.66931	2.038000	0.60285	0.533000	0.62120	CTT		0.502	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2				23	16	0	0	0	0.007291	0	23	16		
RSPH10B	222967	broad.mit.edu	37	7	5967926	5967926	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:5967926T>C	ENST00000405415.1	-	19	2719	c.2333A>G	c.(2332-2334)aAa>aGa	p.K778R	RSPH10B_ENST00000441023.2_Missense_Mutation_p.K778R|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000404406.1_Missense_Mutation_p.K778R|RSPH10B_ENST00000535104.1_5'UTR|RSPH10B_ENST00000337579.3_Missense_Mutation_p.K778R			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	778										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		TTCTTCACGTTTATACGCATG	0.463																																						uc003sph.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2332-2334)AAA>AGA		radial spoke head 10 homolog B							242.0	224.0	230.0					7																	5967926		2202	4300	6502	SO:0001583	missense	728194							g.chr7:5967926T>C		CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.2333A>G	7.37:g.5967926T>C	ENSP00000385443:p.Lys778Arg					RSPH10B2_uc003spg.1_Intron|RSPH10B2_uc010ktd.1_Missense_Mutation_p.K778R|RSPH10B2_uc011jwk.1_3'UTR	p.K778R	NM_173565	NP_775836	B2RC85	R10B2_HUMAN			20	2604	-			778					A6NMW7|Q86ST9|Q8NE68	Missense_Mutation	SNP	ENST00000405415.1	37	c.2333A>G	CCDS34598.1	.	.	.	.	.	.	.	.	.	.	T	10.71	1.426734	0.25726	.	.	ENSG00000155026	ENST00000405415;ENST00000404406;ENST00000337579;ENST00000441023	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	4.94	3.66	0.41972	.	0.751372	0.11597	N	0.548107	T	0.49558	0.1564	M	0.68952	2.095	0.21719	N	0.999573	B	0.12013	0.005	B	0.11329	0.006	T	0.47169	-0.9138	10	0.56958	D	0.05	.	6.9891	0.24745	0.0:0.1365:0.0:0.8635	.	778	P0C881	R10B1_HUMAN	R	778	ENSP00000385443:K778R;ENSP00000384097:K778R;ENSP00000338556:K778R;ENSP00000400988:K778R	ENSP00000338556:K778R	K	-	2	0	RSPH10B	5934452	0.419000	0.25449	0.008000	0.14137	0.014000	0.08584	1.112000	0.31172	0.733000	0.32492	0.519000	0.50382	AAA		0.463	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325465.2		NM_173565		28	177	0	0	0	0.01441	0	28	177		
CDCA7L	55536	broad.mit.edu	37	7	21947797	21947797	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:21947797G>A	ENST00000406877.3	-	4	911	c.632C>T	c.(631-633)tCa>tTa	p.S211L	CDCA7L_ENST00000356195.5_Missense_Mutation_p.S177L|CDCA7L_ENST00000373934.4_Missense_Mutation_p.S165L|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	211					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CAAAGCATCTGAACTCTCCTG	0.498																																						uc010kuk.2		NaN																	0					0						c.(631-633)TCA>TTA		cell division cycle associated 7-like isoform 1							76.0	67.0	70.0					7																	21947797		2203	4300	6503	SO:0001583	missense	55536				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr7:21947797G>A		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.632C>T	7.37:g.21947797G>A	ENSP00000383986:p.Ser211Leu					CDCA7L_uc003sve.3_Missense_Mutation_p.S177L|CDCA7L_uc010kul.2_Missense_Mutation_p.S165L|CDCA7L_uc003svf.3_Missense_Mutation_p.S210L|CDCA7L_uc011jyk.1_Missense_Mutation_p.S211L	p.S211L	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN			4	752	-			211					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.632C>T	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573689	0.86542	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934	T;T;T	0.49139	0.8;0.79;0.8	5.71	4.83	0.62350	.	0.120637	0.56097	D	0.000021	T	0.67059	0.2853	M	0.72894	2.215	0.38826	D	0.955733	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.71656	0.942;0.922;0.942;0.974	T	0.69971	-0.5000	10	0.38643	T	0.18	-13.0552	16.7656	0.85523	0.0:0.1292:0.8708:0.0	.	211;165;211;210	A8K8X5;C9K0Y1;Q96GN5;Q96GN5-2	.;.;CDA7L_HUMAN;.	L	177;211;165	ENSP00000348523:S177L;ENSP00000383986:S211L;ENSP00000363045:S165L	ENSP00000348523:S177L	S	-	2	0	CDCA7L	21914322	1.000000	0.71417	0.169000	0.22859	0.907000	0.53573	6.455000	0.73497	1.395000	0.46643	0.563000	0.77884	TCA		0.498	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4		NM_018719		10	10	0	0	0	0.008291	0	10	10		
URGCP	55665	broad.mit.edu	37	7	43916794	43916794	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:43916794C>G	ENST00000453200.1	-	6	2761	c.2268G>C	c.(2266-2268)ttG>ttC	p.L756F	URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Missense_Mutation_p.L713F|URGCP_ENST00000447717.3_Missense_Mutation_p.L713F|URGCP_ENST00000402306.3_Missense_Mutation_p.L747F|URGCP_ENST00000223341.7_Missense_Mutation_p.L713F|URGCP_ENST00000336086.6_Missense_Mutation_p.L713F			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	756	VLIG-type G.		L -> F (in dbSNP:rs2232107).		cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCCACCTATCAAGCCCCCGG	0.597																																						uc003tiw.2		NaN																	0				ovary(2)|liver(1)|skin(1)	4						c.(2266-2268)TTG>TTC		up-regulated gene 4 isoform 3							42.0	44.0	43.0					7																	43916794		2038	4209	6247	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43916794C>G		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.2268G>C	7.37:g.43916794C>G	ENSP00000396918:p.Leu756Phe					URGCP_uc003tiu.2_Missense_Mutation_p.L713F|URGCP_uc003tiv.2_Missense_Mutation_p.L681F|URGCP_uc003tix.2_Missense_Mutation_p.L747F|URGCP_uc003tiy.2_Missense_Mutation_p.L713F|URGCP_uc003tiz.2_Missense_Mutation_p.L713F|URGCP_uc011kbj.1_Missense_Mutation_p.L713F	p.L756F	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			6	2325	-			756					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.2268G>C	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450097	0.84101	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.51	4.62	0.57501	GTP1/OBG (1);	0.320352	0.24846	N	0.035138	T	0.75155	0.3811	M	0.72118	2.19	0.09310	N	1	D;D	0.58620	0.983;0.983	D;D	0.63597	0.916;0.916	T	0.68081	-0.5503	10	0.62326	D	0.03	-17.0678	12.4804	0.55839	0.0:0.9167:0.0:0.0833	.	747;756	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	F	713;713;747;713;756;713	ENSP00000223341:L713F;ENSP00000336872:L713F;ENSP00000384955:L747F;ENSP00000392136:L713F;ENSP00000396918:L756F;ENSP00000402803:L713F	ENSP00000223341:L713F	L	-	3	2	URGCP	43883319	0.984000	0.35163	0.054000	0.19295	0.969000	0.65631	0.703000	0.25646	1.294000	0.44707	0.591000	0.81541	TTG		0.597	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1		NM_001077664		19	21	0	0	0	0.012319	0	19	21		
OGDH	4967	broad.mit.edu	37	7	44664045	44664045	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:44664045C>T	ENST00000222673.5	+	2	145	c.103C>T	c.(103-105)Caa>Taa	p.Q35*	OGDH_ENST00000543843.1_5'Flank|OGDH_ENST00000449767.1_Nonsense_Mutation_p.Q35*|OGDH_ENST00000447398.1_Nonsense_Mutation_p.Q35*|OGDH_ENST00000444676.1_Nonsense_Mutation_p.Q35*|OGDH_ENST00000443864.2_Nonsense_Mutation_p.Q35*|OGDH_ENST00000439616.2_Nonsense_Mutation_p.Q35*	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	35					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.Q35K(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TAGGACATTTCAACAGATTCG	0.468																																						uc003tln.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(103-105)CAA>TAA		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						204.0	184.0	191.0					7																	44664045		2203	4300	6503	SO:0001587	stop_gained	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44664045C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.103C>T	7.37:g.44664045C>T	ENSP00000222673:p.Gln35*					OGDH_uc003tlm.2_Nonsense_Mutation_p.Q35*|OGDH_uc011kbx.1_Nonsense_Mutation_p.Q35*|OGDH_uc011kby.1_Nonsense_Mutation_p.Q35*|OGDH_uc003tlp.2_Nonsense_Mutation_p.Q35*|OGDH_uc011kbz.1_5'UTR	p.Q35*	NM_002541	NP_002532	Q02218	ODO1_HUMAN			2	212	+			35					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Nonsense_Mutation	SNP	ENST00000222673.5	37	c.103C>T	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	C	37	6.569353	0.97671	.	.	ENSG00000105953	ENST00000439616;ENST00000443864;ENST00000449767;ENST00000447398;ENST00000419661;ENST00000444676;ENST00000222673	.	.	.	4.74	2.92	0.33932	.	0.345550	0.34460	N	0.003942	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-7.9215	8.9464	0.35762	0.0:0.7426:0.1708:0.0866	.	.	.	.	X	35	.	ENSP00000222673:Q35X	Q	+	1	0	OGDH	44630570	1.000000	0.71417	0.852000	0.33557	0.998000	0.95712	3.737000	0.55060	0.596000	0.29794	0.655000	0.94253	CAA		0.468	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1				101	124	0	0	0	0.01441	0	101	124		
TNS3	64759	broad.mit.edu	37	7	47454805	47454805	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:47454805C>T	ENST00000398879.1	-	11	840		c.e11-1		TNS3_ENST00000355730.3_Splice_Site|TNS3_ENST00000458317.2_Splice_Site|TNS3_ENST00000311160.9_Splice_Site|TNS3_ENST00000442536.2_Splice_Site			Q68CZ2	TENS3_HUMAN	tensin 3						cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTGAACATACCTGCAAAACGG	0.537																																						uc003tnv.2		NaN																	0				ovary(4)	4						c.e11-1		tensin 3							68.0	77.0	74.0					7																	47454805		2008	4178	6186	SO:0001630	splice_region_variant	64759					focal adhesion	protein binding	g.chr7:47454805C>T	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.474-1G>A	7.37:g.47454805C>T						TNS3_uc003tnw.2_Splice_Site_p.R158_splice|TNS3_uc010kyo.1_Splice_Site_p.R158_splice	p.R158_splice	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			11	841	-								B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Splice_Site	SNP	ENST00000398879.1	37	c.474_splice	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495402	0.44352	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000457718;ENST00000450444;ENST00000442536;ENST00000458317	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9987	0.64419	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNS3	47421330	1.000000	0.71417	0.997000	0.53966	0.293000	0.27360	6.503000	0.73699	2.456000	0.83038	0.655000	0.94253	.		0.537	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1		NM_022748	Intron	13	16	0	0	0	0.003163	0	13	16		
GSAP	54103	broad.mit.edu	37	7	77011907	77011907	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:77011907C>T	ENST00000257626.7	-	7	588	c.510G>A	c.(508-510)ctG>ctA	p.L170L		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	170					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										CTTCTGAAATCAGTAACAGAT	0.343																																						uc003ugf.2		NaN																	0				central_nervous_system(1)	1						c.(508-510)CTG>CTA		pigeon homolog							86.0	81.0	83.0					7																	77011907		1841	4085	5926	SO:0001819	synonymous_variant	54103				beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding	g.chr7:77011907C>T		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.510G>A	7.37:g.77011907C>T						PION_uc003ugg.1_5'UTR	p.L170L	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN			7	589	-			170					A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Silent	SNP	ENST00000257626.7	37	c.510G>A	CCDS34672.2																																																																																				0.343	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2		NM_017439		13	31	0	0	0	0.007413	0	13	31		
MAGI2	9863	broad.mit.edu	37	7	77649030	77649030	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:77649030C>T	ENST00000354212.4	-	22	4223	c.3970G>A	c.(3970-3972)Gcg>Acg	p.A1324T	MAGI2_ENST00000419488.1_Missense_Mutation_p.A1310T|MAGI2_ENST00000522391.1_3'UTR	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1324					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTCGGCCGCGCGGCCCTCTGC	0.761																																						uc003ugx.2		NaN																	0				ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(3970-3972)GCG>ACG		membrane associated guanylate kinase, WW and PDZ							12.0	15.0	14.0					7																	77649030		2119	4168	6287	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77649030C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3970G>A	7.37:g.77649030C>T	ENSP00000346151:p.Ala1324Thr					MAGI2_uc003ugy.2_Missense_Mutation_p.A1310T	p.A1324T	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			22	4224	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	1324					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.3970G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	c	15.02	2.709574	0.48517	.	.	ENSG00000187391	ENST00000419488;ENST00000354212	T;T	0.09350	2.99;2.99	4.09	4.09	0.47781	.	.	.	.	.	T	0.05868	0.0153	N	0.08118	0	0.80722	D	1	B;B	0.25743	0.133;0.082	B;B	0.14578	0.011;0.005	T	0.36601	-0.9741	9	0.13470	T	0.59	.	16.3809	0.83461	0.0:1.0:0.0:0.0	.	1310;1324	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	T	1310;1324	ENSP00000405766:A1310T;ENSP00000346151:A1324T	ENSP00000346151:A1324T	A	-	1	0	MAGI2	77486966	1.000000	0.71417	0.984000	0.44739	0.940000	0.58332	3.096000	0.50243	1.828000	0.53243	0.444000	0.29173	GCG		0.761	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3		NM_012301		4	4	0	0	0	0.009096	0	4	4		
DBF4	10926	broad.mit.edu	37	7	87529618	87529618	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:87529618G>A	ENST00000265728.1	+	9	1267	c.763G>A	c.(763-765)Gta>Ata	p.V255I		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	255					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TCCATTTGATGTAGACAAGCC	0.323																																						uc003ujf.1		NaN																	0				lung(2)	2						c.(763-765)GTA>ATA		activator of S phase kinase							64.0	67.0	66.0					7																	87529618		2200	4290	6490	SO:0001583	missense	10926				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:87529618G>A	AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"""Zinc fingers, DBF-type"""	17364	protein-coding gene	gene with protein product	"""activator of S phase kinase"", ""chiffon homolog (Drosophila)"", ""zinc finger, DBF-type containing 1"", ""DBF4 zinc finger A"""	604281	"""DBF4 homolog (S. cerevisiae)"""			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.763G>A	7.37:g.87529618G>A	ENSP00000265728:p.Val255Ile					DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_Missense_Mutation_p.V31I|DBF4_uc011khf.1_Missense_Mutation_p.V22I	p.V255I	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN			9	1267	+	Esophageal squamous(14;0.00202)	Breast(660;0.0334)	255					A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	ENST00000265728.1	37	c.763G>A	CCDS5611.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803243	0.50315	.	.	ENSG00000006634	ENST00000265728	T	0.11063	2.81	5.49	-1.57	0.08506	.	0.930964	0.09087	N	0.850463	T	0.04952	0.0133	N	0.16368	0.405	0.24525	N	0.994144	B;B	0.13145	0.007;0.004	B;B	0.11329	0.006;0.004	T	0.45205	-0.9277	10	0.19590	T	0.45	0.0077	1.8795	0.03225	0.3108:0.1229:0.4404:0.1259	.	31;255	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	I	255	ENSP00000265728:V255I	ENSP00000265728:V255I	V	+	1	0	DBF4	87367554	0.998000	0.40836	0.809000	0.32408	0.990000	0.78478	0.496000	0.22499	-0.174000	0.10743	0.585000	0.79938	GTA		0.323	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253678.1		NM_006716		26	28	0	0	0	0.010818	0	26	28		
AKAP9	10142	broad.mit.edu	37	7	91736731	91736731	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:91736731G>C	ENST00000359028.2	+	48	11778	c.11553G>C	c.(11551-11553)caG>caC	p.Q3851H	AKAP9_ENST00000358100.2_Missense_Mutation_p.Q3797H|AKAP9_ENST00000356239.3_Missense_Mutation_p.Q3847H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3851					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TACCATTTCAGAATAGGTAAG	0.363			T	BRAF	papillary thyroid																																	uc003ulg.2		NaN		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(11539-11541)CAG>CAC		A-kinase anchor protein 9 isoform 2							86.0	83.0	84.0					7																	91736731		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91736731G>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11553G>C	7.37:g.91736731G>C	ENSP00000351922:p.Gln3851His					AKAP9_uc003ulf.2_Missense_Mutation_p.Q3839H|AKAP9_uc003uli.2_Missense_Mutation_p.Q3470H|AKAP9_uc003ulj.2_Missense_Mutation_p.Q1617H|AKAP9_uc003ull.2_Missense_Mutation_p.Q743H	p.Q3847H	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		48	11766	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3851					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.11541G>C		.	.	.	.	.	.	.	.	.	.	G	10.46	1.355831	0.24598	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03860	3.88;3.88;3.92;3.78	5.31	-4.73	0.03259	.	0.000000	0.35870	N	0.002927	T	0.03348	0.0097	L	0.40543	1.245	0.36668	D	0.878341	B;B;B;B;B	0.26258	0.005;0.145;0.006;0.01;0.01	B;B;B;B;B	0.29176	0.006;0.099;0.011;0.025;0.025	T	0.40308	-0.9570	10	0.23302	T	0.38	.	6.4782	0.22047	0.4578:0.2218:0.3203:0.0	.	1122;3851;3851;3847;3839	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	H	3847;3851;3797;3851;1693	ENSP00000348573:Q3847H;ENSP00000351922:Q3851H;ENSP00000350813:Q3797H;ENSP00000378042:Q1693H	ENSP00000348573:Q3847H	Q	+	3	2	AKAP9	91574667	0.000000	0.05858	0.974000	0.42286	0.955000	0.61496	-3.857000	0.00349	-0.624000	0.05611	-1.097000	0.02148	CAG		0.363	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			NM_005751		24	19	0	0	0	0.008361	0	24	19		
LMTK2	22853	broad.mit.edu	37	7	97822019	97822019	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:97822019G>C	ENST00000297293.5	+	11	2535	c.2242G>C	c.(2242-2244)Gaa>Caa	p.E748Q		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	748					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TCTTCAGACAGAACTTAAGAA	0.343																																						uc003upd.1		NaN																	0				lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16						c.(2242-2244)GAA>CAA		lemur tyrosine kinase 2 precursor							57.0	60.0	59.0					7																	97822019		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97822019G>C	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.2242G>C	7.37:g.97822019G>C	ENSP00000297293:p.Glu748Gln						p.E748Q	NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN			11	2535	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		748					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.2242G>C	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857277	0.91433	.	.	ENSG00000164715	ENST00000297293	T	0.80214	-1.35	5.77	5.77	0.91146	.	0.239216	0.49305	D	0.000149	T	0.81861	0.4912	M	0.69823	2.125	0.27292	N	0.957809	D	0.54397	0.966	P	0.46479	0.518	T	0.77627	-0.2517	10	0.35671	T	0.21	.	14.5958	0.68407	0.0721:0.0:0.9279:0.0	.	748	Q8IWU2	LMTK2_HUMAN	Q	748	ENSP00000297293:E748Q	ENSP00000297293:E748Q	E	+	1	0	LMTK2	97659955	0.997000	0.39634	0.094000	0.20943	0.942000	0.58702	3.159000	0.50731	2.885000	0.99019	0.655000	0.94253	GAA		0.343	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1		NM_014916		17	12	0	0	0	0.006122	0	17	12		
MEPCE	56257	broad.mit.edu	37	7	100028615	100028615	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:100028615G>A	ENST00000310512.2	+	1	1362	c.974G>A	c.(973-975)aGg>aAg	p.R325K	MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	325					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATCAACTGCAGGGATGAAGTG	0.627																																						uc003uuw.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(973-975)AGG>AAG		bin3, bicoid-interacting 3							141.0	124.0	129.0					7																	100028615		2203	4300	6503	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100028615G>A	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.974G>A	7.37:g.100028615G>A	ENSP00000308546:p.Arg325Lys					ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR	p.R325K	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN			1	1087	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		325					B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.974G>A	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872311	0.72180	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.73	4.73	0.59995	.	0.244955	0.33253	N	0.005110	T	0.40862	0.1134	L	0.34521	1.04	0.80722	D	1	B	0.32781	0.384	B	0.26517	0.07	T	0.34279	-0.9835	9	0.06365	T	0.9	-23.4327	15.2352	0.73422	0.0:0.0:1.0:0.0	.	325	Q7L2J0	MEPCE_HUMAN	K	325	.	ENSP00000308546:R325K	R	+	2	0	MEPCE	99866551	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.124000	0.50461	2.461000	0.83175	0.462000	0.41574	AGG		0.627	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1				78	110	0	0	0	0.01441	0	78	110		
ZAN	7455	broad.mit.edu	37	7	100334701	100334701	+	RNA	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:100334701C>T	ENST00000348028.3	+	0	688				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCTGCCCACCCGGGTAAGGCC	0.657																																						uc003uwj.2		NaN																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(523-525)CGG>TGG		zonadhesin isoform 3							6.0	6.0	6.0					7																	100334701		1793	3751	5544			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100334701C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100334701C>T						ZAN_uc003uwk.2_Missense_Mutation_p.R175W|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.R175W	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		5	688	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		175			MAM 1.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.523C>T		.	.	.	.	.	.	.	.	.	.	C	14.44	2.536275	0.45176	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.02301	4.35;4.35;4.35	4.11	0.934	0.19477	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	1.133610	0.06930	N	0.810945	T	0.02494	0.0076	L	0.45228	1.405	0.23943	N	0.996393	B;B	0.22683	0.059;0.073	B;B	0.15484	0.008;0.013	T	0.46289	-0.9202	10	0.48119	T	0.1	.	3.5107	0.07706	0.0:0.5439:0.214:0.2421	.	175;175	F5H0T8;Q9Y493	.;ZAN_HUMAN	W	175	ENSP00000445943:R175W;ENSP00000445091:R175W;ENSP00000444427:R175W	ENSP00000423579:R175W	R	+	1	2	ZAN	100172637	0.002000	0.14202	0.647000	0.29507	0.081000	0.17604	0.157000	0.16402	0.459000	0.27016	0.561000	0.74099	CGG		0.657	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1		NM_003386		9	0	0	0	0	0.013537	0	9	0		
ZAN	7455	broad.mit.edu	37	7	100382358	100382358	+	RNA	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:100382358G>A	ENST00000348028.3	+	0	6900				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCCTGCGCTGAGGGCTGCAT	0.612																																						uc003uwj.2		NaN																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(6736-6738)GAG>AAG		zonadhesin isoform 3							63.0	64.0	64.0					7																	100382358		2122	4238	6360			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100382358G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100382358G>A						ZAN_uc003uwk.2_Missense_Mutation_p.E2246K|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.E296K	p.E2246K	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		37	6901	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2246			Extracellular (Potential).|TIL 4.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.6736G>A		.	.	.	.	.	.	.	.	.	.	G	24.0	4.487585	0.84854	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8	4.24	4.24	0.50183	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.459032	0.16125	N	0.228449	D	0.94758	0.8308	.	.	.	0.32254	N	0.570994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.94546	0.7749	9	0.72032	D	0.01	.	12.861	0.57913	0.0:0.0:1.0:0.0	.	719;2245;2246	F5GX59;F5H0T8;Q9Y493	.;.;ZAN_HUMAN	K	2245;2245;2245;719	ENSP00000445943:E2245K;ENSP00000445091:E2245K;ENSP00000444427:E2245K;ENSP00000441117:E719K	ENSP00000445091:E2245K	E	+	1	0	ZAN	100220294	1.000000	0.71417	0.930000	0.37139	0.728000	0.41692	8.156000	0.89645	2.308000	0.77769	0.591000	0.81541	GAG		0.612	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1		NM_003386		23	36	0	0	0	0.003954	0	23	36		
MOGAT3	346606	broad.mit.edu	37	7	100843571	100843571	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:100843571C>T	ENST00000223114.4	-	3	398	c.232G>A	c.(232-234)Gag>Aag	p.E78K	MOGAT3_ENST00000379423.3_Missense_Mutation_p.E78K|MOGAT3_ENST00000440203.2_Missense_Mutation_p.E78K	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	78					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CTTATCCACTCCGAACGCCTT	0.562																																						uc003uyc.2		NaN																	0				ovary(2)	2						c.(232-234)GAG>AAG		monoacylglycerol O-acyltransferase 3							180.0	174.0	176.0					7																	100843571		2203	4300	6503	SO:0001583	missense	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100843571C>T	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.232G>A	7.37:g.100843571C>T	ENSP00000223114:p.Glu78Lys					MOGAT3_uc010lhr.2_Missense_Mutation_p.E78K	p.E78K	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN			3	399	-	Lung NSC(181;0.168)|all_lung(186;0.215)		78					Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	c.232G>A	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	.	3.769	-0.048115	0.07407	.	.	ENSG00000106384	ENST00000223114;ENST00000440203;ENST00000379423	T;T;T	0.13089	2.62;2.62;2.62	4.65	0.368	0.16146	.	1.255880	0.05558	N	0.568606	T	0.08714	0.0216	L	0.28458	0.855	0.09310	N	1	B;B	0.17667	0.019;0.023	B;B	0.15870	0.011;0.014	T	0.37865	-0.9687	10	0.08381	T	0.77	0.5808	4.3873	0.11323	0.0:0.3429:0.1721:0.485	.	78;78	Q86VF5-2;Q86VF5	.;MOGT3_HUMAN	K	78	ENSP00000223114:E78K;ENSP00000403756:E78K;ENSP00000368734:E78K	ENSP00000223114:E78K	E	-	1	0	MOGAT3	100630291	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.838000	0.04372	-0.115000	0.11915	-0.157000	0.13467	GAG		0.562	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3		NM_178176		81	128	0	0	0	0.01441	0	81	128		
ZC3HC1	51530	broad.mit.edu	37	7	129680905	129680905	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:129680905G>C	ENST00000358303.4	-	3	379	c.295C>G	c.(295-297)Cca>Gca	p.P99A	ZC3HC1_ENST00000311873.5_Missense_Mutation_p.P78A|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.P99A|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.P99A	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	99					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					CAGACGAGTGGAGACAGCTCA	0.413																																					Melanoma(115;540 1606 16325 28853 48167)	uc003vpi.2		NaN																	0					0						c.(295-297)CCA>GCA		zinc finger, C3HC type 1							188.0	185.0	186.0					7																	129680905		2203	4300	6503	SO:0001583	missense	51530				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding	g.chr7:129680905G>C	AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.295C>G	7.37:g.129680905G>C	ENSP00000351052:p.Pro99Ala					ZC3HC1_uc003vph.2_5'UTR|ZC3HC1_uc010lma.2_5'UTR	p.P99A	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN			3	322	-	Melanoma(18;0.0435)		99					A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	ENST00000358303.4	37	c.295C>G	CCDS34753.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466417	0.63625	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873;ENST00000481503;ENST00000480193	T;T;T;T	0.52754	1.23;0.65;1.21;0.66	5.9	4.09	0.47781	Zinc finger, C3HC-like (1);	0.000000	0.85682	D	0.000000	T	0.63260	0.2496	M	0.67517	2.055	0.53005	D	0.999965	D	0.89917	1.0	D	0.97110	1.0	T	0.60326	-0.7285	10	0.35671	T	0.21	-10.723	10.8247	0.46625	0.0712:0.1313:0.7974:0.0	.	99	Q86WB0	NIPA_HUMAN	A	99;99;78;99;99	ENSP00000351052:P99A;ENSP00000353933:P99A;ENSP00000309301:P78A;ENSP00000418533:P99A	ENSP00000309301:P78A	P	-	1	0	ZC3HC1	129468141	1.000000	0.71417	0.770000	0.31555	0.601000	0.36947	8.932000	0.92897	0.821000	0.34540	-0.302000	0.09304	CCA		0.413	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1		NM_016478		110	191	0	0	0	0.01441	0	110	191		
TMEM139	135932	broad.mit.edu	37	7	142983919	142983919	+	Silent	SNP	T	T	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:142983919T>C	ENST00000359333.3	+	3	1161	c.648T>C	c.(646-648)ccT>ccC	p.P216P	TMEM139_ENST00000409541.1_Silent_p.P216P|TMEM139_ENST00000471161.1_3'UTR|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000409102.1_Silent_p.P216P|CASP2_ENST00000310447.5_5'Flank|TMEM139_ENST00000409244.1_Silent_p.P216P|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000410004.1_Silent_p.P216P|CASP2_ENST00000392925.2_5'Flank	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	216						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					GGGCACCCCCTTAAATGACTC	0.468																																						uc010lov.2		NaN																	0					0						c.(646-648)CCT>CCC		transmembrane protein 139 precursor							128.0	125.0	126.0					7																	142983919		2203	4300	6503	SO:0001819	synonymous_variant	135932					integral to membrane		g.chr7:142983919T>C	AK075067	CCDS5878.1	7q34	2006-03-17			ENSG00000178826	ENSG00000178826			22058	protein-coding gene	gene with protein product							Standard	NM_153345		Approved	FLJ90586	uc003wck.4	Q8IV31	OTTHUMG00000152652	ENST00000359333.3:c.648T>C	7.37:g.142983919T>C						CASP2_uc003wco.2_5'Flank|CASP2_uc003wcp.2_5'Flank|CASP2_uc011kta.1_5'Flank|CASP2_uc003wcq.2_5'Flank|TMEM139_uc003wck.3_Silent_p.P216P|TMEM139_uc003wcl.2_Silent_p.P216P|TMEM139_uc003wcm.2_Silent_p.P216P|TMEM139_uc003wcn.2_RNA	p.P216P	NM_153345	NP_699176	Q8IV31	TM139_HUMAN			4	787	+	Melanoma(164;0.059)		216			Cytoplasmic (Potential).		B2RCL5|D3DXD4|Q6ZME2|Q8NC22|Q96AU8	Silent	SNP	ENST00000359333.3	37	c.648T>C	CCDS5878.1																																																																																				0.468	TMEM139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327145.1		NM_153345		3	164	0	0	0	0.004672	0	3	164		
ARHGEF35	445328	broad.mit.edu	37	7	143885433	143885433	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:143885433G>A	ENST00000378115.2	-	2	173	c.44C>T	c.(43-45)tCt>tTt	p.S15F	ARHGEF35_ENST00000543357.1_Missense_Mutation_p.S15F	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	15										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						CTCTATGGCAGAGATGGGAGG	0.512																																						uc003wdz.1		NaN																	0					0						c.(43-45)TCT>TTT		Rho guanine nucleotide exchange factor (GEF)							45.0	44.0	44.0					7																	143885433		1904	3403	5307	SO:0001583	missense	445328							g.chr7:143885433G>A	AK125680	CCDS34770.1	7q35	2012-07-24	2010-04-13	2010-04-13	ENSG00000213214	ENSG00000213214		"""Rho guanine nucleotide exchange factors"""	33846	protein-coding gene	gene with protein product			"""Rho guanine nucleotide exchange factor (GEF) 5-like"""	ARHGEF5L			Standard	NM_001003702		Approved	FLJ43692, CTAGE4	uc003wdz.2	A5YM69	OTTHUMG00000158010	ENST00000378115.2:c.44C>T	7.37:g.143885433G>A	ENSP00000367355:p.Ser15Phe						p.S15F	NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN			2	162	-			15					Q6ZUI2	Missense_Mutation	SNP	ENST00000378115.2	37	c.44C>T	CCDS34770.1	.	.	.	.	.	.	.	.	.	.	.	10.40	1.339048	0.24253	.	.	ENSG00000213214	ENST00000378115;ENST00000543357	.	.	.	2.73	2.73	0.32206	.	.	.	.	.	T	0.23410	0.0566	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.04013	0.001	T	0.17745	-1.0359	8	0.87932	D	0	.	9.0782	0.36536	0.0:0.0:1.0:0.0	.	15	A5YM69	ARG35_HUMAN	F	15	.	ENSP00000367355:S15F	S	-	2	0	ARHGEF35	143516366	0.182000	0.23173	0.109000	0.21407	0.147000	0.21601	4.091000	0.57700	1.541000	0.49316	0.184000	0.17185	TCT		0.512	ARHGEF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349997.1		NM_001003702		24	62	0	0	0	0.00632	0	24	62		
NOS3	4846	broad.mit.edu	37	7	150693932	150693932	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:150693932G>C	ENST00000484524.1	+	4	501	c.501G>C	c.(499-501)gaG>gaC	p.E167D	NOS3_ENST00000461406.1_Intron|NOS3_ENST00000467517.1_Missense_Mutation_p.E167D|NOS3_ENST00000297494.3_Missense_Mutation_p.E167D	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)		AGCTTAGGGAGAGCGAGCTGG	0.692																																						uc003wif.2		NaN																	0				central_nervous_system(5)|large_intestine(2)|skin(1)	8						c.(499-501)GAG>GAC		nitric oxide synthase 3 isoform 1	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						21.0	19.0	20.0					7																	150693932		2170	4275	6445	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.chr7:150693932G>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.501G>C	7.37:g.150693932G>C	ENSP00000420215:p.Glu167Asp					NOS3_uc011kuy.1_Intron|NOS3_uc011kuz.1_Missense_Mutation_p.E167D|NOS3_uc011kva.1_Missense_Mutation_p.E167D|NOS3_uc011kvb.1_Missense_Mutation_p.E167D	p.E167D	NM_000603	NP_000594	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	797	+	all_neural(206;0.219)		167			Interaction with NOSIP.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.501G>C	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	g	8.642	0.896167	0.17686	.	.	ENSG00000164867	ENST00000297494;ENST00000484524;ENST00000467517	T;T;T	0.23348	1.91;1.91;1.91	4.97	0.965	0.19661	Nitric oxide synthase, oxygenase domain (3);	0.106561	0.40302	N	0.001129	T	0.16854	0.0405	N	0.25485	0.75	0.36201	D	0.850725	B;B;B;B	0.20550	0.046;0.046;0.001;0.001	B;B;B;B	0.31751	0.093;0.135;0.007;0.004	T	0.17837	-1.0356	10	0.21014	T	0.42	-22.2823	8.2332	0.31610	0.3649:0.0:0.6351:0.0	.	167;167;167;167	A0S0A6;E9PFR2;A0S0A8;P29474	.;.;.;NOS3_HUMAN	D	167	ENSP00000297494:E167D;ENSP00000420215:E167D;ENSP00000420551:E167D	ENSP00000297494:E167D	E	+	3	2	NOS3	150324865	0.998000	0.40836	0.988000	0.46212	0.589000	0.36550	0.471000	0.22100	-0.040000	0.13580	-0.245000	0.11935	GAG		0.692	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1		NM_000603		7	11	0	0	0	0.006214	0	7	11		
KMT2C	58508	broad.mit.edu	37	7	151880184	151880184	+	Missense_Mutation	SNP	C	C	G	rs375389693		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:151880184C>G	ENST00000262189.6	-	35	5358	c.5140G>C	c.(5140-5142)Gat>Cat	p.D1714H	KMT2C_ENST00000355193.2_Missense_Mutation_p.D1714H	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1714					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)										TTCATGGAATCATTTGACATC	0.353																																						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.(5140-5142)GAT>CAT		myeloid/lymphoid or mixed-lineage leukemia 3		C	HIS/ASP	1,4405	2.1+/-5.4	0,1,2202	310.0	318.0	315.0		5140	5.1	0.2	7		315	0,8600		0,0,4300	no	missense	MLL3	NM_170606.2	81	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	1714/4912	151880184	1,13005	2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151880184C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5140G>C	7.37:g.151880184C>G	ENSP00000262189:p.Asp1714His					MLL3_uc003wkz.2_Missense_Mutation_p.D775H	p.D1714H	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)	35	5359	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1714					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.5140G>C	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598433	0.66332	2.27E-4	0.0	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83673	-1.74;-1.75	5.1	5.1	0.69264	.	0.000000	0.46145	D	0.000315	D	0.88577	0.6474	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.984	D	0.89484	0.3752	10	0.72032	D	0.01	.	18.9021	0.92446	0.0:1.0:0.0:0.0	.	1714;775	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	H	1714	ENSP00000262189:D1714H;ENSP00000347325:D1714H	ENSP00000262189:D1714H	D	-	1	0	MLL3	151511117	1.000000	0.71417	0.215000	0.23724	0.943000	0.58893	7.566000	0.82347	2.551000	0.86045	0.563000	0.77884	GAT		0.353	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				162	215	0	0	0	0.01441	0	162	215		
KMT2C	58508	broad.mit.edu	37	7	151891214	151891214	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:151891214C>G	ENST00000262189.6	-	31	4759		c.e31-1		KMT2C_ENST00000355193.2_Splice_Site	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C						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)										CCGCCAAGCTCTAGGAGATAA	0.418																																						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.e31-1		myeloid/lymphoid or mixed-lineage leukemia 3							82.0	80.0	81.0					7																	151891214		2203	4300	6503	SO:0001630	splice_region_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151891214C>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4541-1G>C	7.37:g.151891214C>G						MLL3_uc003wkz.2_Splice_Site_p.E575_splice	p.E1514_splice	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)	31	4760	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)						Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	SNP	ENST00000262189.6	37	c.4541_splice	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024206	0.35701	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.01	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8392	0.63428	0.0:0.9251:0.0:0.0749	.	.	.	.	.	-1	.	.	.	-	.	.	MLL3	151522147	1.000000	0.71417	0.996000	0.52242	0.312000	0.27988	3.565000	0.53798	2.592000	0.87571	0.650000	0.86243	.		0.418	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			Intron	30	32	0	0	0	0.012213	0	30	32		
DLGAP2	9228	broad.mit.edu	37	8	1645432	1645432	+	Silent	SNP	C	C	T	rs368740931		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:1645432C>T	ENST00000421627.2	+	11	2810	c.2676C>T	c.(2674-2676)aaC>aaT	p.N892N		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	971					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGCGGCTCAACGACTGGAAGA	0.612																																						uc003wpl.2		NaN																	0					0						c.(2674-2676)AAC>AAT		discs large-associated protein 2		C		1,4011		0,1,2005	59.0	66.0	64.0		2676	-5.2	0.0	8		64	0,8380		0,0,4190	no	coding-synonymous	DLGAP2	NM_004745.3		0,1,6195	TT,TC,CC		0.0,0.0249,0.0081		892/976	1645432	1,12391	2006	4190	6196	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1645432C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2676C>T	8.37:g.1645432C>T						DLGAP2_uc003wpm.2_Silent_p.N878N	p.N892N	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	11	2773	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	971					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.2676C>T	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	0.180	-1.063358	0.01950	2.49E-4	0.0	ENSG00000198010	ENST00000520901	.	.	.	5.06	-5.15	0.02866	.	.	.	.	.	T	0.52693	0.1750	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.52132	-0.8616	4	.	.	.	-9.4055	9.82	0.40876	0.0992:0.1878:0.0:0.713	.	.	.	.	M	895	.	.	T	+	2	0	DLGAP2	1632839	0.803000	0.28956	0.031000	0.17742	0.040000	0.13550	-0.098000	0.11024	-1.836000	0.01190	-1.134000	0.01955	ACG		0.612	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1		NM_004745		9	114	0	0	0	0.013537	0	9	114		
MFHAS1	9258	broad.mit.edu	37	8	8749555	8749555	+	Silent	SNP	G	G	A	rs375992541		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:8749555G>A	ENST00000276282.6	-	1	1600	c.1014C>T	c.(1012-1014)atC>atT	p.I338I		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	338										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TCAGCTCCACGATGGAGTCCG	0.637																																					Melanoma(103;1201 2045 17515 28966)	uc003wsj.1		NaN																	0					0						c.(1012-1014)ATC>ATT		malignant fibrous histiocytoma amplified		G		0,4406		0,0,2203	38.0	43.0	41.0		1014	-0.4	1.0	8		41	1,8599		0,1,4299	no	coding-synonymous	MFHAS1	NM_004225.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		338/1053	8749555	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9258							g.chr8:8749555G>A	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.1014C>T	8.37:g.8749555G>A							p.I338I	NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	1577	-		Hepatocellular(245;0.217)	338			LRR 12.		Q96CI0	Silent	SNP	ENST00000276282.6	37	c.1014C>T	CCDS34844.1																																																																																				0.637	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2		NM_004225		63	79	0	0	0	0.01441	0	63	79		
ENTPD4	9583	broad.mit.edu	37	8	23290508	23290508	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:23290508C>T	ENST00000358689.4	-	13	2017	c.1782G>A	c.(1780-1782)cgG>cgA	p.R594R	ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000417069.2_Silent_p.R586R	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	594					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		CCGAGCTGCTCCGGGGAGTGC	0.647																																						uc003xdl.2		NaN																	0				ovary(1)|kidney(1)	2						c.(1780-1782)CGG>CGA		ectonucleoside triphosphate diphosphohydrolase 4							29.0	33.0	32.0					8																	23290508		2203	4299	6502	SO:0001819	synonymous_variant	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23290508C>T	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1782G>A	8.37:g.23290508C>T						ENTPD4_uc011kzu.1_Intron|ENTPD4_uc003xdm.2_Silent_p.R586R	p.R594R	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	13	1946	-		Prostate(55;0.114)	594			Cytoplasmic (Potential).		D3DSS3|O15092	Silent	SNP	ENST00000358689.4	37	c.1782G>A	CCDS6041.1																																																																																				0.647	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1		NM_004901		22	27	0	0	0	0.00333	0	22	27		
YTHDF3	253943	broad.mit.edu	37	8	64099964	64099964	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:64099964C>T	ENST00000539294.1	+	4	1708	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_Silent_p.F275F	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	465	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			ATTTACTCTTCAGTGTGAATG	0.448																																						uc003xuy.2		NaN																	0					0						c.(1393-1395)TTC>TTT		YTH domain family, member 3							136.0	132.0	133.0					8																	64099964		1980	4155	6135	SO:0001819	synonymous_variant	253943							g.chr8:64099964C>T	BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.1392C>T	8.37:g.64099964C>T						YTHDF3_uc010lys.2_Silent_p.F409F|YTHDF3_uc003xuz.2_Silent_p.F409F|YTHDF3_uc003xva.2_Silent_p.F409F|YTHDF3_uc011len.1_Silent_p.F409F	p.F465F	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		5	1711	+	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	465			YTH.		B3KXL4|Q63Z37|Q659A3	Silent	SNP	ENST00000539294.1	37	c.1395C>T																																																																																					0.448	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_152758		22	27	0	0	0	0.004656	0	22	27		
YTHDF3	253943	broad.mit.edu	37	8	64100049	64100049	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:64100049C>G	ENST00000539294.1	+	4	1793	c.1477C>G	c.(1477-1479)Cag>Gag	p.Q493E	YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_Missense_Mutation_p.Q304E	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	494	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			TGTCTGGTCTCAGGATAAGTG	0.388																																						uc003xuy.2		NaN																	0					0						c.(1480-1482)CAG>GAG		YTH domain family, member 3							166.0	157.0	160.0					8																	64100049		1970	4172	6142	SO:0001583	missense	253943							g.chr8:64100049C>G	BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.1477C>G	8.37:g.64100049C>G	ENSP00000473496:p.Gln493Glu					YTHDF3_uc010lys.2_Missense_Mutation_p.Q438E|YTHDF3_uc003xuz.2_Missense_Mutation_p.Q438E|YTHDF3_uc003xva.2_Missense_Mutation_p.Q438E|YTHDF3_uc011len.1_Missense_Mutation_p.Q438E	p.Q494E	NM_152758	NP_689971	Q7Z739	YTHD3_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		5	1796	+	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	494			YTH.		B3KXL4|Q63Z37|Q659A3	Missense_Mutation	SNP	ENST00000539294.1	37	c.1480C>G																																																																																					0.388	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_152758		31	27	0	0	0	0.006999	0	31	27		
NCOA2	10499	broad.mit.edu	37	8	71068649	71068649	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:71068649G>A	ENST00000452400.2	-	11	2132	c.1951C>T	c.(1951-1953)Cag>Tag	p.Q651*	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	651					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|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)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GGCTCCATCTGATCAGATTTG	0.567			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	uc003xyn.1		NaN		Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	0				lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(1951-1953)CAG>TAG		nuclear receptor coactivator 2							95.0	93.0	93.0					8																	71068649		1991	4180	6171	SO:0001587	stop_gained	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71068649G>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1951C>T	8.37:g.71068649G>A	ENSP00000399968:p.Gln651*						p.Q651*	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		11	2113	-	Breast(64;0.201)		651					Q14CD2	Nonsense_Mutation	SNP	ENST00000452400.2	37	c.1951C>T	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	G	41	8.845815	0.98976	.	.	ENSG00000140396	ENST00000452400	.	.	.	5.77	5.77	0.91146	.	0.056304	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.9981	0.97395	0.0:0.0:1.0:0.0	.	.	.	.	X	651	.	ENSP00000399968:Q651X	Q	-	1	0	NCOA2	71231203	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.624000	0.98398	2.729000	0.93468	0.655000	0.94253	CAG		0.567	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1				48	85	0	0	0	0.01441	0	48	85		
GDAP1	54332	broad.mit.edu	37	8	75272520	75272520	+	Silent	SNP	G	G	T	rs149804782	byFrequency	TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:75272520G>T	ENST00000220822.7	+	3	539	c.459G>T	c.(457-459)ccG>ccT	p.P153P	GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Silent_p.P85P	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	153	GST C-terminal.				cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CCATGATCCCGGCTTATGCAA	0.418																																						uc003yah.2		NaN																	0					0						c.(457-459)CCG>CCT		ganglioside-induced differentiation-associated							162.0	148.0	153.0					8																	75272520		2203	4300	6503	SO:0001819	synonymous_variant	54332					cytoplasm		g.chr8:75272520G>T		CCDS34911.1, CCDS47877.1	8q13.3	2014-09-17	2012-02-09						15968	protein-coding gene	gene with protein product		606598	"""Charcot-Marie-Tooth neuropathy 4A"""	CMT4A		8268915, 11743579	Standard	NM_018972		Approved	CMT4	uc003yah.3	Q8TB36		ENST00000220822.7:c.459G>T	8.37:g.75272520G>T						GDAP1_uc011lfj.1_Silent_p.P38P|GDAP1_uc003yai.2_Silent_p.P85P	p.P153P	NM_018972	NP_061845	Q8TB36	GDAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)		3	538	+	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	153			GST C-terminal.		A8K957|E7FJF3|E7FJF4	Silent	SNP	ENST00000220822.7	37	c.459G>T	CCDS34911.1																																																																																				0.418	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379061.1		NM_018972		42	61	1	0	3.50607e-19	0.01441	3.74944e-19	42	61		
ZFHX4	79776	broad.mit.edu	37	8	77618708	77618708	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:77618708G>A	ENST00000521891.2	+	2	2833	c.2385G>A	c.(2383-2385)atG>atA	p.M795I	ZFHX4_ENST00000455469.2_Missense_Mutation_p.M795I|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.M795I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.M795I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	795					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCATAATATGATGCTTTTGC	0.483										HNSCC(33;0.089)																												uc003yav.2		NaN																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(2383-2385)ATG>ATA		zinc finger homeodomain 4							29.0	31.0	30.0					8																	77618708		2083	4217	6300	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618708G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2385G>A	8.37:g.77618708G>A	ENSP00000430497:p.Met795Ile	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.M795I|ZFHX4_uc003yau.1_Missense_Mutation_p.M795I|ZFHX4_uc003yaw.1_Missense_Mutation_p.M795I	p.M795I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2772	+			795					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2385G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674594	0.29693	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	4.91	4.91	0.64330	.	0.000000	0.52532	U	0.000073	T	0.62938	0.2469	M	0.79926	2.475	0.80722	D	1	P;P;P;P	0.48294	0.851;0.908;0.908;0.537	P;D;D;B	0.64144	0.838;0.922;0.922;0.316	T	0.66850	-0.5819	10	0.72032	D	0.01	.	18.6385	0.91386	0.0:0.0:1.0:0.0	.	795;795;795;795	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	I	795	ENSP00000430497:M795I;ENSP00000399605:M795I;ENSP00000050961:M795I;ENSP00000430848:M795I	ENSP00000050961:M795I	M	+	3	0	ZFHX4	77781263	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	2.699000	0.92147	0.585000	0.79938	ATG		0.483	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		6	13	0	0	0	0.001984	0	6	13		
ZFHX4	79776	broad.mit.edu	37	8	77763619	77763619	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:77763619G>C	ENST00000521891.2	+	10	4910	c.4462G>C	c.(4462-4464)Gag>Cag	p.E1488Q	ZFHX4_ENST00000455469.2_Missense_Mutation_p.E1443Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E1443Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E1462Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAGGAAATGGAGAGAGAGTA	0.502										HNSCC(33;0.089)																												uc003yav.2		NaN																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4327-4329)GAG>CAG		zinc finger homeodomain 4							53.0	49.0	51.0					8																	77763619		2028	4180	6208	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763619G>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4462G>C	8.37:g.77763619G>C	ENSP00000430497:p.Glu1488Gln	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.E1488Q|ZFHX4_uc003yaw.1_Missense_Mutation_p.E1443Q	p.E1443Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4714	+			1443					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4327G>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133600	0.56828	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53423	0.62;0.67;0.64;0.65	5.05	5.05	0.67936	.	0.000000	0.44688	U	0.000426	T	0.44993	0.1320	L	0.29908	0.895	0.58432	D	0.999999	P;P;P	0.50272	0.89;0.779;0.933	B;B;P	0.47251	0.34;0.295;0.542	T	0.27157	-1.0082	10	0.31617	T	0.26	.	18.5796	0.91166	0.0:0.0:1.0:0.0	.	1443;1443;1488	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Q	1488;1488;1443;1443;1462	ENSP00000430497:E1488Q;ENSP00000399605:E1443Q;ENSP00000050961:E1443Q;ENSP00000430848:E1462Q	ENSP00000050961:E1443Q	E	+	1	0	ZFHX4	77926174	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.657000	0.98554	2.629000	0.89072	0.555000	0.69702	GAG		0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		21	30	0	0	0	0.004656	0	21	30		
UBR5	51366	broad.mit.edu	37	8	103301750	103301750	+	Silent	SNP	G	G	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:103301750G>T	ENST00000520539.1	-	35	5250	c.4644C>A	c.(4642-4644)atC>atA	p.I1548I	UBR5_ENST00000220959.4_Silent_p.I1548I|UBR5_ENST00000519528.1_Intron|UBR5_ENST00000521922.1_Silent_p.I1542I	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1548					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)			GTGACTGGCTGATGCGCCTCT	0.473																																					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.(4642-4644)ATC>ATA		ubiquitin protein ligase E3 component n-recognin							136.0	127.0	130.0					8																	103301750		2203	4300	6503	SO:0001819	synonymous_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103301750G>T	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.4644C>A	8.37:g.103301750G>T						UBR5_uc003yks.1_Silent_p.I1548I	p.I1548I	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		35	4677	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1548					B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.4644C>A	CCDS34933.1																																																																																				0.473	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2		NM_015902		14	157	1	0	9.7654e-05	0.007413	0.00010009	14	157		
TRPS1	7227	broad.mit.edu	37	8	116616766	116616766	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:116616766G>A	ENST00000220888.5	-	3	1550	c.1391C>T	c.(1390-1392)tCa>tTa	p.S464L	TRPS1_ENST00000395715.3_Missense_Mutation_p.S477L|TRPS1_ENST00000519674.1_Missense_Mutation_p.S464L|TRPS1_ENST00000520276.1_Missense_Mutation_p.S468L|TRPS1_ENST00000519076.1_Intron			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	464					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AAGGCCGCCTGACTGCACTGC	0.433									Langer-Giedion syndrome																													uc003ynz.2		NaN																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(1390-1392)TCA>TTA		zinc finger transcription factor TRPS1							54.0	52.0	53.0					8																	116616766		1945	4159	6104	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116616766G>A	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1391C>T	8.37:g.116616766G>A	ENSP00000220888:p.Ser464Leu					TRPS1_uc011lhy.1_Missense_Mutation_p.S468L|TRPS1_uc003yny.2_Missense_Mutation_p.S477L|TRPS1_uc010mcy.2_Missense_Mutation_p.S464L	p.S464L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	1850	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		464					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.1391C>T		.	.	.	.	.	.	.	.	.	.	G	16.55	3.155588	0.57259	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	D;D;D;T	0.98747	-5.11;-5.08;-5.08;0.71	5.49	5.49	0.81192	.	0.244657	0.36002	N	0.002846	D	0.96399	0.8825	N	0.24115	0.695	0.47065	D	0.999309	B;B;B	0.26809	0.16;0.099;0.16	B;B;B	0.21917	0.037;0.016;0.037	D	0.93855	0.7148	10	0.87932	D	0	-2.4422	19.7383	0.96217	0.0:0.0:1.0:0.0	.	468;464;477	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	L	477;464;468;464	ENSP00000379065:S477L;ENSP00000220888:S464L;ENSP00000428680:S468L;ENSP00000429174:S464L	ENSP00000220888:S464L	S	-	2	0	TRPS1	116685941	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.804000	0.75186	2.735000	0.93741	0.591000	0.81541	TCA		0.433	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3		NM_014112		20	34	0	0	0	0.014323	0	20	34		
ASAP1	50807	broad.mit.edu	37	8	131138243	131138243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:131138243G>A	ENST00000518721.1	-	17	1701	c.1474C>T	c.(1474-1476)Cag>Tag	p.Q492*	ASAP1_ENST00000357668.1_Nonsense_Mutation_p.Q492*	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	492	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCCAAAGACTGAATGCGAGAA	0.383																																						uc003yta.1		NaN																	0				ovary(4)	4						c.(1474-1476)CAG>TAG		development and differentiation enhancing factor							92.0	89.0	90.0					8																	131138243		2203	4300	6503	SO:0001587	stop_gained	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131138243G>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1474C>T	8.37:g.131138243G>A	ENSP00000429900:p.Gln492*					ASAP1_uc003ysz.1_Nonsense_Mutation_p.Q303*|ASAP1_uc011liw.1_Nonsense_Mutation_p.Q485*	p.Q492*	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			16	1502	-			492			Arf-GAP.		B2RNV3	Nonsense_Mutation	SNP	ENST00000518721.1	37	c.1474C>T	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	9.028789|9.028789	0.99040|0.99040	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721|ENST00000524124	.|.	.|.	.|.	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76793	.|0.4037	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73987	.|-0.3809	.|3	0.87932|.	D|.	0|.	.|.	19.4269|19.4269	0.94746|0.94746	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	495;492;492|312	.|.	ENSP00000344591:Q495X|.	Q|S	-|-	1|2	0|0	ASAP1|ASAP1	131207425|131207425	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.414000|9.414000	0.97362|0.97362	2.836000|2.836000	0.97738|0.97738	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.383	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1		NM_018482		33	48	0	0	0	0.004878	0	33	48		
TOP1MT	116447	broad.mit.edu	37	8	144411592	144411592	+	Silent	SNP	A	A	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:144411592A>G	ENST00000329245.4	-	3	322	c.288T>C	c.(286-288)taT>taC	p.Y96Y	TOP1MT_ENST00000521193.1_5'UTR|TOP1MT_ENST00000519148.1_5'UTR|TOP1MT_ENST00000523676.1_5'UTR	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	96					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	ACATCCTCCCATAAAAAGTGG	0.552																																						uc003yxz.2		NaN																	0				ovary(1)	1						c.(286-288)TAT>TAC		mitochondrial topoisomerase I precursor	Irinotecan(DB00762)|Topotecan(DB01030)						164.0	153.0	157.0					8																	144411592		2203	4300	6503	SO:0001819	synonymous_variant	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144411592A>G	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.288T>C	8.37:g.144411592A>G						TOP1MT_uc011lkd.1_5'UTR|TOP1MT_uc011lke.1_5'UTR|TOP1MT_uc010mfb.2_5'UTR|TOP1MT_uc010mfd.1_5'UTR	p.Y96Y	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		3	307	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		96					B7ZAR5|E7ES89|Q86ST4|Q86V82	Silent	SNP	ENST00000329245.4	37	c.288T>C	CCDS6400.1																																																																																				0.552	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3		NM_052963		30	105	0	0	0	0.004289	0	30	105		
PSIP1	11168	broad.mit.edu	37	9	15472667	15472667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:15472667G>A	ENST00000380733.4	-	10	1283	c.940C>T	c.(940-942)Cga>Tga	p.R314*	PSIP1_ENST00000380738.4_Nonsense_Mutation_p.R314*|PSIP1_ENST00000380716.4_Nonsense_Mutation_p.R314*|PSIP1_ENST00000397519.2_Nonsense_Mutation_p.R314*|PSIP1_ENST00000380715.1_Nonsense_Mutation_p.R314*			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	314					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTGCGTTTTCGATCTGCTGCT	0.363																																						uc003zlv.3		NaN																	0				breast(1)	1						c.(940-942)CGA>TGA		PC4 and SFRS1 interacting protein 1 isoform 2							206.0	179.0	188.0					9																	15472667		2202	4299	6501	SO:0001587	stop_gained	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15472667G>A	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.940C>T	9.37:g.15472667G>A	ENSP00000370109:p.Arg314*					PSIP1_uc003zlw.3_Nonsense_Mutation_p.R314*|PSIP1_uc003zlz.3_Nonsense_Mutation_p.R314*|PSIP1_uc003zma.3_Nonsense_Mutation_p.R305*|PSIP1_uc003zly.2_Nonsense_Mutation_p.R314*	p.R314*	NM_033222	NP_150091	O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	10	1270	-			314			Potential.		D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Nonsense_Mutation	SNP	ENST00000380733.4	37	c.940C>T	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	G	37	6.388572	0.97529	.	.	ENSG00000164985	ENST00000380733;ENST00000380738;ENST00000380715;ENST00000380716;ENST00000397519	.	.	.	6.07	2.69	0.31865	.	0.246530	0.43260	D	0.000591	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1547	0.59509	0.0:0.0:0.3774:0.6226	.	.	.	.	X	314	.	ENSP00000370091:R314X	R	-	1	2	PSIP1	15462667	0.879000	0.30193	1.000000	0.80357	0.996000	0.88848	0.736000	0.26130	0.269000	0.21961	0.585000	0.79938	CGA		0.363	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1		NM_033222		32	5	0	0	0	0.004878	0	32	5		
CAAP1	79886	broad.mit.edu	37	9	26884835	26884835	+	Missense_Mutation	SNP	G	G	A	rs576347270		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:26884835G>A	ENST00000333916.5	-	4	726	c.638C>T	c.(637-639)tCt>tTt	p.S213F	CAAP1_ENST00000520187.1_Intron|CAAP1_ENST00000495958.1_5'UTR|CAAP1_ENST00000535437.1_Missense_Mutation_p.S68F	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CAAP1_HUMAN	caspase activity and apoptosis inhibitor 1	213					apoptotic process (GO:0006915)												TCCCATCTTAGAACCATCATC	0.294													G|||	1	0.000199681	0.0	0.0	5008	,	,		14621	0.0		0.0	False		,,,				2504	0.001					uc003zqc.2		NaN																	0					0						c.(637-639)TCT>TTT		hypothetical protein LOC79886							133.0	146.0	142.0					9																	26884835		2203	4294	6497	SO:0001583	missense	79886							g.chr9:26884835G>A	BC014658	CCDS6516.1	9p21.2	2012-04-20	2012-04-20	2012-04-20	ENSG00000120159	ENSG00000120159			25834	protein-coding gene	gene with protein product	"""conserved anti-apoptotic protein"""		"""chromosome 9 open reading frame 82"""	C9orf82		21980415	Standard	NM_024828		Approved	FLJ13657, CAAP	uc003zqc.3	Q9H8G2	OTTHUMG00000019706	ENST00000333916.5:c.638C>T	9.37:g.26884835G>A	ENSP00000369431:p.Ser213Phe					C9orf82_uc003zqb.2_Missense_Mutation_p.S68F	p.S213F	NM_024828	NP_079104	Q9H8G2	CI082_HUMAN		Lung(42;1.39e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)	4	650	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	213					B4DWT4|D3DRK4|Q5VY32|Q6IPE6|Q96C59	Missense_Mutation	SNP	ENST00000333916.5	37	c.638C>T	CCDS6516.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840231	0.32513	.	.	ENSG00000120159	ENST00000333916;ENST00000535437	T;T	0.47528	0.84;0.87	5.87	3.0	0.34707	.	0.555061	0.20161	N	0.097953	T	0.23330	0.0564	N	0.08118	0	0.22701	N	0.998834	B	0.02656	0.0	B	0.06405	0.002	T	0.11591	-1.0581	10	0.52906	T	0.07	0.023	4.0812	0.09927	0.0771:0.2584:0.4669:0.1975	.	213	Q9H8G2	CI082_HUMAN	F	213;68	ENSP00000369431:S213F;ENSP00000444885:S68F	ENSP00000369431:S213F	S	-	2	0	C9orf82	26874835	0.891000	0.30450	1.000000	0.80357	0.973000	0.67179	0.537000	0.23144	0.798000	0.33994	0.591000	0.81541	TCT		0.294	CAAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051954.1		NM_024828		74	11	0	0	0	0.01441	0	74	11		
NPR2	4882	broad.mit.edu	37	9	35805555	35805555	+	Silent	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:35805555C>G	ENST00000342694.2	+	13	2190	c.1935C>G	c.(1933-1935)ctC>ctG	p.L645L		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	645	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATGGGAGTCTCAAGTCCTCCA	0.488																																						uc003zyd.2		NaN																	0				ovary(2)|stomach(1)	3						c.(1933-1935)CTC>CTG		natriuretic peptide receptor B precursor	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						169.0	141.0	150.0					9																	35805555		2203	4300	6503	SO:0001819	synonymous_variant	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35805555C>G	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.1935C>G	9.37:g.35805555C>G						NPR2_uc010mlb.2_Silent_p.L621L	p.L645L	NM_003995	NP_003986	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		13	1935	+	all_epithelial(49;0.161)		645			Protein kinase.|Cytoplasmic (Potential).		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	c.1935C>G	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	C	5.281	0.237310	0.10023	.	.	ENSG00000159899	ENST00000421267	.	.	.	5.64	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9348	0.52868	0.0:0.9162:0.0:0.0838	.	.	.	.	X	10	.	.	S	+	2	0	NPR2	35795555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.142000	0.42177	2.820000	0.97059	0.650000	0.86243	TCA		0.488	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1				77	9	0	0	0	0.01441	0	77	9		
SMC5	23137	broad.mit.edu	37	9	72879297	72879297	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:72879297G>C	ENST00000361138.5	+	2	321	c.263G>C	c.(262-264)aGc>aCc	p.S88T		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	88					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GGGAAGTCGAGCATTGTGTGT	0.373																																						uc004ahr.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(262-264)AGC>ACC		SMC5 protein							145.0	143.0	144.0					9																	72879297		2203	4300	6503	SO:0001583	missense	23137				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr9:72879297G>C	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.263G>C	9.37:g.72879297G>C	ENSP00000354957:p.Ser88Thr						p.S88T	NM_015110	NP_055925	Q8IY18	SMC5_HUMAN			2	380	+			88					A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	c.263G>C	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665679	0.88251	.	.	ENSG00000198887	ENST00000361138	T	0.72167	-0.63	5.65	5.65	0.86999	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.79545	0.4464	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72962	-0.4132	10	0.21014	T	0.42	-14.8306	19.6731	0.95918	0.0:0.0:1.0:0.0	.	88	Q8IY18	SMC5_HUMAN	T	88	ENSP00000354957:S88T	ENSP00000354957:S88T	S	+	2	0	SMC5	72069117	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.224000	0.95209	2.817000	0.96982	0.563000	0.77884	AGC		0.373	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1		NM_015110		14	34	0	0	0	0.008871	0	14	34		
NFIL3	4783	broad.mit.edu	37	9	94172288	94172288	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:94172288G>A	ENST00000297689.3	-	2	1123	c.729C>T	c.(727-729)atC>atT	p.I243I		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	243					cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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 sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						AGTTTTGATAGATGGACGCTG	0.488																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	uc004arh.2		NaN																	0					0						c.(727-729)ATC>ATT		nuclear factor, interleukin 3 regulated							127.0	128.0	128.0					9																	94172288		2203	4300	6503	SO:0001819	synonymous_variant	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172288G>A	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.729C>T	9.37:g.94172288G>A							p.I243I	NM_005384	NP_005375	Q16649	NFIL3_HUMAN			2	1124	-			243					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Silent	SNP	ENST00000297689.3	37	c.729C>T	CCDS6690.1																																																																																				0.488	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2		NM_005384		46	8	0	0	0	0.01441	0	46	8		
ECM2	1842	broad.mit.edu	37	9	95277062	95277062	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:95277062G>C	ENST00000344604.5	-	4	1054	c.905C>G	c.(904-906)tCt>tGt	p.S302C	ECM2_ENST00000444490.2_Missense_Mutation_p.S280C|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	302					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						CGGGGATCGAGAGGGCATTCG	0.612																																						uc004ash.2		NaN																	0				ovary(1)|skin(1)	2						c.(904-906)TCT>TGT		extracellular matrix protein 2 precursor							273.0	200.0	225.0					9																	95277062		2203	4300	6503	SO:0001583	missense	1842				cell-matrix adhesion		integrin binding	g.chr9:95277062G>C	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.905C>G	9.37:g.95277062G>C	ENSP00000344758:p.Ser302Cys					CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.S280C|ECM2_uc011lty.1_Missense_Mutation_p.S302C|ECM2_uc004asg.2_Missense_Mutation_p.S280C	p.S302C	NM_001393	NP_001384	O94769	ECM2_HUMAN			4	970	-			302					B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	c.905C>G	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.617255	0.28801	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.51817	0.69;0.7	4.45	3.53	0.40419	.	0.407022	0.27586	N	0.018713	T	0.44912	0.1316	L	0.55481	1.735	0.09310	N	1	B;B;B	0.14438	0.006;0.007;0.01	B;B;B	0.14023	0.005;0.007;0.01	T	0.48317	-0.9046	10	0.72032	D	0.01	.	14.5611	0.68136	0.0:0.148:0.852:0.0	.	302;280;280	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	C	280;302	ENSP00000393971:S280C;ENSP00000344758:S302C	ENSP00000344758:S302C	S	-	2	0	ECM2	94316883	0.974000	0.33945	0.001000	0.08648	0.031000	0.12232	3.206000	0.51098	1.145000	0.42336	0.655000	0.94253	TCT		0.612	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1		NM_001393		31	6	0	0	0	0.003271	0	31	6		
NANS	54187	broad.mit.edu	37	9	100845193	100845193	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:100845193C>T	ENST00000210444.5	+	6	1006	c.936C>T	c.(934-936)ctC>ctT	p.L312L	TRIM14_ENST00000478530.1_Intron|NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	312	AFP-like. {ECO:0000255|PROSITE- ProRule:PRU00021}.				lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				TGGACATGCTCACCGTGAAGG	0.493																																						uc004ayb.2		NaN																	0				skin(1)	1						c.(934-936)CTC>CTT		N-acetylneuraminic acid phosphate synthase							99.0	87.0	91.0					9																	100845193		2203	4300	6503	SO:0001819	synonymous_variant	54187				lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity	g.chr9:100845193C>T	AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"""sialic acid synthase"""	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.936C>T	9.37:g.100845193C>T						NANS_uc004ayc.2_Silent_p.L312L|TRIM14_uc004ayd.2_Intron|TRIM14_uc004ayf.1_Intron	p.L312L	NM_018946	NP_061819	Q9NR45	SIAS_HUMAN			7	1578	+		Acute lymphoblastic leukemia(62;0.0559)	312			AFP-like.		B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Silent	SNP	ENST00000210444.5	37	c.936C>T	CCDS6733.1																																																																																				0.493	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053359.1		NM_018946		32	5	0	0	0	0.004289	0	32	5		
SPTAN1	6709	broad.mit.edu	37	9	131342008	131342008	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:131342008G>A	ENST00000372731.4	+	10	1424	c.1314G>A	c.(1312-1314)gtG>gtA	p.V438V	SPTAN1_ENST00000372739.3_Silent_p.V438V|SPTAN1_ENST00000358161.5_Silent_p.V438V	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	438					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CAGATGAAGTGAGGGAGAAGG	0.428																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NaN																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(1312-1314)GTG>GTA		spectrin, alpha, non-erythrocytic 1							84.0	77.0	79.0					9																	131342008		2203	4300	6503	SO:0001819	synonymous_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131342008G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1314G>A	9.37:g.131342008G>A						SPTAN1_uc011mbg.1_Silent_p.V438V|SPTAN1_uc011mbh.1_Silent_p.V450V|SPTAN1_uc004bvm.3_Silent_p.V438V|SPTAN1_uc004bvn.3_Silent_p.V438V	p.V438V	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			10	1427	+			438			Spectrin 5.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.1314G>A	CCDS6905.1																																																																																				0.428	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1		NM_003127		15	1	0	0	0	0.00499	0	15	1		
OBP2B	29989	broad.mit.edu	37	9	136081794	136081794	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr9:136081794G>A	ENST00000372034.3	-	5	439	c.398C>T	c.(397-399)tCt>tTt	p.S133F	OBP2B_ENST00000372032.2_3'UTR|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	133					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		GTTGGTATCAGAATTCCTACC	0.612																																						uc004ccz.2		NaN																	0					0						c.(397-399)TCT>TTT		odorant binding protein 2B precursor							80.0	75.0	76.0					9																	136081794		2203	4300	6503	SO:0001583	missense	29989				chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:136081794G>A	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"""Lipocalins"""	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.398C>T	9.37:g.136081794G>A	ENSP00000361104:p.Ser133Phe					OBP2B_uc010nad.2_RNA|OBP2B_uc011mcy.1_Missense_Mutation_p.S65F	p.S133F	NM_014581	NP_055396	Q9NPH6	OBP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)	5	440	-			133					Q5VSP6|Q9NY51|Q9NY52	Missense_Mutation	SNP	ENST00000372034.3	37	c.398C>T	CCDS6961.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686745	0.29962	.	.	ENSG00000171102	ENST00000372034	T	0.08458	3.09	2.38	-0.7	0.11273	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.411595	0.17841	U	0.160204	T	0.08403	0.0209	L	0.27053	0.805	0.09310	N	1	P	0.39480	0.675	P	0.48704	0.587	T	0.22452	-1.0216	10	0.72032	D	0.01	-11.4445	5.0195	0.14354	0.4996:0.0:0.5004:0.0	.	133	Q9NPH6	OBP2B_HUMAN	F	133	ENSP00000361104:S133F	ENSP00000361104:S133F	S	-	2	0	OBP2B	135071615	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.567000	0.23608	-0.178000	0.10672	0.557000	0.71058	TCT		0.612	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1		NM_014581		23	5	0	0	0	0.00333	0	23	5		
CLCN4	1183	broad.mit.edu	37	X	10188910	10188910	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:10188910C>T	ENST00000380833.4	+	12	2576	c.2185C>T	c.(2185-2187)Cgg>Tgg	p.R729W	CLCN4_ENST00000380829.1_Missense_Mutation_p.R698W|CLCN4_ENST00000421085.2_Missense_Mutation_p.R635W	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	729	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCTGGTGACGCGGAGCGGGTG	0.567																																					Melanoma(74;1050 1296 1576 30544 38374)	uc004csy.3		NaN																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(2185-2187)CGG>TGG		chloride channel 4							77.0	66.0	69.0					X																	10188910		2203	4300	6503	SO:0001583	missense	1183					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10188910C>T	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.2185C>T	X.37:g.10188910C>T	ENSP00000370213:p.Arg729Trp					CLCN4_uc011mid.1_Missense_Mutation_p.R635W	p.R729W	NM_001830	NP_001821	P51793	CLCN4_HUMAN			12	2615	+			729			CBS 2.|Cytoplasmic (By similarity).		A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.2185C>T	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	c	27.5	4.839504	0.91117	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.93712	-3.27;-3.27;-3.27	5.36	5.36	0.76844	Cystathionine beta-synthase, core (3);	0.057271	0.64402	D	0.000002	D	0.96390	0.8822	M	0.84219	2.685	0.80722	D	1	D	0.60160	0.987	P	0.58820	0.846	D	0.96975	0.9711	10	0.87932	D	0	-35.5809	18.267	0.90055	0.0:1.0:0.0:0.0	.	729	P51793	CLCN4_HUMAN	W	729;698;635	ENSP00000370213:R729W;ENSP00000370209:R698W;ENSP00000405754:R635W	ENSP00000370209:R698W	R	+	1	2	CLCN4	10148910	0.998000	0.40836	0.909000	0.35828	0.964000	0.63967	3.964000	0.56780	2.253000	0.74438	0.591000	0.81541	CGG		0.567	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1				47	4	0	0	0	0.01441	0	47	4		
SUPT20HL2	170067	broad.mit.edu	37	X	24330063	24330063	+	IGR	SNP	C	C	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:24330063C>G								AC096509.1 (25269 upstream) : AC004552.1 (36862 downstream)																							ATGTTTCTCTCCCTTCCCGGA	0.547																																						uc011mjw.1		NaN																	0					0						c.(1369-1371)GGA>GCA		family with sequence similarity 48, member B2							74.0	69.0	70.0					X																	24330063		1528	3557	5085	SO:0001628	intergenic_variant	170067							g.chrX:24330063C>G																													X.37:g.24330063C>G							p.G457A	NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN			1	1370	-			457						Missense_Mutation	SNP		37	c.1370G>C																																																																																				0	0.547										16	2	0	0	0	0.008871	0	16	2		
IL1RAPL1	11141	broad.mit.edu	37	X	29959767	29959767	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:29959767G>C	ENST00000378993.1	+	9	1730		c.e9-1		IL1RAPL1_ENST00000302196.4_Splice_Site	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1						calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTTCTTTCTAGAGCTAATGTA	0.368																																						uc004dby.2		NaN																	0				ovary(3)|lung(1)|pancreas(1)	5						c.e9-1		interleukin 1 receptor accessory protein-like 1							240.0	210.0	220.0					X																	29959767		2202	4300	6502	SO:0001630	splice_region_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29959767G>C	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1058-1G>C	X.37:g.29959767G>C							p.E353_splice	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			9	1566	+								A0AVG4|Q9UJ53	Splice_Site	SNP	ENST00000378993.1	37	c.1058_splice	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020543	0.54576	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1413	0.89641	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL1RAPL1	29869688	1.000000	0.71417	0.913000	0.36048	0.442000	0.32017	9.388000	0.97237	2.307000	0.77673	0.594000	0.82650	.		0.368	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1		NM_014271	Intron	99	5	0	0	0	0.01441	0	99	5		
KDM6A	7403	broad.mit.edu	37	X	44894182	44894182	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:44894182C>T	ENST00000377967.4	+	7	612	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q191*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q191*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q191*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	191	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(12)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GCAGCATTTTCAGTTAGCTTT	0.343			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		19	No detectable mRNA/protein(12)|Whole gene deletion(6)|Unknown(1)	p.0(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(11)|oesophagus(4)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(571-573)CAG>TAG		ubiquitously transcribed tetratricopeptide							286.0	224.0	245.0					X																	44894182		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44894182C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.571C>T	X.37:g.44894182C>T	ENSP00000367203:p.Gln191*					KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q191*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q191*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q191*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q191*|KDM6A_uc011mlc.1_5'UTR	p.Q191*	NM_021140	NP_066963	O15550	KDM6A_HUMAN			7	946	+			191			TPR 3.		Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.571C>T	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	C	36	5.749192	0.96882	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000542299	.	.	.	5.31	5.31	0.75309	.	0.054958	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-2.9286	18.2584	0.90025	0.0:1.0:0.0:0.0	.	.	.	.	X	191	.	ENSP00000367203:Q191X	Q	+	1	0	KDM6A	44779126	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.716000	0.74702	2.337000	0.79520	0.600000	0.82982	CAG		0.343	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		49	2	0	0	0	0.01441	0	49	2		
WDR13	64743	broad.mit.edu	37	X	48457331	48457331	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:48457331C>T	ENST00000218056.5	+	2	773	c.268C>T	c.(268-270)Ctt>Ttt	p.L90F	WDR13_ENST00000376729.5_Missense_Mutation_p.L90F|WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	90						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CCGCACTACTCTTGACCGCAT	0.617																																						uc004dkh.1		NaN																	0				ovary(2)	2						c.(268-270)CTT>TTT		WD repeat domain 13 protein							42.0	30.0	34.0					X																	48457331		2203	4300	6503	SO:0001583	missense	64743					cytoplasm|nucleus		g.chrX:48457331C>T	AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.268C>T	X.37:g.48457331C>T	ENSP00000218056:p.Leu90Phe					WDR13_uc010nif.1_Intron|WDR13_uc004dki.1_5'UTR|WDR13_uc004dkj.1_Missense_Mutation_p.L90F|WDR13_uc004dkk.1_5'UTR|WDR13_uc004dkl.3_5'UTR|WDR13_uc011mme.1_5'Flank	p.L90F	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN			3	415	+			90					Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	c.268C>T	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.442032	0.43326	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.75589	-0.95;-0.95	4.53	3.65	0.41850	.	0.000000	0.64402	D	0.000001	T	0.61413	0.2345	L	0.47716	1.5	0.54753	D	0.999981	B	0.24920	0.114	B	0.21360	0.034	T	0.53732	-0.8397	10	0.09590	T	0.72	-3.0674	9.7265	0.40335	0.0:0.8917:0.0:0.1083	.	90	Q9H1Z4	WDR13_HUMAN	F	90	ENSP00000365919:L90F;ENSP00000218056:L90F	ENSP00000218056:L90F	L	+	1	0	WDR13	48342275	0.999000	0.42202	1.000000	0.80357	0.973000	0.67179	4.252000	0.58785	2.081000	0.62600	0.523000	0.50628	CTT		0.617	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2				31	4	0	0	0	0.003755	0	31	4		
ITIH6	347365	broad.mit.edu	37	X	54783589	54783589	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:54783589G>A	ENST00000218436.6	-	8	2947	c.2918C>T	c.(2917-2919)tCc>tTc	p.S973F		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	973	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TGTAGGCCTGGAGCTGTTGAG	0.572																																						uc004dtj.2		NaN																	0				lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(2917-2919)TCC>TTC		inter-alpha (globulin) inhibitor H5-like							106.0	93.0	97.0					X																	54783589		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783589G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2918C>T	X.37:g.54783589G>A	ENSP00000218436:p.Ser973Phe						p.S973F	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			8	2948	-			973			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2918C>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	4.113	0.019065	0.08006	.	.	ENSG00000102313	ENST00000218436	T	0.03035	4.07	4.34	2.51	0.30379	.	10.909100	0.00166	N	0.000005	T	0.03783	0.0107	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.40961	-0.9535	10	0.87932	D	0	.	4.8148	0.13362	0.1181:0.0:0.671:0.2109	.	973	Q6UXX5	ITH5L_HUMAN	F	973	ENSP00000218436:S973F	ENSP00000218436:S973F	S	-	2	0	ITIH5L	54800314	0.010000	0.17322	0.092000	0.20876	0.104000	0.19210	1.219000	0.32479	0.153000	0.19213	-0.245000	0.11935	TCC		0.572	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2		NM_198510		24	0	0	0	0	0.005443	0	24	0		
TEX11	56159	broad.mit.edu	37	X	70099855	70099855	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:70099855C>A	ENST00000395889.2	-	4	342	c.187G>T	c.(187-189)Gaa>Taa	p.E63*	TEX11_ENST00000344304.3_Nonsense_Mutation_p.E63*|TEX11_ENST00000374333.2_Nonsense_Mutation_p.E48*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	63					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCTGTTATTTCAGCCATAGAC	0.313																																						uc004dyl.2		NaN																	0				ovary(3)|breast(1)|skin(1)	5						c.(187-189)GAA>TAA		testis expressed sequence 11 isoform 1							114.0	95.0	101.0					X																	70099855		2201	4299	6500	SO:0001587	stop_gained	56159						protein binding	g.chrX:70099855C>A	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.187G>T	X.37:g.70099855C>A	ENSP00000379226:p.Glu63*					TEX11_uc004dym.2_Nonsense_Mutation_p.E48*	p.E63*	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN			4	349	-	Renal(35;0.156)		63					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Nonsense_Mutation	SNP	ENST00000395889.2	37	c.187G>T	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	31	5.080017	0.94050	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000344304	.	.	.	5.0	4.12	0.48240	.	0.816376	0.11064	N	0.603679	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.6391	9.9953	0.41896	0.0:0.8003:0.1997:0.0	.	.	.	.	X	48;63;63	.	.	E	-	1	0	TEX11	70016580	0.091000	0.21658	0.652000	0.29579	0.741000	0.42261	3.368000	0.52357	1.064000	0.40671	0.594000	0.82650	GAA		0.313	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1				10	20	1	0	9.31168e-06	0.001855	9.60389e-06	10	20		
MED12	9968	broad.mit.edu	37	X	70360617	70360617	+	Silent	SNP	A	A	G			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:70360617A>G	ENST00000374080.3	+	42	6209	c.6177A>G	c.(6175-6177)caA>caG	p.Q2059Q	MED12_ENST00000374102.1_Silent_p.Q2058Q|AL590764.1_ENST00000579622.1_RNA|MED12_ENST00000333646.6_Silent_p.Q2062Q			Q93074	MED12_HUMAN	mediator complex subunit 12	2059	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					aacagcagcaacagcaacagc	0.592			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2		NaN		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(6175-6177)CAA>CAG		mediator complex subunit 12							32.0	36.0	35.0					X																	70360617		2154	4173	6327	SO:0001819	synonymous_variant	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360617A>G	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6177A>G	X.37:g.70360617A>G						MED12_uc004dyz.2_Silent_p.Q2058Q|MED12_uc004dza.2_Silent_p.Q1909Q|MED12_uc010nla.2_Silent_p.Q688Q	p.Q2059Q	NM_005120	NP_005111	Q93074	MED12_HUMAN			42	6376	+	Renal(35;0.156)		2059			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	ENST00000374080.3	37	c.6177A>G	CCDS43970.1																																																																																				0.592	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1		NM_005120		9	22	0	0	0	0.003163	0	9	22		
PHKA1	5255	broad.mit.edu	37	X	71843049	71843049	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:71843049C>T	ENST00000373542.4	-	18	2029	c.1870G>A	c.(1870-1872)Gag>Aag	p.E624K	PHKA1_ENST00000541944.1_Missense_Mutation_p.E624K|PHKA1_ENST00000373539.3_Missense_Mutation_p.E624K|PHKA1_ENST00000373545.3_Missense_Mutation_p.E624K|PHKA1_ENST00000339490.3_Missense_Mutation_p.E624K	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	624					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGCTTACCCTCAGGTCCAGGG	0.408																																						uc004eax.3		NaN																	0				ovary(3)|skin(1)	4						c.(1870-1872)GAG>AAG		phosphorylase kinase, alpha 1 (muscle) isoform							129.0	95.0	107.0					X																	71843049		2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71843049C>T		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.1870G>A	X.37:g.71843049C>T	ENSP00000362643:p.Glu624Lys					PHKA1_uc004eay.3_Missense_Mutation_p.E624K|PHKA1_uc011mqi.1_Missense_Mutation_p.E624K	p.E624K	NM_002637	NP_002628	P46020	KPB1_HUMAN			18	2171	-	Renal(35;0.156)		624					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.1870G>A	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622023	0.66787	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.90900	-2.75;-2.74;-2.75;-2.75;-2.75	5.64	5.64	0.86602	Glycoside hydrolase 15-related (1);	0.425407	0.26983	N	0.021505	D	0.86306	0.5901	L	0.39898	1.24	0.54753	D	0.999988	B;B;B	0.33777	0.425;0.03;0.167	B;B;B	0.31812	0.136;0.012;0.081	D	0.84200	0.0450	10	0.26408	T	0.33	-1.8721	15.8797	0.79195	0.0:1.0:0.0:0.0	.	624;624;624	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	K	624	ENSP00000362646:E624K;ENSP00000362643:E624K;ENSP00000441251:E624K;ENSP00000342469:E624K;ENSP00000362640:E624K	ENSP00000342469:E624K	E	-	1	0	PHKA1	71759774	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.424000	0.66464	2.349000	0.79799	0.506000	0.49869	GAG		0.408	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1				38	1	0	0	0	0.00874	0	38	1		
WDR44	54521	broad.mit.edu	37	X	117566847	117566847	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:117566847C>T	ENST00000254029.3	+	13	2236	c.1841C>T	c.(1840-1842)tCa>tTa	p.S614L	WDR44_ENST00000371825.3_Missense_Mutation_p.S614L|WDR44_ENST00000371822.5_Missense_Mutation_p.S589L	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	614						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CTTGATCTTTCATGGTCTAAA	0.393																																						uc004eqn.2		NaN																	0				lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(1840-1842)TCA>TTA		WD repeat domain 44 protein							108.0	96.0	100.0					X																	117566847		2203	4300	6503	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117566847C>T	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.1841C>T	X.37:g.117566847C>T	ENSP00000254029:p.Ser614Leu					WDR44_uc004eqo.2_Missense_Mutation_p.S614L|WDR44_uc011mtr.1_Missense_Mutation_p.S589L|WDR44_uc010nqi.2_Missense_Mutation_p.S324L	p.S614L	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN			13	2266	+			614			WD 2.		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.1841C>T	CCDS14572.1	.	.	.	.	.	.	.	.	.	.	C	32	5.156278	0.94686	.	.	ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825	T;T;T	0.62364	0.03;0.03;0.03	5.34	5.34	0.76211	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78717	0.4327	M	0.66439	2.03	0.80722	D	1	D;D;D;D	0.89917	0.995;1.0;1.0;1.0	D;D;D;D	0.91635	0.969;0.999;0.999;0.992	T	0.81169	-0.1055	10	0.87932	D	0	-7.5168	18.2152	0.89882	0.0:1.0:0.0:0.0	.	589;614;614;614	F8W913;E9PCI7;Q5JSH3-2;Q5JSH3	.;.;.;WDR44_HUMAN	L	589;614;614	ENSP00000360887:S589L;ENSP00000254029:S614L;ENSP00000360890:S614L	ENSP00000254029:S614L	S	+	2	0	WDR44	117450875	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.391000	0.79828	2.240000	0.73641	0.591000	0.81541	TCA		0.393	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1		NM_019045		47	4	0	0	0	0.01441	0	47	4		
STAG2	10735	broad.mit.edu	37	X	123197011	123197011	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:123197011C>T	ENST00000371160.1	+	19	2067	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q524*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q593*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	593					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						GCAGTTGCCTCAGTACTTTGA	0.279																																						uc004etz.3		NaN																	0				ovary(4)|skin(1)	5						c.(1777-1779)CAG>TAG		stromal antigen 2 isoform b							64.0	62.0	63.0					X																	123197011		2203	4300	6503	SO:0001587	stop_gained	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:123197011C>T	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.1777C>T	X.37:g.123197011C>T	ENSP00000360202:p.Gln593*					STAG2_uc004eua.2_Nonsense_Mutation_p.Q593*|STAG2_uc004eub.2_Nonsense_Mutation_p.Q593*|STAG2_uc004euc.2_Nonsense_Mutation_p.Q593*|STAG2_uc004eud.2_Nonsense_Mutation_p.Q593*|STAG2_uc004eue.2_Nonsense_Mutation_p.Q593*	p.Q593*	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			18	2116	+			593					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	37	c.1777C>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	40	8.253080	0.98727	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.58	5.58	0.84498	.	0.119109	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-17.9199	18.5988	0.91240	0.0:1.0:0.0:0.0	.	.	.	.	X	593;524;593;593;593;593	.	ENSP00000218089:Q593X	Q	+	1	0	STAG2	123024692	1.000000	0.71417	0.981000	0.43875	0.985000	0.73830	6.003000	0.70701	2.335000	0.79485	0.544000	0.68410	CAG		0.279	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2		NM_006603		20	2	0	0	0	0.004656	0	20	2		
TENM1	10178	broad.mit.edu	37	X	124097480	124097480	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:124097480G>A	ENST00000371130.3	-	1	186	c.123C>T	c.(121-123)aaC>aaT	p.N41N	TENM1_ENST00000422452.2_Silent_p.N41N	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	41	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCTCCCTGGAGTTGTATGACT	0.428																																						uc004euj.2		NaN																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(121-123)AAC>AAT		odz, odd Oz/ten-m homolog 1 isoform 3							307.0	280.0	289.0					X																	124097480		2203	4300	6503	SO:0001819	synonymous_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:124097480G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.123C>T	X.37:g.124097480G>A						ODZ1_uc011muj.1_Silent_p.N41N|ODZ1_uc010nqy.2_Silent_p.N41N	p.N41N	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			1	187	-			41			Teneurin N-terminal.|Cytoplasmic (Potential).		B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.123C>T	CCDS14609.1																																																																																				0.428	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1		NM_014253		55	77	0	0	0	0.01441	0	55	77		
HTATSF1	27336	broad.mit.edu	37	X	135593753	135593753	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:135593753G>C	ENST00000218364.4	+	9	2023	c.1849G>C	c.(1849-1851)Gag>Cag	p.E617Q	HTATSF1_ENST00000535601.1_Missense_Mutation_p.E617Q	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	617	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GGAAGGCTCTGAGAGAGAGTT	0.363																																						uc004ezw.2		NaN																	0				ovary(2)|breast(1)	3						c.(1849-1851)GAG>CAG		HIV-1 Tat specific factor 1							81.0	85.0	84.0					X																	135593753		2202	4297	6499	SO:0001583	missense	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135593753G>C	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1849G>C	X.37:g.135593753G>C	ENSP00000218364:p.Glu617Gln					HTATSF1_uc004ezx.2_Missense_Mutation_p.E617Q	p.E617Q	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN			10	2271	+	Acute lymphoblastic leukemia(192;0.000127)		617			Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	ENST00000218364.4	37	c.1849G>C	CCDS14657.1	.	.	.	.	.	.	.	.	.	.	G	5.573	0.290616	0.10567	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.04360	3.64;3.64	4.64	3.76	0.43208	.	0.533090	0.17327	N	0.178250	T	0.03520	0.0101	N	0.19112	0.55	0.09310	N	1	B	0.21905	0.062	B	0.21708	0.036	T	0.36792	-0.9733	10	0.87932	D	0	-10.1374	4.869	0.13622	0.1073:0.0:0.6788:0.2139	.	617	O43719	HTSF1_HUMAN	Q	617	ENSP00000442699:E617Q;ENSP00000218364:E617Q	ENSP00000218364:E617Q	E	+	1	0	HTATSF1	135421419	0.317000	0.24589	0.007000	0.13788	0.269000	0.26545	2.584000	0.46102	1.279000	0.44446	0.523000	0.50628	GAG		0.363	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1		NM_014500		33	5	0	0	0	0.005524	0	33	5		
GABRE	2564	broad.mit.edu	37	X	151123200	151123200	+	Silent	SNP	G	G	C			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:151123200G>C	ENST00000370328.3	-	9	1547	c.1494C>G	c.(1492-1494)ctC>ctG	p.L498L	AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	498					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAAGCCAGTAGAGCACATTGA	0.547																																						uc004ffi.2		NaN																	0				ovary(2)	2						c.(1492-1494)CTC>CTG		gamma-aminobutyric acid (GABA) A receptor,							27.0	26.0	27.0					X																	151123200		2203	4299	6502	SO:0001819	synonymous_variant	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151123200G>C	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1494C>G	X.37:g.151123200G>C						GABRE_uc011myd.1_RNA	p.L498L	NM_004961	NP_004952	P78334	GBRE_HUMAN			9	1548	-	Acute lymphoblastic leukemia(192;6.56e-05)		498			Helical; (Potential).		E7ET93|O15345|O15346|Q6PCD2|Q99520	Silent	SNP	ENST00000370328.3	37	c.1494C>G	CCDS14703.1																																																																																				0.547	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1		NM_004961, NM_021990, NM_021984		11	3	0	0	0	0.010729	0	11	3		
MAGEA10	4109	broad.mit.edu	37	X	151303448	151303448	+	Silent	SNP	C	C	T			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:151303448C>T	ENST00000370323.4	-	4	961	c.645G>A	c.(643-645)ctG>ctA	p.L215L	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Silent_p.L215L	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	215	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGACATCACTCAGCATCCCAT	0.522																																						uc004ffk.2		NaN																	0					0						c.(643-645)CTG>CTA		melanoma antigen family A, 10							73.0	69.0	70.0					X																	151303448		2203	4300	6503	SO:0001819	synonymous_variant	4109							g.chrX:151303448C>T		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.645G>A	X.37:g.151303448C>T						MAGEA10_uc004ffl.2_Silent_p.L215L	p.L215L	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN			5	1053	-	Acute lymphoblastic leukemia(192;6.56e-05)		215			MAGE.			Silent	SNP	ENST00000370323.4	37	c.645G>A	CCDS14705.1																																																																																				0.522	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3		NM_021048		49	8	0	0	0	0.01441	0	49	8		
BGN	633	broad.mit.edu	37	X	152770152	152770152	+	Silent	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:152770152G>A	ENST00000331595.4	+	2	249	c.63G>A	c.(61-63)caG>caA	p.Q21Q	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	21					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTGAGCAGAGAGGCTTCT	0.642																																						uc004fhr.1		NaN																	0				breast(2)	2						c.(61-63)CAG>CAA		biglycan preproprotein							80.0	69.0	73.0					X																	152770152		2203	4299	6502	SO:0001819	synonymous_variant	633					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	g.chrX:152770152G>A	AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.63G>A	X.37:g.152770152G>A						BGN_uc004fhq.1_RNA	p.Q21Q	NM_001711	NP_001702	P21810	PGS1_HUMAN			2	235	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		21					D3DWU3|P13247	Silent	SNP	ENST00000331595.4	37	c.63G>A	CCDS14721.1																																																																																				0.642	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1		NM_001711		34	1	0	0	0	0.005524	0	34	1		
BGN	633	broad.mit.edu	37	X	152770154	152770154	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chrX:152770154G>A	ENST00000331595.4	+	2	251	c.65G>A	c.(64-66)aGa>aAa	p.R22K	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	22					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTTGAGCAGAGAGGCTTCTGG	0.642																																						uc004fhr.1		NaN																	0				breast(2)	2						c.(64-66)AGA>AAA		biglycan preproprotein							82.0	71.0	74.0					X																	152770154		2203	4299	6502	SO:0001583	missense	633					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	g.chrX:152770154G>A	AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.65G>A	X.37:g.152770154G>A	ENSP00000327336:p.Arg22Lys					BGN_uc004fhq.1_RNA	p.R22K	NM_001711	NP_001702	P21810	PGS1_HUMAN			2	237	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		22					D3DWU3|P13247	Missense_Mutation	SNP	ENST00000331595.4	37	c.65G>A	CCDS14721.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.671422	0.29693	.	.	ENSG00000182492	ENST00000331595;ENST00000431891	T;T	0.65364	0.7;-0.15	4.73	0.694	0.18062	.	0.153773	0.56097	N	0.000034	T	0.24736	0.0600	N	0.01482	-0.84	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24476	-1.0159	10	0.05959	T	0.93	-12.2804	7.5373	0.27719	0.3579:0.0:0.6421:0.0	.	22	P21810	PGS1_HUMAN	K	22	ENSP00000327336:R22K;ENSP00000402525:R22K	ENSP00000327336:R22K	R	+	2	0	BGN	152423348	0.001000	0.12720	0.508000	0.27688	0.849000	0.48306	-0.034000	0.12225	0.164000	0.19529	-0.395000	0.06472	AGA		0.642	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060981.1		NM_001711		39	1	0	0	0	0.010771	0	39	1		
TAF3	83860	broad.mit.edu	37	10	8051117	8051128	+	In_Frame_Del	DEL	GCCCCCGCGCCC	GCCCCCGCGCCC	-	rs367877886|rs559757182|rs532339632|rs372196685	byFrequency	TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr10:8051117_8051128delGCCCCCGCGCCC	ENST00000344293.5	+	5	2598_2609	c.2392_2403delGCCCCCGCGCCC	c.(2392-2403)gcccccgcgcccdel	p.APAP798del		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	798	Pro-rich.				maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)	p.A800A(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						cccaccgccggcccccgcgcccgcccccggcc	0.75																																						uc010qbd.1		NaN																	1	Substitution - coding silent(1)		kidney(1)	ovary(1)	1						c.(2392-2403)GCCCCCGCGCCCdel		RNA polymerase II transcription factor TAFII140																																				SO:0001651	inframe_deletion	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8051117_8051128delGCCCCCGCGCCC	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.2392_2403delGCCCCCGCGCCC	10.37:g.8051117_8051128delGCCCCCGCGCCC	ENSP00000340271:p.Ala798_Pro801del						p.APAP798del	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			5	2392_2403	+			798_801			Pro-rich.		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	In_Frame_Del	DEL	ENST00000344293.5	37	c.2392_2403delGCCCCCGCGCCC	CCDS41487.1																																																																																				0.750	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1		NM_031923		10	41	NaN	NaN	NaN	NaN	NaN	10	41	---	---
OR10A5	144124	broad.mit.edu	37	11	6867223	6867225	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:6867223_6867225delTTC	ENST00000299454.4	+	1	341_343	c.310_312delTTC	c.(310-312)ttcdel	p.F108del	OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	108					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(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCAGATGTATTTCTTCTTCTTCT	0.517																																					Pancreas(44;21 1072 25662 28041 45559)	uc001met.1		NaN																	0				skin(2)|ovary(1)	3						c.(310-312)TTCdel		olfactory receptor, family 10, subfamily A,																																				SO:0001651	inframe_deletion	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867223_6867225delTTC	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.310_312delTTC	11.37:g.6867232_6867234delTTC	ENSP00000299454:p.Phe108del						p.F108del	NM_178168	NP_835462	Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	310_312	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	108			Helical; Name=3; (Potential).		O95223|Q52M66|Q96R21|Q96R22	In_Frame_Del	DEL	ENST00000299454.4	37	c.310_312delTTC	CCDS7773.1																																																																																				0.517	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1		NM_178168		7	97	NaN	NaN	NaN	NaN	NaN	7	97	---	---
CASP5	838	broad.mit.edu	37	11	104879687	104879687	+	Frame_Shift_Del	DEL	T	T	-	rs372526393		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr11:104879687delT	ENST00000260315.3	-	2	27	c.28delA	c.(28-30)aggfs	p.R11fs	CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000393141.2_Frame_Shift_Del_p.R24fs|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs|CASP5_ENST00000418434.1_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	11					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTCTTACGCCTTTTTTTTTTG	0.388																																						uc010rva.1		NaN																	0				ovary(2)|lung(1)	3						c.(28-30)AGGfs		caspase 5 isoform a precursor			,,,	18,749,3497		0,0,18,1,747,1366	101.0	98.0	99.0		,,,	-1.9	0.0	11		107	8,1495,6751		0,0,8,0,1495,2624	no	codingComplex,codingComplex,intron,intron	CASP5	NM_004347.3,NM_001136112.1,NM_001136110.1,NM_001136109.1	,,,	0,0,26,1,2242,3990	A1A1,A1A2,A1R,A2A2,A2R,RR		18.2094,17.9878,18.1339	,,,	,,,	104879687	26,2244,10248	2201	4299	6500	SO:0001589	frameshift_variant	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104879687delT		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.28delA	11.37:g.104879687delT	ENSP00000260315:p.Arg11fs					CASP5_uc010ruz.1_Frame_Shift_Del_p.R23fs|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	p.R10fs	NM_004347	NP_004338	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	2	60	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	10					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Del	DEL	ENST00000260315.3	37	c.28delA	CCDS8328.2																																																																																				0.388	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2		NM_004347		7	30	NaN	NaN	NaN	NaN	NaN	7	30	---	---
TP53	7157	broad.mit.edu	37	17	7577562	7577563	+	Frame_Shift_Ins	INS	-	-	T	rs397516437		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr17:7577562_7577563insT	ENST00000269305.4	-	7	907_908	c.718_719insA	c.(718-720)agtfs	p.S240fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.S240fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Ins_p.S240fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.S240fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.S240fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.S240fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	240	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> N (in sporadic cancers; somatic mutation).|S -> P (in a sporadic cancer; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S240G(14)|p.0?(8)|p.S240I(6)|p.?(5)|p.N239_C242delNSSC(3)|p.M237_N239delMCN(3)|p.S240C(3)|p.N239_S240insX(2)|p.S240T(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.H233_C242del10(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.S240R(1)|p.H233fs*6(1)|p.S240fs*26(1)|p.S240fs*23(1)|p.N239_C242>S(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CATGCAGGAACTGTTACACATG	0.574		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		66	Substitution - Missense(27)|Deletion - In frame(13)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - In frame(2)|Insertion - Frameshift(1)|Complex - insertion inframe(1)|Complex - deletion inframe(1)	p.S240G(14)|p.S240R(8)|p.0?(7)|p.S240I(6)|p.N239_C242delNSSC(3)|p.S240C(3)|p.N239_S240insX(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.Y236_M243delYMCNSSCM(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.H233_C242del10(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.S240fs*26(1)|p.S240fs*23(1)|p.N239_C242>S(1)|p.N239_C242del(1)	large_intestine(7)|ovary(7)|upper_aerodigestive_tract(6)|oesophagus(6)|breast(6)|bone(6)|biliary_tract(5)|central_nervous_system(5)|soft_tissue(4)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|cervix(2)|stomach(2)|lung(2)|prostate(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(718-720)AGTfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577562_7577563insT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.719dupA	17.37:g.7577563_7577563dupT	ENSP00000269305:p.Ser240fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Ins_p.S240fs|TP53_uc002gih.2_Frame_Shift_Ins_p.S240fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.S108fs|TP53_uc010cng.1_Frame_Shift_Ins_p.S108fs|TP53_uc002gii.1_Frame_Shift_Ins_p.S108fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.S240fs|TP53_uc010cni.1_Frame_Shift_Ins_p.S240fs|TP53_uc002gij.2_Frame_Shift_Ins_p.S240fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Ins_p.S147fs|TP53_uc002gio.2_Frame_Shift_Ins_p.S108fs	p.S240fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	912_913	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	240		S -> T (in sporadic cancers; somatic mutation).|S -> P (in a sporadic cancer; somatic mutation).|S -> N (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.718_719insA	CCDS11118.1																																																																																				0.574	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		71	19	NaN	NaN	NaN	NaN	NaN	71	19	---	---
SALL3	27164	broad.mit.edu	37	18	76752223	76752223	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr18:76752223delC	ENST00000537592.2	+	2	232	c.232delC	c.(232-234)cccfs	p.P78fs	SALL3_ENST00000536229.3_5'UTR|SALL3_ENST00000575389.2_Frame_Shift_Del_p.P78fs	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	78					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CAAGCTCCCGCCCGTGCTGAT	0.716																																						uc002lmt.2		NaN																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(232-234)CCCfs		sal-like 3							28.0	30.0	29.0					18																	76752223		2198	4300	6498	SO:0001589	frameshift_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76752223delC	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.232delC	18.37:g.76752223delC	ENSP00000441823:p.Pro78fs					SALL3_uc010dra.2_5'Flank	p.P78fs	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	232	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	78					Q9UGH1	Frame_Shift_Del	DEL	ENST00000537592.2	37	c.232delC	CCDS12013.1																																																																																				0.716	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1		NM_171999		26	18	NaN	NaN	NaN	NaN	NaN	26	18	---	---
DAZAP1	26528	broad.mit.edu	37	19	1434776	1434776	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:1434776delC	ENST00000233078.4	+	12	1250	c.1089delC	c.(1087-1089)ttcfs	p.F363fs	DAZAP1_ENST00000336761.6_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	363	Pro-rich.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACAGGGCTTCTCAGACCCCA	0.706																																						uc002lsn.2		NaN																	0				breast(1)	1						c.(1087-1089)TTCfs		DAZ associated protein 1 isoform b							52.0	52.0	52.0					19																	1434776		2203	4300	6503	SO:0001589	frameshift_variant	26528				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:1434776delC		CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"""RNA binding motif (RRM) containing"""	2683	protein-coding gene	gene with protein product	"""deleted in azoospermia associated protein 1"""	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.1089delC	19.37:g.1434776delC	ENSP00000233078:p.Phe363fs					DAZAP1_uc002lsm.2_3'UTR|DAZAP1_uc002lso.2_Frame_Shift_Del_p.F362fs|DAZAP1_uc002lsl.1_Frame_Shift_Del_p.F362fs	p.F363fs	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1278	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	363			Pro-rich.		Q96MJ3|Q9NRR9	Frame_Shift_Del	DEL	ENST00000233078.4	37	c.1089delC	CCDS12065.1																																																																																				0.706	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3		NM_170711		48	67	NaN	NaN	NaN	NaN	NaN	48	67	---	---
LRG1	116844	broad.mit.edu	37	19	4538453	4538453	+	Frame_Shift_Del	DEL	G	G	-	rs545216965		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:4538453delG	ENST00000306390.6	-	2	1003	c.543delC	c.(541-543)cccfs	p.P181fs	LRG1_ENST00000586883.1_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	181					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCAGCCCGGGGGGCAGTT	0.622																																						uc002mau.2		NaN																	0				ovary(1)	1						c.(541-543)CCCfs		leucine-rich alpha-2-glycoprotein 1 precursor							86.0	99.0	95.0					19																	4538453		2203	4300	6503	SO:0001589	frameshift_variant	116844					extracellular region|membrane		g.chr19:4538453delG		CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.543delC	19.37:g.4538453delG	ENSP00000302621:p.Pro181fs					PLIN5_uc002mat.1_Intron	p.P181fs	NM_052972	NP_443204	P02750	A2GL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	2	554	-		Hepatocellular(1079;0.137)	181			LRR 4.		Q8N4F5|Q96QZ4	Frame_Shift_Del	DEL	ENST00000306390.6	37	c.543delC	CCDS12130.1																																																																																				0.622	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458654.2		NM_052972		7	264	NaN	NaN	NaN	NaN	NaN	7	264	---	---
CLASRP	11129	broad.mit.edu	37	19	45567607	45567609	+	In_Frame_Del	DEL	CTC	CTC	-	rs559550271		TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr19:45567607_45567609delCTC	ENST00000221455.3	+	13	1226_1228	c.1128_1130delCTC	c.(1126-1131)cgctcc>cgc	p.S385del	CLASRP_ENST00000391953.4_In_Frame_Del_p.S323del|CLASRP_ENST00000544944.2_In_Frame_Del_p.S385del	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	385	Arg-rich.|Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GCAGCCGCCGctcctcctcctcc	0.744																																						uc002pak.2		NaN																	0					0						c.(1126-1131)CGCTCC>CGC		splicing factor, arginine/serine-rich 16				8,94,3280		1,0,6,8,78,1598						4.4	1.0			5	17,209,6522		2,0,13,25,159,3175	no	codingComplex	CLASRP	NM_007056.2		3,0,19,33,237,4773	A1A1,A1A2,A1R,A2A2,A2R,RR		3.3491,3.016,3.2379				25,303,9802				SO:0001651	inframe_deletion	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45567607_45567609delCTC	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1128_1130delCTC	19.37:g.45567616_45567618delCTC	ENSP00000221455:p.Ser385del					SFRS16_uc002pal.2_RNA|SFRS16_uc010xxh.1_In_Frame_Del_p.S323del|SFRS16_uc002pam.2_In_Frame_Del_p.S385del	p.S385del	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	13	1226_1228	+		Ovarian(192;0.0728)|all_neural(266;0.112)	385			Ser-rich.|Arg-rich.		B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	In_Frame_Del	DEL	ENST00000221455.3	37	c.1128_1130delCTC	CCDS12652.2																																																																																				0.744	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1		NM_007056		4	9	NaN	NaN	NaN	NaN	NaN	4	9	---	---
FGFR3	2261	broad.mit.edu	37	4	1808937	1808937	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:1808937delC	ENST00000260795.2	+	17	2471	c.2369delC	c.(2368-2370)gccfs	p.A790fs	FGFR3_ENST00000412135.2_Frame_Shift_Del_p.A678fs|FGFR3_ENST00000481110.2_Frame_Shift_Del_p.C767fs|FGFR3_ENST00000352904.1_Frame_Shift_Del_p.A678fs|FGFR3_ENST00000440486.2_Frame_Shift_Del_p.A790fs|FGFR3_ENST00000340107.4_Frame_Shift_Del_p.A792fs			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	790					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)			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)	TCCGTGTTTGCCCACGACCTG	0.687		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		0				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						c.(2368-2370)GCCfs		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						23.0	25.0	24.0					4																	1808937		2193	4295	6488	SO:0001589	frameshift_variant	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.chr4:1808937delC	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.2369delC	4.37:g.1808937delC	ENSP00000260795:p.Ala790fs					FGFR3_uc003gdu.2_Frame_Shift_Del_p.A792fs|FGFR3_uc003gds.3_Frame_Shift_Del_p.A678fs|FGFR3_uc003gdq.3_Frame_Shift_Del_p.C767fs	p.A790fs	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)		18	2625	+		Breast(71;0.212)|all_epithelial(65;0.241)	790			Cytoplasmic (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Frame_Shift_Del	DEL	ENST00000260795.2	37	c.2369delC	CCDS3353.1																																																																																				0.687	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		265	83	NaN	NaN	NaN	NaN	NaN	265	83	---	---
GBA3	57733	broad.mit.edu	37	4	22748956	22748956	+	RNA	DEL	A	A	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:22748956delA	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATGATTTGTTAAAAAATGGGG	0.363																																						uc003gqp.3		NaN																	0					0						c.(322-324)TTAfs		cytosolic beta-glucosidase isoform a							125.0	124.0	125.0					4																	22748956		1815	4071	5886			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22748956delA	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22748956delA						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Frame_Shift_Del_p.L109fs	p.L108fs	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			3	415	+			108					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Frame_Shift_Del	DEL	ENST00000503442.1	37	c.324delA																																																																																					0.363	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2				12	208	NaN	NaN	NaN	NaN	NaN	12	208	---	---
LNX1	84708	broad.mit.edu	37	4	54342918	54342918	+	Splice_Site	DEL	A	A	-			TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr4:54342918delA	ENST00000263925.7	-	9	2207		c.e9+1		LNX1_ENST00000306888.2_Splice_Site|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase						protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GTTTGGACTTACCGTGGTAAT	0.532																																						uc003hag.3		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.e9+1		ligand of numb-protein X 1 isoform a							103.0	105.0	104.0					4																	54342918		2203	4300	6503	SO:0001630	splice_region_variant	84708					cytoplasm	zinc ion binding	g.chr4:54342918delA	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1892+1T>-	4.37:g.54342918delA						PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Splice_Site_p.R535_splice|LNX1_uc003hah.3_Splice_Site	p.R631_splice	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		9	2148	-	all_neural(26;0.153)							Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Splice_Site	DEL	ENST00000263925.7	37	c.1892_splice	CCDS47057.1																																																																																				0.532	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			Intron	38	144	NaN	NaN	NaN	NaN	NaN	38	144	---	---
ELN	2006	broad.mit.edu	37	7	73477649	73477651	+	In_Frame_Del	DEL	CCG	CCG	-	rs530876235	byFrequency	TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr7:73477649_73477651delCCG	ENST00000252034.7	+	28	2267_2269	c.1868_1870delCCG	c.(1867-1872)cccgcc>ccc	p.A630del	ELN_ENST00000358929.4_In_Frame_Del_p.A698del|ELN_ENST00000458204.1_In_Frame_Del_p.A620del|ELN_ENST00000380576.5_In_Frame_Del_p.A611del|ELN_ENST00000429192.1_In_Frame_Del_p.A616del|ELN_ENST00000380553.4_In_Frame_Del_p.A494del|ELN_ENST00000320492.7_In_Frame_Del_p.A549del|ELN_ENST00000320399.6_In_Frame_Del_p.A663del|ELN_ENST00000357036.5_In_Frame_Del_p.A635del|ELN_ENST00000414324.1_In_Frame_Del_p.A606del|ELN_ENST00000380562.4_In_Frame_Del_p.A636del|ELN_ENST00000445912.1_In_Frame_Del_p.A630del|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000380575.4_In_Frame_Del_p.A601del|ELN_ENST00000380584.4_In_Frame_Del_p.A582del	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				GGAGCCGGACccgccgccgccgc	0.68			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															uc003tzw.2		NaN		Dom	yes		7	7q11.23	2006	T	elastin	yes	Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome	L	PAX5		B-ALL		0				ovary(3)|pancreas(2)	5						c.(1885-1890)CCCGCC>CCC		elastin isoform a precursor	Rofecoxib(DB00533)																																			SO:0001651	inframe_deletion	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73477649_73477651delCCG		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1868_1870delCCG	7.37:g.73477658_73477660delCCG	ENSP00000252034:p.Ala630del					RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_In_Frame_Del_p.A630del|ELN_uc003tzz.2_In_Frame_Del_p.A549del|ELN_uc003tzo.2_In_Frame_Del_p.A582del|ELN_uc003tzp.2_In_Frame_Del_p.A541del|ELN_uc003tzq.2_In_Frame_Del_p.A494del|ELN_uc003tzr.2_RNA|ELN_uc003tzs.2_In_Frame_Del_p.A611del|ELN_uc003tzt.2_In_Frame_Del_p.A635del|ELN_uc003tzu.2_In_Frame_Del_p.A616del|ELN_uc003tzv.2_In_Frame_Del_p.A601del|ELN_uc003tzx.2_In_Frame_Del_p.A620del|ELN_uc011kff.1_In_Frame_Del_p.A630del|ELN_uc003tzy.2_In_Frame_Del_p.A606del	p.A636del	NM_000501	NP_001075224	P15502	ELN_HUMAN			28	1977_1979	+		Lung NSC(55;0.159)	692			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	In_Frame_Del	DEL	ENST00000252034.7	37	c.1886_1888delCCG	CCDS5562.2																																																																																				0.680	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1		NM_000501		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs563415390|rs148509143|rs374281647	byFrequency	TCGA-DK-A3IS-01A-21D-A21A-08	TCGA-DK-A3IS-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92a59313-da12-4896-b164-fd2d50684638	f4a45c39-9014-43d9-a791-9fe0bb5155ba	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1257_1267delGGGGGTGCAAGGTGA	c.(1255-1269)ctgggggtgcaaggt>ctgt	p.GVQG420del	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	420						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.73														3140	0.626997	0.8109	0.562	5008	,	,		8769	0.6577		0.4205	False		,,,				2504	0.6053					uc003zch.2		NaN																	2	Unknown(2)		prostate(2)	stomach(1)	1						c.e12+1		aarF domain containing kinase 5				1836,894		805,226,334						4.5	0.7		dbSNP_120	4	2015,4403		639,737,1833	no	coding-near-splice	ADCK5	NM_174922.3		1444,963,2167	A1A1,A1R,RR		31.3961,32.7473,42.0966				3851,5297				SO:0001630	splice_region_variant	203054					integral to membrane	protein serine/threonine kinase activity	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1267+1GGGGGTGCAAGGTGA>-	8.37:g.145617535_145617549delGGGGGTGCAAGGTGA						ADCK5_uc003zcg.2_Intron|ADCK5_uc003zci.2_Splice_Site_p.D12_splice	p.D423_splice	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		12	1321	+	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)							B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Splice_Site	DEL	ENST00000308860.6	37	c.1267_splice	CCDS34965.1																																																																																				0.730	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2		NM_174922	In_Frame_Del	2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
